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 NTNG1 0 genome.wustl.edu 37 1 107961230 107961230 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 107961230 107961230 G A SNP NTNG1 ENST00000370061 human ensembl 74_37 +1 known silent c.1116 p.P372 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 16 0 0 11 12 52.1739 TARDBP 0 genome.wustl.edu 37 1 11082567 11082567 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 11082567 11082567 C T SNP TARDBP ENST00000240185 human ensembl 74_37 +1 known silent c.1101 p.F367 0.982 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TARDBP HGNC ENSG00000120948 97 0 0 75 30 28.5714 MASP2 0 genome.wustl.edu 37 1 11103525 11103525 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 11103525 11103525 C T SNP MASP2 ENST00000400897 human ensembl 74_37 -1 known silent c.612 p.P204 0.072 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MASP2 HGNC ENSG00000009724 21 0 0 17 7 29.1667 MTOR 0 genome.wustl.edu 37 1 11307756 11307756 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 11307756 11307756 T C SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.1151 p.K384R 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 123 0 0 106 52 32.9114 MTHFR 0 genome.wustl.edu 37 1 11863504 11863504 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 11863504 11863504 G A SNP MTHFR ENST00000376583 human ensembl 74_37 -1 known missense c.68 p.S23L 0.000 NULL pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 14 0 0 11 12 52.1739 CLCN6 0 genome.wustl.edu 37 1 11887152 11887152 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 11887152 11887152 G T SNP CLCN6 ENST00000346436 human ensembl 74_37 +1 known missense c.714 p.K238N 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC ENSG00000011021 55 0 0 37 32 46.3768 VPS13D 0 genome.wustl.edu 37 1 12337111 12337111 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 12337111 12337111 T C SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.3466 p.Y1156H 0.588 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 118 0 0 163 10 5.78035 MXRA8 0 genome.wustl.edu 37 1 1290349 1290349 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 1290349 1290349 C T SNP MXRA8 ENST00000445648 human ensembl 74_37 -1 known missense c.662 p.R221H 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 16 0 0 16 12 42.8571 POLR3C 0 genome.wustl.edu 37 1 145606365 145606365 + Splice_Site SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 145606365 145606365 T C SNP POLR3C ENST00000334163 human ensembl 74_37 -1 known splice_site c.590-2 e4-2 1.000 - - - no_errors POLR3C HGNC ENSG00000186141 170 0 0 118 74 38.5417 SETDB1 0 genome.wustl.edu 37 1 150923206 150923206 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 150923206 150923206 A G SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known missense c.1853 p.N618S 1.000 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 150 0 0 102 52 33.7662 C1orf56 0 genome.wustl.edu 37 1 151022961 151022961 + Splice_Site SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 151022961 151022961 G A SNP C1orf56 ENST00000465135 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.001 - - - no_errors C1orf56 HGNC ENSG00000143443 181 0 0 154 85 35.5649 NBPF18P 0 genome.wustl.edu 37 1 151990992 151990992 + RNA SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 151990992 151990992 G A SNP NBPF18P ENST00000432386 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NBPF18P HGNC ENSG00000229021 9 0 0 9 9 50 TCHH 0 genome.wustl.edu 37 1 152081227 152081227 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 152081227 152081227 T C SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.4466 p.E1489G 0.031 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 183 1 0.543478 260 100 27.7778 HRNR 0 genome.wustl.edu 37 1 152188012 152188012 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 152188012 152188012 T C SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.6093 p.Q2031 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 1158 0 0 1480 154 9.42472 HRNR 0 genome.wustl.edu 37 1 152192934 152192934 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 152192934 152192934 C A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.1171 p.G391C 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 125 0 0 114 77 40.3141 FLG2 0 genome.wustl.edu 37 1 152326514 152326514 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 152326514 152326514 T C SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.3748 p.S1250G 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 288 0 0 222 140 38.674 LCE5A 0 genome.wustl.edu 37 1 152484072 152484072 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 152484072 152484072 C A SNP LCE5A ENST00000334269 human ensembl 74_37 +1 known missense c.62 p.P21H 0.080 NULL NULL - no_errors LCE5A HGNC ENSG00000186207 116 1 0.854701 105 62 37.1257 IVL 0 genome.wustl.edu 37 1 152882474 152882474 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 152882474 152882474 A G SNP IVL ENST00000368764 human ensembl 74_37 +1 known silent c.201 p.V67 0.000 pfam_Involucrin_N pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 43 0 0 76 5 6.17284 NPR1 0 genome.wustl.edu 37 1 153657446 153657446 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 153657446 153657446 G A SNP NPR1 ENST00000368680 human ensembl 74_37 +1 known missense c.1491 p.M497I 1.000 smart_Tyr_kinase_cat_dom 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_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 146 0 0 112 61 35.2601 NUP210L 0 genome.wustl.edu 37 1 154112412 154112412 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 154112412 154112412 C T SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.583 p.E195K 0.998 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 449 1 0.222222 327 175 34.8606 UBAP2L 0 genome.wustl.edu 37 1 154215512 154215512 + RNA SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 154215512 154215512 T C SNP UBAP2L ENST00000466173 human ensembl 74_37 +1 known rna NULL NULL 0.037 - - - no_errors UBAP2L HGNC ENSG00000143569 17 0 0 13 5 27.7778 UBAP2L 0 genome.wustl.edu 37 1 154239006 154239006 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 154239006 154239006 G A SNP UBAP2L ENST00000361546 human ensembl 74_37 +1 known missense c.2932 p.V978M 1.000 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC ENSG00000143569 615 1 0.162338 488 296 37.7551 DCST1 0 genome.wustl.edu 37 1 155020285 155020285 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 155020285 155020285 C T SNP DCST1 ENST00000295542 human ensembl 74_37 +1 known silent c.1635 p.G545 0.005 pfam_DC_STAMP-like pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 63 0 0 50 18 26.4706 TRIM46 0 genome.wustl.edu 37 1 155154563 155154563 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 155154563 155154563 C T SNP TRIM46 ENST00000334634 human ensembl 74_37 +1 known silent c.1824 p.G608 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 32 0 0 31 8 20.5128 HCN3 0 genome.wustl.edu 37 1 155252506 155252506 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 155252506 155252506 C T SNP HCN3 ENST00000368358 human ensembl 74_37 +1 known missense c.583 p.R195W 0.903 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 82 0 0 62 38 38 FDPS 0 genome.wustl.edu 37 1 155282155 155282155 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 155282155 155282155 G A SNP FDPS ENST00000356657 human ensembl 74_37 +1 known missense c.449 p.R150Q 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 44 0 0 44 32 42.1053 ASH1L 0 genome.wustl.edu 37 1 155451338 155451338 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 155451338 155451338 A G SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known silent c.1323 p.S441 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 59 0 0 72 25 25.7732 LMNA 0 genome.wustl.edu 37 1 156105025 156105025 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 156105025 156105025 G A SNP LMNA ENST00000368300 human ensembl 74_37 +1 known silent c.858 p.G286 1.000 pfam_IF pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNA HGNC ENSG00000160789 55 0 0 54 6 10 SMG5 0 genome.wustl.edu 37 1 156235734 156235734 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 156235734 156235734 T G SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known missense c.1693 p.S565R 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 71 0 0 51 41 44.5652 SH2D2A 0 genome.wustl.edu 37 1 156779193 156779193 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 156779193 156779193 G A SNP SH2D2A ENST00000392306 human ensembl 74_37 -1 known silent c.834 p.R278 0.004 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D2A HGNC ENSG00000027869 211 0 0 168 102 37.7778 INSRR 0 genome.wustl.edu 37 1 156816356 156816356 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 156816356 156816356 G A SNP INSRR ENST00000368195 human ensembl 74_37 -1 known nonsense c.1765 p.Q589* 0.230 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSRR HGNC ENSG00000027644 56 0 0 30 24 44.4444 CD1D 0 genome.wustl.edu 37 1 158152042 158152042 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 158152042 158152042 C T SNP CD1D ENST00000368171 human ensembl 74_37 +1 known silent c.549 p.T183 0.022 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1D HGNC ENSG00000158473 255 0 0 217 99 31.3291 CD1A 0 genome.wustl.edu 37 1 158226686 158226686 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 158226686 158226686 C T SNP CD1A ENST00000289429 human ensembl 74_37 +1 known missense c.715 p.R239W 0.057 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1A HGNC ENSG00000158477 152 0 0 120 83 40.8867 CD1B 0 genome.wustl.edu 37 1 158299763 158299763 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 158299763 158299763 G T SNP CD1B ENST00000368168 human ensembl 74_37 -1 known missense c.486 p.F162L 0.002 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1B HGNC ENSG00000158485 216 0 0 160 102 38.9313 CD1E 0 genome.wustl.edu 37 1 158325868 158325868 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 158325868 158325868 G A SNP CD1E ENST00000368167 human ensembl 74_37 +1 known missense c.877 p.G293R 0.001 pfam_Ig_C1-set,smart_Ig_C1-set pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 89 0 0 127 7 5.22388 SPTA1 0 genome.wustl.edu 37 1 158581162 158581162 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 158581162 158581162 T G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.7152 p.Q2384H 1.000 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 138 1 0.719424 107 59 35.5422 OR6K3 0 genome.wustl.edu 37 1 158687251 158687251 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 158687251 158687251 T C SNP OR6K3 ENST00000368146 human ensembl 74_37 -1 known missense c.703 p.R235G 0.000 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 OR6K3 HGNC ENSG00000203757 104 0 0 69 62 47.3282 IGSF9 0 genome.wustl.edu 37 1 159900941 159900941 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 159900941 159900941 A G SNP IGSF9 ENST00000368094 human ensembl 74_37 -1 known missense c.1624 p.W542R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9 HGNC ENSG00000085552 46 0 0 25 15 37.5 CD84 0 genome.wustl.edu 37 1 160520881 160520881 + RNA SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 160520881 160520881 T C SNP CD84 ENST00000466767 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors CD84 HGNC ENSG00000066294 78 0 0 57 26 31.3253 NOS1AP 0 genome.wustl.edu 37 1 162325131 162325131 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 162325131 162325131 C T SNP NOS1AP ENST00000361897 human ensembl 74_37 +1 known silent c.750 p.H250 0.024 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors NOS1AP HGNC ENSG00000198929 120 0 0 82 45 35.4331 ZBTB17 0 genome.wustl.edu 37 1 16269901 16269901 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 16269901 16269901 C A SNP ZBTB17 ENST00000375733 human ensembl 74_37 -1 known missense c.1690 p.G564C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_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 ZBTB17 HGNC ENSG00000116809 112 0 0 86 53 38.1295 ZBTB17 0 genome.wustl.edu 37 1 16270392 16270392 + Splice_Site SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 16270392 16270392 T C SNP ZBTB17 ENST00000375733 human ensembl 74_37 -1 known splice_site c.1372-2 e8-2 1.000 - - - no_errors ZBTB17 HGNC ENSG00000116809 12 0 0 9 4 30.7692 UCK2 0 genome.wustl.edu 37 1 165876941 165876941 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 165876941 165876941 C T SNP UCK2 ENST00000367879 human ensembl 74_37 +1 known nonsense c.667 p.Q223* 1.000 superfamily_P-loop_NTPase,tigrfam_Uridine_kinase pfam_PRK/URK,pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCK2 HGNC ENSG00000143179 103 1 0.961538 84 33 28.2051 MAEL 0 genome.wustl.edu 37 1 166958612 166958612 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 166958612 166958612 G A SNP MAEL ENST00000367872 human ensembl 74_37 +1 known missense c.23 p.R8Q 0.997 pfam_HMG_box_dom,superfamily_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_CH-domain - no_errors MAEL HGNC ENSG00000143194 13 0 0 21 8 27.5862 CD247 0 genome.wustl.edu 37 1 167403429 167403429 + RNA SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 167403429 167403429 G A SNP CD247 ENST00000483825 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CD247 HGNC ENSG00000198821 33 0 0 31 15 32.6087 CROCCP2 0 genome.wustl.edu 37 1 16946438 16946438 + RNA SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 16946438 16946438 G A SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 30 0 0 26 6 18.75 ESPNP 0 genome.wustl.edu 37 1 17046548 17046548 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 17046548 17046548 C T SNP ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors ESPNP HGNC ENSG00000268869 125 0 0 140 15 9.67742 METTL13 0 genome.wustl.edu 37 1 171753504 171753504 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 171753504 171753504 C T SNP METTL13 ENST00000361735 human ensembl 74_37 +1 known missense c.778 p.R260C 0.996 NULL pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 61 0 0 33 29 46.7742 KLHL20 0 genome.wustl.edu 37 1 173702865 173702865 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 173702865 173702865 C T SNP KLHL20 ENST00000209884 human ensembl 74_37 +1 known nonsense c.37 p.R13* 1.000 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 KLHL20 HGNC ENSG00000076321 96 0 0 95 33 25.7812 KLHL20 0 genome.wustl.edu 37 1 173735385 173735385 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 173735385 173735385 G A SNP KLHL20 ENST00000209884 human ensembl 74_37 +1 known missense c.1252 p.V418M 1.000 pfam_Kelch_1,smart_Kelch_1,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 KLHL20 HGNC ENSG00000076321 316 0 0 221 139 38.6111 GPR52 0 genome.wustl.edu 37 1 174417458 174417458 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 174417458 174417458 T C SNP GPR52 ENST00000367685 human ensembl 74_37 +1 known missense c.209 p.L70P 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR52 HGNC ENSG00000203737 307 0 0 312 23 6.86567 TNR 0 genome.wustl.edu 37 1 175372584 175372584 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 175372584 175372584 C T SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.668 p.S223N 0.959 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 186 0 0 185 115 38.3333 RFWD2 0 genome.wustl.edu 37 1 176012905 176012905 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 176012905 176012905 A G SNP RFWD2 ENST00000367669 human ensembl 74_37 -1 known missense c.1471 p.Y491H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RFWD2 HGNC ENSG00000143207 306 0 0 226 160 41.4508 PADI3 0 genome.wustl.edu 37 1 17609341 17609341 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 17609341 17609341 G A SNP PADI3 ENST00000375460 human ensembl 74_37 +1 known missense c.1762 p.V588M 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 18 0 0 13 12 48 CACNA1E 0 genome.wustl.edu 37 1 181686388 181686388 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 181686388 181686388 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.1475 p.C492Y 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 112 0 0 85 51 37.5 HMCN1 0 genome.wustl.edu 37 1 186107029 186107029 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 186107029 186107029 T A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.13849 p.S4617T 0.050 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 161 0 0 198 17 7.90698 TPR 0 genome.wustl.edu 37 1 186325579 186325579 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 186325579 186325579 A G SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.1727 p.I576T 0.980 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 27 0 0 29 19 39.5833 KLHDC7A 0 genome.wustl.edu 37 1 18808480 18808480 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 18808480 18808480 A G SNP KLHDC7A ENST00000400664 human ensembl 74_37 +1 known silent c.1005 p.Q335 0.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 33 0 0 22 19 46.3415 NBL1 0 genome.wustl.edu 37 1 19983449 19983449 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 19983449 19983449 A G SNP NBL1 ENST00000289749 human ensembl 74_37 +1 known missense c.478 p.K160E 1.000 pfam_Cys_knot pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C - no_errors NBL1 HGNC ENSG00000158747 15 0 0 14 13 48.1481 KIF21B 0 genome.wustl.edu 37 1 200977992 200977992 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 200977992 200977992 C T SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.352 p.A118T 0.013 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom 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 143 0 0 135 80 37.2093 ARL8A 0 genome.wustl.edu 37 1 202107101 202107101 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 202107101 202107101 G A SNP ARL8A ENST00000272217 human ensembl 74_37 -1 known silent c.270 p.S90 0.998 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL8A HGNC ENSG00000143862 32 0 0 43 20 31.746 CHI3L1 0 genome.wustl.edu 37 1 203152803 203152803 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 203152803 203152803 C T SNP CHI3L1 ENST00000255409 human ensembl 74_37 -1 known missense c.431 p.R144Q 0.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC ENSG00000133048 64 0 0 54 40 42.5532 TMCC2 0 genome.wustl.edu 37 1 205238532 205238532 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 205238532 205238532 G A SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known missense c.1202 p.G401D 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 68 0 0 56 39 41.0526 CR1 0 genome.wustl.edu 37 1 207739212 207739212 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 207739212 207739212 A G SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.3896 p.Y1299C 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 CR1 HGNC ENSG00000203710 157 0 0 152 64 29.6296 CR1 0 genome.wustl.edu 37 1 207782932 207782932 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 207782932 207782932 T C SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.6194 p.I2065T 0.006 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 CR1 HGNC ENSG00000203710 30 0 0 47 3 6 PINK1 0 genome.wustl.edu 37 1 20977238 20977238 + RNA SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 20977238 20977238 G A SNP PINK1 ENST00000400490 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PINK1 HGNC ENSG00000158828 21 0 0 15 16 51.6129 LAMB3 0 genome.wustl.edu 37 1 209788709 209788709 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 209788709 209788709 C T SNP LAMB3 ENST00000356082 human ensembl 74_37 -1 known silent c.3426 p.L1142 0.019 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 98 0 0 92 40 30.303 KCNH1 0 genome.wustl.edu 37 1 210857460 210857460 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 210857460 210857460 G A SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known silent c.2133 p.S711 0.898 prints_K_chnl_volt-dep_EAG 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 77 0 0 48 23 32.3944 PPP2R5A 0 genome.wustl.edu 37 1 212519208 212519208 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 212519208 212519208 C T SNP PPP2R5A ENST00000261461 human ensembl 74_37 +1 known nonsense c.637 p.R213* 1.000 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 90 0 0 108 39 26.5306 TATDN3 0 genome.wustl.edu 37 1 212981104 212981104 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 212981104 212981104 T C SNP TATDN3 ENST00000366974 human ensembl 74_37 +1 known missense c.514 p.F172L 0.999 pfam_TatD_family,pirsf_TatD_family pfam_TatD_family,pirsf_TatD_family - no_errors TATDN3 HGNC ENSG00000203705 109 0 0 141 10 6.62252 PROX1 0 genome.wustl.edu 37 1 214169903 214169903 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 214169903 214169903 C A SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.25 p.L9I 1.000 NULL pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 80 0 0 83 40 32.5203 CENPF 0 genome.wustl.edu 37 1 214794279 214794279 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 214794279 214794279 G A SNP CENPF ENST00000366955 human ensembl 74_37 +1 known silent c.855 p.A285 0.993 pfam_Centromere_CenpF_N pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 127 0 0 101 44 30.3448 KCNK2 0 genome.wustl.edu 37 1 215179291 215179291 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 215179291 215179291 T C SNP KCNK2 ENST00000391895 human ensembl 74_37 +1 known silent c.27 p.D9 1.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC ENSG00000082482 64 0 0 61 30 32.967 TGFB2 0 genome.wustl.edu 37 1 218607454 218607454 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 218607454 218607454 A G SNP TGFB2 ENST00000366929 human ensembl 74_37 +1 known missense c.625 p.T209A 1.000 pirsf_TGF-beta,pfam_TGF-b_N,prints_TGFb2,prints_TGF-beta pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_TGFb2,prints_TGF-beta - no_errors TGFB2 HGNC ENSG00000092969 382 0 0 375 178 32.1881 HSPG2 0 genome.wustl.edu 37 1 22179477 22179477 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 22179477 22179477 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.6526 p.P2176S 0.895 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 98 0 0 98 35 26.3158 SKI 0 genome.wustl.edu 37 1 2235477 2235477 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 2235477 2235477 C T SNP SKI ENST00000378536 human ensembl 74_37 +1 known silent c.1410 p.P470 0.000 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 25 0 0 31 18 36.7347 LBR 0 genome.wustl.edu 37 1 225598068 225598068 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 225598068 225598068 G A SNP LBR ENST00000272163 human ensembl 74_37 -1 known silent c.1239 p.R413 0.000 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 179 0 0 156 96 38.0952 PARP1 0 genome.wustl.edu 37 1 226562030 226562030 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 226562030 226562030 G A SNP PARP1 ENST00000366794 human ensembl 74_37 -1 known missense c.1967 p.T656I 1.000 pirsf_NAD_ADPRT 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 75 0 0 49 27 35.5263 OBSCN 0 genome.wustl.edu 37 1 228434434 228434434 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 228434434 228434434 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.3963 p.G1321 0.693 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 147 0 0 98 69 41.3174 OBSCN 0 genome.wustl.edu 37 1 228468282 228468282 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 228468282 228468282 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.7982 p.R2661H 0.003 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 63 0 0 42 33 44 URB2 0 genome.wustl.edu 37 1 229770731 229770731 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 229770731 229770731 G A SNP URB2 ENST00000258243 human ensembl 74_37 +1 known missense c.371 p.R124Q 1.000 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 80 0 0 91 5 5.20833 C1orf198 0 genome.wustl.edu 37 1 230979463 230979463 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 230979463 230979463 C T SNP C1orf198 ENST00000366663 human ensembl 74_37 -1 known silent c.564 p.A188 0.006 NULL NULL - no_errors C1orf198 HGNC ENSG00000119280 205 0 0 172 81 32.0158 MORN1 0 genome.wustl.edu 37 1 2317268 2317268 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 2317268 2317268 C T SNP MORN1 ENST00000378531 human ensembl 74_37 -1 known missense c.427 p.G143S 0.649 pfam_MORN,smart_MORN pfam_MORN,smart_MORN - no_errors MORN1 HGNC ENSG00000116151 219 0 0 161 99 38.0769 SIPA1L2 0 genome.wustl.edu 37 1 232581327 232581327 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 232581327 232581327 C T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.3301 p.A1101T 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 59 0 0 48 23 32.3944 KIAA1804 0 genome.wustl.edu 37 1 233507898 233507898 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 233507898 233507898 C T SNP KIAA1804 ENST00000366624 human ensembl 74_37 +1 known missense c.1667 p.A556V 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MLK4 Uniprot_gn ENSG00000143674 97 0 0 84 40 32.2581 NID1 0 genome.wustl.edu 37 1 236208817 236208817 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 236208817 236208817 T C SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.692 p.K231R 0.019 pfam_Nidogen_extracell_dom,smart_Nidogen_extracell_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 123 0 0 132 76 36.5385 RYR2 0 genome.wustl.edu 37 1 237919637 237919637 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 237919637 237919637 A G SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.11213 p.H3738R 0.998 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 77 0 0 62 18 22.5 E2F2 0 genome.wustl.edu 37 1 23845552 23845552 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 23845552 23845552 T C SNP E2F2 ENST00000361729 human ensembl 74_37 -1 known missense c.808 p.K270E 1.000 NULL pfam_E2F_TDP - no_errors E2F2 HGNC ENSG00000007968 76 0 0 67 43 39.0909 RGS7 0 genome.wustl.edu 37 1 240990446 240990446 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 240990446 240990446 C A SNP RGS7 ENST00000407727 human ensembl 74_37 -1 known silent c.636 p.V212 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS7 HGNC ENSG00000182901 119 0 0 112 41 26.7974 CHML 0 genome.wustl.edu 37 1 241798364 241798364 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 241798364 241798364 T C SNP CHML ENST00000366553 human ensembl 74_37 -1 known silent c.705 p.S235 1.000 pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHML HGNC ENSG00000203668 105 0 0 101 68 40.2367 ZNF695 0 genome.wustl.edu 37 1 247150914 247150914 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 247150914 247150914 A G SNP ZNF695 ENST00000339986 human ensembl 74_37 -1 known silent c.903 p.C301 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 ZNF695 HGNC ENSG00000197472 34 0 0 45 15 25 OR2W3 0 genome.wustl.edu 37 1 248059019 248059019 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 248059019 248059019 C T SNP OR2W3 ENST00000360358 human ensembl 74_37 +1 known missense c.131 p.T44I 0.052 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 OR2W3 HGNC ENSG00000238243 258 0 0 175 104 37.276 OR2M5 0 genome.wustl.edu 37 1 248309326 248309326 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 248309326 248309326 C A SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known missense c.877 p.R293S 0.180 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 105 1 0.943396 105 67 38.9535 OR2T27 0 genome.wustl.edu 37 1 248813394 248813394 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 248813394 248813394 A G SNP OR2T27 ENST00000344889 human ensembl 74_37 -1 known silent c.792 p.S264 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T27 HGNC ENSG00000187701 66 0 0 58 22 27.5 SH3BP5L 0 genome.wustl.edu 37 1 249107289 249107289 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 249107289 249107289 C T SNP SH3BP5L ENST00000366472 human ensembl 74_37 -1 known missense c.610 p.A204T 1.000 pfam_SH3-bd_5 pfam_SH3-bd_5 - no_errors SH3BP5L HGNC ENSG00000175137 25 0 0 20 21 51.2195 YARS 0 genome.wustl.edu 37 1 33245661 33245661 + RNA SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 33245661 33245661 T C SNP YARS ENST00000490826 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors YARS HGNC ENSG00000134684 78 0 0 102 37 26.6187 GJA4 0 genome.wustl.edu 37 1 35260202 35260202 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 35260202 35260202 G A SNP GJA4 ENST00000342280 human ensembl 74_37 +1 known missense c.388 p.V130I 0.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin37 - no_errors GJA4 HGNC ENSG00000187513 39 0 0 35 10 22.2222 AGO1 0 genome.wustl.edu 37 1 36358858 36358858 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 36358858 36358858 T C SNP AGO1 ENST00000373204 human ensembl 74_37 +1 known missense c.491 p.M164T 1.000 superfamily_PAZ_dom 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 AGO1 HGNC ENSG00000092847 95 0 0 81 36 30.7692 MRPS15 0 genome.wustl.edu 37 1 36921835 36921835 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 36921835 36921835 G A SNP MRPS15 ENST00000373116 human ensembl 74_37 -1 known nonsense c.589 p.R197* 0.993 NULL pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd - no_errors MRPS15 HGNC ENSG00000116898 49 0 0 44 22 33.3333 CSF3R 0 genome.wustl.edu 37 1 36938264 36938264 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 36938264 36938264 G A SNP CSF3R ENST00000373103 human ensembl 74_37 -1 known missense c.697 p.R233W 0.172 superfamily_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 28 0 0 25 18 41.8605 LRRC47 0 genome.wustl.edu 37 1 3703754 3703754 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 3703754 3703754 C T SNP LRRC47 ENST00000378251 human ensembl 74_37 -1 known missense c.736 p.V246I 1.000 NULL pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd - no_errors LRRC47 HGNC ENSG00000130764 68 0 0 62 45 42.0561 LRRC47 0 genome.wustl.edu 37 1 3703780 3703780 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 3703780 3703780 A G SNP LRRC47 ENST00000378251 human ensembl 74_37 -1 known missense c.710 p.L237P 1.000 NULL pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd - no_errors LRRC47 HGNC ENSG00000130764 75 0 0 63 35 35.7143 MACF1 0 genome.wustl.edu 37 1 39844153 39844153 + Nonsense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 39844153 39844153 G T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known nonsense c.7048 p.G2350* 1.000 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 96 0 0 83 50 37.594 KIAA0754 0 genome.wustl.edu 37 1 39879590 39879590 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 39879590 39879590 C T SNP KIAA0754 ENST00000530275 human ensembl 74_37 +1 known missense c.3245 p.P1082L 0.004 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 16 0 0 7 5 41.6667 HPCAL4 0 genome.wustl.edu 37 1 40149624 40149624 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 40149624 40149624 C T SNP HPCAL4 ENST00000372844 human ensembl 74_37 -1 known missense c.363 p.M121I 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors HPCAL4 HGNC ENSG00000116983 58 0 0 47 17 26.5625 ZFP69 0 genome.wustl.edu 37 1 40961584 40961584 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 40961584 40961584 T C SNP ZFP69 ENST00000372705 human ensembl 74_37 +1 known silent c.1434 p.H478 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP69 HGNC ENSG00000187815 85 0 0 102 49 32.4503 LEPRE1 0 genome.wustl.edu 37 1 43224593 43224593 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 43224593 43224593 T C SNP LEPRE1 ENST00000236040 human ensembl 74_37 -1 known silent c.870 p.P290 0.991 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC ENSG00000117385 119 0 0 88 49 35.7664 ELOVL1 0 genome.wustl.edu 37 1 43829798 43829798 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 43829798 43829798 A G SNP ELOVL1 ENST00000372458 human ensembl 74_37 -1 known missense c.629 p.V210A 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL1 HGNC ENSG00000066322 71 0 0 48 30 38.4615 KDM4A 0 genome.wustl.edu 37 1 44156472 44156472 + RNA SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 44156472 44156472 T G SNP KDM4A ENST00000481296 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors KDM4A HGNC ENSG00000066135 167 0 0 138 81 36.9863 KDM4A 0 genome.wustl.edu 37 1 44163664 44163664 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 44163664 44163664 C T SNP KDM4A ENST00000372396 human ensembl 74_37 +1 known missense c.2821 p.L941F 1.000 smart_Tudor 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 96 0 0 91 44 32.5926 IPO13 0 genome.wustl.edu 37 1 44415386 44415386 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 44415386 44415386 G A SNP IPO13 ENST00000372343 human ensembl 74_37 +1 known missense c.382 p.A128T 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,pfscan_Importin-beta_N - no_errors IPO13 HGNC ENSG00000117408 69 0 0 51 32 38.5542 DPH2 0 genome.wustl.edu 37 1 44437275 44437275 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 44437275 44437275 T C SNP DPH2 ENST00000255108 human ensembl 74_37 +1 known missense c.701 p.L234P 1.000 pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu - no_errors DPH2 HGNC ENSG00000132768 150 0 0 118 56 32.1839 B4GALT2 0 genome.wustl.edu 37 1 44447558 44447558 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 44447558 44447558 C T SNP B4GALT2 ENST00000309519 human ensembl 74_37 +1 known missense c.598 p.R200W 1.000 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT2 HGNC ENSG00000117411 63 0 0 57 25 30.4878 DMAP1 0 genome.wustl.edu 37 1 44684858 44684858 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 44684858 44684858 C T SNP DMAP1 ENST00000315913 human ensembl 74_37 +1 known missense c.851 p.T284M 0.998 pfam_DMAP1 pfam_DMAP1,superfamily_Homeodomain-like - no_errors DMAP1 HGNC ENSG00000178028 84 0 0 86 45 34.3511 KIF2C 0 genome.wustl.edu 37 1 45218915 45218915 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 45218915 45218915 C A SNP KIF2C ENST00000372224 human ensembl 74_37 +1 known missense c.551 p.P184H 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 KIF2C HGNC ENSG00000142945 68 0 0 57 28 32.9412 ZSWIM5 0 genome.wustl.edu 37 1 45504669 45504669 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 45504669 45504669 G A SNP ZSWIM5 ENST00000359600 human ensembl 74_37 -1 known silent c.1833 p.C611 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 91 0 0 86 33 27.7311 GPBP1L1 0 genome.wustl.edu 37 1 46094046 46094046 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 46094046 46094046 A G SNP GPBP1L1 ENST00000290795 human ensembl 74_37 -1 known missense c.1307 p.L436S 0.999 NULL NULL - no_errors GPBP1L1 HGNC ENSG00000159592 86 0 0 78 38 32.7586 MAST2 0 genome.wustl.edu 37 1 46500422 46500422 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 46500422 46500422 C T SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known missense c.4081 p.R1361W 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 142 1 0.699301 147 66 30.9859 CYP4Z1 0 genome.wustl.edu 37 1 47571852 47571852 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 47571852 47571852 C T SNP CYP4Z1 ENST00000334194 human ensembl 74_37 +1 known missense c.1120 p.R374C 0.100 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4Z1 HGNC ENSG00000186160 204 0 0 138 68 33.0097 ELAVL4 0 genome.wustl.edu 37 1 50663114 50663114 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 50663114 50663114 C T SNP ELAVL4 ENST00000371821 human ensembl 74_37 +1 known missense c.763 p.L255F 1.000 tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL4 HGNC ENSG00000162374 152 0 0 116 65 35.9116 TTC39A 0 genome.wustl.edu 37 1 51771659 51771659 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 51771659 51771659 G A SNP TTC39A ENST00000447632 human ensembl 74_37 -1 known missense c.686 p.A229V 1.000 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC ENSG00000085831 81 0 0 67 30 30.9278 OSBPL9 0 genome.wustl.edu 37 1 52179678 52179678 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 52179678 52179678 G A SNP OSBPL9 ENST00000371710 human ensembl 74_37 +1 known missense c.299 p.R100H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL9 HGNC ENSG00000117859 70 0 0 53 31 36.9048 LRRC42 0 genome.wustl.edu 37 1 54433549 54433549 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 54433549 54433549 A G SNP LRRC42 ENST00000319223 human ensembl 74_37 +1 known silent c.1224 p.Q408 0.041 NULL NULL - no_errors LRRC42 HGNC ENSG00000116212 102 0 0 95 39 29.1045 USP24 0 genome.wustl.edu 37 1 55624658 55624658 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 55624658 55624658 G A SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.784 p.R262C 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 16 0 0 16 12 42.8571 MYSM1 0 genome.wustl.edu 37 1 59126870 59126870 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 59126870 59126870 C T SNP MYSM1 ENST00000472487 human ensembl 74_37 -1 known missense c.2300 p.R767Q 1.000 NULL pfam_SWIRM,pfam_JAB_MPN_dom,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB_MPN_dom,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors MYSM1 HGNC ENSG00000162601 77 0 0 61 34 35.7895 CHD5 0 genome.wustl.edu 37 1 6208971 6208971 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 6208971 6208971 G A SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known silent c.1326 p.C442 1.000 pfam_Znf_PHD-finger,superfamily_Chromodomain-like,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,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 CHD5 HGNC ENSG00000116254 65 0 0 72 32 30.7692 PLEKHG5 0 genome.wustl.edu 37 1 6534577 6534577 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 6534577 6534577 A T SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known missense c.610 p.S204T 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 53 0 0 34 27 44.2623 MIER1 0 genome.wustl.edu 37 1 67436605 67436605 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 67436605 67436605 C T SNP MIER1 ENST00000401041 human ensembl 74_37 +1 known missense c.887 p.A296V 1.000 pfscan_ELM2_dom pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER1 HGNC ENSG00000198160 120 0 0 95 38 28.5714 PTGER3 0 genome.wustl.edu 37 1 71512898 71512898 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 71512898 71512898 C T SNP PTGER3 ENST00000354608 human ensembl 74_37 -1 known silent c.363 p.E121 0.581 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 8 0 0 13 4 23.5294 ELTD1 0 genome.wustl.edu 37 1 79383320 79383320 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 79383320 79383320 A G SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known missense c.1748 p.L583P 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like 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 21 0 0 20 15 42.8571 ELTD1 0 genome.wustl.edu 37 1 79383329 79383329 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 79383329 79383329 A T SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known missense c.1739 p.L580Q 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like 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 22 0 0 24 15 38.4615 SLC45A1 0 genome.wustl.edu 37 1 8384496 8384496 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 8384496 8384496 C T SNP SLC45A1 ENST00000377479 human ensembl 74_37 +1 known missense c.209 p.T70I 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 181 0 0 133 80 37.5587 RERE 0 genome.wustl.edu 37 1 8420006 8420006 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 8420006 8420006 G A SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.3436 p.R1146W 0.940 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 106 0 0 69 65 48.5075 CCBL2 0 genome.wustl.edu 37 1 89408688 89408688 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 89408688 89408688 T C SNP CCBL2 ENST00000260508 human ensembl 74_37 -1 known silent c.1302 p.K434 0.999 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors CCBL2 HGNC ENSG00000137944 280 1 0.355872 276 119 30.1266 GBP1P1 0 genome.wustl.edu 37 1 89875868 89875868 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 89875868 89875868 C T SNP GBP1P1 ENST00000513638 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GBP1P1 HGNC ENSG00000225492 106 0 0 89 71 44.375 LRRC8D 0 genome.wustl.edu 37 1 90399962 90399962 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 90399962 90399962 A G SNP LRRC8D ENST00000337338 human ensembl 74_37 +1 known silent c.1335 p.K445 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 141 0 0 106 53 33.3333 MTF2 0 genome.wustl.edu 37 1 93602519 93602519 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 93602519 93602519 C T SNP MTF2 ENST00000370298 human ensembl 74_37 +1 known missense c.1717 p.R573C 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MTF2 HGNC ENSG00000143033 132 0 0 99 69 41.0714 GCLM 0 genome.wustl.edu 37 1 94360237 94360237 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 94360237 94360237 C T SNP GCLM ENST00000370238 human ensembl 74_37 -1 known missense c.588 p.M196I 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors GCLM HGNC ENSG00000023909 200 0 0 138 59 29.9492 LOC101927255 0 genome.wustl.edu 37 10 100011944 100011944 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 100011944 100011944 C T SNP LOC101927255 ENST00000433374 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-34A14.3 Clone_based_vega_gene ENSG00000230928 16 0 0 6 5 45.4545 PYROXD2 0 genome.wustl.edu 37 10 100167414 100167414 + Splice_Site SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 100167414 100167414 T G SNP PYROXD2 ENST00000370575 human ensembl 74_37 -1 known splice_site c.242-2 e4-2 1.000 - - - no_errors PYROXD2 HGNC ENSG00000119943 57 0 0 29 21 42 CPN1 0 genome.wustl.edu 37 10 101841235 101841235 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 101841235 101841235 T G SNP CPN1 ENST00000370418 human ensembl 74_37 -1 known missense c.148 p.S50R 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC ENSG00000120054 42 0 0 51 32 38.5542 KCNIP2 0 genome.wustl.edu 37 10 103589020 103589020 + RNA SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 103589020 103589020 T G SNP KCNIP2 ENST00000483385 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNIP2 HGNC ENSG00000120049 9 0 0 12 8 40 GBF1 0 genome.wustl.edu 37 10 104117861 104117861 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 104117861 104117861 G A SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known silent c.705 p.R235 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 300 1 0.332226 228 133 36.8421 NT5C2 0 genome.wustl.edu 37 10 104860806 104860806 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 104860806 104860806 T C SNP NT5C2 ENST00000343289 human ensembl 74_37 -1 known missense c.535 p.T179A 0.997 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5C2 HGNC ENSG00000076685 45 0 0 52 17 24.6377 NHLRC2 0 genome.wustl.edu 37 10 115639427 115639427 + Silent SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 115639427 115639427 A T SNP NHLRC2 ENST00000369301 human ensembl 74_37 +1 known silent c.882 p.A294 1.000 pfam_NHL_repeat pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr - no_errors NHLRC2 HGNC ENSG00000196865 38 0 0 43 15 25.8621 ATRNL1 0 genome.wustl.edu 37 10 116881571 116881571 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 116881571 116881571 A G SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known silent c.486 p.V162 0.933 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 106 0 0 70 26 27.0833 KCNK18 0 genome.wustl.edu 37 10 118960795 118960795 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 118960795 118960795 G A SNP KCNK18 ENST00000334549 human ensembl 74_37 +1 known missense c.349 p.V117M 0.981 pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl - no_errors KCNK18 HGNC ENSG00000186795 120 1 0.826446 128 59 31.5508 INPP5F 0 genome.wustl.edu 37 10 121587268 121587268 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 121587268 121587268 C T SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known silent c.3375 p.C1125 1.000 NULL pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 179 0 0 161 37 18.6869 TACC2 0 genome.wustl.edu 37 10 123971212 123971212 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 123971212 123971212 G A SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known silent c.7272 p.T2424 0.987 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 85 0 0 62 43 40.9524 LHPP 0 genome.wustl.edu 37 10 126172753 126172753 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 126172753 126172753 G A SNP LHPP ENST00000368842 human ensembl 74_37 +1 known silent c.171 p.S57 0.000 pfam_HAD-like_dom,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 55 0 0 38 26 40.625 CTBP2 0 genome.wustl.edu 37 10 126683183 126683183 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 126683183 126683183 T C SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known missense c.2255 p.Y752C 1.000 pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 131 0 0 109 37 25.3425 UROS 0 genome.wustl.edu 37 10 127504804 127504804 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 127504804 127504804 G A SNP UROS ENST00000368786 human ensembl 74_37 -1 known missense c.89 p.A30V 1.000 pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth - no_errors UROS HGNC ENSG00000188690 68 0 0 60 29 32.5843 BNIP3 0 genome.wustl.edu 37 10 133784230 133784230 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 133784230 133784230 T C SNP BNIP3 ENST00000368636 human ensembl 74_37 -1 known missense c.451 p.M151V 1.000 pfam_BNIP3 pfam_BNIP3 - no_errors BNIP3 HGNC ENSG00000176171 43 0 0 57 33 36.6667 INPP5A 0 genome.wustl.edu 37 10 134595560 134595560 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 134595560 134595560 C T SNP INPP5A ENST00000445580 human ensembl 74_37 +1 known silent c.261 p.H87 0.004 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors INPP5A HGNC ENSG00000068383 10 0 0 9 5 35.7143 ADAM8 0 genome.wustl.edu 37 10 135083930 135083930 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 135083930 135083930 C T SNP ADAM8 ENST00000445355 human ensembl 74_37 -1 known silent c.1719 p.A573 0.028 smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,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 ADAM8 HGNC ENSG00000151651 70 0 0 49 33 40.2439 TUBGCP2 0 genome.wustl.edu 37 10 135106172 135106172 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 135106172 135106172 C T SNP TUBGCP2 ENST00000543663 human ensembl 74_37 -1 known missense c.1129 p.E377K 1.000 pfam_TUBGCP pfam_TUBGCP,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 34 0 0 26 14 35 CUBN 0 genome.wustl.edu 37 10 17113596 17113596 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 17113596 17113596 C A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.2454 p.G818 0.996 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 68 0 0 72 43 37.3913 101928757 0 genome.wustl.edu 37 10 17865166 17865166 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 17865166 17865166 A G SNP 101928757 ENST00000457317 human ensembl 74_37 +1 known missense c.155 p.D52G 0.027 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_Ricin_B_lectin,superfamily_C-type_lectin_fold,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1L1 Clone_based_vega_gene ENSG00000183748 49 0 0 29 24 45.283 NEBL 0 genome.wustl.edu 37 10 21461280 21461280 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 21461280 21461280 C T SNP NEBL ENST00000464278 human ensembl 74_37 -1 known rna NULL NULL 0.720 - - - no_errors NEBL HGNC ENSG00000078114 30 0 0 42 21 33.3333 GPR158 0 genome.wustl.edu 37 10 25887406 25887406 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 25887406 25887406 A G SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.2851 p.T951A 0.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 237 0 0 178 95 34.7985 APBB1IP 0 genome.wustl.edu 37 10 26789948 26789948 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 26789948 26789948 A G SNP APBB1IP ENST00000376236 human ensembl 74_37 +1 known missense c.361 p.I121V 0.000 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 253 1 0.393701 180 97 35.0181 KIF5B 0 genome.wustl.edu 37 10 32306209 32306209 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 32306209 32306209 T C SNP KIF5B ENST00000302418 human ensembl 74_37 -1 known missense c.2623 p.K875E 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 203 0 0 177 101 36.3309 NRP1 0 genome.wustl.edu 37 10 33552726 33552726 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 33552726 33552726 T C SNP NRP1 ENST00000265371 human ensembl 74_37 -1 known missense c.506 p.N169S 1.000 pirsf_Neuropilin,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_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_ConA-like_lec_gl_sf,superfamily_CUB_dom,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 NRP1 HGNC ENSG00000099250 348 1 0.286533 270 134 33.1683 C10orf25 0 genome.wustl.edu 37 10 45496198 45496198 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 45496198 45496198 T C SNP C10orf25 ENST00000298298 human ensembl 74_37 -1 known missense c.110 p.N37S 0.000 NULL NULL - no_errors C10orf25 HGNC ENSG00000165511 39 0 0 33 14 29.7872 ALOX5 0 genome.wustl.edu 37 10 45938585 45938585 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 45938585 45938585 C T SNP ALOX5 ENST00000374391 human ensembl 74_37 +1 known missense c.1372 p.R458W 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom - no_errors ALOX5 HGNC ENSG00000012779 329 0 0 258 112 30.2703 SYT15 0 genome.wustl.edu 37 10 46969273 46969273 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 46969273 46969273 G A SNP SYT15 ENST00000374321 human ensembl 74_37 -1 known missense c.188 p.P63L 0.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT15 HGNC ENSG00000204176 53 0 0 57 8 12.3077 GDI2 0 genome.wustl.edu 37 10 5808594 5808594 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 5808594 5808594 G A SNP GDI2 ENST00000380132 human ensembl 74_37 -1 known silent c.1011 p.Y337 0.953 pfam_GDP_dissociation_inhibitor,prints_RabGDI pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI2 HGNC ENSG00000057608 74 0 0 88 28 24.1379 CISD1 0 genome.wustl.edu 37 10 60036948 60036948 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 60036948 60036948 T C SNP CISD1 ENST00000333926 human ensembl 74_37 +1 known missense c.103 p.Y35H 0.804 pfam_FeS-contain_mitoNEET_N pfam_FeS-contain_CDGSH-typ,pfam_FeS-contain_mitoNEET_N,smart_FeS-contain_CDGSH-typ_subfam - no_errors CISD1 HGNC ENSG00000122873 77 0 0 79 32 28.8288 ANK3 0 genome.wustl.edu 37 10 61827769 61827769 + Splice_Site SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 61827769 61827769 T C SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known splice_site c.12245-2 e38-2 1.000 - - - no_errors ANK3 HGNC ENSG00000151150 116 1 0.854701 119 50 29.5858 EGR2 0 genome.wustl.edu 37 10 64573620 64573620 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 64573620 64573620 G A SNP EGR2 ENST00000242480 human ensembl 74_37 -1 known missense c.778 p.P260S 1.000 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR2 HGNC ENSG00000122877 60 0 0 57 43 43 CTNNA3 0 genome.wustl.edu 37 10 67829230 67829230 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 67829230 67829230 C A SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known silent c.1995 p.L665 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 156 0 0 145 68 31.9249 CCAR1 0 genome.wustl.edu 37 10 70509441 70509441 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 70509441 70509441 T C SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.1117 p.C373R 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 213 0 0 180 89 33.0855 KIAA1279 0 genome.wustl.edu 37 10 70768669 70768669 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 70768669 70768669 G A SNP KIAA1279 ENST00000361983 human ensembl 74_37 +1 known missense c.862 p.A288T 0.997 pfam_KBP pfam_KBP - no_errors KIAA1279 HGNC ENSG00000198954 238 0 0 197 96 32.7645 HKDC1 0 genome.wustl.edu 37 10 71026488 71026488 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 71026488 71026488 T C SNP HKDC1 ENST00000354624 human ensembl 74_37 +1 known missense c.2729 p.L910S 0.434 NULL pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 147 0 0 137 68 33.1707 SFMBT2 0 genome.wustl.edu 37 10 7239569 7239569 + Silent SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 7239569 7239569 T G SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known silent c.1639 p.R547 0.984 pfam_DUF3588 pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 106 0 0 107 42 28.1879 CDH23 0 genome.wustl.edu 37 10 73405660 73405660 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 73405660 73405660 G A SNP CDH23 ENST00000461841 human ensembl 74_37 +1 known missense c.1348 p.V450I 0.930 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 59 0 0 37 26 41.2698 CDH23 0 genome.wustl.edu 37 10 73491866 73491866 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 73491866 73491866 A G SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.3853 p.M1285V 0.990 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 54 0 0 72 6 7.69231 CDH23 0 genome.wustl.edu 37 10 73571099 73571099 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 73571099 73571099 G A SNP CDH23 ENST00000398788 human ensembl 74_37 +1 known silent c.2385 p.K795 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 71 0 0 61 36 37.1134 OIT3 0 genome.wustl.edu 37 10 74684031 74684031 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 74684031 74684031 A G SNP OIT3 ENST00000334011 human ensembl 74_37 +1 known silent c.996 p.L332 0.175 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors OIT3 HGNC ENSG00000138315 147 0 0 117 53 31.1765 USP54 0 genome.wustl.edu 37 10 75279629 75279629 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 75279629 75279629 C T SNP USP54 ENST00000339859 human ensembl 74_37 -1 known silent c.2604 p.Q868 0.999 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 57 0 0 48 30 38.4615 SYNPO2L 0 genome.wustl.edu 37 10 75407636 75407636 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 75407636 75407636 C T SNP SYNPO2L ENST00000394810 human ensembl 74_37 -1 known missense c.1774 p.A592T 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 49 0 0 34 20 37.037 POLR3A 0 genome.wustl.edu 37 10 79761979 79761979 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 79761979 79761979 T C SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.2335 p.T779A 1.000 pfam_RNA_pol_Rpb1_4 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 16 0 0 14 10 41.6667 GRID1 0 genome.wustl.edu 37 10 87484209 87484209 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 87484209 87484209 T C SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.1758 p.I586M 0.988 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 74 0 0 64 26 28.8889 GLUD1 0 genome.wustl.edu 37 10 88820800 88820800 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 88820800 88820800 T C SNP GLUD1 ENST00000277865 human ensembl 74_37 -1 known missense c.931 p.N311D 1.000 pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH 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 GLUD1 HGNC ENSG00000148672 307 0 0 299 107 26.3547 RNLS 0 genome.wustl.edu 37 10 90342950 90342950 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 90342950 90342950 C T SNP RNLS ENST00000466945 human ensembl 74_37 -1 known rna NULL NULL 0.973 - - - no_errors RNLS HGNC ENSG00000184719 34 0 0 47 17 26.5625 NOC3L 0 genome.wustl.edu 37 10 96117944 96117944 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 96117944 96117944 T C SNP NOC3L ENST00000371350 human ensembl 74_37 -1 known silent c.246 p.E82 0.997 pirsf_Nucleolar_cplx-assoc_3 pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 - no_errors NOC3L HGNC ENSG00000173145 219 0 0 177 99 35.8696 CYP2C19 0 genome.wustl.edu 37 10 96541727 96541727 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 96541727 96541727 T C SNP CYP2C19 ENST00000371321 human ensembl 74_37 +1 known silent c.792 p.I264 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C19 HGNC ENSG00000165841 139 0 0 109 72 39.779 TM9SF3 0 genome.wustl.edu 37 10 98292872 98292872 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 98292872 98292872 A G SNP TM9SF3 ENST00000371142 human ensembl 74_37 -1 known missense c.1261 p.S421P 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 147 0 0 113 77 40.5263 MMP8 0 genome.wustl.edu 37 11 102593239 102593239 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 102593239 102593239 G A SNP MMP8 ENST00000236826 human ensembl 74_37 -1 known missense c.268 p.R90C 0.986 superfamily_Peptidoglycan-bd-like,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP8 HGNC ENSG00000118113 160 0 0 145 92 38.8186 GRIA4 0 genome.wustl.edu 37 11 105836774 105836774 + Nonsense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 105836774 105836774 G T SNP GRIA4 ENST00000393127 human ensembl 74_37 +1 known nonsense c.2395 p.G799* 1.000 pfam_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 44 0 0 44 20 31.25 DDX10 0 genome.wustl.edu 37 11 108593810 108593810 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 108593810 108593810 C T SNP DDX10 ENST00000322536 human ensembl 74_37 +1 known missense c.1586 p.A529V 0.000 NULL 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 DDX10 HGNC ENSG00000178105 57 0 0 45 23 33.8235 C11orf52 0 genome.wustl.edu 37 11 111796699 111796699 + Nonsense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 111796699 111796699 G T SNP C11orf52 ENST00000278601 human ensembl 74_37 +1 known nonsense c.148 p.G50* 0.047 NULL NULL - no_errors C11orf52 HGNC ENSG00000149300 46 0 0 31 23 42.5926 NXPE4 0 genome.wustl.edu 37 11 114453454 114453454 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 114453454 114453454 C A SNP NXPE4 ENST00000375478 human ensembl 74_37 -1 known missense c.386 p.R129L 0.000 superfamily_Ig_E-set pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE4 HGNC ENSG00000137634 104 0 0 113 51 31.0976 APOA5 0 genome.wustl.edu 37 11 116660973 116660973 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 116660973 116660973 G A SNP APOA5 ENST00000227665 human ensembl 74_37 -1 known silent c.972 p.F324 0.026 NULL pfam_ApoA1_A4_E - no_errors APOA5 HGNC ENSG00000110243 96 0 0 78 43 35.5372 SIK3 0 genome.wustl.edu 37 11 116767059 116767059 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 116767059 116767059 C T SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known missense c.775 p.G259S 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 74 0 0 90 38 29.6875 DSCAML1 0 genome.wustl.edu 37 11 117303920 117303920 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 117303920 117303920 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.5140 p.R1714W 0.981 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 65 0 0 48 23 32.3944 UBE4A 0 genome.wustl.edu 37 11 118255401 118255401 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 118255401 118255401 C A SNP UBE4A ENST00000431736 human ensembl 74_37 +1 known missense c.2270 p.P757H 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4A HGNC ENSG00000110344 82 0 0 74 24 24.4898 KMT2A 0 genome.wustl.edu 37 11 118363823 118363823 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 118363823 118363823 C T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.5047 p.R1683C 1.000 smart_Bromodomain,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 153 0 0 150 90 37.5 ARCN1 0 genome.wustl.edu 37 11 118463520 118463520 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 118463520 118463520 G A SNP ARCN1 ENST00000264028 human ensembl 74_37 +1 known missense c.1081 p.V361M 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C - no_errors ARCN1 HGNC ENSG00000095139 406 0 0 319 175 35.4251 BCL9L 0 genome.wustl.edu 37 11 118770759 118770759 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 118770759 118770759 C T SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.3273 p.M1091I 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 169 0 0 148 53 26.3682 C1QTNF5 0 genome.wustl.edu 37 11 119209960 119209960 + RNA SNP C C G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 119209960 119209960 C G SNP C1QTNF5 ENST00000525657 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors C1QTNF5 HGNC ENSG00000223953 30 0 0 28 19 40.4255 OR10G4 0 genome.wustl.edu 37 11 123886785 123886785 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 123886785 123886785 T C SNP OR10G4 ENST00000320891 human ensembl 74_37 +1 known silent c.504 p.C168 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G4 HGNC ENSG00000254737 209 0 0 194 98 33.5616 PUS3 0 genome.wustl.edu 37 11 125765567 125765567 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 125765567 125765567 G A SNP PUS3 ENST00000227474 human ensembl 74_37 -1 known missense c.496 p.R166W 1.000 pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA - no_errors PUS3 HGNC ENSG00000110060 145 0 0 120 61 33.7017 RPUSD4 0 genome.wustl.edu 37 11 126081486 126081486 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 126081486 126081486 G A SNP RPUSD4 ENST00000298317 human ensembl 74_37 -1 known silent c.48 p.N16 0.000 NULL pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom - no_errors RPUSD4 HGNC ENSG00000165526 190 0 0 214 95 30.7443 PRDM10 0 genome.wustl.edu 37 11 129775589 129775589 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 129775589 129775589 T C SNP PRDM10 ENST00000358825 human ensembl 74_37 -1 known missense c.3223 p.T1075A 0.993 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 73 0 0 30 42 58.3333 FAR1 0 genome.wustl.edu 37 11 13732384 13732384 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 13732384 13732384 G A SNP FAR1 ENST00000354817 human ensembl 74_37 +1 known silent c.690 p.S230 0.836 pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase - no_errors FAR1 HGNC ENSG00000197601 93 0 0 74 50 40.3226 PSMA1 0 genome.wustl.edu 37 11 14632684 14632684 + RNA SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 14632684 14632684 G A SNP PSMA1 ENST00000528018 human ensembl 74_37 -1 putative rna NULL NULL 0.032 - - - no_errors PSMA1 HGNC ENSG00000129084 8 0 0 8 8 50 KRTAP5-2 0 genome.wustl.edu 37 11 1619234 1619234 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 1619234 1619234 C A SNP KRTAP5-2 ENST00000412090 human ensembl 74_37 -1 known missense c.247 p.G83C 1.000 NULL NULL - no_errors KRTAP5-2 HGNC ENSG00000205867 272 1 0.3663 230 88 27.673 MRGPRX3 0 genome.wustl.edu 37 11 18159005 18159005 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 18159005 18159005 C T SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known missense c.256 p.R86C 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 115 0 0 112 55 32.9341 SYT8 0 genome.wustl.edu 37 11 1858627 1858627 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 1858627 1858627 G A SNP SYT8 ENST00000381968 human ensembl 74_37 +1 known missense c.1172 p.R391H 0.099 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT8 HGNC ENSG00000149043 37 0 0 27 16 37.2093 SLC6A5 0 genome.wustl.edu 37 11 20622906 20622906 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 20622906 20622906 T C SNP SLC6A5 ENST00000525748 human ensembl 74_37 +1 known missense c.235 p.S79P 0.587 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 12 0 0 3 6 66.6667 TH 0 genome.wustl.edu 37 11 2192945 2192945 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 2192945 2192945 C T SNP TH ENST00000381178 human ensembl 74_37 -1 known silent c.72 p.K24 1.000 pfam_Tyrosine_hydroxylase_CS,pirsf_Tyrosine_3-monooxygenase-like 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 69 0 0 56 37 39.7849 LUZP2 0 genome.wustl.edu 37 11 24518834 24518834 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 24518834 24518834 G A SNP LUZP2 ENST00000336930 human ensembl 74_37 +1 known silent c.45 p.A15 0.997 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 23 0 0 34 12 26.087 BDNF 0 genome.wustl.edu 37 11 27679694 27679694 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 27679694 27679694 C T SNP BDNF ENST00000438929 human ensembl 74_37 -1 known missense c.664 p.V222M 0.998 pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel - no_errors BDNF HGNC ENSG00000176697 179 0 0 215 84 28.0936 OSBPL5 0 genome.wustl.edu 37 11 3141754 3141754 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 3141754 3141754 G A SNP OSBPL5 ENST00000263650 human ensembl 74_37 -1 known missense c.503 p.T168M 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 122 0 0 103 38 26.9504 CAT 0 genome.wustl.edu 37 11 34470818 34470818 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 34470818 34470818 C A SNP CAT ENST00000241052 human ensembl 74_37 +1 known missense c.146 p.P49H 1.000 pfam_Catalase_core,superfamily_Catalase-like_dom,prints_Catalase pfam_Catalase_core,pfam_Catalase_immune_responsive,superfamily_Catalase-like_dom,prints_Catalase - no_errors CAT HGNC ENSG00000121691 182 1 0.546448 150 116 43.609 RAG2 0 genome.wustl.edu 37 11 36615184 36615184 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 36615184 36615184 G T SNP RAG2 ENST00000311485 human ensembl 74_37 -1 known missense c.535 p.L179M 0.381 pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD - no_errors RAG2 HGNC ENSG00000175097 224 0 0 172 112 39.4366 CHST1 0 genome.wustl.edu 37 11 45671993 45671993 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 45671993 45671993 A G SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known missense c.481 p.C161R 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 75 0 0 66 4 5.71429 CREB3L1 0 genome.wustl.edu 37 11 46338915 46338915 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 46338915 46338915 G A SNP CREB3L1 ENST00000288400 human ensembl 74_37 +1 known missense c.1135 p.A379T 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB3L1 HGNC ENSG00000157613 112 0 0 102 68 40 MYBPC3 0 genome.wustl.edu 37 11 47353733 47353733 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 47353733 47353733 A G SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known missense c.3704 p.V1235A 0.994 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 104 0 0 93 50 34.965 FOLH1 0 genome.wustl.edu 37 11 49208219 49208219 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 49208219 49208219 C T SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known missense c.616 p.G206R 1.000 pfam_Protease-assoc_domain pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 97 0 0 119 16 11.8519 OR51B2 0 genome.wustl.edu 37 11 5345074 5345074 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 5345074 5345074 C T SNP OR51B2 ENST00000328813 human ensembl 74_37 -1 known missense c.454 p.V152I 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 OR51B2 HGNC ENSG00000184881 163 0 0 132 62 31.9588 OR51I1 0 genome.wustl.edu 37 11 5462728 5462728 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 5462728 5462728 C T SNP OR51I1 ENST00000380211 human ensembl 74_37 -1 known missense c.17 p.G6D 0.267 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I1 HGNC ENSG00000167359 99 0 0 72 30 29.4118 OR4S2 0 genome.wustl.edu 37 11 55418630 55418630 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 55418630 55418630 T C SNP OR4S2 ENST00000312422 human ensembl 74_37 +1 known missense c.251 p.L84S 0.244 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 OR4S2 HGNC ENSG00000174982 299 0 0 271 170 38.5488 ENSG00000254815 0 genome.wustl.edu 37 11 559080 559080 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 559080 559080 C T SNP ENSG00000254815 ENST00000527620 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-496I9.1 Clone_based_vega_gene ENSG00000254815 16 0 0 10 9 47.3684 OR5M9 0 genome.wustl.edu 37 11 56230509 56230509 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 56230509 56230509 G A SNP OR5M9 ENST00000279791 human ensembl 74_37 -1 known silent c.369 p.A123 1.000 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 OR5M9 HGNC ENSG00000150269 137 0 0 114 60 34.4828 OR10Q1 0 genome.wustl.edu 37 11 57995687 57995687 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 57995687 57995687 C T SNP OR10Q1 ENST00000316770 human ensembl 74_37 -1 known missense c.661 p.V221I 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Q1 HGNC ENSG00000180475 71 0 0 60 31 34.0659 CNTF 0 genome.wustl.edu 37 11 58391580 58391580 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 58391580 58391580 A G SNP CNTF ENST00000361987 human ensembl 74_37 +1 known missense c.188 p.Q63R 0.000 pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core - no_errors CNTF HGNC ENSG00000242689 87 0 0 63 35 35.7143 CD5 0 genome.wustl.edu 37 11 60885876 60885876 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 60885876 60885876 C T SNP CD5 ENST00000347785 human ensembl 74_37 +1 known silent c.324 p.Y108 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Tcell_CD5,prints_SRCR - no_errors CD5 HGNC ENSG00000110448 255 0 0 193 96 33.218 DAGLA 0 genome.wustl.edu 37 11 61490373 61490373 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 61490373 61490373 T C SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.350 p.V117A 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 178 0 0 146 90 38.1356 INCENP 0 genome.wustl.edu 37 11 61908215 61908215 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 61908215 61908215 C T SNP INCENP ENST00000394818 human ensembl 74_37 +1 known silent c.1383 p.D461 0.785 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 10 0 0 13 15 53.5714 AHNAK 0 genome.wustl.edu 37 11 62301479 62301479 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 62301479 62301479 T C SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.410 p.D137G 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 113 0 0 99 44 30.7692 RARRES3 0 genome.wustl.edu 37 11 63312165 63312165 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 63312165 63312165 G A SNP RARRES3 ENST00000255688 human ensembl 74_37 +1 known missense c.191 p.R64H 0.000 pfam_LRAT-like_dom pfam_LRAT-like_dom - no_errors RARRES3 HGNC ENSG00000133321 209 0 0 149 93 38.4298 PPP1R14B 0 genome.wustl.edu 37 11 64014017 64014017 + Silent SNP C C G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 64014017 64014017 C G SNP PPP1R14B ENST00000309318 human ensembl 74_37 -1 known silent c.129 p.G43 0.000 superfamily_PP1_inhibitor pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14B HGNC ENSG00000173457 21 0 0 23 5 17.8571 CAPN1 0 genome.wustl.edu 37 11 64972271 64972271 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 64972271 64972271 G A SNP CAPN1 ENST00000279247 human ensembl 74_37 +1 known missense c.1283 p.R428H 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 71 0 0 59 33 35.8696 FRMD8 0 genome.wustl.edu 37 11 65172535 65172535 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 65172535 65172535 G T SNP FRMD8 ENST00000317568 human ensembl 74_37 +1 known missense c.1272 p.E424D 0.998 NULL pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD8 HGNC ENSG00000126391 70 0 0 51 25 32.8947 SCYL1 0 genome.wustl.edu 37 11 65298114 65298114 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 65298114 65298114 C T SNP SCYL1 ENST00000270176 human ensembl 74_37 +1 known silent c.864 p.A288 0.646 superfamily_ARM-type_fold,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors SCYL1 HGNC ENSG00000142186 60 0 0 52 31 37.3494 AP5B1 0 genome.wustl.edu 37 11 65546733 65546733 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 65546733 65546733 C T SNP AP5B1 ENST00000532090 human ensembl 74_37 -1 novel missense c.1231 p.A411T 0.607 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 45 0 0 25 15 37.5 SART1 0 genome.wustl.edu 37 11 65729303 65729303 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 65729303 65729303 G A SNP SART1 ENST00000312397 human ensembl 74_37 +1 known missense c.52 p.A18T 0.219 NULL pfam_SART_1 - no_errors SART1 HGNC ENSG00000175467 18 0 0 16 6 27.2727 CATSPER1 0 genome.wustl.edu 37 11 65788382 65788382 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 65788382 65788382 G A SNP CATSPER1 ENST00000312106 human ensembl 74_37 -1 known silent c.1827 p.D609 0.986 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER1 HGNC ENSG00000175294 89 0 0 68 36 34.6154 CD248 0 genome.wustl.edu 37 11 66084371 66084371 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 66084371 66084371 G T SNP CD248 ENST00000311330 human ensembl 74_37 -1 known missense c.128 p.T43N 0.993 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_C-type_lectin - no_errors CD248 HGNC ENSG00000174807 10 0 0 7 4 36.3636 SLC29A2 0 genome.wustl.edu 37 11 66136862 66136862 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 66136862 66136862 G T SNP SLC29A2 ENST00000357440 human ensembl 74_37 -1 known missense c.253 p.L85I 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A2 HGNC ENSG00000174669 164 0 0 129 84 39.4366 SPTBN2 0 genome.wustl.edu 37 11 66472378 66472378 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 66472378 66472378 C T SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.2369 p.R790Q 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 SPTBN2 HGNC ENSG00000173898 119 0 0 94 43 31.3869 C11orf80 0 genome.wustl.edu 37 11 66581352 66581352 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 66581352 66581352 C A SNP C11orf80 ENST00000360962 human ensembl 74_37 +1 known missense c.1055 p.P352H 1.000 NULL NULL - no_errors C11orf80 HGNC ENSG00000173715 51 0 0 46 13 22.0339 RHOD 0 genome.wustl.edu 37 11 66833381 66833381 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 66833381 66833381 G A SNP RHOD ENST00000308831 human ensembl 74_37 +1 known silent c.147 p.T49 0.104 pfam_Small_GTPase,pfam_MIRO-like,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,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 RHOD HGNC ENSG00000173156 52 0 0 38 21 35.5932 ADRBK1 0 genome.wustl.edu 37 11 67046979 67046979 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 67046979 67046979 G A SNP ADRBK1 ENST00000308595 human ensembl 74_37 +1 known missense c.355 p.A119T 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,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,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 57 0 0 55 19 25.6757 TCIRG1 0 genome.wustl.edu 37 11 67816415 67816415 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 67816415 67816415 G A SNP TCIRG1 ENST00000265686 human ensembl 74_37 +1 known missense c.1624 p.G542S 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors TCIRG1 HGNC ENSG00000110719 242 0 0 177 79 30.8594 OR2AG2 0 genome.wustl.edu 37 11 6789258 6789258 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 6789258 6789258 G A SNP OR2AG2 ENST00000338569 human ensembl 74_37 -1 known silent c.931 p.L311 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AG2 HGNC ENSG00000188124 74 0 0 68 39 36.4486 CPT1A 0 genome.wustl.edu 37 11 68548161 68548161 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 68548161 68548161 G T SNP CPT1A ENST00000265641 human ensembl 74_37 -1 known missense c.1405 p.L469I 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 67 0 0 75 34 31.1927 ANO1 0 genome.wustl.edu 37 11 70028653 70028653 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 70028653 70028653 T C SNP ANO1 ENST00000355303 human ensembl 74_37 +1 known missense c.2449 p.Y817H 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 54 0 0 37 19 33.9286 KRTAP5-8 0 genome.wustl.edu 37 11 71249264 71249264 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 71249264 71249264 G T SNP KRTAP5-8 ENST00000398534 human ensembl 74_37 +1 known missense c.163 p.G55C 0.945 NULL NULL - no_errors KRTAP5-8 HGNC ENSG00000241233 443 1 0.225225 356 188 34.5588 FOLR2 0 genome.wustl.edu 37 11 71932561 71932561 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 71932561 71932561 T G SNP FOLR2 ENST00000298223 human ensembl 74_37 +1 known missense c.523 p.Y175D 0.408 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR2 HGNC ENSG00000165457 293 0 0 210 111 34.5794 ARAP1 0 genome.wustl.edu 37 11 72424265 72424265 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 72424265 72424265 G A SNP ARAP1 ENST00000393609 human ensembl 74_37 -1 known missense c.703 p.P235S 0.287 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,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 ARAP1 HGNC ENSG00000186635 95 0 0 100 10 9.09091 C2CD3 0 genome.wustl.edu 37 11 73820094 73820094 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 73820094 73820094 T C SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known silent c.1947 p.K649 0.643 smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 115 0 0 82 51 38.3459 C2CD3 0 genome.wustl.edu 37 11 73820180 73820180 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 73820180 73820180 G A SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known nonsense c.1861 p.R621* 0.994 smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 117 0 0 61 44 41.9048 OLFML1 0 genome.wustl.edu 37 11 7531212 7531212 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 7531212 7531212 G T SNP OLFML1 ENST00000329293 human ensembl 74_37 +1 known silent c.1002 p.G334 0.005 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML1 HGNC ENSG00000183801 97 0 0 69 41 37.2727 INTS4 0 genome.wustl.edu 37 11 77667073 77667073 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 77667073 77667073 C T SNP INTS4 ENST00000534064 human ensembl 74_37 -1 known missense c.833 p.R278H 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 40 0 0 35 23 39.6552 TENM4 0 genome.wustl.edu 37 11 78369281 78369281 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 78369281 78369281 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.8132 p.R2711Q 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 88 0 0 72 49 40.4959 GRM5 0 genome.wustl.edu 37 11 88241901 88241901 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 88241901 88241901 C T SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known silent c.3498 p.P1166 0.506 pfam_Metabotropic_Glu_rcpt_Homer-bd,prints_GPCR_3_mtglu_rcpt_1 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 20 0 0 23 12 34.2857 GRM5 0 genome.wustl.edu 37 11 88300530 88300530 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 88300530 88300530 A T SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.2321 p.I774N 1.000 pfam_GPCR_3_C,prints_GPCR_3,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 231 0 0 195 132 40.367 NRIP3 0 genome.wustl.edu 37 11 9025359 9025359 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 9025359 9025359 C T SNP NRIP3 ENST00000309166 human ensembl 74_37 -1 known missense c.124 p.D42N 1.000 NULL pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom - no_errors NRIP3 HGNC ENSG00000175352 8 0 0 0 5 100 SCUBE2 0 genome.wustl.edu 37 11 9096091 9096091 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 9096091 9096091 A G SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known missense c.454 p.C152R 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 209 0 0 263 16 5.73477 FAT3 0 genome.wustl.edu 37 11 92534857 92534857 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 92534857 92534857 T C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.8678 p.V2893A 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 82 0 0 99 52 34.4371 PANX1 0 genome.wustl.edu 37 11 93913409 93913409 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 93913409 93913409 C T SNP PANX1 ENST00000227638 human ensembl 74_37 +1 known missense c.1187 p.T396M 0.000 NULL pfam_Innexin,pfscan_Innexin - no_errors PANX1 HGNC ENSG00000110218 105 0 0 100 37 27.0073 MRE11A 0 genome.wustl.edu 37 11 94224123 94224123 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 94224123 94224123 T C SNP MRE11A ENST00000323929 human ensembl 74_37 -1 known missense c.29 p.E10G 1.000 pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 pfam_Mre11_DNA-bd,pfam_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 - no_errors MRE11A HGNC ENSG00000020922 29 0 0 29 13 30.9524 SESN3 0 genome.wustl.edu 37 11 94910901 94910901 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 94910901 94910901 T C SNP SESN3 ENST00000536441 human ensembl 74_37 -1 known missense c.1229 p.H410R 1.000 pfam_PA26 pfam_PA26 - no_errors SESN3 HGNC ENSG00000149212 74 0 0 58 40 40.8163 ZNF143 0 genome.wustl.edu 37 11 9530309 9530309 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 9530309 9530309 A G SNP ZNF143 ENST00000396602 human ensembl 74_37 +1 known missense c.1291 p.T431A 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF143 HGNC ENSG00000166478 31 0 0 24 13 35.1351 AP2A2 0 genome.wustl.edu 37 11 959505 959505 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 959505 959505 G T SNP AP2A2 ENST00000332231 human ensembl 74_37 +1 known missense c.136 p.G46C 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 33 0 0 23 20 46.5116 RAD52 0 genome.wustl.edu 37 12 1036391 1036391 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 1036391 1036391 A G SNP RAD52 ENST00000358495 human ensembl 74_37 -1 known silent c.387 p.S129 0.988 pfam_Rad52_Rad22,tigrfam_DNA_recomb/repair_Rad52 pfam_Rad52_Rad22,tigrfam_DNA_recomb/repair_Rad52 - no_errors RAD52 HGNC ENSG00000002016 300 0 0 248 92 27.0588 NT5DC3 0 genome.wustl.edu 37 12 104200659 104200659 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 104200659 104200659 G A SNP NT5DC3 ENST00000392876 human ensembl 74_37 -1 known missense c.442 p.R148C 0.945 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC3 HGNC ENSG00000111696 95 0 0 49 22 30.9859 ASCL4 0 genome.wustl.edu 37 12 108169229 108169229 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 108169229 108169229 C T SNP ASCL4 ENST00000342331 human ensembl 74_37 +1 known silent c.237 p.N79 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 ASCL4 HGNC ENSG00000187855 9 0 0 8 6 42.8571 DAO 0 genome.wustl.edu 37 12 109278888 109278888 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 109278888 109278888 G A SNP DAO ENST00000228476 human ensembl 74_37 +1 known missense c.106 p.A36T 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DAO HGNC ENSG00000110887 174 0 0 132 90 40.5405 ACACB 0 genome.wustl.edu 37 12 109702084 109702084 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 109702084 109702084 C T SNP ACACB ENST00000338432 human ensembl 74_37 +1 known silent c.6835 p.L2279 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 258 0 0 211 109 34.0625 TRPV4 0 genome.wustl.edu 37 12 110232159 110232159 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 110232159 110232159 G A SNP TRPV4 ENST00000261740 human ensembl 74_37 -1 known missense c.1466 p.A489V 1.000 prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 70 0 0 81 37 31.3559 TRPV4 0 genome.wustl.edu 37 12 110240832 110240832 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 110240832 110240832 A G SNP TRPV4 ENST00000261740 human ensembl 74_37 -1 known missense c.676 p.F226L 1.000 prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 56 0 0 47 23 32.8571 SUDS3 0 genome.wustl.edu 37 12 118841306 118841306 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 118841306 118841306 T C SNP SUDS3 ENST00000397564 human ensembl 74_37 +1 known missense c.790 p.Y264H 1.000 NULL pfam_Sds3 - no_errors SUDS3 HGNC ENSG00000111707 34 0 0 39 3 7.14286 GCN1L1 0 genome.wustl.edu 37 12 120567103 120567103 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 120567103 120567103 G A SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.7867 p.R2623W 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 262 0 0 180 111 38.1443 PXN 0 genome.wustl.edu 37 12 120660799 120660799 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 120660799 120660799 G A SNP PXN ENST00000267257 human ensembl 74_37 -1 known silent c.360 p.F120 1.000 prints_Paxillin pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin - no_errors PXN HGNC ENSG00000089159 71 0 0 92 34 26.9841 GATC 0 genome.wustl.edu 37 12 120894950 120894950 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 120894950 120894950 G A SNP GATC ENST00000551765 human ensembl 74_37 +1 known missense c.326 p.R109H 0.000 pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu - no_errors GATC HGNC ENSG00000257218 74 0 0 61 22 26.506 RHOF 0 genome.wustl.edu 37 12 122219030 122219030 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 122219030 122219030 C T SNP RHOF ENST00000267205 human ensembl 74_37 -1 known missense c.295 p.D99N 0.999 pfam_Small_GTPase,pfam_MIRO-like,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,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOF HGNC ENSG00000139725 92 0 0 80 29 26.6055 WDR66 0 genome.wustl.edu 37 12 122395142 122395142 + Missense_Mutation SNP C C G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 122395142 122395142 C G SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known missense c.1698 p.D566E 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 186 0 0 159 61 27.7273 BCL2L14 0 genome.wustl.edu 37 12 12247797 12247797 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 12247797 12247797 T C SNP BCL2L14 ENST00000308721 human ensembl 74_37 +1 known missense c.878 p.V293A 1.000 pfscan_Bcl2-like pfscan_Bcl2-like - no_errors BCL2L14 HGNC ENSG00000121380 89 0 0 81 63 43.75 KNTC1 0 genome.wustl.edu 37 12 123073263 123073263 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 123073263 123073263 T C SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known missense c.3899 p.F1300S 0.999 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 12 0 0 5 5 50 HIP1R 0 genome.wustl.edu 37 12 123333393 123333393 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 123333393 123333393 C T SNP HIP1R ENST00000253083 human ensembl 74_37 +1 known silent c.351 p.D117 0.765 pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1R HGNC ENSG00000130787 43 0 0 39 24 38.0952 SNRNP35 0 genome.wustl.edu 37 12 123950369 123950369 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 123950369 123950369 C T SNP SNRNP35 ENST00000412157 human ensembl 74_37 +1 known silent c.297 p.Y99 0.916 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRNP35 HGNC ENSG00000184209 93 0 0 88 49 35.7664 PIWIL1 0 genome.wustl.edu 37 12 130846109 130846109 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 130846109 130846109 G A SNP PIWIL1 ENST00000245255 human ensembl 74_37 +1 known missense c.1933 p.A645T 0.994 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 136 0 0 102 50 32.8947 LMO3 0 genome.wustl.edu 37 12 16713448 16713448 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 16713448 16713448 G A SNP LMO3 ENST00000453727 human ensembl 74_37 -1 known missense c.172 p.R58C 1.000 pfam_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO3 HGNC ENSG00000048540 85 0 0 89 50 35.9712 RECQL 0 genome.wustl.edu 37 12 21628712 21628712 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 21628712 21628712 A G SNP RECQL ENST00000421138 human ensembl 74_37 -1 known silent c.996 p.V332 0.016 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 62 0 0 71 4 5.33333 KRAS 0 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 25398281 25398281 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.38 p.G13D 1.000 pfam_Small_GTPase,pfam_MIRO-like,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_EF_GTP-bd_dom,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 KRAS HGNC ENSG00000133703 24 0 0 21 5 19.2308 CACNA1C 0 genome.wustl.edu 37 12 2692102 2692102 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 2692102 2692102 G A SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.2218 p.G740R 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 17 0 0 9 8 47.0588 CACNA1C 0 genome.wustl.edu 37 12 2764356 2764356 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 2764356 2764356 G A SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.4184 p.R1395Q 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 45 0 0 50 21 29.5775 FKBP4 0 genome.wustl.edu 37 12 2907948 2907948 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 2907948 2907948 G A SNP FKBP4 ENST00000001008 human ensembl 74_37 +1 known missense c.470 p.R157H 0.995 NULL pfam_PPIase_FKBP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP4 HGNC ENSG00000004478 138 0 0 112 60 34.8837 ITFG2 0 genome.wustl.edu 37 12 2929961 2929961 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 2929961 2929961 G A SNP ITFG2 ENST00000228799 human ensembl 74_37 +1 known silent c.618 p.A206 0.959 superfamily_WD40_repeat_dom pfam_FG-GAP,superfamily_WD40_repeat_dom - no_errors ITFG2 HGNC ENSG00000111203 71 0 0 74 42 36.2069 ABCD2 0 genome.wustl.edu 37 12 40013372 40013372 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 40013372 40013372 T C SNP ABCD2 ENST00000308666 human ensembl 74_37 -1 known missense c.46 p.R16G 0.992 NULL pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCD2 HGNC ENSG00000173208 91 0 0 111 45 28.8462 PRICKLE1 0 genome.wustl.edu 37 12 42859016 42859016 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 42859016 42859016 C T SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.820 p.A274T 1.000 pfam_Znf_LIM,smart_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 96 0 0 73 45 38.1356 KDM5A 0 genome.wustl.edu 37 12 442691 442691 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 442691 442691 T C SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known missense c.1615 p.I539V 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 111 0 0 113 46 28.9308 SLC38A4 0 genome.wustl.edu 37 12 47178327 47178327 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 47178327 47178327 C T SNP SLC38A4 ENST00000266579 human ensembl 74_37 -1 known missense c.491 p.G164E 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 132 0 0 105 66 38.5965 ADCY6 0 genome.wustl.edu 37 12 49167430 49167430 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 49167430 49167430 A G SNP ADCY6 ENST00000307885 human ensembl 74_37 -1 known missense c.2443 p.Y815H 1.000 NULL 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 60 0 0 50 15 23.0769 ENSG00000257913 0 genome.wustl.edu 37 12 49412544 49412544 + RNA SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 49412544 49412544 G A SNP ENSG00000257913 ENST00000547866 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-386G11.5 Clone_based_vega_gene ENSG00000257913 113 0 0 79 39 33.0508 KMT2D 0 genome.wustl.edu 37 12 49434800 49434800 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 49434800 49434800 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known silent c.6753 p.S2251 0.876 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 69 0 0 66 23 25.8427 DIP2B 0 genome.wustl.edu 37 12 51100412 51100412 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 51100412 51100412 T C SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.2498 p.L833S 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 153 0 0 131 85 39.3519 KCNA5 0 genome.wustl.edu 37 12 5153819 5153819 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 5153819 5153819 G A SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.506 p.R169Q 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 81 0 0 66 38 36.5385 SLC4A8 0 genome.wustl.edu 37 12 51865099 51865099 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 51865099 51865099 C T SNP SLC4A8 ENST00000453097 human ensembl 74_37 +1 known nonsense c.1687 p.R563* 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A8 HGNC ENSG00000050438 297 0 0 237 162 40.6015 KRT75 0 genome.wustl.edu 37 12 52827847 52827847 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 52827847 52827847 C T SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.242 p.R81Q 0.124 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 89 0 0 64 35 35.3535 KRT74 0 genome.wustl.edu 37 12 52960950 52960950 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 52960950 52960950 C A SNP KRT74 ENST00000305620 human ensembl 74_37 -1 known missense c.1393 p.V465F 0.698 NULL pfam_IF,prints_Keratin_II - no_errors KRT74 HGNC ENSG00000170484 32 0 0 14 14 50 KRT8 0 genome.wustl.edu 37 12 53298699 53298699 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 53298699 53298699 G A SNP KRT8 ENST00000293308 human ensembl 74_37 -1 known missense c.67 p.R23C 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 32 0 0 41 4 8.88889 AMHR2 0 genome.wustl.edu 37 12 53818978 53818978 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 53818978 53818978 C T SNP AMHR2 ENST00000257863 human ensembl 74_37 +1 known silent c.454 p.L152 1.000 pirsf_Anti-muellerian_hrmn_rcpt_II pirsf_Anti-muellerian_hrmn_rcpt_II,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 - no_errors AMHR2 HGNC ENSG00000135409 183 0 0 116 58 33.3333 ERBB3 0 genome.wustl.edu 37 12 56489571 56489571 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 56489571 56489571 G A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.2036 p.R679Q 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 165 0 0 135 76 36.019 ANKRD52 0 genome.wustl.edu 37 12 56642611 56642611 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 56642611 56642611 G A SNP ANKRD52 ENST00000267116 human ensembl 74_37 -1 known missense c.1636 p.R546W 1.000 superfamily_Ankyrin_rpt-contain_dom,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 ANKRD52 HGNC ENSG00000139645 9 0 0 15 6 28.5714 MYO1A 0 genome.wustl.edu 37 12 57435035 57435035 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 57435035 57435035 T A SNP MYO1A ENST00000300119 human ensembl 74_37 -1 known missense c.1202 p.N401I 1.000 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_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 111 0 0 86 48 35.8209 ARHGAP9 0 genome.wustl.edu 37 12 57871291 57871291 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 57871291 57871291 A G SNP ARHGAP9 ENST00000356411 human ensembl 74_37 -1 known missense c.707 p.L236P 0.954 superfamily_WW_dom,pfscan_WW_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP9 HGNC ENSG00000123329 122 0 0 87 37 29.8387 DCTN2 0 genome.wustl.edu 37 12 57924555 57924555 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 57924555 57924555 G A SNP DCTN2 ENST00000434715 human ensembl 74_37 -1 known nonsense c.1138 p.Q380* 1.000 NULL NULL - no_errors DCTN2 HGNC ENSG00000175203 174 0 0 129 74 36.4532 MON2 0 genome.wustl.edu 37 12 62954787 62954787 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 62954787 62954787 T C SNP MON2 ENST00000393630 human ensembl 74_37 +1 known missense c.3929 p.V1310A 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 159 0 0 178 42 19.0909 CD9 0 genome.wustl.edu 37 12 6309658 6309658 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 6309658 6309658 C T SNP CD9 ENST00000538834 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CD9 HGNC ENSG00000010278 54 0 0 55 18 24.6575 CHD4 0 genome.wustl.edu 37 12 6692419 6692419 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 6692419 6692419 T G SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.4005 p.K1335N 1.000 pfam_DUF1087 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 353 1 0.282486 283 174 38.0744 CHD4 0 genome.wustl.edu 37 12 6707515 6707515 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 6707515 6707515 G T SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.1559 p.P520H 1.000 superfamily_Chromodomain-like,smart_Chromo_domain/shadow 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 365 0 0 263 136 34.0852 ACRBP 0 genome.wustl.edu 37 12 6753468 6753468 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 6753468 6753468 G T SNP ACRBP ENST00000229243 human ensembl 74_37 -1 known missense c.779 p.S260Y 0.001 NULL pfam_Proacrosin-bd - no_errors ACRBP HGNC ENSG00000111644 74 0 0 70 51 42.1488 RAP1B 0 genome.wustl.edu 37 12 69050939 69050939 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 69050939 69050939 G A SNP RAP1B ENST00000250559 human ensembl 74_37 +1 known missense c.527 p.R176H 1.000 superfamily_P-loop_NTPase,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,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 RAP1B HGNC ENSG00000127314 255 0 0 206 99 32.459 RAB3IP 0 genome.wustl.edu 37 12 70149312 70149312 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 70149312 70149312 C T SNP RAB3IP ENST00000550536 human ensembl 74_37 +1 known missense c.172 p.R58W 1.000 NULL pfam_Sec2p - no_errors RAB3IP HGNC ENSG00000127328 158 0 0 128 73 36.3184 ATN1 0 genome.wustl.edu 37 12 7044832 7044832 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 7044832 7044832 T C SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known silent c.402 p.S134 1.000 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 99 0 0 73 33 31.1321 NAV3 0 genome.wustl.edu 37 12 78513556 78513556 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 78513556 78513556 G A SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.3580 p.V1194I 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 99 0 0 89 52 36.8794 PPFIA2 0 genome.wustl.edu 37 12 81688718 81688718 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 81688718 81688718 T C SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.2821 p.R941G 1.000 pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 32 0 0 36 14 28 PPFIA2 0 genome.wustl.edu 37 12 81839401 81839401 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 81839401 81839401 G T SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known silent c.504 p.S168 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 65 0 0 63 31 32.9787 CLEC4A 0 genome.wustl.edu 37 12 8290795 8290795 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 8290795 8290795 G A SNP CLEC4A ENST00000229332 human ensembl 74_37 +1 known missense c.626 p.R209H 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4A HGNC ENSG00000111729 168 0 0 160 80 33.3333 SLC6A15 0 genome.wustl.edu 37 12 85277601 85277601 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 85277601 85277601 T C SNP SLC6A15 ENST00000450363 human ensembl 74_37 -1 known missense c.793 p.T265A 0.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A15 HGNC ENSG00000072041 89 0 0 91 46 33.5766 RIMKLB 0 genome.wustl.edu 37 12 8926340 8926340 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 8926340 8926340 A G SNP RIMKLB ENST00000357529 human ensembl 74_37 +1 known missense c.1121 p.N374S 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 126 0 0 115 35 23.3333 CCDC41 0 genome.wustl.edu 37 12 94772812 94772812 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 94772812 94772812 T C SNP CCDC41 ENST00000339839 human ensembl 74_37 -1 known missense c.556 p.R186G 0.998 NULL NULL - no_errors CCDC41 HGNC ENSG00000173588 94 0 0 88 49 35.7664 LIG4 0 genome.wustl.edu 37 13 108862651 108862651 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 108862651 108862651 A G SNP LIG4 ENST00000356922 human ensembl 74_37 -1 known silent c.966 p.D322 0.016 pfam_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,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_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 135 0 0 111 62 35.8382 PCID2 0 genome.wustl.edu 37 13 113851504 113851504 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 113851504 113851504 G A SNP PCID2 ENST00000246505 human ensembl 74_37 -1 known missense c.254 p.T85I 1.000 NULL pfam_PCI_dom,smart_PAM - no_errors PCID2 HGNC ENSG00000126226 202 0 0 183 92 33.4545 TMEM255B 0 genome.wustl.edu 37 13 114507949 114507949 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 114507949 114507949 G A SNP TMEM255B ENST00000375353 human ensembl 74_37 +1 known missense c.761 p.R254H 1.000 NULL NULL - no_errors TMEM255B HGNC ENSG00000184497 82 0 0 54 39 41.9355 MICU2 0 genome.wustl.edu 37 13 22178154 22178154 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 22178154 22178154 G A SNP MICU2 ENST00000382374 human ensembl 74_37 -1 known missense c.134 p.A45V 0.819 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU2 HGNC ENSG00000165487 28 0 0 23 13 36.1111 NUPL1 0 genome.wustl.edu 37 13 25911075 25911075 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 25911075 25911075 G A SNP NUPL1 ENST00000381736 human ensembl 74_37 +1 known silent c.1437 p.G479 1.000 NULL NULL - no_errors NUPL1 HGNC ENSG00000139496 37 0 0 47 30 38.961 SLC46A3 0 genome.wustl.edu 37 13 29286869 29286869 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 29286869 29286869 C A SNP SLC46A3 ENST00000266943 human ensembl 74_37 -1 known missense c.1008 p.M336I 0.073 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC ENSG00000139508 150 0 0 117 69 37.0968 MTUS2 0 genome.wustl.edu 37 13 30077281 30077281 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 30077281 30077281 G A SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.4078 p.V1360I 0.264 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 67 0 0 62 30 32.6087 NBEA 0 genome.wustl.edu 37 13 35716483 35716483 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 35716483 35716483 T C SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.2414 p.V805A 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 142 0 0 139 77 35.6481 MAB21L1 0 genome.wustl.edu 37 13 36049859 36049859 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 36049859 36049859 C T SNP MAB21L1 ENST00000379919 human ensembl 74_37 -1 known silent c.417 p.A139 0.956 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 53 0 0 58 30 34.0909 DCLK1 0 genome.wustl.edu 37 13 36700166 36700166 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 36700166 36700166 C T SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.109 p.A37T 1.000 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 112 0 0 136 49 26.4865 SERTM1 0 genome.wustl.edu 37 13 37269461 37269461 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 37269461 37269461 C T SNP SERTM1 ENST00000315190 human ensembl 74_37 +1 known silent c.246 p.D82 0.809 NULL NULL - no_errors SERTM1 HGNC ENSG00000180440 179 0 0 151 90 37.3444 POSTN 0 genome.wustl.edu 37 13 38160400 38160400 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 38160400 38160400 C T SNP POSTN ENST00000379747 human ensembl 74_37 -1 known silent c.771 p.S257 0.546 pfam_FAS1_domain,superfamily_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 81 0 0 77 40 34.188 AKAP11 0 genome.wustl.edu 37 13 42876041 42876041 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 42876041 42876041 A G SNP AKAP11 ENST00000025301 human ensembl 74_37 +1 known silent c.3159 p.T1053 0.000 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 172 0 0 170 65 27.6596 ENOX1 0 genome.wustl.edu 37 13 43934001 43934001 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 43934001 43934001 G A SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known missense c.575 p.A192V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 148 0 0 126 54 30 SPERT 0 genome.wustl.edu 37 13 46287374 46287374 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 46287374 46287374 G A SNP SPERT ENST00000310521 human ensembl 74_37 +1 known missense c.214 p.A72T 0.008 NULL NULL - no_errors SPERT HGNC ENSG00000174015 60 0 0 57 32 35.9551 SPERT 0 genome.wustl.edu 37 13 46287395 46287395 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 46287395 46287395 C T SNP SPERT ENST00000310521 human ensembl 74_37 +1 known missense c.235 p.R79W 0.598 NULL NULL - no_errors SPERT HGNC ENSG00000174015 61 0 0 62 34 35.4167 SETDB2 0 genome.wustl.edu 37 13 50062611 50062611 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 50062611 50062611 C T SNP SETDB2 ENST00000317257 human ensembl 74_37 +1 known nonsense c.1798 p.R600* 0.139 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom 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 111 0 0 77 52 40.3101 FAM124A 0 genome.wustl.edu 37 13 51854685 51854685 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 51854685 51854685 A G SNP FAM124A ENST00000280057 human ensembl 74_37 +1 known missense c.1042 p.S348G 0.029 NULL NULL - no_errors FAM124A HGNC ENSG00000150510 47 0 0 67 4 5.6338 UTP14C 0 genome.wustl.edu 37 13 52603377 52603377 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 52603377 52603377 T C SNP UTP14C ENST00000521776 human ensembl 74_37 +1 known missense c.437 p.I146T 0.002 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC ENSG00000253797 125 0 0 114 48 29.6296 PCDH8 0 genome.wustl.edu 37 13 53420526 53420526 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 53420526 53420526 G A SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known silent c.2046 p.P682 0.000 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 PCDH8 HGNC ENSG00000136099 19 0 0 17 13 43.3333 PCDH20 0 genome.wustl.edu 37 13 61987878 61987878 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 61987878 61987878 G T SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known silent c.354 p.S118 0.978 pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 27 0 0 32 20 38.4615 MYCBP2 0 genome.wustl.edu 37 13 77672481 77672481 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 77672481 77672481 G A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known silent c.8808 p.C2936 0.772 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 145 1 0.684932 134 80 37.3832 MYCBP2 0 genome.wustl.edu 37 13 77900654 77900654 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 77900654 77900654 T A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.257 p.N86I 1.000 NULL pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 33 0 0 35 19 35.1852 PTMAP5 0 genome.wustl.edu 37 13 82265002 82265002 + RNA SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 82265002 82265002 T C SNP PTMAP5 ENST00000607242 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors PTMAP5 HGNC ENSG00000214182 88 0 0 145 24 14.2012 SLITRK1 0 genome.wustl.edu 37 13 84453749 84453749 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 84453749 84453749 C T SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1894 p.A632T 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 37 0 0 36 15 29.4118 SLITRK1 0 genome.wustl.edu 37 13 84455314 84455314 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 84455314 84455314 C A SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.329 p.R110M 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 144 0 0 100 89 47.0899 GPC6 0 genome.wustl.edu 37 13 95034795 95034795 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 95034795 95034795 G T SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.1280 p.S427I 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 126 0 0 107 43 28.6667 BEGAIN 0 genome.wustl.edu 37 14 101005631 101005631 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 101005631 101005631 G A SNP BEGAIN ENST00000355173 human ensembl 74_37 -1 known missense c.457 p.R153C 1.000 NULL superfamily_Prefoldin - no_errors BEGAIN HGNC ENSG00000183092 32 0 0 37 27 42.1875 RTL1 0 genome.wustl.edu 37 14 101347381 101347381 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 101347381 101347381 G A SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known missense c.3745 p.H1249Y 1.000 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 11 0 0 10 8 44.4444 RTL1 0 genome.wustl.edu 37 14 101348236 101348236 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 101348236 101348236 C T SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known missense c.2890 p.V964I 1.000 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 160 0 0 142 53 27.1795 DIO3OS 0 genome.wustl.edu 37 14 102026620 102026620 + RNA SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 102026620 102026620 G A SNP DIO3OS ENST00000553729 human ensembl 74_37 -1 known rna NULL NULL 0.938 - - - no_errors DIO3OS HGNC ENSG00000258498 16 0 0 19 5 20.8333 MARK3 0 genome.wustl.edu 37 14 103941357 103941357 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 103941357 103941357 C T SNP MARK3 ENST00000429436 human ensembl 74_37 +1 known missense c.1292 p.A431V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK3 HGNC ENSG00000075413 59 0 0 37 19 33.9286 MARK3 0 genome.wustl.edu 37 14 103941521 103941521 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 103941521 103941521 C T SNP MARK3 ENST00000429436 human ensembl 74_37 +1 known missense c.1456 p.R486C 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK3 HGNC ENSG00000075413 59 0 0 60 31 34.0659 KIF26A 0 genome.wustl.edu 37 14 104639382 104639382 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 104639382 104639382 T C SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known missense c.1489 p.S497P 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,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 17 0 0 17 7 29.1667 ADSSL1 0 genome.wustl.edu 37 14 105206963 105206963 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 105206963 105206963 G A SNP ADSSL1 ENST00000332972 human ensembl 74_37 +1 known missense c.631 p.G211R 1.000 pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSSL1 HGNC ENSG00000185100 178 1 0.558659 117 69 37.0968 CEP170B 0 genome.wustl.edu 37 14 105353032 105353032 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 105353032 105353032 G T SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known missense c.2459 p.G820V 0.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 39 0 0 48 11 18.6441 AHNAK2 0 genome.wustl.edu 37 14 105419601 105419601 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 105419601 105419601 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.2187 p.S729 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 201 0 0 201 109 35.1613 RNASE9 0 genome.wustl.edu 37 14 21025060 21025060 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 21025060 21025060 C T SNP RNASE9 ENST00000338904 human ensembl 74_37 -1 known missense c.169 p.A57T 0.008 superfamily_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE9 HGNC ENSG00000188655 200 0 0 189 117 38.2353 RNASE2 0 genome.wustl.edu 37 14 21423932 21423932 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 21423932 21423932 T C SNP RNASE2 ENST00000304625 human ensembl 74_37 +1 known missense c.2 p.M1T 0.540 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE2 HGNC ENSG00000169385 222 0 0 183 78 29.8851 ARHGEF40 0 genome.wustl.edu 37 14 21555481 21555481 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 21555481 21555481 G A SNP ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known missense c.4246 p.A1416T 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 190 0 0 141 79 35.9091 PAX9 0 genome.wustl.edu 37 14 37132606 37132606 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 37132606 37132606 C T SNP PAX9 ENST00000361487 human ensembl 74_37 +1 known missense c.509 p.A170V 0.179 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX9 HGNC ENSG00000198807 51 0 0 50 18 26.4706 POLE2 0 genome.wustl.edu 37 14 50131378 50131378 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 50131378 50131378 A G SNP POLE2 ENST00000216367 human ensembl 74_37 -1 known silent c.648 p.G216 0.974 pirsf_DNA_pol_e_bsu pfam_DNA_pol_alpha/epsilon_bsu,pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu - no_errors POLE2 HGNC ENSG00000100479 165 0 0 105 58 35.5828 DLGAP5 0 genome.wustl.edu 37 14 55650367 55650367 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 55650367 55650367 G A SNP DLGAP5 ENST00000247191 human ensembl 74_37 -1 known nonsense c.343 p.R115* 0.141 NULL pfam_GKAP - no_errors DLGAP5 HGNC ENSG00000126787 63 0 0 53 27 33.75 ACTR10 0 genome.wustl.edu 37 14 58669640 58669640 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 58669640 58669640 C T SNP ACTR10 ENST00000254286 human ensembl 74_37 +1 known missense c.145 p.P49S 0.998 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR10 HGNC ENSG00000131966 169 0 0 149 65 30.3738 TRMT5 0 genome.wustl.edu 37 14 61446155 61446155 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 61446155 61446155 G A SNP TRMT5 ENST00000261249 human ensembl 74_37 -1 known missense c.461 p.A154V 0.072 NULL pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT5 HGNC ENSG00000126814 176 0 0 169 103 37.8676 TRMT5 0 genome.wustl.edu 37 14 61446156 61446156 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 61446156 61446156 C T SNP TRMT5 ENST00000261249 human ensembl 74_37 -1 known missense c.460 p.A154T 0.007 NULL pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT5 HGNC ENSG00000126814 176 0 0 170 101 37.2694 HSPA2 0 genome.wustl.edu 37 14 65008542 65008542 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 65008542 65008542 C T SNP HSPA2 ENST00000247207 human ensembl 74_37 +1 known silent c.975 p.R325 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 49 0 0 48 28 36.8421 ENSG00000259076 0 genome.wustl.edu 37 14 65019585 65019585 + RNA SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 65019585 65019585 T A SNP ENSG00000259076 ENST00000554454 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-973N13.3 Clone_based_vega_gene ENSG00000259076 60 0 0 52 21 28.7671 GPHN 0 genome.wustl.edu 37 14 66975274 66975274 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 66975274 66975274 A G SNP GPHN ENST00000478722 human ensembl 74_37 +1 known missense c.29 p.N10S 1.000 NULL pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis - no_errors GPHN HGNC ENSG00000171723 125 0 0 189 10 5.02513 PNMA1 0 genome.wustl.edu 37 14 74179954 74179954 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 74179954 74179954 G A SNP PNMA1 ENST00000316836 human ensembl 74_37 -1 known missense c.389 p.P130L 0.102 NULL superfamily_Globin-like - no_errors PNMA1 HGNC ENSG00000176903 212 0 0 176 82 31.7829 DLST 0 genome.wustl.edu 37 14 75361033 75361033 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 75361033 75361033 C T SNP DLST ENST00000334220 human ensembl 74_37 +1 known missense c.691 p.R231W 1.000 pfam_2-oxoacid_DH_actylTfrase,tigrfam_SucB pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_SucB - no_errors DLST HGNC ENSG00000119689 214 0 0 139 67 32.5243 BATF 0 genome.wustl.edu 37 14 75991481 75991481 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 75991481 75991481 G A SNP BATF ENST00000286639 human ensembl 74_37 +1 known missense c.118 p.A40T 1.000 pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors BATF HGNC ENSG00000156127 34 0 0 29 20 40.8163 TTLL5 0 genome.wustl.edu 37 14 76368497 76368497 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 76368497 76368497 G A SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known silent c.3753 p.A1251 0.106 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 100 0 0 90 54 37.5 IFT43 0 genome.wustl.edu 37 14 76549611 76549611 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 76549611 76549611 G A SNP IFT43 ENST00000238628 human ensembl 74_37 +1 known silent c.501 p.A167 0.001 NULL NULL - no_errors IFT43 HGNC ENSG00000119650 54 0 0 45 19 29.6875 IRF2BPL 0 genome.wustl.edu 37 14 77493111 77493111 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 77493111 77493111 C T SNP IRF2BPL ENST00000238647 human ensembl 74_37 -1 known missense c.1025 p.R342H 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 34 0 0 35 22 38.5965 NRXN3 0 genome.wustl.edu 37 14 79181267 79181267 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 79181267 79181267 G A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.1823 p.C608Y 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 71 0 0 57 29 33.7209 TSHR 0 genome.wustl.edu 37 14 81610680 81610680 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 81610680 81610680 A G SNP TSHR ENST00000298171 human ensembl 74_37 +1 known missense c.2278 p.M760V 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 118 0 0 112 29 20.5674 GTF2A1 0 genome.wustl.edu 37 14 81670341 81670341 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 81670341 81670341 C A SNP GTF2A1 ENST00000553612 human ensembl 74_37 -1 known missense c.240 p.Q80H 0.972 pfam_TFIIA_asu/bsu pfam_TFIIA_asu/bsu,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx - no_errors GTF2A1 HGNC ENSG00000165417 34 0 0 40 30 42.8571 STON2 0 genome.wustl.edu 37 14 81743536 81743536 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 81743536 81743536 G A SNP STON2 ENST00000267540 human ensembl 74_37 -1 known silent c.2119 p.L707 1.000 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 174 0 0 127 65 33.8542 STON2 0 genome.wustl.edu 37 14 81837500 81837500 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 81837500 81837500 A G SNP STON2 ENST00000267540 human ensembl 74_37 -1 known missense c.403 p.C135R 0.996 pfam_Stonin2_N,pirsf_Stonin pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 119 0 0 100 54 35.0649 CCDC88C 0 genome.wustl.edu 37 14 91770131 91770131 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 91770131 91770131 G A SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known silent c.3549 p.A1183 0.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 40 0 0 26 21 44.6809 CPSF2 0 genome.wustl.edu 37 14 92597333 92597333 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 92597333 92597333 C T SNP CPSF2 ENST00000298875 human ensembl 74_37 +1 known missense c.5 p.T2M 1.000 NULL pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors CPSF2 HGNC ENSG00000165934 162 0 0 129 64 33.1606 GSC 0 genome.wustl.edu 37 14 95235311 95235311 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 95235311 95235311 C T SNP GSC ENST00000238558 human ensembl 74_37 -1 known missense c.599 p.R200H 0.994 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors GSC HGNC ENSG00000133937 14 0 0 3 5 62.5 CLMN 0 genome.wustl.edu 37 14 95670617 95670617 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 95670617 95670617 C T SNP CLMN ENST00000298912 human ensembl 74_37 -1 known missense c.1069 p.E357K 0.202 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 167 0 0 152 59 27.9621 ATG2B 0 genome.wustl.edu 37 14 96797967 96797967 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 96797967 96797967 T C SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known silent c.1476 p.P492 0.001 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 66 0 0 59 28 32.1839 ADAMTS17 0 genome.wustl.edu 37 15 100801716 100801716 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 100801716 100801716 C T SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known silent c.999 p.P333 0.005 pfscan_Peptidase_M12B pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 62 0 0 65 24 26.9663 TARSL2 0 genome.wustl.edu 37 15 102241308 102241308 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 102241308 102241308 G A SNP TARSL2 ENST00000335968 human ensembl 74_37 -1 known missense c.1301 p.T434M 1.000 pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARSL2 HGNC ENSG00000185418 62 0 0 51 22 30.137 DNM1P47 0 genome.wustl.edu 37 15 102292708 102292708 + RNA SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 102292708 102292708 T C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 23 0 0 46 4 8 CHEK2P2 0 genome.wustl.edu 37 15 20488860 20488860 + RNA SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 20488860 20488860 G T SNP CHEK2P2 ENST00000555186 human ensembl 74_37 +1 known rna NULL NULL 0.942 - - - no_errors CHEK2P2 HGNC ENSG00000259156 239 0 0 217 32 12.8514 MKRN3 0 genome.wustl.edu 37 15 23811911 23811911 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 23811911 23811911 C T SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.982 p.R328C 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 112 0 0 77 46 37.3984 MAGEL2 0 genome.wustl.edu 37 15 23890382 23890382 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 23890382 23890382 C A SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.699 p.W233C 0.960 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 103 0 0 72 49 40.4959 SNORD115-1 0 genome.wustl.edu 37 15 25415941 25415941 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 25415941 25415941 C T SNP SNORD115-1 ENST00000364961 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD115-1 HGNC ENSG00000201831 384 1 0.25974 315 145 31.5217 UBE3A 0 genome.wustl.edu 37 15 25601091 25601091 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 25601091 25601091 T C SNP UBE3A ENST00000397954 human ensembl 74_37 -1 known missense c.2081 p.Y694C 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT - no_errors UBE3A HGNC ENSG00000114062 119 1 0.833333 104 57 35.4037 HERC2 0 genome.wustl.edu 37 15 28465618 28465618 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 28465618 28465618 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.5825 p.S1942L 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 237 0 0 189 90 32.2581 HERC2 0 genome.wustl.edu 37 15 28482215 28482215 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 28482215 28482215 A G SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.3897 p.S1299 0.989 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 113 0 0 139 9 6.08108 HERC2 0 genome.wustl.edu 37 15 28482246 28482246 + Missense_Mutation SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 28482246 28482246 A C SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.3866 p.I1289S 0.999 superfamily_Cyt_B5-like_heme/steroid-bd pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 113 0 0 122 9 6.87023 HERC2 0 genome.wustl.edu 37 15 28482247 28482247 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 28482247 28482247 T C SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.3865 p.I1289V 1.000 superfamily_Cyt_B5-like_heme/steroid-bd pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 114 0 0 125 8 6.01504 LOC100289656 0 genome.wustl.edu 37 15 29033802 29033802 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 29033802 29033802 C T SNP LOC100289656 ENST00000430589 human ensembl 74_37 +1 putative rna NULL NULL 0.997 - - - no_errors RP11-578F21.10 Clone_based_vega_gene ENSG00000232431 49 0 0 27 14 34.1463 SLC12A6 0 genome.wustl.edu 37 15 34531205 34531205 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 34531205 34531205 G A SNP SLC12A6 ENST00000558589 human ensembl 74_37 -1 known missense c.2566 p.R856C 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 327 0 0 244 121 33.1507 DUOXA1 0 genome.wustl.edu 37 15 45410170 45410170 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 45410170 45410170 C T SNP DUOXA1 ENST00000267803 human ensembl 74_37 -1 known nonsense c.1089 p.W363* 0.000 NULL pfam_Dual_oxidase_maturation_fac - no_errors DUOXA1 HGNC ENSG00000140254 103 1 0.961538 82 50 37.8788 MYO5A 0 genome.wustl.edu 37 15 52689455 52689455 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 52689455 52689455 T C SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.1262 p.Q421R 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,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 MYO5A HGNC ENSG00000197535 112 0 0 88 42 32.3077 ENSG00000259285 0 genome.wustl.edu 37 15 58357726 58357726 + RNA SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 58357726 58357726 G A SNP ENSG00000259285 ENST00000559684 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors CTD-2330J20.2 Clone_based_vega_gene ENSG00000259285 63 0 0 54 34 38.6364 ADAM10 0 genome.wustl.edu 37 15 58925422 58925422 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 58925422 58925422 G A SNP ADAM10 ENST00000260408 human ensembl 74_37 -1 known silent c.1149 p.H383 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM10 HGNC ENSG00000137845 69 0 0 55 33 37.5 C2CD4B 0 genome.wustl.edu 37 15 62456140 62456140 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 62456140 62456140 G A SNP C2CD4B ENST00000380392 human ensembl 74_37 -1 known silent c.1044 p.G348 0.765 superfamily_C2_dom superfamily_C2_dom - no_errors C2CD4B HGNC ENSG00000205502 12 0 0 7 3 30 HERC1 0 genome.wustl.edu 37 15 63901307 63901307 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 63901307 63901307 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known silent c.14559 p.N4853 0.997 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 31 0 0 34 27 44.2623 DIS3L 0 genome.wustl.edu 37 15 66615118 66615118 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 66615118 66615118 G A SNP DIS3L ENST00000319212 human ensembl 74_37 +1 known missense c.1420 p.V474I 0.996 NULL NULL - no_errors DIS3L HGNC ENSG00000166938 99 0 0 65 48 42.4779 CORO2B 0 genome.wustl.edu 37 15 69011084 69011084 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 69011084 69011084 C T SNP CORO2B ENST00000566799 human ensembl 74_37 +1 known missense c.1015 p.R339C 1.000 pfam_DUF1900 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2B HGNC ENSG00000103647 39 0 0 42 19 31.1475 CELF6 0 genome.wustl.edu 37 15 72580753 72580753 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 72580753 72580753 T C SNP CELF6 ENST00000569547 human ensembl 74_37 -1 known missense c.1214 p.Q405R 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF6 Uniprot_gn ENSG00000273025 193 0 0 140 92 39.6552 HIGD2B 0 genome.wustl.edu 37 15 72968433 72968433 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 72968433 72968433 G A SNP HIGD2B ENST00000311755 human ensembl 74_37 -1 known silent c.283 p.L95 0.991 pfam_Hypoxia_induced_domain pfam_Hypoxia_induced_domain - no_errors HIGD2B HGNC ENSG00000175202 16 0 0 12 7 36.8421 CCDC33 0 genome.wustl.edu 37 15 74573063 74573063 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 74573063 74573063 C T SNP CCDC33 ENST00000321288 human ensembl 74_37 +1 known missense c.1553 p.P518L 0.888 NULL pfam_C2_dom,superfamily_C2_dom - no_errors CCDC33 HGNC ENSG00000140481 159 0 0 135 65 32.5 MPI 0 genome.wustl.edu 37 15 75182444 75182444 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 75182444 75182444 T C SNP MPI ENST00000561470 human ensembl 74_37 +1 known silent c.30 p.A10 0.000 NULL NULL - no_errors MPI HGNC ENSG00000178802 44 0 0 36 20 35.7143 TMED3 0 genome.wustl.edu 37 15 79606185 79606185 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 79606185 79606185 C T SNP TMED3 ENST00000299705 human ensembl 74_37 +1 known silent c.255 p.Y85 0.986 pfam_GOLD,superfamily_GOLD,pfscan_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED3 HGNC ENSG00000166557 109 1 0.909091 110 68 38.2022 MEX3B 0 genome.wustl.edu 37 15 82336563 82336563 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 82336563 82336563 G A SNP MEX3B ENST00000329713 human ensembl 74_37 -1 known silent c.648 p.R216 0.965 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 211 0 0 187 92 32.9749 AP3B2 0 genome.wustl.edu 37 15 83349406 83349406 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 83349406 83349406 G A SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known silent c.873 p.P291 0.178 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 27 0 0 17 16 48.4848 ADAMTSL3 0 genome.wustl.edu 37 15 84488696 84488696 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 84488696 84488696 A G SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.497 p.H166R 0.436 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 63 0 0 59 27 31.3953 AEN 0 genome.wustl.edu 37 15 89169602 89169602 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 89169602 89169602 C T SNP AEN ENST00000379231 human ensembl 74_37 +1 known silent c.162 p.S54 0.017 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors AEN HGNC ENSG00000181026 38 0 0 16 13 44.8276 ABHD2 0 genome.wustl.edu 37 15 89719194 89719194 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 89719194 89719194 C T SNP ABHD2 ENST00000352732 human ensembl 74_37 +1 known silent c.690 p.C230 0.770 pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD2 HGNC ENSG00000140526 156 0 0 101 54 34.8387 TTLL13 0 genome.wustl.edu 37 15 90794020 90794020 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 90794020 90794020 C A SNP TTLL13 ENST00000438251 human ensembl 74_37 +1 known missense c.158 p.P53H 0.006 NULL pfam_TTL/TTLL_fam - no_errors TTLL13 HGNC ENSG00000213471 171 0 0 146 81 35.6828 ZNF774 0 genome.wustl.edu 37 15 90903582 90903582 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 90903582 90903582 C T SNP ZNF774 ENST00000354377 human ensembl 74_37 +1 known silent c.519 p.H173 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF774 HGNC ENSG00000196391 123 0 0 98 60 37.9747 TXNDC11 0 genome.wustl.edu 37 16 11792005 11792005 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 11792005 11792005 G A SNP TXNDC11 ENST00000356957 human ensembl 74_37 -1 known silent c.1164 p.A388 0.802 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 188 0 0 131 66 33.5025 UBE2I 0 genome.wustl.edu 37 16 1374749 1374749 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 1374749 1374749 C T SNP UBE2I ENST00000325437 human ensembl 74_37 +1 known silent c.432 p.Y144 0.988 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 UBE2I HGNC ENSG00000103275 52 0 0 44 28 38.8889 ENSG00000263065 0 genome.wustl.edu 37 16 15835296 15835296 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 15835296 15835296 C T SNP ENSG00000263065 ENST00000577048 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AF001548.6 Clone_based_vega_gene ENSG00000263065 163 0 0 121 69 36.3158 MAPK8IP3 0 genome.wustl.edu 37 16 1797263 1797263 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 1797263 1797263 C T SNP MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known silent c.978 p.R326 0.969 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 40 0 0 51 16 23.8806 HS3ST6 0 genome.wustl.edu 37 16 1961936 1961936 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 1961936 1961936 G A SNP HS3ST6 ENST00000293937 human ensembl 74_37 -1 known silent c.684 p.Y228 0.997 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST6 HGNC ENSG00000162040 61 0 0 60 29 32.5843 TBL3 0 genome.wustl.edu 37 16 2026277 2026277 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 2026277 2026277 C T SNP TBL3 ENST00000568546 human ensembl 74_37 +1 known silent c.1254 p.S418 0.153 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 41 0 0 40 18 31.0345 ACSM2A 0 genome.wustl.edu 37 16 20491904 20491904 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 20491904 20491904 G A SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known missense c.1291 p.D431N 0.998 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 171 0 0 141 94 40 TSC2 0 genome.wustl.edu 37 16 2131669 2131669 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 2131669 2131669 G A SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known silent c.3684 p.L1228 1.000 NULL pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 166 0 0 120 70 36.8421 NPIPB4 0 genome.wustl.edu 37 16 21848597 21848597 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 21848597 21848597 C T SNP NPIPB4 ENST00000415645 human ensembl 74_37 -1 known missense c.1111 p.E371K 0.009 NULL NULL - no_errors NPIPB4 HGNC ENSG00000185864 19 0 0 10 17 62.963 UQCRC2 0 genome.wustl.edu 37 16 21974140 21974140 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 21974140 21974140 G A SNP UQCRC2 ENST00000268379 human ensembl 74_37 +1 known missense c.448 p.E150K 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors UQCRC2 HGNC ENSG00000140740 122 0 0 110 62 36.0465 EEF2K 0 genome.wustl.edu 37 16 22291579 22291579 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 22291579 22291579 T C SNP EEF2K ENST00000263026 human ensembl 74_37 +1 known silent c.1950 p.C650 1.000 pirsf_Elongation_factor_2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 33 0 0 66 4 5.71429 PLK1 0 genome.wustl.edu 37 16 23701317 23701317 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 23701317 23701317 A G SNP PLK1 ENST00000300093 human ensembl 74_37 +1 known missense c.1745 p.Y582C 0.996 pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom pfam_Prot_kinase_dom,pfam_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK1 HGNC ENSG00000166851 94 0 0 107 40 27.2109 ERN2 0 genome.wustl.edu 37 16 23702743 23702743 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 23702743 23702743 C T SNP ERN2 ENST00000256797 human ensembl 74_37 -1 known missense c.2524 p.V842I 0.998 pfam_KEN_dom,superfamily_Kinase-like_dom 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 29 0 0 23 10 30.303 TNRC6A 0 genome.wustl.edu 37 16 24803029 24803029 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 24803029 24803029 G T SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.3066 p.W1022C 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 77 0 0 66 38 36.5385 TNRC6A 0 genome.wustl.edu 37 16 24815588 24815588 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 24815588 24815588 G A SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.3785 p.R1262Q 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 104 0 0 72 46 38.9831 TNRC6A 0 genome.wustl.edu 37 16 24817552 24817552 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 24817552 24817552 C T SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.4277 p.A1426V 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 68 0 0 77 31 28.7037 KDM8 0 genome.wustl.edu 37 16 27232030 27232030 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 27232030 27232030 G T SNP KDM8 ENST00000441782 human ensembl 74_37 +1 known silent c.1344 p.S448 0.412 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM8 HGNC ENSG00000155666 174 0 0 152 82 35.0427 LUC7L 0 genome.wustl.edu 37 16 277242 277242 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 277242 277242 G A SNP LUC7L ENST00000293872 human ensembl 74_37 -1 known missense c.155 p.T52M 1.000 pfam_Luc7-rel pfam_Luc7-rel - no_errors LUC7L HGNC ENSG00000007392 25 0 0 11 5 31.25 SULT1A2 0 genome.wustl.edu 37 16 28603773 28603773 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 28603773 28603773 C T SNP SULT1A2 ENST00000533150 human ensembl 74_37 -1 novel missense c.487 p.A163T 0.887 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1A2 HGNC ENSG00000197165 77 0 0 88 15 14.5631 PRSS22 0 genome.wustl.edu 37 16 2906205 2906205 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 2906205 2906205 G A SNP PRSS22 ENST00000161006 human ensembl 74_37 -1 known silent c.159 p.G53 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS22 HGNC ENSG00000005001 66 0 0 63 36 36.3636 FLYWCH1 0 genome.wustl.edu 37 16 2987260 2987260 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 2987260 2987260 G T SNP FLYWCH1 ENST00000399667 human ensembl 74_37 +1 known missense c.1799 p.R600L 0.965 pfam_Znf_FLYWCH pfam_Znf_FLYWCH - no_errors FLYWCH1 HGNC ENSG00000059122 17 0 0 12 14 53.8462 SRCAP 0 genome.wustl.edu 37 16 30750430 30750430 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 30750430 30750430 C T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known silent c.9069 p.P3023 0.987 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 90 0 0 91 51 35.9155 SLC5A2 0 genome.wustl.edu 37 16 31499991 31499991 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 31499991 31499991 C T SNP SLC5A2 ENST00000330498 human ensembl 74_37 +1 known missense c.1178 p.S393L 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A2 HGNC ENSG00000140675 29 0 0 33 19 36.5385 ZNF213 0 genome.wustl.edu 37 16 3191136 3191136 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 3191136 3191136 G A SNP ZNF213 ENST00000396878 human ensembl 74_37 +1 known missense c.1168 p.D390N 0.453 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF213 HGNC ENSG00000085644 60 0 0 71 39 35.4545 ENSG00000259966 0 genome.wustl.edu 37 16 32621736 32621736 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 32621736 32621736 C T SNP ENSG00000259966 ENST00000566952 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 70 0 0 92 30 24.5902 MEFV 0 genome.wustl.edu 37 16 3293377 3293377 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 3293377 3293377 C T SNP MEFV ENST00000219596 human ensembl 74_37 -1 known missense c.2110 p.V704I 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 150 0 0 118 63 34.8066 MEFV 0 genome.wustl.edu 37 16 3304678 3304678 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 3304678 3304678 G A SNP MEFV ENST00000219596 human ensembl 74_37 -1 known silent c.390 p.N130 0.000 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 60 0 0 46 25 35.2113 ZSCAN32 0 genome.wustl.edu 37 16 3434756 3434756 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 3434756 3434756 G T SNP ZSCAN32 ENST00000396846 human ensembl 74_37 -1 known missense c.937 p.L313I 0.008 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,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 ZSCAN32 HGNC ENSG00000140987 364 0 0 300 153 33.7748 CORO7-PAM16 0 genome.wustl.edu 37 16 4409528 4409528 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 4409528 4409528 G T SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known missense c.2203 p.L735M 1.000 pfam_DUF1900 pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 52 0 0 44 27 38.0282 ANKRD26P1 0 genome.wustl.edu 37 16 46597864 46597864 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 46597864 46597864 C T SNP ANKRD26P1 ENST00000566201 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD26P1 HGNC ENSG00000261239 18 0 0 14 7 33.3333 VPS35 0 genome.wustl.edu 37 16 46696158 46696158 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 46696158 46696158 C A SNP VPS35 ENST00000299138 human ensembl 74_37 -1 known missense c.2064 p.E688D 0.997 pfam_VPS35,superfamily_ARM-type_fold pfam_VPS35,superfamily_ARM-type_fold - no_errors VPS35 HGNC ENSG00000069329 102 0 0 85 44 34.1085 ALG1 0 genome.wustl.edu 37 16 5123189 5123189 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 5123189 5123189 G A SNP ALG1 ENST00000262374 human ensembl 74_37 +1 known missense c.322 p.V108I 0.914 NULL pfam_Glyco_trans_1 - no_errors ALG1 HGNC ENSG00000033011 91 0 0 94 36 27.6923 IRX6 0 genome.wustl.edu 37 16 55363169 55363169 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 55363169 55363169 T C SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known missense c.1279 p.C427R 0.993 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 115 0 0 75 31 29.2453 NLRC5 0 genome.wustl.edu 37 16 57067548 57067548 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 57067548 57067548 G T SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.2510 p.R837M 0.002 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 102 0 0 110 32 22.5352 NDRG4 0 genome.wustl.edu 37 16 58537631 58537631 + RNA SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 58537631 58537631 G A SNP NDRG4 ENST00000566065 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NDRG4 HGNC ENSG00000103034 21 0 0 14 12 46.1538 CDH11 0 genome.wustl.edu 37 16 64981761 64981761 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 64981761 64981761 G A SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known silent c.2136 p.P712 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 142 1 0.699301 146 56 27.7228 CMTM3 0 genome.wustl.edu 37 16 66643409 66643409 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 66643409 66643409 G A SNP CMTM3 ENST00000361909 human ensembl 74_37 +1 known silent c.375 p.S125 0.000 pfam_Marvel pfam_Marvel - no_errors CMTM3 HGNC ENSG00000140931 11 0 0 9 4 30.7692 CA7 0 genome.wustl.edu 37 16 66880978 66880978 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 66880978 66880978 G A SNP CA7 ENST00000338437 human ensembl 74_37 +1 known missense c.86 p.R29H 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 CA7 HGNC ENSG00000168748 55 0 0 49 23 31.9444 CES4A 0 genome.wustl.edu 37 16 67040713 67040713 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 67040713 67040713 C T SNP CES4A ENST00000326686 human ensembl 74_37 +1 known missense c.1510 p.R504C 0.584 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES4A HGNC ENSG00000172824 98 0 0 76 45 37.1901 EXOC3L1 0 genome.wustl.edu 37 16 67221443 67221443 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 67221443 67221443 C T SNP EXOC3L1 ENST00000314586 human ensembl 74_37 -1 known missense c.725 p.R242Q 0.991 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L1 HGNC ENSG00000179044 74 0 0 57 39 40.625 PLEKHG4 0 genome.wustl.edu 37 16 67314806 67314806 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 67314806 67314806 G A SNP PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known missense c.617 p.R206Q 1.000 superfamily_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 62 0 0 66 30 31.25 HSD11B2 0 genome.wustl.edu 37 16 67470195 67470195 + Missense_Mutation SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 67470195 67470195 A C SNP HSD11B2 ENST00000326152 human ensembl 74_37 +1 known missense c.708 p.K236N 1.000 pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH - no_errors HSD11B2 HGNC ENSG00000176387 276 1 0.361011 194 104 34.8993 ATP6V0D1 0 genome.wustl.edu 37 16 67477028 67477028 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 67477028 67477028 C T SNP ATP6V0D1 ENST00000290949 human ensembl 74_37 -1 known missense c.535 p.E179K 1.000 pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D1 HGNC ENSG00000159720 179 0 0 150 76 33.6283 RAB40C 0 genome.wustl.edu 37 16 676026 676026 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 676026 676026 C A SNP RAB40C ENST00000248139 human ensembl 74_37 +1 known missense c.470 p.P157H 1.000 pfam_Small_GTPase,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_SOCS_C,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,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40C HGNC ENSG00000197562 105 0 0 87 42 32.5581 RANBP10 0 genome.wustl.edu 37 16 67763281 67763281 + Silent SNP G G C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 67763281 67763281 G C SNP RANBP10 ENST00000317506 human ensembl 74_37 -1 known silent c.1254 p.S418 0.618 NULL pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC ENSG00000141084 54 0 0 57 22 27.8481 PSKH1 0 genome.wustl.edu 37 16 67943103 67943103 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 67943103 67943103 C T SNP PSKH1 ENST00000291041 human ensembl 74_37 +1 known missense c.451 p.R151C 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 PSKH1 HGNC ENSG00000159792 52 0 0 33 20 37.7358 SLC7A6 0 genome.wustl.edu 37 16 68308738 68308738 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 68308738 68308738 G A SNP SLC7A6 ENST00000219343 human ensembl 74_37 +1 known missense c.109 p.E37K 0.966 NULL pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A6 HGNC ENSG00000103064 119 0 0 91 45 33.0882 SMPD3 0 genome.wustl.edu 37 16 68405541 68405541 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 68405541 68405541 C T SNP SMPD3 ENST00000219334 human ensembl 74_37 -1 known missense c.544 p.A182T 0.939 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD3 HGNC ENSG00000103056 46 0 0 47 22 31.8841 HAS3 0 genome.wustl.edu 37 16 69143627 69143627 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 69143627 69143627 G A SNP HAS3 ENST00000306560 human ensembl 74_37 +1 known missense c.329 p.R110H 1.000 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS3 HGNC ENSG00000103044 69 0 0 47 31 39.7436 TERF2 0 genome.wustl.edu 37 16 69404408 69404408 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 69404408 69404408 T C SNP TERF2 ENST00000254942 human ensembl 74_37 -1 known missense c.818 p.D273G 0.604 pfam_Telomere_rpt-bd_fac_dimer_dom,superfamily_Telomere_rpt-bd_fac_dimer_dom,pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF2 HGNC ENSG00000132604 87 0 0 77 50 39.3701 COG4 0 genome.wustl.edu 37 16 70517769 70517769 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 70517769 70517769 C T SNP COG4 ENST00000323786 human ensembl 74_37 -1 known missense c.1814 p.R605Q 1.000 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 130 0 0 100 70 41.1765 SF3B3 0 genome.wustl.edu 37 16 70590798 70590798 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 70590798 70590798 C A SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known missense c.1876 p.Q626K 1.000 superfamily_WD40_repeat_dom pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 92 0 0 119 7 5.55556 DHX38 0 genome.wustl.edu 37 16 72143405 72143405 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 72143405 72143405 G A SNP DHX38 ENST00000268482 human ensembl 74_37 +1 known missense c.3473 p.R1158Q 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 36 0 0 27 23 46 ADAMTS18 0 genome.wustl.edu 37 16 77356327 77356327 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 77356327 77356327 T C SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.2069 p.N690S 1.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 151 1 0.657895 119 69 36.7021 SLC38A8 0 genome.wustl.edu 37 16 84067036 84067036 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 84067036 84067036 G A SNP SLC38A8 ENST00000299709 human ensembl 74_37 -1 known nonsense c.427 p.Q143* 0.467 pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A8 HGNC ENSG00000166558 106 0 0 110 48 30.3797 MBTPS1 0 genome.wustl.edu 37 16 84126839 84126839 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 84126839 84126839 G A SNP MBTPS1 ENST00000343411 human ensembl 74_37 -1 known missense c.800 p.A267V 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 106 0 0 87 24 21.6216 ANKRD11 0 genome.wustl.edu 37 16 89383423 89383423 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 89383423 89383423 G A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.5 p.P2L 1.000 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 25 0 0 12 8 40 FANCA 0 genome.wustl.edu 37 16 89857811 89857811 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 89857811 89857811 C A SNP FANCA ENST00000389301 human ensembl 74_37 -1 known missense c.1359 p.K453N 1.000 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 21 0 0 20 16 44.4444 TUBB3 0 genome.wustl.edu 37 16 89999011 89999011 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 89999011 89999011 C T SNP TUBB3 ENST00000315491 human ensembl 74_37 +1 known silent c.90 p.I30 0.995 pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Alpha_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_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB3 Uniprot_gn ENSG00000258947 75 0 0 80 21 20.7921 TUBB3 0 genome.wustl.edu 37 16 90001305 90001305 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 90001305 90001305 C T SNP TUBB3 ENST00000315491 human ensembl 74_37 +1 known missense c.446 p.T149M 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_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_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB3 Uniprot_gn ENSG00000258947 97 0 0 80 48 37.5 MYH1 0 genome.wustl.edu 37 17 10417429 10417429 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 10417429 10417429 G A SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known silent c.546 p.G182 0.556 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 97 0 0 92 51 35.6643 MYH3 0 genome.wustl.edu 37 17 10532979 10532979 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 10532979 10532979 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.5731 p.A1911T 1.000 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 MYH3 HGNC ENSG00000109063 97 0 0 97 46 32.1678 MYH3 0 genome.wustl.edu 37 17 10533718 10533718 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 10533718 10533718 G A SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.5344 p.R1782W 1.000 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 MYH3 HGNC ENSG00000109063 170 0 0 157 79 33.4746 MYH3 0 genome.wustl.edu 37 17 10535909 10535909 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 10535909 10535909 G A SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.4840 p.R1614W 0.999 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 MYH3 HGNC ENSG00000109063 631 0 0 472 238 33.5211 MYH3 0 genome.wustl.edu 37 17 10542774 10542774 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 10542774 10542774 C A SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.2943 p.E981D 0.998 NULL 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 MYH3 HGNC ENSG00000109063 93 0 0 60 38 38.7755 MYOCD 0 genome.wustl.edu 37 17 12655775 12655775 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 12655775 12655775 G A SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known silent c.1170 p.V390 0.999 pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 79 0 0 78 43 35.5372 ARHGAP44 0 genome.wustl.edu 37 17 12888089 12888089 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 12888089 12888089 G A SNP ARHGAP44 ENST00000544416 human ensembl 74_37 +1 known missense c.1765 p.A589T 1.000 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP44 HGNC ENSG00000006740 65 0 0 47 22 31.8841 INPP5K 0 genome.wustl.edu 37 17 1401279 1401279 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 1401279 1401279 G A SNP INPP5K ENST00000421807 human ensembl 74_37 -1 known missense c.914 p.T305M 0.015 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5K HGNC ENSG00000132376 231 0 0 187 98 34.386 PMP22 0 genome.wustl.edu 37 17 15134228 15134228 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 15134228 15134228 G T SNP PMP22 ENST00000494511 human ensembl 74_37 -1 novel missense c.310 p.P104T 0.111 NULL NULL - no_errors PMP22 HGNC ENSG00000109099 132 0 0 131 57 30.3191 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 150 0 0 205 13 5.9633 ZNF624 0 genome.wustl.edu 37 17 16526349 16526349 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 16526349 16526349 G A SNP ZNF624 ENST00000311331 human ensembl 74_37 -1 known silent c.1851 p.C617 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 ZNF624 HGNC ENSG00000197566 398 0 0 335 185 35.5769 ENSG00000226145 0 genome.wustl.edu 37 17 16725564 16725564 + RNA SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 16725564 16725564 A G SNP ENSG00000226145 ENST00000417510 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AC022596.6 Clone_based_vega_gene ENSG00000226145 28 0 0 27 9 25 KRT16P2 0 genome.wustl.edu 37 17 16735049 16735049 + RNA SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 16735049 16735049 T C SNP KRT16P2 ENST00000579062 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors KRT16P2 HGNC ENSG00000227300 13 0 0 18 6 25 TBC1D27 0 genome.wustl.edu 37 17 16831074 16831074 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 16831074 16831074 C T SNP TBC1D27 ENST00000261651 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors TBC1D27 HGNC ENSG00000128438 61 0 0 48 28 36.8421 PEMT 0 genome.wustl.edu 37 17 17480330 17480330 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 17480330 17480330 G A SNP PEMT ENST00000255389 human ensembl 74_37 -1 known silent c.108 p.C36 0.703 pirsf_PEMT/MFAP pfam_Phopholipid_MeTrfase,pirsf_PEMT/MFAP - no_errors PEMT HGNC ENSG00000133027 80 0 0 60 44 42.3077 RAI1 0 genome.wustl.edu 37 17 17701059 17701059 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 17701059 17701059 G A SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known silent c.4797 p.V1599 1.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 218 0 0 147 103 41.2 SREBF1 0 genome.wustl.edu 37 17 17719990 17719990 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 17719990 17719990 G A SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known missense c.1918 p.R640W 0.865 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 10 0 0 3 4 57.1429 MYO15A 0 genome.wustl.edu 37 17 18053803 18053803 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 18053803 18053803 G T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.7273 p.G2425C 0.264 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 116 0 0 81 32 28.3186 SGSM2 0 genome.wustl.edu 37 17 2282378 2282378 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 2282378 2282378 C T SNP SGSM2 ENST00000268989 human ensembl 74_37 +1 known missense c.2948 p.A983V 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 47 0 0 49 26 34.6667 METTL16 0 genome.wustl.edu 37 17 2323528 2323528 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 2323528 2323528 C A SNP METTL16 ENST00000263092 human ensembl 74_37 -1 known missense c.1425 p.E475D 0.136 pirsf_S-AdoMet-dep_MeTrfase_Mett10D pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D - no_errors METTL16 HGNC ENSG00000127804 243 0 0 338 23 6.37119 KSR1 0 genome.wustl.edu 37 17 25935009 25935009 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 25935009 25935009 G A SNP KSR1 ENST00000319524 human ensembl 74_37 +1 known silent c.2130 p.T710 0.000 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 13 0 0 11 9 45 SSH2 0 genome.wustl.edu 37 17 28030050 28030050 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 28030050 28030050 A G SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known silent c.138 p.G46 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 183 0 0 143 72 33.4884 OR1D5 0 genome.wustl.edu 37 17 2966340 2966340 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 2966340 2966340 C T SNP OR1D5 ENST00000575751 human ensembl 74_37 -1 known missense c.562 p.A188T 0.807 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1D5 HGNC ENSG00000262628 45 0 0 50 4 7.40741 RAB11FIP4 0 genome.wustl.edu 37 17 29761110 29761110 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 29761110 29761110 C T SNP RAB11FIP4 ENST00000325874 human ensembl 74_37 +1 known silent c.306 p.C102 0.001 NULL pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom - no_errors RAB11FIP4 HGNC ENSG00000131242 15 0 0 21 2 8.69565 PSMD11 0 genome.wustl.edu 37 17 30771615 30771615 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 30771615 30771615 A T SNP PSMD11 ENST00000261712 human ensembl 74_37 +1 known missense c.74 p.D25V 1.000 NULL pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors PSMD11 HGNC ENSG00000108671 34 0 0 23 17 42.5 TMEM132E 0 genome.wustl.edu 37 17 32953298 32953298 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 32953298 32953298 C T SNP TMEM132E ENST00000321639 human ensembl 74_37 +1 known nonsense c.220 p.Q74* 1.000 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 9 0 0 11 10 47.619 LIG3 0 genome.wustl.edu 37 17 33319045 33319045 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 33319045 33319045 C T SNP LIG3 ENST00000378526 human ensembl 74_37 +1 known missense c.1277 p.A426V 0.895 pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,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 96 0 0 71 42 37.1681 TRPV3 0 genome.wustl.edu 37 17 3417934 3417934 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 3417934 3417934 G A SNP TRPV3 ENST00000301365 human ensembl 74_37 -1 known missense c.2231 p.T744M 0.989 prints_TRPV1-4_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel - no_errors TRPV3 HGNC ENSG00000167723 85 0 0 77 50 39.3701 GGNBP2 0 genome.wustl.edu 37 17 34941792 34941792 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 34941792 34941792 T C SNP GGNBP2 ENST00000304718 human ensembl 74_37 +1 known silent c.1278 p.T426 0.998 NULL NULL - no_errors GGNBP2 HGNC ENSG00000005955 172 0 0 125 83 39.9038 ACACA 0 genome.wustl.edu 37 17 35518796 35518796 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 35518796 35518796 G A SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.5248 p.R1750C 0.853 pfam_Carboxyl_trans,pfscan_COA_CT_N pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 161 0 0 137 69 33.4951 CTNS 0 genome.wustl.edu 37 17 3560021 3560021 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 3560021 3560021 G A SNP CTNS ENST00000381870 human ensembl 74_37 +1 known missense c.613 p.D205N 1.000 tigrfam_LC_transporter smart_CTNS,tigrfam_LC_transporter - no_errors CTNS HGNC ENSG00000040531 133 0 0 102 64 38.5542 CDK12 0 genome.wustl.edu 37 17 37667883 37667883 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 37667883 37667883 G T SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.2768 p.G923V 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 CDK12 HGNC ENSG00000167258 89 0 0 80 34 29.8246 WIPF2 0 genome.wustl.edu 37 17 38421184 38421184 + Silent SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 38421184 38421184 T G SNP WIPF2 ENST00000323571 human ensembl 74_37 +1 known silent c.756 p.P252 0.031 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF2 HGNC ENSG00000171475 297 1 0.33557 244 131 34.9333 SMARCE1 0 genome.wustl.edu 37 17 38788517 38788517 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 38788517 38788517 A T SNP SMARCE1 ENST00000348513 human ensembl 74_37 -1 known missense c.644 p.V215D 0.999 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SMARCE1 HGNC ENSG00000073584 158 0 0 135 40 22.8571 KRTAP1-1 0 genome.wustl.edu 37 17 39197614 39197614 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 39197614 39197614 G A SNP KRTAP1-1 ENST00000306271 human ensembl 74_37 -1 known silent c.36 p.P12 1.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-1 HGNC ENSG00000188581 64 0 0 114 6 5 KRTAP4-6 0 genome.wustl.edu 37 17 39296353 39296353 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 39296353 39296353 G A SNP KRTAP4-6 ENST00000345847 human ensembl 74_37 -1 known silent c.387 p.C129 1.000 NULL pfam_Keratin-assoc - no_errors KRTAP4-6 HGNC ENSG00000198090 49 0 0 57 21 26.9231 KRTAP9-8 0 genome.wustl.edu 37 17 39394687 39394687 + Silent SNP C C G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 39394687 39394687 C G SNP KRTAP9-8 ENST00000254072 human ensembl 74_37 +1 known silent c.384 p.P128 0.985 NULL NULL - no_errors KRTAP9-8 HGNC ENSG00000187272 77 0 0 66 20 23.2558 KRT33A 0 genome.wustl.edu 37 17 39502761 39502761 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 39502761 39502761 G A SNP KRT33A ENST00000007735 human ensembl 74_37 -1 known missense c.1036 p.R346W 0.845 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT33A HGNC ENSG00000006059 165 0 0 141 83 37.0536 STAT3 0 genome.wustl.edu 37 17 40467787 40467787 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 40467787 40467787 C T SNP STAT3 ENST00000264657 human ensembl 74_37 -1 known silent c.2289 p.S763 0.949 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC ENSG00000168610 115 0 0 84 36 30 PTRF 0 genome.wustl.edu 37 17 40575031 40575031 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 40575031 40575031 C T SNP PTRF ENST00000357037 human ensembl 74_37 -1 known missense c.85 p.A29T 0.990 NULL NULL - no_errors PTRF HGNC ENSG00000177469 18 0 0 23 7 23.3333 PLEKHH3 0 genome.wustl.edu 37 17 40822025 40822025 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 40822025 40822025 G A SNP PLEKHH3 ENST00000591022 human ensembl 74_37 -1 known nonsense c.1924 p.R642* 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC ENSG00000068137 13 0 0 15 12 44.4444 AOC4P 0 genome.wustl.edu 37 17 41026144 41026144 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 41026144 41026144 C T SNP AOC4P ENST00000570207 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AOC4P HGNC ENSG00000260105 277 0 0 225 107 32.2289 BRCA1 0 genome.wustl.edu 37 17 41234588 41234588 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 41234588 41234588 C A SNP BRCA1 ENST00000471181 human ensembl 74_37 -1 known missense c.4190 p.R1397M 0.998 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 96 0 0 94 38 28.7879 BRCA1 0 genome.wustl.edu 37 17 41244577 41244577 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 41244577 41244577 T G SNP BRCA1 ENST00000471181 human ensembl 74_37 -1 known missense c.2971 p.K991Q 0.133 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 214 0 0 173 103 37.3188 SPATA32 0 genome.wustl.edu 37 17 43334552 43334552 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 43334552 43334552 G A SNP SPATA32 ENST00000331780 human ensembl 74_37 -1 known silent c.36 p.C12 0.028 NULL NULL - no_errors SPATA32 HGNC ENSG00000184361 32 0 0 20 8 28.5714 PLEKHM1 0 genome.wustl.edu 37 17 43545824 43545824 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 43545824 43545824 C A SNP PLEKHM1 ENST00000430334 human ensembl 74_37 -1 known missense c.1059 p.E353D 0.000 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC ENSG00000225190 63 0 0 54 34 38.6364 SPPL2C 0 genome.wustl.edu 37 17 43923266 43923266 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 43923266 43923266 G A SNP SPPL2C ENST00000329196 human ensembl 74_37 +1 known missense c.994 p.A332T 0.000 pfam_Peptidase_A22B_SPP,smart_Preselin/SPP pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2C HGNC ENSG00000185294 105 1 0.943396 94 41 30.3704 WNT9B 0 genome.wustl.edu 37 17 44952494 44952494 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 44952494 44952494 C T SNP WNT9B ENST00000290015 human ensembl 74_37 +1 known missense c.362 p.A121V 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT9B HGNC ENSG00000158955 343 0 0 272 159 36.891 SP6 0 genome.wustl.edu 37 17 45924731 45924731 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 45924731 45924731 G A SNP SP6 ENST00000342234 human ensembl 74_37 -1 known silent c.1065 p.G355 0.017 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP6 HGNC ENSG00000189120 22 0 0 17 7 29.1667 ITGA3 0 genome.wustl.edu 37 17 48148781 48148781 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 48148781 48148781 G T SNP ITGA3 ENST00000320031 human ensembl 74_37 +1 known missense c.858 p.Q286H 0.942 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 82 0 0 55 33 37.5 ZNF594 0 genome.wustl.edu 37 17 5086206 5086206 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 5086206 5086206 C T SNP ZNF594 ENST00000399604 human ensembl 74_37 -1 known missense c.1346 p.R449K 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ENSG00000180626 237 0 0 187 108 36.6102 NLRP1 0 genome.wustl.edu 37 17 5456824 5456824 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 5456824 5456824 G T SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known missense c.2410 p.L804I 0.013 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 71 0 0 66 33 33.3333 BZRAP1 0 genome.wustl.edu 37 17 56382987 56382987 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 56382987 56382987 G A SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.5275 p.P1759S 0.000 superfamily_SH3_domain 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 21 0 0 21 23 52.2727 CLTC 0 genome.wustl.edu 37 17 57752157 57752157 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 57752157 57752157 T C SNP CLTC ENST00000269122 human ensembl 74_37 +1 known silent c.2514 p.G838 0.988 superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 130 0 0 119 59 33.1461 PLEKHM1P 0 genome.wustl.edu 37 17 62818039 62818039 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 62818039 62818039 C T SNP PLEKHM1P ENST00000397718 human ensembl 74_37 -1 known rna NULL NULL 0.988 - - - no_errors PLEKHM1P HGNC ENSG00000214176 53 0 0 61 25 29.0698 AIPL1 0 genome.wustl.edu 37 17 6337403 6337403 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 6337403 6337403 G A SNP AIPL1 ENST00000381129 human ensembl 74_37 -1 known missense c.112 p.R38C 1.000 pfam_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors AIPL1 HGNC ENSG00000129221 32 0 0 26 24 48 HELZ 0 genome.wustl.edu 37 17 65103454 65103454 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 65103454 65103454 T C SNP HELZ ENST00000358691 human ensembl 74_37 -1 known missense c.5072 p.N1691S 1.000 NULL pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 176 0 0 161 63 28.125 HELZ 0 genome.wustl.edu 37 17 65124763 65124763 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 65124763 65124763 T C SNP HELZ ENST00000579953 human ensembl 74_37 -1 known missense c.3394 p.K1132E 0.999 NULL pfam_UvrD-like_ATP-bd,pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 377 0 0 365 139 27.5794 BPTF 0 genome.wustl.edu 37 17 65905705 65905705 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 65905705 65905705 T C SNP BPTF ENST00000321892 human ensembl 74_37 +1 known silent c.3198 p.N1066 0.821 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 31 0 0 22 10 31.25 ABCA10 0 genome.wustl.edu 37 17 67186554 67186554 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 67186554 67186554 T C SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known silent c.2076 p.T692 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 79 0 0 72 40 35.7143 GLOD4 0 genome.wustl.edu 37 17 685454 685454 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 685454 685454 T C SNP GLOD4 ENST00000301328 human ensembl 74_37 -1 known silent c.42 p.G14 0.998 NULL NULL - no_errors GLOD4 HGNC ENSG00000167699 22 0 0 20 7 25.9259 SLC16A11 0 genome.wustl.edu 37 17 6945418 6945418 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 6945418 6945418 G A SNP SLC16A11 ENST00000308009 human ensembl 74_37 -1 known silent c.1083 p.F361 0.970 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A11 HGNC ENSG00000174326 20 0 0 27 16 37.2093 COG1 0 genome.wustl.edu 37 17 71197647 71197647 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 71197647 71197647 G A SNP COG1 ENST00000299886 human ensembl 74_37 +1 known missense c.1681 p.A561T 0.077 NULL NULL - no_errors COG1 HGNC ENSG00000166685 158 0 0 123 72 36.9231 CD300LD 0 genome.wustl.edu 37 17 72576253 72576253 + Splice_Site SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 72576253 72576253 C A SNP CD300LD ENST00000375352 human ensembl 74_37 -1 known splice_site c.474-1 e4-1 0.715 - - - no_errors CD300LD HGNC ENSG00000204345 22 0 0 24 13 35.1351 NXN 0 genome.wustl.edu 37 17 729260 729260 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 729260 729260 G A SNP NXN ENST00000336868 human ensembl 74_37 -1 known missense c.419 p.A140V 1.000 superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors NXN HGNC ENSG00000167693 53 0 0 53 20 27.3973 ENSG00000262880 0 genome.wustl.edu 37 17 7346143 7346143 + RNA SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 7346143 7346143 A G SNP ENSG00000262880 ENST00000575310 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-104H15.7 Clone_based_vega_gene ENSG00000262880 132 0 0 95 57 37.5 GALR2 0 genome.wustl.edu 37 17 74072970 74072970 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 74072970 74072970 G A SNP GALR2 ENST00000329003 human ensembl 74_37 +1 known missense c.622 p.A208T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_GAL2_rcpt - no_errors GALR2 HGNC ENSG00000182687 41 0 0 33 24 42.1053 SNHG16 0 genome.wustl.edu 37 17 74557778 74557778 + RNA SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 74557778 74557778 T C SNP SNHG16 ENST00000364968 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNHG16 HGNC ENSG00000163597 107 0 0 85 27 24.1071 SEC14L1 0 genome.wustl.edu 37 17 75196727 75196727 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 75196727 75196727 C T SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known silent c.981 p.Y327 0.996 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom 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 - no_errors SEC14L1 HGNC ENSG00000129657 165 0 0 147 69 31.9444 TNRC6C 0 genome.wustl.edu 37 17 76073380 76073380 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 76073380 76073380 G A SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known missense c.3166 p.G1056R 1.000 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 11 0 0 8 5 38.4615 DNAH17 0 genome.wustl.edu 37 17 76525771 76525771 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 76525771 76525771 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.3290 p.A1097V 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 64 0 0 53 29 35.3659 DNAH2 0 genome.wustl.edu 37 17 7681430 7681430 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 7681430 7681430 G A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known silent c.5283 p.T1761 0.953 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 98 0 0 75 58 43.609 DNAH2 0 genome.wustl.edu 37 17 7701025 7701025 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 7701025 7701025 A G SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.8108 p.Y2703C 0.999 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 172 0 0 136 77 36.1502 KCNAB3 0 genome.wustl.edu 37 17 7827318 7827318 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 7827318 7827318 G A SNP KCNAB3 ENST00000303790 human ensembl 74_37 -1 known nonsense c.895 p.R299* 0.216 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB3,prints_K_chnl_volt-dep_bsu_KCNAB1,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,prints_K_chnl_volt-dep_bsu_KCNAB1,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB3 HGNC ENSG00000170049 66 0 0 28 31 52.5424 KCNAB3 0 genome.wustl.edu 37 17 7832468 7832468 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 7832468 7832468 C T SNP KCNAB3 ENST00000570852 human ensembl 74_37 -1 known missense c.286 p.G96R 0.001 NULL NULL - no_errors KCNAB3 HGNC ENSG00000170049 36 0 0 20 14 41.1765 RNF213 0 genome.wustl.edu 37 17 78341838 78341838 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 78341838 78341838 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.12050 p.C4017Y 0.984 smart_Znf_RING,pfscan_Znf_RING superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 239 0 0 235 98 29.4294 AZI1 0 genome.wustl.edu 37 17 79171622 79171622 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 79171622 79171622 C T SNP AZI1 ENST00000269392 human ensembl 74_37 -1 known missense c.1546 p.E516K 0.001 NULL superfamily_t-SNARE - no_errors AZI1 HGNC ENSG00000141577 68 0 0 49 33 40.2439 PER1 0 genome.wustl.edu 37 17 8050660 8050660 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 8050660 8050660 C T SNP PER1 ENST00000317276 human ensembl 74_37 -1 known missense c.1537 p.G513S 0.783 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 49 0 0 49 4 7.54717 PER1 0 genome.wustl.edu 37 17 8051007 8051007 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 8051007 8051007 C T SNP PER1 ENST00000317276 human ensembl 74_37 -1 known missense c.1373 p.R458H 1.000 superfamily_PAS pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 74 0 0 47 40 45.977 RAB40B 0 genome.wustl.edu 37 17 80617530 80617530 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 80617530 80617530 C T SNP RAB40B ENST00000571995 human ensembl 74_37 -1 known missense c.268 p.V90M 0.977 pfam_Small_GTPase,pfam_MIRO-like,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,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,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,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40B HGNC ENSG00000141542 61 0 0 59 17 22.3684 TBCD 0 genome.wustl.edu 37 17 80861316 80861316 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 80861316 80861316 A G SNP TBCD ENST00000355528 human ensembl 74_37 +1 known missense c.1766 p.N589S 0.926 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 9 0 0 13 7 35 MYH10 0 genome.wustl.edu 37 17 8390804 8390804 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 8390804 8390804 C T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.4963 p.E1655K 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 373 0 0 303 189 38.4146 SPDYE4 0 genome.wustl.edu 37 17 8660792 8660792 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 8660792 8660792 C T SNP SPDYE4 ENST00000328794 human ensembl 74_37 -1 known missense c.128 p.S43N 0.000 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE4 HGNC ENSG00000183318 15 0 0 15 5 25 MFSD6L 0 genome.wustl.edu 37 17 8700779 8700779 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 8700779 8700779 A G SNP MFSD6L ENST00000329805 human ensembl 74_37 -1 known missense c.1660 p.S554P 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6L HGNC ENSG00000185156 104 0 0 131 30 18.6335 WDR16 0 genome.wustl.edu 37 17 9515752 9515752 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 9515752 9515752 A G SNP WDR16 ENST00000299764 human ensembl 74_37 +1 known missense c.1011 p.I337M 0.968 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 WDR16 HGNC ENSG00000166596 142 0 0 118 52 30.5882 DHRS7C 0 genome.wustl.edu 37 17 9684848 9684848 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 9684848 9684848 C T SNP DHRS7C ENST00000330255 human ensembl 74_37 -1 known missense c.218 p.R73K 0.996 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7C HGNC ENSG00000184544 58 0 0 51 19 27.1429 CIDEA 0 genome.wustl.edu 37 18 12277323 12277323 + RNA SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 12277323 12277323 A G SNP CIDEA ENST00000520620 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors CIDEA HGNC ENSG00000176194 28 0 0 29 15 34.0909 OSBPL1A 0 genome.wustl.edu 37 18 21912999 21912999 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 21912999 21912999 T C SNP OSBPL1A ENST00000319481 human ensembl 74_37 -1 known missense c.532 p.T178A 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 124 0 0 126 68 35.0515 ZNF521 0 genome.wustl.edu 37 18 22806757 22806757 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 22806757 22806757 C T SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known silent c.1125 p.P375 0.066 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 105 0 0 93 32 25.6 PSMA8 0 genome.wustl.edu 37 18 23758861 23758861 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 23758861 23758861 C T SNP PSMA8 ENST00000308268 human ensembl 74_37 +1 known missense c.563 p.A188V 0.999 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA8 HGNC ENSG00000154611 48 0 0 34 30 46.875 B4GALT6 0 genome.wustl.edu 37 18 29264301 29264301 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 29264301 29264301 T C SNP B4GALT6 ENST00000306851 human ensembl 74_37 -1 known missense c.89 p.Y30C 1.000 NULL pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT6 HGNC ENSG00000118276 94 0 0 56 34 37.7778 LRRC37A7P 0 genome.wustl.edu 37 18 29304355 29304355 + RNA SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 29304355 29304355 G A SNP LRRC37A7P ENST00000583900 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors LRRC37A7P HGNC ENSG00000265158 18 0 0 16 7 30.4348 WBP11P1 0 genome.wustl.edu 37 18 30092706 30092706 + RNA SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 30092706 30092706 A G SNP WBP11P1 ENST00000567636 human ensembl 74_37 +1 known rna NULL NULL 0.947 - - - no_errors WBP11P1 HGNC ENSG00000260389 72 0 0 60 41 40.5941 KLHL14 0 genome.wustl.edu 37 18 30350456 30350456 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 30350456 30350456 G A SNP KLHL14 ENST00000359358 human ensembl 74_37 -1 known silent c.99 p.C33 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 60 0 0 70 34 32.6923 MOCOS 0 genome.wustl.edu 37 18 33795823 33795823 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 33795823 33795823 C T SNP MOCOS ENST00000261326 human ensembl 74_37 +1 known silent c.1680 p.V560 0.000 NULL 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 68 0 0 76 44 36.6667 CELF4 0 genome.wustl.edu 37 18 34853109 34853109 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 34853109 34853109 C T SNP CELF4 ENST00000420428 human ensembl 74_37 -1 known silent c.819 p.A273 0.922 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 63 0 0 56 22 28.2051 CELF4 0 genome.wustl.edu 37 18 35145576 35145576 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 35145576 35145576 T C SNP CELF4 ENST00000420428 human ensembl 74_37 -1 known missense c.29 p.N10S 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 71 0 0 80 38 32.2034 CTIF 0 genome.wustl.edu 37 18 46385824 46385824 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 46385824 46385824 G A SNP CTIF ENST00000382998 human ensembl 74_37 +1 known missense c.1697 p.R566Q 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 163 0 0 127 67 34.5361 LIPG 0 genome.wustl.edu 37 18 47110076 47110076 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 47110076 47110076 A G SNP LIPG ENST00000261292 human ensembl 74_37 +1 known silent c.1308 p.Q436 0.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep - no_errors LIPG HGNC ENSG00000101670 48 0 0 40 13 24.5283 MBD1 0 genome.wustl.edu 37 18 47803030 47803030 + Splice_Site SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 47803030 47803030 A G SNP MBD1 ENST00000424334 human ensembl 74_37 -1 known splice_site c.553+2 e5+2 0.997 - - - no_errors MBD1 HGNC ENSG00000141644 47 0 0 48 28 36.8421 ENSG00000173213 0 genome.wustl.edu 37 18 49031 49031 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 49031 49031 G A SNP ENSG00000173213 ENST00000308911 human ensembl 74_37 -1 known silent c.186 p.R62 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors RP11-683L23.1 Clone_based_vega_gene ENSG00000173213 89 0 0 86 38 30.6452 LMAN1 0 genome.wustl.edu 37 18 57020469 57020469 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 57020469 57020469 G A SNP LMAN1 ENST00000251047 human ensembl 74_37 -1 known nonsense c.604 p.R202* 0.997 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom - no_errors LMAN1 HGNC ENSG00000074695 140 0 0 136 67 33.0049 TNFRSF11A 0 genome.wustl.edu 37 18 60035961 60035961 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 60035961 60035961 A G SNP TNFRSF11A ENST00000586569 human ensembl 74_37 +1 known missense c.811 p.T271A 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11A,prints_TNFR_11 - no_errors TNFRSF11A HGNC ENSG00000141655 79 0 0 68 33 32.6733 VPS4B 0 genome.wustl.edu 37 18 61067280 61067280 + Splice_Site SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 61067280 61067280 C T SNP VPS4B ENST00000238497 human ensembl 74_37 -1 known splice_site c.790+1 e7+1 1.000 - - - no_errors VPS4B HGNC ENSG00000119541 89 0 0 70 32 31.3725 CDH7 0 genome.wustl.edu 37 18 63529940 63529940 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 63529940 63529940 C T SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.1651 p.R551W 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 CDH7 HGNC ENSG00000081138 108 0 0 100 51 33.7748 CCDC102B 0 genome.wustl.edu 37 18 66678242 66678242 + Silent SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 66678242 66678242 T A SNP CCDC102B ENST00000319445 human ensembl 74_37 +1 known silent c.1335 p.T445 0.004 NULL NULL - no_errors CCDC102B HGNC ENSG00000150636 98 0 0 106 7 6.19469 RTTN 0 genome.wustl.edu 37 18 67755348 67755348 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 67755348 67755348 C T SNP RTTN ENST00000255674 human ensembl 74_37 -1 known silent c.4179 p.L1393 1.000 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 126 0 0 102 46 31.0811 CTDP1 0 genome.wustl.edu 37 18 77470424 77470424 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 77470424 77470424 C T SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known missense c.851 p.T284M 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 242 0 0 210 119 36.1702 SOGA2 0 genome.wustl.edu 37 18 8824732 8824732 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 8824732 8824732 G A SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.3224 p.R1075H 1.000 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 41 0 0 41 31 43.0556 RDH8 0 genome.wustl.edu 37 19 10132068 10132068 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 10132068 10132068 G T SNP RDH8 ENST00000591589 human ensembl 74_37 +1 known missense c.734 p.R245M 0.218 pirsf_17beta_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors RDH8 HGNC ENSG00000080511 134 0 0 127 61 32.4468 C3P1 0 genome.wustl.edu 37 19 10160712 10160712 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 10160712 10160712 C T SNP C3P1 ENST00000495140 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors C3P1 HGNC ENSG00000167798 151 0 0 116 45 27.9503 PDE4A 0 genome.wustl.edu 37 19 10568615 10568615 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 10568615 10568615 C T SNP PDE4A ENST00000352831 human ensembl 74_37 +1 known missense c.938 p.A313V 0.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 78 0 0 68 30 30.6122 SLC44A2 0 genome.wustl.edu 37 19 10746171 10746171 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 10746171 10746171 G A SNP SLC44A2 ENST00000335757 human ensembl 74_37 +1 known missense c.1213 p.A405T 0.016 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A2 HGNC ENSG00000129353 190 0 0 168 78 31.7073 TMED1 0 genome.wustl.edu 37 19 10943855 10943855 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 10943855 10943855 C T SNP TMED1 ENST00000214869 human ensembl 74_37 -1 known missense c.500 p.R167H 1.000 pfam_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED1 HGNC ENSG00000099203 43 0 0 26 14 35 C19orf52 0 genome.wustl.edu 37 19 11040108 11040108 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 11040108 11040108 C T SNP C19orf52 ENST00000270502 human ensembl 74_37 +1 known silent c.513 p.R171 1.000 pfam_DUF2366 pfam_DUF2366 - no_errors C19orf52 HGNC ENSG00000142444 42 0 0 26 17 39.5349 RAB3D 0 genome.wustl.edu 37 19 11446376 11446376 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 11446376 11446376 G A SNP RAB3D ENST00000222120 human ensembl 74_37 -1 known silent c.312 p.I104 0.994 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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_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 RAB3D HGNC ENSG00000105514 197 1 0.505051 166 91 35.4086 CCDC151 0 genome.wustl.edu 37 19 11537809 11537809 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 11537809 11537809 C T SNP CCDC151 ENST00000356392 human ensembl 74_37 -1 known missense c.496 p.A166T 0.113 NULL NULL - no_errors CCDC151 HGNC ENSG00000198003 35 0 0 29 17 36.9565 LOC100289333 0 genome.wustl.edu 37 19 12318305 12318305 + RNA SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 12318305 12318305 A G SNP LOC100289333 ENST00000415793 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2666L21.1 Clone_based_vega_gene ENSG00000234773 32 0 0 29 10 25.641 ZNF44 0 genome.wustl.edu 37 19 12383962 12383962 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 12383962 12383962 A G SNP ZNF44 ENST00000393337 human ensembl 74_37 -1 known missense c.1252 p.C418R 0.977 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF44 HGNC ENSG00000197857 133 0 0 116 65 35.9116 ZNF799 0 genome.wustl.edu 37 19 12503015 12503015 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 12503015 12503015 C T SNP ZNF799 ENST00000430385 human ensembl 74_37 -1 known missense c.197 p.R66H 0.019 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 ZNF799 HGNC ENSG00000196466 35 0 0 33 16 32.6531 NACC1 0 genome.wustl.edu 37 19 13249039 13249039 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 13249039 13249039 G A SNP NACC1 ENST00000292431 human ensembl 74_37 +1 known missense c.1403 p.R468H 1.000 pfam_BEN_domain pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors NACC1 HGNC ENSG00000160877 237 0 0 194 125 39.185 CACNA1A 0 genome.wustl.edu 37 19 13346469 13346469 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 13346469 13346469 T C SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.5026 p.T1676A 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 70 0 0 60 38 38.7755 PKN1 0 genome.wustl.edu 37 19 14582559 14582559 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 14582559 14582559 C T SNP PKN1 ENST00000342216 human ensembl 74_37 +1 known missense c.2810 p.A937V 0.025 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 PKN1 HGNC ENSG00000123143 12 0 0 10 6 37.5 GIPC1 0 genome.wustl.edu 37 19 14593766 14593766 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 14593766 14593766 C T SNP GIPC1 ENST00000345425 human ensembl 74_37 -1 known missense c.23 p.R8Q 1.000 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC1 HGNC ENSG00000123159 28 0 0 24 11 31.4286 NOTCH3 0 genome.wustl.edu 37 19 15281319 15281319 + Missense_Mutation SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 15281319 15281319 A C SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.4937 p.L1646R 0.998 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 64 0 0 52 22 29.7297 CYP4F22 0 genome.wustl.edu 37 19 15648443 15648443 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 15648443 15648443 G T SNP CYP4F22 ENST00000269703 human ensembl 74_37 +1 known missense c.519 p.K173N 0.998 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F22 HGNC ENSG00000171954 172 0 0 148 73 33.0317 CYP4F2 0 genome.wustl.edu 37 19 16000362 16000362 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 16000362 16000362 C T SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known silent c.789 p.V263 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 197 0 0 152 82 35.0427 OR10H4 0 genome.wustl.edu 37 19 16060359 16060359 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 16060359 16060359 A G SNP OR10H4 ENST00000322107 human ensembl 74_37 +1 known missense c.542 p.H181R 0.854 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H4 HGNC ENSG00000176231 275 0 0 205 108 34.5048 CIB3 0 genome.wustl.edu 37 19 16275656 16275656 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 16275656 16275656 C T SNP CIB3 ENST00000269878 human ensembl 74_37 -1 known missense c.415 p.G139R 1.000 NULL pfscan_EF_hand_dom - no_errors CIB3 HGNC ENSG00000141977 132 1 0.75188 116 38 24.6753 REXO1 0 genome.wustl.edu 37 19 1828587 1828587 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 1828587 1828587 G A SNP REXO1 ENST00000170168 human ensembl 74_37 -1 known silent c.201 p.P67 0.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 54 0 0 33 23 41.0714 KLF16 0 genome.wustl.edu 37 19 1854753 1854753 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 1854753 1854753 C T SNP KLF16 ENST00000250916 human ensembl 74_37 -1 known missense c.464 p.R155H 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF16 HGNC ENSG00000129911 54 0 0 35 20 36.3636 TMEM161A 0 genome.wustl.edu 37 19 19232368 19232368 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 19232368 19232368 C T SNP TMEM161A ENST00000162044 human ensembl 74_37 -1 known missense c.766 p.A256T 1.000 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161A HGNC ENSG00000064545 79 0 0 41 40 49.3827 ZNF430 0 genome.wustl.edu 37 19 21240210 21240210 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 21240210 21240210 A G SNP ZNF430 ENST00000261560 human ensembl 74_37 +1 known missense c.1096 p.I366V 0.894 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 ZNF430 HGNC ENSG00000118620 139 0 0 133 57 30 DOT1L 0 genome.wustl.edu 37 19 2210737 2210737 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 2210737 2210737 G A SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known missense c.1234 p.G412R 0.999 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 172 0 0 133 83 38.4259 AMH 0 genome.wustl.edu 37 19 2249524 2249524 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 2249524 2249524 G A SNP AMH ENST00000221496 human ensembl 74_37 +1 known missense c.193 p.G65S 0.000 pirsf_Muellerian-inhibiting_factor pfam_AMH_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_Muellerian-inhibiting_factor - no_errors AMH HGNC ENSG00000104899 19 0 0 16 12 42.8571 ZNF98 0 genome.wustl.edu 37 19 22575046 22575046 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 22575046 22575046 A G SNP ZNF98 ENST00000357774 human ensembl 74_37 -1 known missense c.991 p.F331L 0.169 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 ZNF98 HGNC ENSG00000197360 23 0 0 17 10 37.037 ZNF492 0 genome.wustl.edu 37 19 22846608 22846608 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 22846608 22846608 G A SNP ZNF492 ENST00000456783 human ensembl 74_37 +1 known missense c.137 p.C46Y 0.002 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 19 0 0 29 3 9.375 UQCRFS1 0 genome.wustl.edu 37 19 29698962 29698962 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 29698962 29698962 G A SNP UQCRFS1 ENST00000304863 human ensembl 74_37 -1 known silent c.318 p.S106 1.000 pfam_Ubiquinol_cyt_Rdtase_TM pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su - no_errors UQCRFS1 HGNC ENSG00000169021 100 0 0 88 46 34.3284 ZNF536 0 genome.wustl.edu 37 19 30935815 30935815 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 30935815 30935815 C A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.1346 p.P449H 0.992 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 68 0 0 54 30 35.7143 RGS9BP 0 genome.wustl.edu 37 19 33167385 33167385 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 33167385 33167385 C T SNP RGS9BP ENST00000334176 human ensembl 74_37 +1 known silent c.216 p.R72 0.782 NULL NULL - no_errors RGS9BP HGNC ENSG00000186326 9 0 0 8 7 46.6667 WDR88 0 genome.wustl.edu 37 19 33638559 33638559 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 33638559 33638559 C T SNP WDR88 ENST00000355868 human ensembl 74_37 +1 known missense c.485 p.A162V 0.970 pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR88 HGNC ENSG00000166359 82 0 0 64 23 26.4368 SCN1B 0 genome.wustl.edu 37 19 35523445 35523445 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 35523445 35523445 C T SNP SCN1B ENST00000262631 human ensembl 74_37 +1 known silent c.54 p.C18 0.966 NULL pfam_Immunoglobulin,pfam_Ig_V-set - no_errors SCN1B HGNC ENSG00000105711 167 0 0 130 76 36.8932 FAM187B 0 genome.wustl.edu 37 19 35719446 35719446 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 35719446 35719446 G T SNP FAM187B ENST00000324675 human ensembl 74_37 -1 known silent c.138 p.S46 0.000 NULL NULL - no_errors FAM187B HGNC ENSG00000177558 103 0 0 58 34 36.9565 TBXA2R 0 genome.wustl.edu 37 19 3600213 3600213 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 3600213 3600213 G A SNP TBXA2R ENST00000411851 human ensembl 74_37 -1 known silent c.420 p.R140 0.990 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC ENSG00000006638 19 0 0 24 13 35.1351 TBXA2R 0 genome.wustl.edu 37 19 3600354 3600354 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 3600354 3600354 G A SNP TBXA2R ENST00000411851 human ensembl 74_37 -1 known silent c.279 p.F93 0.313 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC ENSG00000006638 55 0 0 57 30 34.4828 TBXA2R 0 genome.wustl.edu 37 19 3600562 3600562 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 3600562 3600562 A G SNP TBXA2R ENST00000411851 human ensembl 74_37 -1 known missense c.71 p.L24P 0.008 prints_Thbox_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC ENSG00000006638 39 0 0 45 24 34.7826 GAPDHS 0 genome.wustl.edu 37 19 36034357 36034357 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 36034357 36034357 C T SNP GAPDHS ENST00000222286 human ensembl 74_37 +1 known missense c.857 p.A286V 1.000 pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_cat,tigrfam_Glyceraldehyde-3-P_DH_1 pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDHS HGNC ENSG00000105679 180 0 0 130 78 37.5 PIP5K1C 0 genome.wustl.edu 37 19 3633494 3633494 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 3633494 3633494 A G SNP PIP5K1C ENST00000335312 human ensembl 74_37 -1 known missense c.1945 p.Y649H 1.000 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 20 0 0 20 11 35.4839 KIRREL2 0 genome.wustl.edu 37 19 36351855 36351855 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 36351855 36351855 G A SNP KIRREL2 ENST00000360202 human ensembl 74_37 +1 known missense c.973 p.V325M 0.016 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 43 0 0 49 20 28.9855 PIP5K1C 0 genome.wustl.edu 37 19 3638999 3638999 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 3638999 3638999 C T SNP PIP5K1C ENST00000537021 human ensembl 74_37 -1 known silent c.1803 p.P601 0.005 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 51 0 0 47 16 25.3968 ZNF382 0 genome.wustl.edu 37 19 37117125 37117125 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 37117125 37117125 T G SNP ZNF382 ENST00000292928 human ensembl 74_37 +1 known missense c.326 p.L109R 0.229 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 ZNF382 HGNC ENSG00000161298 57 0 0 43 21 32.8125 ZNF585B 0 genome.wustl.edu 37 19 37697974 37697974 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 37697974 37697974 G T SNP ZNF585B ENST00000532828 human ensembl 74_37 -1 known missense c.40 p.L14M 0.281 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 ZNF585B HGNC ENSG00000245680 171 1 0.581395 161 58 26.484 SIPA1L3 0 genome.wustl.edu 37 19 38643562 38643562 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 38643562 38643562 G A SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.3616 p.G1206S 0.873 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 103 0 0 81 62 43.3566 ACTN4 0 genome.wustl.edu 37 19 39218557 39218557 + RNA SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 39218557 39218557 G A SNP ACTN4 ENST00000497637 human ensembl 74_37 +1 putative rna NULL NULL 0.002 - - - no_errors ACTN4 HGNC ENSG00000130402 25 0 0 16 8 33.3333 CAPN12 0 genome.wustl.edu 37 19 39228150 39228150 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 39228150 39228150 C T SNP CAPN12 ENST00000328867 human ensembl 74_37 -1 known missense c.1094 p.R365H 0.817 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC ENSG00000182472 70 0 0 47 39 45.3488 NCCRP1 0 genome.wustl.edu 37 19 39691292 39691292 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 39691292 39691292 C T SNP NCCRP1 ENST00000339852 human ensembl 74_37 +1 known missense c.724 p.R242C 1.000 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom - no_errors NCCRP1 HGNC ENSG00000188505 415 2 0.479616 363 188 34.1198 IFNL3 0 genome.wustl.edu 37 19 39734729 39734729 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 39734729 39734729 A G SNP IFNL3 ENST00000413851 human ensembl 74_37 -1 known silent c.327 p.A109 0.000 NULL NULL - no_errors IFNL3 HGNC ENSG00000197110 81 0 0 74 25 25.2525 EEF2 0 genome.wustl.edu 37 19 3977575 3977575 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 3977575 3977575 G A SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known missense c.2101 p.R701C 1.000 pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 15 0 0 11 7 38.8889 FCGBP 0 genome.wustl.edu 37 19 40424239 40424239 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 40424239 40424239 T G SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.1964 p.N655T 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 428 1 0.2331 331 201 37.782 MAP3K10 0 genome.wustl.edu 37 19 40719795 40719795 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 40719795 40719795 G A SNP MAP3K10 ENST00000253055 human ensembl 74_37 +1 known missense c.2209 p.G737S 0.012 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K10 HGNC ENSG00000130758 8 0 0 7 5 41.6667 SPTBN4 0 genome.wustl.edu 37 19 41008168 41008168 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 41008168 41008168 T C SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.1031 p.V344A 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat 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 79 0 0 94 43 31.3869 HNRNPUL1 0 genome.wustl.edu 37 19 41810111 41810111 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 41810111 41810111 C A SNP HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known missense c.2207 p.P736H 1.000 NULL pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL1 HGNC ENSG00000105323 118 1 0.840336 126 32 20.2532 ZNF526 0 genome.wustl.edu 37 19 42730321 42730321 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 42730321 42730321 G A SNP ZNF526 ENST00000301215 human ensembl 74_37 +1 known missense c.1766 p.R589Q 0.332 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 62 0 0 48 27 36 FSD1 0 genome.wustl.edu 37 19 4318416 4318416 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 4318416 4318416 C T SNP FSD1 ENST00000221856 human ensembl 74_37 +1 known silent c.873 p.D291 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors FSD1 HGNC ENSG00000105255 54 0 0 58 29 33.3333 PSG11 0 genome.wustl.edu 37 19 43519329 43519329 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 43519329 43519329 G A SNP PSG11 ENST00000320078 human ensembl 74_37 -1 known silent c.903 p.C301 0.001 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG11 HGNC ENSG00000243130 240 0 0 206 80 27.972 SH3GL1 0 genome.wustl.edu 37 19 4366969 4366969 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 4366969 4366969 C A SNP SH3GL1 ENST00000269886 human ensembl 74_37 -1 known missense c.68 p.G23V 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC ENSG00000141985 396 1 0.251889 319 157 32.9832 LOC100379224 0 genome.wustl.edu 37 19 44610464 44610464 + RNA SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 44610464 44610464 T C SNP LOC100379224 ENST00000592946 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC084219.4 Clone_based_vega_gene ENSG00000186019 21 0 0 17 14 45.1613 CEACAM20 0 genome.wustl.edu 37 19 45017279 45017279 + RNA SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 45017279 45017279 G A SNP CEACAM20 ENST00000316962 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CEACAM20 HGNC ENSG00000176395 51 0 0 48 22 31.4286 BCAM 0 genome.wustl.edu 37 19 45315630 45315630 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 45315630 45315630 G A SNP BCAM ENST00000270233 human ensembl 74_37 +1 known missense c.415 p.A139T 0.002 smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 26 0 0 23 14 37.8378 MARK4 0 genome.wustl.edu 37 19 45805630 45805630 + Splice_Site SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 45805630 45805630 A G SNP MARK4 ENST00000262891 human ensembl 74_37 +1 known splice_site c.1923-2 e17-2 1.000 - - - no_errors MARK4 HGNC ENSG00000007047 524 0 0 425 247 36.756 PPP1R13L 0 genome.wustl.edu 37 19 45901297 45901297 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 45901297 45901297 G A SNP PPP1R13L ENST00000360957 human ensembl 74_37 -1 known missense c.164 p.A55V 0.001 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 58 0 0 57 23 28.75 CD3EAP 0 genome.wustl.edu 37 19 45911523 45911523 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 45911523 45911523 G A SNP CD3EAP ENST00000589804 human ensembl 74_37 +1 known silent c.303 p.T101 0.000 pfam_DNA-dir_RNA_pol1_su_RPA34 pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 179 0 0 151 60 28.436 NANOS2 0 genome.wustl.edu 37 19 46417728 46417728 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 46417728 46417728 A G SNP NANOS2 ENST00000341294 human ensembl 74_37 -1 known missense c.224 p.V75A 0.926 pfam_Znf_nanos-typ pfam_Znf_nanos-typ - no_errors NANOS2 HGNC ENSG00000188425 64 0 0 80 34 29.8246 ARHGAP35 0 genome.wustl.edu 37 19 47422063 47422063 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 47422063 47422063 G A SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known missense c.131 p.R44H 1.000 superfamily_P-loop_NTPase pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 104 0 0 92 62 40.2597 DHX34 0 genome.wustl.edu 37 19 47884088 47884088 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 47884088 47884088 C T SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known missense c.2998 p.R1000W 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 84 0 0 65 17 20.7317 FAM83E 0 genome.wustl.edu 37 19 49106851 49106851 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 49106851 49106851 C T SNP FAM83E ENST00000263266 human ensembl 74_37 -1 known missense c.1076 p.R359H 0.010 NULL pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 10 0 0 9 9 50 FAM83E 0 genome.wustl.edu 37 19 49116511 49116511 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 49116511 49116511 C T SNP FAM83E ENST00000263266 human ensembl 74_37 -1 known missense c.119 p.S40N 0.877 pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 33 0 0 26 12 31.5789 SEC1P 0 genome.wustl.edu 37 19 49183540 49183540 + RNA SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 49183540 49183540 G A SNP SEC1P ENST00000430145 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors SEC1P HGNC ENSG00000232871 13 0 0 15 14 48.2759 SEC1P 0 genome.wustl.edu 37 19 49183901 49183901 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 49183901 49183901 C T SNP SEC1P ENST00000430145 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SEC1P HGNC ENSG00000232871 13 0 0 23 7 23.3333 SEC1P 0 genome.wustl.edu 37 19 49184043 49184043 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 49184043 49184043 C T SNP SEC1P ENST00000430145 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors SEC1P HGNC ENSG00000232871 14 0 0 26 10 27.7778 NOSIP 0 genome.wustl.edu 37 19 50059938 50059938 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 50059938 50059938 G A SNP NOSIP ENST00000391853 human ensembl 74_37 -1 known missense c.593 p.T198M 0.958 pirsf_Nitric_oxide_synth-interacting pirsf_Nitric_oxide_synth-interacting - no_errors NOSIP HGNC ENSG00000142546 32 0 0 24 14 36.8421 CPT1C 0 genome.wustl.edu 37 19 50208489 50208489 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 50208489 50208489 C T SNP CPT1C ENST00000323446 human ensembl 74_37 +1 known missense c.898 p.R300C 0.786 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1C HGNC ENSG00000169169 147 1 0.675676 136 81 37.3272 PTOV1 0 genome.wustl.edu 37 19 50360333 50360333 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 50360333 50360333 C T SNP PTOV1 ENST00000391842 human ensembl 74_37 +1 known silent c.660 p.Y220 0.997 pfam_Mediator_Med25 pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 355 0 0 268 152 36.1905 ZNF473 0 genome.wustl.edu 37 19 50549260 50549260 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 50549260 50549260 C T SNP ZNF473 ENST00000270617 human ensembl 74_37 +1 known silent c.1560 p.C520 0.997 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 ZNF473 HGNC ENSG00000142528 107 0 0 83 53 38.9706 SHANK1 0 genome.wustl.edu 37 19 51220008 51220008 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 51220008 51220008 G T SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.169 p.L57I 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,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 SHANK1 HGNC ENSG00000161681 60 0 0 51 35 40.6977 CD33 0 genome.wustl.edu 37 19 51728620 51728620 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 51728620 51728620 C T SNP CD33 ENST00000262262 human ensembl 74_37 +1 known missense c.184 p.R62W 0.439 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD33 HGNC ENSG00000105383 131 0 0 100 54 35.0649 PTPRS 0 genome.wustl.edu 37 19 5231328 5231328 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 5231328 5231328 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known silent c.2151 p.D717 0.994 superfamily_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,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 38 0 0 45 21 31.8182 PTPRS 0 genome.wustl.edu 37 19 5258116 5258116 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 5258116 5258116 A G SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known silent c.621 p.S207 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,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 133 0 0 96 64 40 ZNF836 0 genome.wustl.edu 37 19 52660326 52660326 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 52660326 52660326 A G SNP ZNF836 ENST00000322146 human ensembl 74_37 -1 known silent c.610 p.L204 0.001 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 ZNF836 HGNC ENSG00000196267 60 0 0 48 24 33.3333 ZNF83 0 genome.wustl.edu 37 19 53117526 53117526 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 53117526 53117526 G A SNP ZNF83 ENST00000301096 human ensembl 74_37 -1 known missense c.292 p.R98C 0.202 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC ENSG00000167766 86 0 0 80 45 36 ZNF160 0 genome.wustl.edu 37 19 53589549 53589549 + RNA SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 53589549 53589549 C A SNP ZNF160 ENST00000594760 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors ZNF160 HGNC ENSG00000170949 72 0 0 49 25 33.7838 LILRA3 0 genome.wustl.edu 37 19 54802622 54802622 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 54802622 54802622 G T SNP LILRA3 ENST00000251390 human ensembl 74_37 -1 known silent c.819 p.P273 0.000 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA3 HGNC ENSG00000170866 111 1 0.892857 89 38 29.9213 LILRA3 0 genome.wustl.edu 37 19 54802639 54802639 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 54802639 54802639 G A SNP LILRA3 ENST00000251390 human ensembl 74_37 -1 known missense c.802 p.R268C 0.000 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA3 HGNC ENSG00000170866 102 0 0 78 29 27.1028 LENG9 0 genome.wustl.edu 37 19 54974255 54974255 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 54974255 54974255 G A SNP LENG9 ENST00000333834 human ensembl 74_37 -1 known missense c.521 p.A174V 0.004 NULL superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH - no_errors LENG9 HGNC ENSG00000182909 37 0 0 30 7 18.9189 KIR3DX1 0 genome.wustl.edu 37 19 55049301 55049301 + RNA SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 55049301 55049301 A G SNP KIR3DX1 ENST00000482404 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors KIR3DX1 HGNC ENSG00000104970 76 0 0 63 36 36.3636 ENSG00000269808 0 genome.wustl.edu 37 19 55738739 55738739 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 55738739 55738739 C T SNP ENSG00000269808 ENST00000598855 human ensembl 74_37 +1 known missense c.101 p.A34V 0.957 NULL NULL - no_errors AC010327.2 Clone_based_ensembl_gene ENSG00000269808 18 0 0 9 4 30.7692 ZNF71 0 genome.wustl.edu 37 19 57132978 57132978 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 57132978 57132978 G A SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.323 p.G108D 0.009 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 74 0 0 51 34 40 ENSG00000268568 0 genome.wustl.edu 37 19 57184158 57184158 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 57184158 57184158 C T SNP ENSG00000268568 ENST00000602145 human ensembl 74_37 -1 known rna NULL NULL 0.161 - - - no_errors AC007228.9 Clone_based_vega_gene ENSG00000268568 31 0 0 18 6 25 ZNF773 0 genome.wustl.edu 37 19 58018753 58018753 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 58018753 58018753 T C SNP ZNF773 ENST00000282292 human ensembl 74_37 +1 known silent c.1290 p.L430 0.004 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 ZNF773 HGNC ENSG00000152439 109 0 0 112 55 32.9341 ZNF135 0 genome.wustl.edu 37 19 58573064 58573064 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 58573064 58573064 G T SNP ZNF135 ENST00000401053 human ensembl 74_37 +1 known silent c.186 p.L62 0.012 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 ZNF135 HGNC ENSG00000176293 186 1 0.534759 180 101 35.9431 ZNF497 0 genome.wustl.edu 37 19 58867759 58867759 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 58867759 58867759 C T SNP ZNF497 ENST00000311044 human ensembl 74_37 -1 known missense c.1243 p.A415T 0.116 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF497 HGNC ENSG00000174586 9 0 0 11 5 31.25 ZNF324B 0 genome.wustl.edu 37 19 58967318 58967318 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 58967318 58967318 C T SNP ZNF324B ENST00000336614 human ensembl 74_37 +1 known missense c.1007 p.T336M 0.989 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 ZNF324B HGNC ENSG00000249471 26 0 0 16 7 30.4348 ZNF446 0 genome.wustl.edu 37 19 58991071 58991071 + Missense_Mutation SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 58991071 58991071 A C SNP ZNF446 ENST00000594369 human ensembl 74_37 +1 known missense c.689 p.K230T 0.991 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box 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_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 34 0 0 23 10 30.303 RANBP3 0 genome.wustl.edu 37 19 5918577 5918577 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 5918577 5918577 G A SNP RANBP3 ENST00000340578 human ensembl 74_37 -1 known missense c.1403 p.A468V 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 100 0 0 98 63 39.1304 RFX2 0 genome.wustl.edu 37 19 6002856 6002856 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 6002856 6002856 T C SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known missense c.1526 p.Q509R 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 25 0 0 20 4 16.6667 VAV1 0 genome.wustl.edu 37 19 6833932 6833932 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 6833932 6833932 G A SNP VAV1 ENST00000602142 human ensembl 74_37 +1 known missense c.1745 p.R582H 0.815 NULL 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 131 0 0 128 64 33.3333 ARHGEF18 0 genome.wustl.edu 37 19 7518514 7518514 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 7518514 7518514 C T SNP ARHGEF18 ENST00000359920 human ensembl 74_37 +1 known missense c.1453 p.L485F 0.970 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 118 0 0 89 42 32.0611 MISP 0 genome.wustl.edu 37 19 757730 757730 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 757730 757730 C T SNP MISP ENST00000215582 human ensembl 74_37 +1 known missense c.784 p.R262C 0.000 NULL NULL - no_errors MISP HGNC ENSG00000099812 69 0 0 40 34 45.9459 EVI5L 0 genome.wustl.edu 37 19 7913812 7913812 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 7913812 7913812 G A SNP EVI5L ENST00000538904 human ensembl 74_37 +1 known silent c.333 p.L111 1.000 superfamily_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 EVI5L HGNC ENSG00000142459 34 0 0 32 15 31.9149 MAP2K7 0 genome.wustl.edu 37 19 7975205 7975205 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 7975205 7975205 G A SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.520 p.G174S 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 MAP2K7 HGNC ENSG00000076984 39 0 0 39 23 37.0968 MAP2K7 0 genome.wustl.edu 37 19 7976447 7976447 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 7976447 7976447 T C SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.1189 p.S397P 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 MAP2K7 HGNC ENSG00000076984 20 0 0 16 14 46.6667 FBN3 0 genome.wustl.edu 37 19 8201281 8201281 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 8201281 8201281 C T SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.1336 p.E446K 0.998 smart_EGF-like_Ca-bd_dom,smart_EG-like_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 117 0 0 92 34 26.9841 MED16 0 genome.wustl.edu 37 19 889762 889762 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 889762 889762 C T SNP MED16 ENST00000325464 human ensembl 74_37 -1 known nonsense c.323 p.W108* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 30 0 0 34 13 27.6596 MUC16 0 genome.wustl.edu 37 19 9077648 9077648 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 9077648 9077648 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.9798 p.T3266 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 174 0 0 122 64 34.4086 OR7G2 0 genome.wustl.edu 37 19 9213067 9213067 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 9213067 9213067 C T SNP OR7G2 ENST00000305456 human ensembl 74_37 -1 known missense c.916 p.V306M 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G2 HGNC ENSG00000170923 96 0 0 80 41 33.8843 OR7G2 0 genome.wustl.edu 37 19 9213738 9213738 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 9213738 9213738 A G SNP OR7G2 ENST00000305456 human ensembl 74_37 -1 known missense c.245 p.F82S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G2 HGNC ENSG00000170923 145 0 0 123 40 24.5399 ENSG00000216102 0 genome.wustl.edu 37 19 9931204 9931204 + RNA SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 9931204 9931204 A G SNP ENSG00000216102 ENST00000401283 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC008752.1 Clone_based_ensembl_gene ENSG00000216102 8 0 0 9 7 43.75 NPAS2 0 genome.wustl.edu 37 2 101565870 101565870 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 101565870 101565870 A G SNP NPAS2 ENST00000542504 human ensembl 74_37 +1 known missense c.721 p.S241G 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,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 81 0 0 111 7 5.9322 HPCAL1 0 genome.wustl.edu 37 2 10566920 10566920 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 10566920 10566920 C T SNP HPCAL1 ENST00000307845 human ensembl 74_37 +1 known silent c.555 p.C185 0.857 NULL pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors HPCAL1 HGNC ENSG00000115756 173 0 0 117 58 33.1429 UXS1 0 genome.wustl.edu 37 2 106717534 106717534 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 106717534 106717534 C T SNP UXS1 ENST00000283148 human ensembl 74_37 -1 known missense c.964 p.V322I 1.000 pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase - no_errors UXS1 HGNC ENSG00000115652 101 0 0 80 36 31.0345 SULT1C4 0 genome.wustl.edu 37 2 108994805 108994805 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 108994805 108994805 C T SNP SULT1C4 ENST00000272452 human ensembl 74_37 +1 known silent c.12 p.H4 0.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1C4 HGNC ENSG00000198075 309 0 0 268 136 33.6634 RANBP2 0 genome.wustl.edu 37 2 109371692 109371692 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 109371692 109371692 T C SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.2443 p.C815R 1.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 245 1 0.406504 333 19 5.39773 ANAPC1 0 genome.wustl.edu 37 2 112601029 112601029 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 112601029 112601029 A G SNP ANAPC1 ENST00000341068 human ensembl 74_37 -1 known missense c.2000 p.M667T 1.000 NULL NULL - no_errors ANAPC1 HGNC ENSG00000153107 87 0 0 73 36 33.0275 ANAPC1 0 genome.wustl.edu 37 2 112621311 112621311 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 112621311 112621311 T C SNP ANAPC1 ENST00000341068 human ensembl 74_37 -1 known silent c.993 p.S331 0.002 NULL NULL - no_errors ANAPC1 HGNC ENSG00000153107 81 0 0 88 45 33.8346 IL36G 0 genome.wustl.edu 37 2 113742478 113742478 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 113742478 113742478 G A SNP IL36G ENST00000259205 human ensembl 74_37 +1 known missense c.362 p.R121H 0.101 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1 - no_errors IL36G HGNC ENSG00000136688 173 0 0 151 72 32.287 FOXD4L1 0 genome.wustl.edu 37 2 114257884 114257884 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 114257884 114257884 T C SNP FOXD4L1 ENST00000306507 human ensembl 74_37 +1 known missense c.1051 p.Y351H 0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC ENSG00000184492 50 0 0 55 21 27.6316 SLC35F5 0 genome.wustl.edu 37 2 114512832 114512832 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 114512832 114512832 A G SNP SLC35F5 ENST00000245680 human ensembl 74_37 -1 known silent c.183 p.S61 1.000 NULL pfam_DMT - no_errors SLC35F5 HGNC ENSG00000115084 87 0 0 82 27 24.7706 DPP10 0 genome.wustl.edu 37 2 116520172 116520172 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 116520172 116520172 T C SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.1111 p.W371R 0.992 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 208 0 0 170 89 34.3629 NTSR2 0 genome.wustl.edu 37 2 11809758 11809758 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 11809758 11809758 G A SNP NTSR2 ENST00000306928 human ensembl 74_37 -1 known silent c.498 p.L166 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NT2_rcpt,prints_NT_rcpt,prints_GPCR_Rhodpsn - no_errors NTSR2 HGNC ENSG00000169006 9 0 0 21 8 27.5862 INHBB 0 genome.wustl.edu 37 2 121103981 121103981 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 121103981 121103981 G A SNP INHBB ENST00000295228 human ensembl 74_37 +1 known missense c.217 p.D73N 1.000 pfam_TGF-b_N,prints_Inhibin_betaB pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC ENSG00000163083 9 0 0 11 3 21.4286 CNTNAP5 0 genome.wustl.edu 37 2 125192170 125192170 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 125192170 125192170 A T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.639 p.Q213H 1.000 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 89 0 0 65 42 39.2523 PROC 0 genome.wustl.edu 37 2 128186037 128186037 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 128186037 128186037 G A SNP PROC ENST00000453608 human ensembl 74_37 +1 known missense c.1066 p.A356T 0.996 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors PROC HGNC ENSG00000115718 101 0 0 105 55 34.375 LIMS2 0 genome.wustl.edu 37 2 128400603 128400603 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 128400603 128400603 A G SNP LIMS2 ENST00000324938 human ensembl 74_37 -1 known missense c.476 p.L159P 1.000 pirsf_PINCH pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM - no_errors LIMS2 HGNC ENSG00000072163 11 0 0 4 8 66.6667 SAP130 0 genome.wustl.edu 37 2 128712741 128712741 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 128712741 128712741 G A SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known silent c.2319 p.A773 0.001 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 139 0 0 100 56 35.8974 CCDC74B 0 genome.wustl.edu 37 2 130897150 130897150 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 130897150 130897150 C T SNP CCDC74B ENST00000392984 human ensembl 74_37 -1 known missense c.1427 p.R476H 1.000 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 39 0 0 33 13 28.2609 NCKAP5 0 genome.wustl.edu 37 2 133542601 133542601 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 133542601 133542601 T A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.1783 p.S595C 0.995 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 83 0 0 77 23 23 THSD7B 0 genome.wustl.edu 37 2 138208468 138208468 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 138208468 138208468 G A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.3013 p.D1005N 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 59 0 0 50 27 35.0649 HNMT 0 genome.wustl.edu 37 2 138738852 138738852 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 138738852 138738852 G A SNP HNMT ENST00000329366 human ensembl 74_37 +1 known missense c.257 p.R86H 0.000 NULL NULL - no_errors HNMT HGNC ENSG00000150540 125 0 0 92 57 38.255 ZEB2 0 genome.wustl.edu 37 2 145156685 145156685 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 145156685 145156685 T C SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.2069 p.E690G 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 223 0 0 180 74 29.1339 ENSG00000212181 0 genome.wustl.edu 37 2 149018190 149018190 + RNA SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 149018190 149018190 A C SNP ENSG00000212181 ENST00000390879 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors SNORA48 RFAM ENSG00000212181 36 0 0 33 13 28.2609 TPO 0 genome.wustl.edu 37 2 1544465 1544465 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 1544465 1544465 G A SNP TPO ENST00000329066 human ensembl 74_37 +1 known silent c.2718 p.P906 0.006 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 82 0 0 70 37 34.5794 GPD2 0 genome.wustl.edu 37 2 157425876 157425876 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 157425876 157425876 T C SNP GPD2 ENST00000310454 human ensembl 74_37 +1 known silent c.1302 p.G434 1.000 pfam_FAD-dep_OxRdtase,prints_G3P_DH_FAD-dep pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep - no_errors GPD2 HGNC ENSG00000115159 84 0 0 79 43 35.2459 ACVR1 0 genome.wustl.edu 37 2 158634684 158634684 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 158634684 158634684 C T SNP ACVR1 ENST00000263640 human ensembl 74_37 -1 known missense c.502 p.E168K 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors ACVR1 HGNC ENSG00000115170 76 0 0 58 31 34.8315 PXDN 0 genome.wustl.edu 37 2 1670198 1670198 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 1670198 1670198 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.1079 p.T360M 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 18 0 0 32 5 13.5135 XIRP2 0 genome.wustl.edu 37 2 168104267 168104267 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 168104267 168104267 G A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.6365 p.G2122E 0.943 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 74 0 0 77 53 40.7692 XIRP2 0 genome.wustl.edu 37 2 168107832 168107832 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 168107832 168107832 G T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.9930 p.Q3310H 0.055 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 163 0 0 134 93 40.9692 PXDN 0 genome.wustl.edu 37 2 1684063 1684063 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 1684063 1684063 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.632 p.A211V 0.993 smart_Cys-rich_flank_reg_C 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 40 0 0 37 23 38.3333 ABCB11 0 genome.wustl.edu 37 2 169828384 169828384 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 169828384 169828384 G T SNP ABCB11 ENST00000263817 human ensembl 74_37 -1 known silent c.1611 p.A537 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB11 HGNC ENSG00000073734 78 0 0 64 26 28.8889 LRP2 0 genome.wustl.edu 37 2 170072887 170072887 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 170072887 170072887 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.5702 p.A1901V 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 102 0 0 81 44 35.2 LRP2 0 genome.wustl.edu 37 2 170134319 170134319 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 170134319 170134319 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.1708 p.R570C 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 206 0 0 145 104 41.7671 PPIG 0 genome.wustl.edu 37 2 170488344 170488344 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 170488344 170488344 T A SNP PPIG ENST00000260970 human ensembl 74_37 +1 known missense c.830 p.I277N 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 173 0 0 230 15 6.12245 METAP1D 0 genome.wustl.edu 37 2 172935589 172935589 + RNA SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 172935589 172935589 A G SNP METAP1D ENST00000468537 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors METAP1D HGNC ENSG00000172878 107 0 0 82 60 42.2535 DLX2 0 genome.wustl.edu 37 2 172966181 172966181 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 172966181 172966181 G A SNP DLX2 ENST00000466293 human ensembl 74_37 -1 putative silent c.594 p.L198 0.196 smart_Homeobox_dom pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors DLX2 HGNC ENSG00000115844 19 0 0 11 7 38.8889 HOXD12 0 genome.wustl.edu 37 2 176964613 176964613 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 176964613 176964613 C T SNP HOXD12 ENST00000406506 human ensembl 74_37 +1 known silent c.84 p.N28 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD12 HGNC ENSG00000170178 171 0 0 133 71 34.8039 HOXD10 0 genome.wustl.edu 37 2 176981694 176981694 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 176981694 176981694 A G SNP HOXD10 ENST00000249501 human ensembl 74_37 +1 known missense c.133 p.T45A 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD10 HGNC ENSG00000128710 180 0 0 141 69 32.8571 HNRNPA3 0 genome.wustl.edu 37 2 178080823 178080823 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 178080823 178080823 A G SNP HNRNPA3 ENST00000392524 human ensembl 74_37 +1 known missense c.460 p.T154A 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA3 HGNC ENSG00000170144 79 0 0 90 5 5.26316 TTN 0 genome.wustl.edu 37 2 179399998 179399998 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 179399998 179399998 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.93640 p.T31214A 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 132 0 0 107 58 35.1515 TTN 0 genome.wustl.edu 37 2 179407619 179407619 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 179407619 179407619 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.89258 p.G29753D 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 374 0 0 313 177 36.1224 TTN 0 genome.wustl.edu 37 2 179451992 179451992 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 179451992 179451992 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.56242 p.V18748I 0.917 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 99 49 33.1081 TTN 0 genome.wustl.edu 37 2 179471746 179471746 + Splice_Site SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 179471746 179471746 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known splice_site c.45877+2 e226+2 1.000 - - - no_errors TTN HGNC ENSG00000155657 118 0 0 82 43 34.4 TTN 0 genome.wustl.edu 37 2 179485917 179485917 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 179485917 179485917 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.37824 p.L12608 0.841 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 76 0 0 42 31 42.4658 TTN 0 genome.wustl.edu 37 2 179486301 179486301 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 179486301 179486301 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.37546 p.K12516E 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,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 112 0 0 83 61 42.3611 TTN 0 genome.wustl.edu 37 2 179599675 179599675 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 179599675 179599675 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.11244 p.L3748 0.992 pfam_Ig_V-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 22 0 0 12 12 50 TTN 0 genome.wustl.edu 37 2 179614709 179614709 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 179614709 179614709 T C SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.12418 p.T4140A 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 84 0 0 73 41 35.9649 MSGN1 0 genome.wustl.edu 37 2 17998228 17998228 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 17998228 17998228 G A SNP MSGN1 ENST00000281047 human ensembl 74_37 +1 known missense c.443 p.R148Q 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 MSGN1 HGNC ENSG00000151379 65 0 0 50 24 32.4324 NEUROD1 0 genome.wustl.edu 37 2 182543033 182543033 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 182543033 182543033 C T SNP NEUROD1 ENST00000295108 human ensembl 74_37 -1 known silent c.555 p.A185 0.002 pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 123 0 0 97 56 36.6013 NCKAP1 0 genome.wustl.edu 37 2 183860523 183860523 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 183860523 183860523 C T SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known missense c.665 p.R222Q 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 83 0 0 76 45 37.1901 TFPI 0 genome.wustl.edu 37 2 188332652 188332652 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 188332652 188332652 G T SNP TFPI ENST00000233156 human ensembl 74_37 -1 known missense c.636 p.H212Q 0.000 pirsf_Prot_inhib_I2_TFPI pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI HGNC ENSG00000003436 74 0 0 75 35 31.8182 MYT1L 0 genome.wustl.edu 37 2 1926341 1926341 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 1926341 1926341 C T SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known silent c.1200 p.A400 0.008 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 59 0 0 58 28 32.5581 DNAH7 0 genome.wustl.edu 37 2 196746682 196746682 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 196746682 196746682 A G SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.5798 p.L1933S 0.239 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 91 0 0 77 42 35.2941 C2orf66 0 genome.wustl.edu 37 2 197672182 197672182 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 197672182 197672182 A G SNP C2orf66 ENST00000342506 human ensembl 74_37 -1 known silent c.339 p.N113 0.000 NULL NULL - no_errors C2orf66 HGNC ENSG00000187944 99 0 0 113 71 38.587 WDR35 0 genome.wustl.edu 37 2 20130156 20130156 + Splice_Site SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 20130156 20130156 C T SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known splice_site c.3154+1 e26+1 1.000 - - - no_errors WDR35 HGNC ENSG00000118965 349 0 0 293 155 34.5982 SNORD11B 0 genome.wustl.edu 37 2 203156114 203156114 + RNA SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 203156114 203156114 T A SNP SNORD11B ENST00000607707 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD11B HGNC ENSG00000271852 22 0 0 25 14 35.8974 CTLA4 0 genome.wustl.edu 37 2 204735621 204735621 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 204735621 204735621 T C SNP CTLA4 ENST00000302823 human ensembl 74_37 +1 known missense c.422 p.L141P 0.102 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,prints_CTLA4 - no_errors CTLA4 HGNC ENSG00000163599 55 0 0 44 20 31.25 PARD3B 0 genome.wustl.edu 37 2 206050586 206050586 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 206050586 206050586 A G SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known missense c.2023 p.S675G 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 92 0 0 74 47 38.843 ZDBF2 0 genome.wustl.edu 37 2 207174184 207174184 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 207174184 207174184 T C SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known silent c.4932 p.D1644 0.002 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 70 0 0 64 42 39.6226 GDF7 0 genome.wustl.edu 37 2 20870891 20870891 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 20870891 20870891 G A SNP GDF7 ENST00000272224 human ensembl 74_37 +1 known silent c.1059 p.P353 0.949 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF7 HGNC ENSG00000143869 23 0 0 17 17 50 IKZF2 0 genome.wustl.edu 37 2 213872794 213872794 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 213872794 213872794 G A SNP IKZF2 ENST00000434687 human ensembl 74_37 -1 known nonsense c.871 p.R291* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC ENSG00000030419 46 0 0 45 14 23.7288 TNS1 0 genome.wustl.edu 37 2 218673324 218673324 + Splice_Site SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 218673324 218673324 A T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known splice_site c.5030+2 e26+2 1.000 - - - no_errors TNS1 HGNC ENSG00000079308 308 0 0 208 105 33.5463 TNS1 0 genome.wustl.edu 37 2 218682650 218682650 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 218682650 218682650 T G SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.4093 p.S1365R 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 34 0 0 24 15 38.4615 TNS1 0 genome.wustl.edu 37 2 218682831 218682831 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 218682831 218682831 G A SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known silent c.3912 p.L1304 0.943 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 35 0 0 29 16 35.5556 RNF25 0 genome.wustl.edu 37 2 219528977 219528977 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 219528977 219528977 G A SNP RNF25 ENST00000295704 human ensembl 74_37 -1 known silent c.1083 p.H361 0.001 NULL pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_RING,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF25 HGNC ENSG00000163481 209 0 0 175 55 23.913 STK36 0 genome.wustl.edu 37 2 219559251 219559251 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 219559251 219559251 G A SNP STK36 ENST00000295709 human ensembl 74_37 +1 known missense c.2404 p.A802T 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,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 STK36 HGNC ENSG00000163482 171 0 0 133 59 30.7292 STK36 0 genome.wustl.edu 37 2 219561249 219561249 + Splice_Site SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 219561249 219561249 G T SNP STK36 ENST00000295709 human ensembl 74_37 +1 known splice_site c.2512-1 e21-1 1.000 - - - no_errors STK36 HGNC ENSG00000163482 162 0 0 121 70 36.6492 CRYBA2 0 genome.wustl.edu 37 2 219856929 219856929 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 219856929 219856929 C T SNP CRYBA2 ENST00000295728 human ensembl 74_37 -1 known silent c.198 p.Q66 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 CRYBA2 HGNC ENSG00000163499 71 0 0 76 23 23.2323 MOGAT1 0 genome.wustl.edu 37 2 223553067 223553067 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 223553067 223553067 G A SNP MOGAT1 ENST00000446656 human ensembl 74_37 +1 known silent c.99 p.P33 0.042 NULL pfam_DAGAT - no_errors MOGAT1 HGNC ENSG00000124003 15 0 0 16 9 36 SERPINE2 0 genome.wustl.edu 37 2 224842297 224842297 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 224842297 224842297 T C SNP SERPINE2 ENST00000258405 human ensembl 74_37 -1 known missense c.1123 p.R375G 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE2 HGNC ENSG00000135919 222 0 0 146 95 39.4191 C2orf57 0 genome.wustl.edu 37 2 232458157 232458157 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 232458157 232458157 G A SNP C2orf57 ENST00000313965 human ensembl 74_37 +1 known silent c.495 p.Q165 0.006 NULL NULL - no_errors C2orf57 HGNC ENSG00000177673 68 0 0 61 49 44.5455 CHRND 0 genome.wustl.edu 37 2 233392150 233392150 + Nonsense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 233392150 233392150 G T SNP CHRND ENST00000258385 human ensembl 74_37 +1 known nonsense c.238 p.E80* 0.999 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRND HGNC ENSG00000135902 111 0 0 87 48 35.5556 TRPM8 0 genome.wustl.edu 37 2 234835246 234835246 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 234835246 234835246 C T SNP TRPM8 ENST00000324695 human ensembl 74_37 +1 known missense c.64 p.R22W 0.944 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 60 0 0 48 21 30.4348 HDAC4 0 genome.wustl.edu 37 2 240029856 240029856 + Missense_Mutation SNP G G C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 240029856 240029856 G C SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.1987 p.L663V 1.000 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 14 0 0 14 8 36.3636 HDAC4 0 genome.wustl.edu 37 2 240048352 240048352 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 240048352 240048352 C T SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.1318 p.A440T 0.996 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 57 0 0 42 20 32.2581 NDUFA10 0 genome.wustl.edu 37 2 240954271 240954271 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 240954271 240954271 T C SNP NDUFA10 ENST00000252711 human ensembl 74_37 -1 known missense c.554 p.D185G 1.000 pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase,pirsf_NADH_UbQ_OxRdtase_42KD_su pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase,pirsf_NADH_UbQ_OxRdtase_42KD_su - no_errors NDUFA10 HGNC ENSG00000130414 85 0 0 63 40 38.835 RNPEPL1 0 genome.wustl.edu 37 2 241516004 241516004 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 241516004 241516004 G A SNP RNPEPL1 ENST00000270357 human ensembl 74_37 +1 known silent c.870 p.P290 0.554 NULL pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEPL1 HGNC ENSG00000142327 49 0 0 31 22 41.5094 KIF1A 0 genome.wustl.edu 37 2 241683449 241683449 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 241683449 241683449 A G SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.3494 p.I1165T 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 174 0 0 160 75 31.9149 HDLBP 0 genome.wustl.edu 37 2 242176107 242176107 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 242176107 242176107 C T SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.2827 p.G943S 0.000 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 124 0 0 92 56 37.8378 CXXC11 0 genome.wustl.edu 37 2 242815392 242815392 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 242815392 242815392 G A SNP CXXC11 ENST00000343216 human ensembl 74_37 +1 known missense c.1685 p.R562Q 0.000 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 284 0 0 213 125 36.9822 POMC 0 genome.wustl.edu 37 2 25384348 25384348 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 25384348 25384348 T C SNP POMC ENST00000264708 human ensembl 74_37 -1 known missense c.406 p.K136E 1.000 NULL pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC ENSG00000115138 13 0 0 8 3 27.2727 DNMT3A 0 genome.wustl.edu 37 2 25523110 25523110 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 25523110 25523110 G A SNP DNMT3A ENST00000264709 human ensembl 74_37 -1 known silent c.75 p.D25 0.999 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3A HGNC ENSG00000119772 48 0 0 33 17 34 OTOF 0 genome.wustl.edu 37 2 26684657 26684657 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 26684657 26684657 T C SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.5440 p.M1814V 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 204 0 0 165 86 34.2629 EIF2B4 0 genome.wustl.edu 37 2 27591882 27591882 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 27591882 27591882 T G SNP EIF2B4 ENST00000347454 human ensembl 74_37 -1 known missense c.409 p.T137P 0.878 NULL pfam_IF-2B-related - no_errors EIF2B4 HGNC ENSG00000115211 141 0 0 100 48 32.4324 C2orf16 0 genome.wustl.edu 37 2 27801187 27801187 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 27801187 27801187 C T SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.1748 p.T583I 0.173 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 72 0 0 54 34 38.6364 BIRC6 0 genome.wustl.edu 37 2 32656153 32656153 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 32656153 32656153 C T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known silent c.3243 p.T1081 0.987 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 34 0 0 25 18 41.8605 ENSG00000237370 0 genome.wustl.edu 37 2 3651760 3651760 + RNA SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 3651760 3651760 T C SNP ENSG00000237370 ENST00000456450 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC010907.2 Clone_based_vega_gene ENSG00000237370 25 0 0 25 21 45.6522 COLEC11 0 genome.wustl.edu 37 2 3687869 3687869 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 3687869 3687869 T C SNP COLEC11 ENST00000418971 human ensembl 74_37 +1 known silent c.318 p.G106 1.000 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC11 HGNC ENSG00000118004 31 0 0 24 10 29.4118 DHX57 0 genome.wustl.edu 37 2 39095333 39095333 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 39095333 39095333 C T SNP DHX57 ENST00000295373 human ensembl 74_37 -1 known missense c.215 p.R72H 0.002 NULL pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 117 0 0 99 49 33.1081 PKDCC 0 genome.wustl.edu 37 2 42281307 42281307 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 42281307 42281307 C T SNP PKDCC ENST00000294964 human ensembl 74_37 +1 known silent c.894 p.D298 0.986 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors PKDCC HGNC ENSG00000162878 28 0 0 21 16 43.2432 COX7A2L 0 genome.wustl.edu 37 2 42578377 42578377 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 42578377 42578377 C T SNP COX7A2L ENST00000234301 human ensembl 74_37 -1 known silent c.327 p.S109 0.368 pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a,pirsf_Cyt_c_oxidase_su7a-rel_mt pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a,pirsf_Cyt_c_oxidase_su7a-rel_mt - no_errors COX7A2L HGNC ENSG00000115944 26 0 0 45 21 31.8182 MCFD2 0 genome.wustl.edu 37 2 47135054 47135054 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 47135054 47135054 C T SNP MCFD2 ENST00000319466 human ensembl 74_37 -1 known silent c.204 p.S68 0.046 NULL pfscan_EF_hand_dom - no_errors MCFD2 HGNC ENSG00000180398 102 0 0 83 33 28.4483 PSME4 0 genome.wustl.edu 37 2 54164655 54164655 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 54164655 54164655 C T SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known missense c.568 p.A190T 1.000 NULL pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 107 0 0 93 56 37.5839 AAK1 0 genome.wustl.edu 37 2 69741805 69741805 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 69741805 69741805 T G SNP AAK1 ENST00000409085 human ensembl 74_37 -1 known missense c.1574 p.Q525P 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 AAK1 HGNC ENSG00000115977 27 0 0 17 13 43.3333 MPHOSPH10 0 genome.wustl.edu 37 2 71360356 71360356 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 71360356 71360356 G A SNP MPHOSPH10 ENST00000244230 human ensembl 74_37 +1 known missense c.418 p.D140N 0.002 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC ENSG00000124383 94 0 0 84 35 29.4118 CCDC142 0 genome.wustl.edu 37 2 74702431 74702431 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 74702431 74702431 C T SNP CCDC142 ENST00000393965 human ensembl 74_37 -1 known missense c.1717 p.A573T 1.000 NULL NULL - no_errors CCDC142 HGNC ENSG00000135637 122 1 0.813008 124 59 32.2404 DQX1 0 genome.wustl.edu 37 2 74746779 74746779 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 74746779 74746779 C T SNP DQX1 ENST00000393951 human ensembl 74_37 -1 known missense c.1710 p.M570I 1.000 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 154 0 0 141 77 35.3211 TACR1 0 genome.wustl.edu 37 2 75347784 75347784 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 75347784 75347784 T C SNP TACR1 ENST00000305249 human ensembl 74_37 -1 known missense c.500 p.Y167C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NK1_rcpt,prints_GPCR_Rhodpsn,prints_NK3_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt - no_errors TACR1 HGNC ENSG00000115353 130 0 0 117 43 26.875 CTNNA2 0 genome.wustl.edu 37 2 80773145 80773145 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 80773145 80773145 C T SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known silent c.1599 p.A533 0.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 54 0 0 35 24 40.678 SUCLG1 0 genome.wustl.edu 37 2 84668521 84668521 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 84668521 84668521 A G SNP SUCLG1 ENST00000393868 human ensembl 74_37 -1 known silent c.381 p.A127 0.953 pfam_CoA-bd,smart_CoA-bd,pirsf_CoA_lig_alpha,tigrfam_CoA_lig_alpha pfam_CoA-bd,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_CoA_lig_alpha,prints_CoA_lig_alpha,tigrfam_CoA_lig_alpha - no_errors SUCLG1 HGNC ENSG00000163541 54 0 0 66 38 36.5385 TCF7L1 0 genome.wustl.edu 37 2 85536512 85536512 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 85536512 85536512 C T SNP TCF7L1 ENST00000282111 human ensembl 74_37 +1 known missense c.1694 p.T565M 0.929 NULL pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L1 HGNC ENSG00000152284 123 0 0 110 45 29.0323 GGCX 0 genome.wustl.edu 37 2 85779652 85779652 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 85779652 85779652 G A SNP GGCX ENST00000233838 human ensembl 74_37 -1 known silent c.1326 p.D442 1.000 pfam_VKG_COase pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM - no_errors GGCX HGNC ENSG00000115486 205 0 0 147 107 42.126 TEKT4 0 genome.wustl.edu 37 2 95537771 95537771 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 95537771 95537771 C T SNP TEKT4 ENST00000295201 human ensembl 74_37 +1 known silent c.447 p.R149 0.988 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 8 0 0 8 6 42.8571 SNRNP200 0 genome.wustl.edu 37 2 96956125 96956125 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 96956125 96956125 A G SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known missense c.2681 p.V894A 0.998 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Sec63-dom,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,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 245 1 0.406504 196 95 32.646 ZAP70 0 genome.wustl.edu 37 2 98354255 98354255 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 98354255 98354255 C T SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known silent c.1518 p.Y506 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,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 213 0 0 178 88 33.0827 TSGA10 0 genome.wustl.edu 37 2 99695187 99695187 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 99695187 99695187 G T SNP TSGA10 ENST00000355053 human ensembl 74_37 -1 known missense c.817 p.L273M 1.000 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 85 0 0 79 50 38.7597 KIF16B 0 genome.wustl.edu 37 20 16359766 16359766 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 16359766 16359766 C T SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.2881 p.A961T 0.363 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 244 0 0 222 131 37.1105 CSRP2BP 0 genome.wustl.edu 37 20 18123412 18123412 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 18123412 18123412 G A SNP CSRP2BP ENST00000435364 human ensembl 74_37 +1 known silent c.108 p.T36 0.011 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 61 0 0 58 45 43.6893 DZANK1 0 genome.wustl.edu 37 20 18370425 18370425 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 18370425 18370425 G A SNP DZANK1 ENST00000262547 human ensembl 74_37 -1 known silent c.1938 p.T646 0.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors DZANK1 HGNC ENSG00000089091 219 0 0 178 91 33.829 PAX1 0 genome.wustl.edu 37 20 21687475 21687475 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 21687475 21687475 C T SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known missense c.686 p.A229V 1.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 51 0 0 50 28 35.8974 TGM3 0 genome.wustl.edu 37 20 2312896 2312896 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 2312896 2312896 G T SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known missense c.1582 p.G528C 0.995 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 29 0 0 35 13 27.0833 NINL 0 genome.wustl.edu 37 20 25456684 25456684 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 25456684 25456684 G A SNP NINL ENST00000278886 human ensembl 74_37 -1 known silent c.3243 p.N1081 0.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 83 0 0 64 40 38.4615 DNMT3B 0 genome.wustl.edu 37 20 31387087 31387087 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 31387087 31387087 G A SNP DNMT3B ENST00000328111 human ensembl 74_37 +1 known missense c.1712 p.R571Q 0.628 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 19 0 0 19 9 32.1429 MAPRE1 0 genome.wustl.edu 37 20 31427577 31427577 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 31427577 31427577 C T SNP MAPRE1 ENST00000375571 human ensembl 74_37 +1 known missense c.512 p.A171V 0.997 NULL pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain - no_errors MAPRE1 HGNC ENSG00000101367 484 0 0 382 230 37.5817 AHCY 0 genome.wustl.edu 37 20 32878616 32878616 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 32878616 32878616 G A SNP AHCY ENST00000217426 human ensembl 74_37 -1 known silent c.687 p.A229 0.994 pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,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 AHCY HGNC ENSG00000101444 160 0 0 225 12 5.06329 GGT7 0 genome.wustl.edu 37 20 33451198 33451198 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 33451198 33451198 G A SNP GGT7 ENST00000336431 human ensembl 74_37 -1 novel missense c.323 p.T108M 1.000 NULL pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT7 HGNC ENSG00000131067 39 0 0 44 11 20 GSS 0 genome.wustl.edu 37 20 33530761 33530761 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 33530761 33530761 C T SNP GSS ENST00000216951 human ensembl 74_37 -1 known silent c.324 p.K108 1.000 pfam_Glutathione_synthase_euk,pirsf_Glutathione_synthase_euk,tigrfam_Glutathione_synthase_euk pfam_Glutathione_synthase_euk,pfam_Glutathione_synth_subst-bd_euk,superfamily_PreATP-grasp_dom,pirsf_Glutathione_synthase_euk,tigrfam_Glutathione_synthase_euk - no_errors GSS HGNC ENSG00000100983 31 0 0 23 8 25.8065 SNORA60 0 genome.wustl.edu 37 20 37078014 37078014 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 37078014 37078014 C T SNP SNORA60 ENST00000362396 human ensembl 74_37 +1 known rna NULL NULL 0.979 - - - no_errors SNORA60 HGNC ENSG00000199266 550 1 0.181488 463 232 33.3813 SLC32A1 0 genome.wustl.edu 37 20 37356949 37356949 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 37356949 37356949 C T SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known silent c.1245 p.R415 0.998 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 57 0 0 55 36 39.5604 PTPRT 0 genome.wustl.edu 37 20 40911166 40911166 + Splice_Site SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 40911166 40911166 C T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known splice_site c.2140-1 e13-1 1.000 - - - no_errors PTPRT HGNC ENSG00000196090 108 0 0 90 59 39.5973 IFT52 0 genome.wustl.edu 37 20 42252676 42252676 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 42252676 42252676 G T SNP IFT52 ENST00000373030 human ensembl 74_37 +1 known missense c.914 p.S305I 1.000 NULL pfam_ABC_transp_unknown - no_errors IFT52 HGNC ENSG00000101052 302 0 0 257 117 31.2834 SERINC3 0 genome.wustl.edu 37 20 43141554 43141554 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 43141554 43141554 A G SNP SERINC3 ENST00000255175 human ensembl 74_37 -1 known missense c.283 p.Y95H 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC3 HGNC ENSG00000132824 123 0 0 119 49 29.1667 KCNS1 0 genome.wustl.edu 37 20 43727239 43727239 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 43727239 43727239 G A SNP KCNS1 ENST00000306117 human ensembl 74_37 -1 known silent c.174 p.G58 0.937 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 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_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6 - no_errors KCNS1 HGNC ENSG00000124134 11 0 0 4 10 71.4286 ZSWIM3 0 genome.wustl.edu 37 20 44505669 44505669 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 44505669 44505669 T C SNP ZSWIM3 ENST00000255152 human ensembl 74_37 +1 known missense c.472 p.S158P 0.005 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 69 0 0 72 28 28 CD40 0 genome.wustl.edu 37 20 44747031 44747031 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 44747031 44747031 G A SNP CD40 ENST00000372285 human ensembl 74_37 +1 known missense c.49 p.A17T 0.708 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_5,prints_Fas_rcpt - no_errors CD40 HGNC ENSG00000101017 49 0 0 45 24 34.7826 CDH22 0 genome.wustl.edu 37 20 44839105 44839105 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 44839105 44839105 C T SNP CDH22 ENST00000372262 human ensembl 74_37 -1 known missense c.1127 p.R376H 0.999 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 30 0 0 22 15 40.5405 ZNF334 0 genome.wustl.edu 37 20 45130215 45130215 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 45130215 45130215 A G SNP ZNF334 ENST00000347606 human ensembl 74_37 -1 known missense c.1763 p.V588A 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 ZNF334 HGNC ENSG00000198185 239 0 0 253 66 20.6897 NCOA3 0 genome.wustl.edu 37 20 46265284 46265284 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 46265284 46265284 C T SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known silent c.2154 p.D718 0.237 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,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 NCOA3 HGNC ENSG00000124151 86 0 0 74 51 40.8 SPATA2 0 genome.wustl.edu 37 20 48522877 48522877 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 48522877 48522877 G A SNP SPATA2 ENST00000289431 human ensembl 74_37 -1 known missense c.842 p.T281M 0.112 NULL NULL - no_errors SPATA2 HGNC ENSG00000158480 96 0 0 85 45 34.6154 ADNP 0 genome.wustl.edu 37 20 49510674 49510674 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 49510674 49510674 C A SNP ADNP ENST00000349014 human ensembl 74_37 -1 known missense c.577 p.A193S 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 211 1 0.471698 184 91 33.0909 ADNP 0 genome.wustl.edu 37 20 49510754 49510754 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 49510754 49510754 T C SNP ADNP ENST00000349014 human ensembl 74_37 -1 known missense c.497 p.Y166C 1.000 smart_Znf_C2H2-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 353 0 0 351 126 26.4151 ZFP64 0 genome.wustl.edu 37 20 50705027 50705027 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 50705027 50705027 G A SNP ZFP64 ENST00000361387 human ensembl 74_37 -1 known missense c.1132 p.R378W 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 131 0 0 118 79 40.1015 TSHZ2 0 genome.wustl.edu 37 20 51872037 51872037 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 51872037 51872037 C T SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known silent c.2040 p.C680 0.018 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 69 0 0 52 31 37.3494 BCAS1 0 genome.wustl.edu 37 20 52645436 52645436 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 52645436 52645436 G A SNP BCAS1 ENST00000371440 human ensembl 74_37 -1 known missense c.218 p.A73V 0.005 NULL NULL - no_errors BCAS1 HGNC ENSG00000064787 72 0 0 37 35 48.6111 GPCPD1 0 genome.wustl.edu 37 20 5528289 5528289 + RNA SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 5528289 5528289 A G SNP GPCPD1 ENST00000462080 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors GPCPD1 HGNC ENSG00000125772 93 0 0 116 38 24.6753 TUBB1 0 genome.wustl.edu 37 20 57597917 57597917 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 57597917 57597917 T C SNP TUBB1 ENST00000217133 human ensembl 74_37 +1 known silent c.75 p.G25 0.594 pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Alpha_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 69 0 0 58 42 42 ZNF831 0 genome.wustl.edu 37 20 57769627 57769627 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 57769627 57769627 T C SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.3553 p.W1185R 0.989 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 82 0 0 78 47 37.6 PPP1R3D 0 genome.wustl.edu 37 20 58514148 58514148 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 58514148 58514148 C T SNP PPP1R3D ENST00000370996 human ensembl 74_37 -1 known missense c.839 p.R280H 1.000 pirsf_Pase-1_Glycogen_target-su_met pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3D HGNC ENSG00000132825 70 0 0 60 36 37.5 CDH4 0 genome.wustl.edu 37 20 60498546 60498546 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 60498546 60498546 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.1412 p.T471I 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 79 0 0 59 51 46.3636 CDH4 0 genome.wustl.edu 37 20 60509183 60509183 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 60509183 60509183 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.2449 p.R817C 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 67 0 0 58 31 34.8315 LAMA5 0 genome.wustl.edu 37 20 60887787 60887787 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 60887787 60887787 A G SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.9128 p.V3043A 0.971 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 12 0 0 5 5 50 ZNF512B 0 genome.wustl.edu 37 20 62598853 62598853 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 62598853 62598853 G A SNP ZNF512B ENST00000217130 human ensembl 74_37 -1 known nonsense c.145 p.Q49* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 171 0 0 161 82 33.7449 OPRL1 0 genome.wustl.edu 37 20 62729410 62729410 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 62729410 62729410 G A SNP OPRL1 ENST00000336866 human ensembl 74_37 +1 known silent c.489 p.T163 0.263 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Opioid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRL1 HGNC ENSG00000125510 118 0 0 88 58 39.726 NPBWR2 0 genome.wustl.edu 37 20 62738003 62738003 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 62738003 62738003 G A SNP NPBWR2 ENST00000369768 human ensembl 74_37 -1 known missense c.182 p.T61I 0.999 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors NPBWR2 HGNC ENSG00000125522 54 0 0 42 35 45.4545 MYT1 0 genome.wustl.edu 37 20 62839761 62839761 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 62839761 62839761 G A SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known silent c.1212 p.E404 0.156 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 25 0 0 38 14 26.9231 MYT1 0 genome.wustl.edu 37 20 62871118 62871118 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 62871118 62871118 C A SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known silent c.3180 p.S1060 0.886 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 128 1 0.775194 76 62 44.9275 TPTE 0 genome.wustl.edu 37 21 10969127 10969127 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 10969127 10969127 G T SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.121 p.P41T 0.001 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 292 1 0.341297 316 64 16.8421 KRTAP13-2 0 genome.wustl.edu 37 21 31744414 31744414 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 31744414 31744414 G T SNP KRTAP13-2 ENST00000399889 human ensembl 74_37 -1 known missense c.118 p.L40I 0.000 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-2 HGNC ENSG00000182816 136 0 0 132 64 32.6531 SYNJ1 0 genome.wustl.edu 37 21 34045776 34045776 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 34045776 34045776 G A SNP SYNJ1 ENST00000433931 human ensembl 74_37 -1 known nonsense c.1717 p.R573* 1.000 superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 84 0 0 74 46 38.3333 ZBTB21 0 genome.wustl.edu 37 21 43411232 43411232 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 43411232 43411232 T C SNP ZBTB21 ENST00000310826 human ensembl 74_37 -1 known silent c.2973 p.P991 0.003 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 183 0 0 165 60 26.6667 CBS 0 genome.wustl.edu 37 21 44486452 44486452 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 44486452 44486452 C T SNP CBS ENST00000398168 human ensembl 74_37 -1 known missense c.352 p.V118M 1.000 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Cysta_beta_synth pfam_Trp_syn_b_sub_like_PLP_eny_SF,pfam_CBS_dom,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_CBS_dom,tigrfam_Cysta_beta_synth - no_errors CBS HGNC ENSG00000160200 101 0 0 81 46 36.2205 PDXK 0 genome.wustl.edu 37 21 45163612 45163612 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 45163612 45163612 G A SNP PDXK ENST00000291565 human ensembl 74_37 +1 known silent c.255 p.T85 0.124 pfam_PfkB_dom,tigrfam_PyrdxlP_synth_PyrdxlKinase pfam_PfkB_dom,pfam_HMP-P_kinase-1,tigrfam_PyrdxlP_synth_PyrdxlKinase - no_errors PDXK HGNC ENSG00000160209 32 0 0 32 17 34.6939 AGPAT3 0 genome.wustl.edu 37 21 45401009 45401009 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 45401009 45401009 G A SNP AGPAT3 ENST00000291572 human ensembl 74_37 +1 known missense c.983 p.G328D 0.992 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT3 HGNC ENSG00000160216 98 0 0 108 7 6.08696 PWP2 0 genome.wustl.edu 37 21 45540963 45540963 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 45540963 45540963 C T SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known missense c.1616 p.T539M 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 31 0 0 37 18 32.7273 TSPEAR 0 genome.wustl.edu 37 21 45941887 45941887 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 45941887 45941887 A G SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known missense c.1445 p.F482S 1.000 NULL pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 253 0 0 248 89 26.4095 SUMO3 0 genome.wustl.edu 37 21 46228957 46228957 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 46228957 46228957 C T SNP SUMO3 ENST00000397898 human ensembl 74_37 -1 novel missense c.227 p.R76Q 0.828 smart_Ubiquitin_dom pfam_Rad60/SUMO_like,pfam_Ubiquitin_dom,smart_Ubiquitin_dom - no_errors SUMO3 HGNC ENSG00000184900 65 0 0 38 22 36.6667 LSS 0 genome.wustl.edu 37 21 47611799 47611799 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 47611799 47611799 G A SNP LSS ENST00000356396 human ensembl 74_37 -1 known missense c.2063 p.P688L 1.000 superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC ENSG00000160285 21 0 0 9 11 55 MCM3AP 0 genome.wustl.edu 37 21 47695152 47695152 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 47695152 47695152 C T SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.1946 p.R649Q 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 38 0 0 31 26 45.614 CECR2 0 genome.wustl.edu 37 22 18022149 18022149 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 18022149 18022149 G A SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel missense c.2251 p.V751I 0.714 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 62 0 0 60 26 30.2326 MICAL3 0 genome.wustl.edu 37 22 18347700 18347700 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 18347700 18347700 G A SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.2570 p.A857V 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 142 0 0 106 60 36.1446 TUBA8 0 genome.wustl.edu 37 22 18604328 18604328 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 18604328 18604328 G A SNP TUBA8 ENST00000330423 human ensembl 74_37 +1 known missense c.86 p.G29D 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA8 HGNC ENSG00000183785 70 0 0 60 42 41.1765 ENSG00000272682 0 genome.wustl.edu 37 22 19112760 19112760 + RNA SNP G G C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 19112760 19112760 G C SNP ENSG00000272682 ENST00000609936 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC004471.10 Clone_based_vega_gene ENSG00000272682 75 0 0 49 27 35.5263 CLTCL1 0 genome.wustl.edu 37 22 19197931 19197931 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 19197931 19197931 C T SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known missense c.3154 p.A1052T 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 61 0 0 66 43 39.4495 LZTR1 0 genome.wustl.edu 37 22 21342386 21342386 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 21342386 21342386 C T SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known missense c.488 p.T163M 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 139 1 0.714286 118 60 33.7079 CCDC116 0 genome.wustl.edu 37 22 21989291 21989291 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 21989291 21989291 G A SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known silent c.939 p.L313 1.000 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 104 1 0.952381 105 58 35.5828 PPIL2 0 genome.wustl.edu 37 22 22025326 22025326 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 22025326 22025326 G A SNP PPIL2 ENST00000412327 human ensembl 74_37 +1 known missense c.169 p.D57N 0.963 pfam_Rtf2_RING-finger,smart_Ubox_domain pfam_Cyclophilin-like_PPIase_dom,pfam_Rtf2_RING-finger,superfamily_Cyclophilin-like_PPIase_dom,smart_Ubox_domain,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL2 HGNC ENSG00000100023 354 0 0 276 138 33.3333 SUSD2 0 genome.wustl.edu 37 22 24579170 24579170 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 24579170 24579170 C T SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known silent c.222 p.G74 0.014 superfamily_Ig_E-set pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 79 0 0 57 28 32.9412 POM121L9P 0 genome.wustl.edu 37 22 24659671 24659671 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 24659671 24659671 C T SNP POM121L9P ENST00000414583 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors POM121L9P HGNC ENSG00000128262 46 0 0 45 8 15.0943 FAM211B 0 genome.wustl.edu 37 22 24981946 24981946 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 24981946 24981946 C A SNP FAM211B ENST00000318753 human ensembl 74_37 -1 known missense c.856 p.G286C 0.069 NULL NULL - no_errors FAM211B HGNC ENSG00000178026 70 0 0 44 27 38.0282 KREMEN1 0 genome.wustl.edu 37 22 29490351 29490351 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 29490351 29490351 A G SNP KREMEN1 ENST00000327813 human ensembl 74_37 +1 known missense c.203 p.Y68C 1.000 pirsf_Kremen,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle 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 113 0 0 99 22 18.1818 THOC5 0 genome.wustl.edu 37 22 29913074 29913074 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 29913074 29913074 G A SNP THOC5 ENST00000397871 human ensembl 74_37 -1 known missense c.1625 p.A542V 0.985 NULL pfam_THO_Thoc5 - no_errors THOC5 HGNC ENSG00000100296 133 0 0 105 57 35.1852 MTMR3 0 genome.wustl.edu 37 22 30412615 30412615 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 30412615 30412615 T C SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known silent c.1602 p.C534 0.997 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 226 0 0 210 86 29.0541 LIF 0 genome.wustl.edu 37 22 30640888 30640888 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 30640888 30640888 T C SNP LIF ENST00000249075 human ensembl 74_37 -1 known silent c.54 p.K18 0.996 pfam_Leukemia_IF/oncostatin,prints_Leukemia_IF pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin,prints_Leukemia_IF - no_errors LIF HGNC ENSG00000128342 57 0 0 79 6 7.05882 PATZ1 0 genome.wustl.edu 37 22 31737553 31737553 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 31737553 31737553 G A SNP PATZ1 ENST00000215919 human ensembl 74_37 -1 known silent c.1452 p.T484 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 PATZ1 HGNC ENSG00000100105 114 0 0 112 58 34.1176 PISD 0 genome.wustl.edu 37 22 32021813 32021813 + RNA SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 32021813 32021813 G T SNP PISD ENST00000486675 human ensembl 74_37 -1 known rna NULL NULL 0.477 - - - no_errors PISD HGNC ENSG00000241878 13 0 0 5 6 54.5455 CARD10 0 genome.wustl.edu 37 22 37914037 37914037 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 37914037 37914037 G T SNP CARD10 ENST00000251973 human ensembl 74_37 -1 known missense c.314 p.P105H 0.999 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 78 0 0 66 32 32.6531 SOX10 0 genome.wustl.edu 37 22 38369825 38369825 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 38369825 38369825 T C SNP SOX10 ENST00000360880 human ensembl 74_37 -1 known missense c.1078 p.T360A 1.000 NULL pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX10 HGNC ENSG00000100146 50 0 0 42 30 41.6667 TMEM184B 0 genome.wustl.edu 37 22 38621482 38621482 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 38621482 38621482 C T SNP TMEM184B ENST00000361684 human ensembl 74_37 -1 known missense c.736 p.V246I 0.935 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184B HGNC ENSG00000198792 128 0 0 97 43 30.7143 CBX6 0 genome.wustl.edu 37 22 39262317 39262317 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 39262317 39262317 G A SNP CBX6 ENST00000407418 human ensembl 74_37 -1 known missense c.1136 p.T379M 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX6 HGNC ENSG00000183741 82 0 0 64 36 36 SYNGR1 0 genome.wustl.edu 37 22 39772162 39772162 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 39772162 39772162 G A SNP SYNGR1 ENST00000328933 human ensembl 74_37 +1 known missense c.443 p.R148Q 1.000 pfam_Marvel,pirsf_Synaptogyrin pfam_Marvel,pirsf_Synaptogyrin - no_errors SYNGR1 HGNC ENSG00000100321 205 0 0 163 97 37.3077 CACNA1I 0 genome.wustl.edu 37 22 40064344 40064344 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 40064344 40064344 C T SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known silent c.4170 p.N1390 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 50 0 0 45 15 25 EP300 0 genome.wustl.edu 37 22 41574817 41574817 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 41574817 41574817 G A SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.7102 p.D2368N 1.000 NULL 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 EP300 HGNC ENSG00000100393 103 0 0 74 43 36.7521 PPARA 0 genome.wustl.edu 37 22 46611162 46611162 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 46611162 46611162 G A SNP PPARA ENST00000262735 human ensembl 74_37 +1 known missense c.301 p.E101K 0.999 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARA HGNC ENSG00000186951 70 0 0 48 19 28.3582 CELSR1 0 genome.wustl.edu 37 22 46780469 46780469 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 46780469 46780469 G A SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.6854 p.A2285V 0.377 pfam_DUF3497 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 32 0 0 17 9 34.6154 TUBGCP6 0 genome.wustl.edu 37 22 50682331 50682331 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 50682331 50682331 T C SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known silent c.558 p.P186 0.848 NULL pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 57 0 0 49 16 24.6154 PPP6R2 0 genome.wustl.edu 37 22 50869710 50869710 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 50869710 50869710 G A SNP PPP6R2 ENST00000216061 human ensembl 74_37 +1 known missense c.1234 p.G412R 0.001 pfam_SAPS pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC ENSG00000100239 113 0 0 123 62 33.5135 KLHDC7B 0 genome.wustl.edu 37 22 50987578 50987578 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 50987578 50987578 G A SNP KLHDC7B ENST00000395676 human ensembl 74_37 +1 known missense c.983 p.R328Q 0.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 200 0 0 134 79 37.0892 KLHDC7B 0 genome.wustl.edu 37 22 50987635 50987635 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 50987635 50987635 G A SNP KLHDC7B ENST00000395676 human ensembl 74_37 +1 known missense c.1040 p.C347Y 1.000 pfam_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 233 0 0 146 85 36.7965 GPR128 0 genome.wustl.edu 37 3 100413713 100413713 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 100413713 100413713 G A SNP GPR128 ENST00000273352 human ensembl 74_37 +1 known silent c.2262 p.R754 0.001 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR128 HGNC ENSG00000144820 109 0 0 99 53 34.8684 ATP2B2 0 genome.wustl.edu 37 3 10452437 10452437 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 10452437 10452437 G A SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.262 p.P88S 1.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 517 0 0 447 233 34.2647 ALCAM 0 genome.wustl.edu 37 3 105252520 105252520 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 105252520 105252520 A G SNP ALCAM ENST00000306107 human ensembl 74_37 +1 known missense c.533 p.H178R 0.030 pfam_CD80_C2-set,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 97 0 0 81 23 22.1154 CBLB 0 genome.wustl.edu 37 3 105470339 105470339 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 105470339 105470339 A G SNP CBLB ENST00000264122 human ensembl 74_37 -1 known silent c.690 p.V230 0.994 pfam_Adaptor_Cbl_EF_hand-like 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 41 0 0 50 23 31.5068 HHLA2 0 genome.wustl.edu 37 3 108072520 108072520 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 108072520 108072520 C T SNP HHLA2 ENST00000357759 human ensembl 74_37 +1 known missense c.311 p.A104V 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors HHLA2 HGNC ENSG00000114455 69 0 0 45 34 43.038 PVRL3 0 genome.wustl.edu 37 3 110852716 110852716 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 110852716 110852716 G A SNP PVRL3 ENST00000485303 human ensembl 74_37 +1 known missense c.1304 p.R435H 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors PVRL3 HGNC ENSG00000177707 110 0 0 126 84 40 SPICE1 0 genome.wustl.edu 37 3 113179491 113179491 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 113179491 113179491 T A SNP SPICE1 ENST00000295872 human ensembl 74_37 -1 known missense c.1408 p.T470S 0.014 NULL NULL - no_errors SPICE1 HGNC ENSG00000163611 186 0 0 164 69 29.6137 NR1I2 0 genome.wustl.edu 37 3 119531741 119531741 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 119531741 119531741 T C SNP NR1I2 ENST00000337940 human ensembl 74_37 +1 known missense c.845 p.M282T 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd 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,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR1I2 HGNC ENSG00000144852 52 0 0 50 34 40.4762 POLQ 0 genome.wustl.edu 37 3 121206385 121206385 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 121206385 121206385 G T SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.5393 p.P1798H 0.002 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 163 0 0 151 82 35.1931 POLQ 0 genome.wustl.edu 37 3 121260235 121260235 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 121260235 121260235 G T SNP POLQ ENST00000264233 human ensembl 74_37 -1 known silent c.435 p.P145 0.972 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 326 0 0 210 133 38.7755 KALRN 0 genome.wustl.edu 37 3 123813647 123813647 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 123813647 123813647 C T SNP KALRN ENST00000477496 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors KALRN HGNC ENSG00000160145 50 0 0 35 19 35.1852 CCDC37 0 genome.wustl.edu 37 3 126137587 126137587 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 126137587 126137587 A G SNP CCDC37 ENST00000393425 human ensembl 74_37 +1 known missense c.623 p.N208S 1.000 NULL superfamily_SuperAg_toxin_C - no_errors CCDC37 HGNC ENSG00000163885 11 0 0 7 10 58.8235 C3orf22 0 genome.wustl.edu 37 3 126268739 126268739 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 126268739 126268739 G A SNP C3orf22 ENST00000318225 human ensembl 74_37 -1 known missense c.398 p.A133V 0.000 NULL NULL - no_errors C3orf22 HGNC ENSG00000180697 59 0 0 48 29 37.6623 MCM2 0 genome.wustl.edu 37 3 127339714 127339714 + Missense_Mutation SNP C C G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 127339714 127339714 C G SNP MCM2 ENST00000265056 human ensembl 74_37 +1 known missense c.2439 p.S813R 1.000 superfamily_P-loop_NTPase pfam_MCM_DNA-dep_ATPase,pfam_MCM2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM2,prints_MCM_DNA-dep_ATPase - no_errors MCM2 HGNC ENSG00000073111 163 0 0 120 66 35.4839 PIK3R4 0 genome.wustl.edu 37 3 130422668 130422668 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 130422668 130422668 A G SNP PIK3R4 ENST00000356763 human ensembl 74_37 -1 known silent c.2997 p.I999 0.789 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 228 0 0 193 93 32.5175 PIK3R4 0 genome.wustl.edu 37 3 130463961 130463961 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 130463961 130463961 A G SNP PIK3R4 ENST00000356763 human ensembl 74_37 -1 known silent c.102 p.S34 0.998 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 pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 71 0 0 81 45 35.7143 ACPP 0 genome.wustl.edu 37 3 132071668 132071668 + Splice_Site SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 132071668 132071668 G A SNP ACPP ENST00000351273 human ensembl 74_37 +1 known splice_site c.968+1 e9+1 1.000 - - - no_errors ACPP HGNC ENSG00000014257 71 0 0 58 25 30.1205 GRK7 0 genome.wustl.edu 37 3 141497368 141497368 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 141497368 141497368 G A SNP GRK7 ENST00000264952 human ensembl 74_37 +1 known missense c.242 p.R81H 0.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam 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 GRK7 HGNC ENSG00000114124 47 0 0 38 29 43.2836 CPA3 0 genome.wustl.edu 37 3 148597629 148597629 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 148597629 148597629 G A SNP CPA3 ENST00000296046 human ensembl 74_37 +1 known missense c.529 p.A177T 1.000 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA3 HGNC ENSG00000163751 149 0 0 134 75 35.8852 FAM194A 0 genome.wustl.edu 37 3 150421527 150421527 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 150421527 150421527 C T SNP FAM194A ENST00000295910 human ensembl 74_37 -1 known silent c.159 p.E53 0.003 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 18 0 0 35 4 10.2564 FAM194A 0 genome.wustl.edu 37 3 150421613 150421613 + Missense_Mutation SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 150421613 150421613 A C SNP FAM194A ENST00000295910 human ensembl 74_37 -1 known missense c.73 p.L25V 0.000 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 48 0 0 44 18 29.0323 SIAH2 0 genome.wustl.edu 37 3 150460129 150460129 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 150460129 150460129 G A SNP SIAH2 ENST00000312960 human ensembl 74_37 -1 known silent c.774 p.A258 0.029 pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH2 HGNC ENSG00000181788 59 0 0 65 39 37.5 MED12L 0 genome.wustl.edu 37 3 151129094 151129094 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 151129094 151129094 G A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.5834 p.G1945E 0.535 pfam_Mediator_Med12_catenin-bd pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 107 0 0 84 45 34.8837 MME 0 genome.wustl.edu 37 3 154861271 154861271 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 154861271 154861271 C T SNP MME ENST00000360490 human ensembl 74_37 +1 known missense c.1228 p.R410C 0.971 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 170 0 0 127 90 41.4747 ZBBX 0 genome.wustl.edu 37 3 167045770 167045770 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 167045770 167045770 A G SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known silent c.822 p.H274 0.000 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 175 0 0 166 96 36.6412 PRKCI 0 genome.wustl.edu 37 3 170013723 170013723 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 170013723 170013723 T A SNP PRKCI ENST00000295797 human ensembl 74_37 +1 known missense c.1442 p.I481K 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_PKC_zeta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,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_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC ENSG00000163558 79 0 0 130 8 5.7971 GHSR 0 genome.wustl.edu 37 3 172165646 172165646 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 172165646 172165646 G A SNP GHSR ENST00000241256 human ensembl 74_37 -1 known silent c.558 p.H186 0.987 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn - no_errors GHSR HGNC ENSG00000121853 37 0 0 81 9 10 PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.3140 p.H1047R 1.000 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_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 88 0 0 85 61 41.7808 GNB4 0 genome.wustl.edu 37 3 179123026 179123026 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 179123026 179123026 C T SNP GNB4 ENST00000232564 human ensembl 74_37 -1 known missense c.868 p.D290N 1.000 pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB4 HGNC ENSG00000114450 131 0 0 125 65 34.2105 EIF4G1 0 genome.wustl.edu 37 3 184035509 184035509 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 184035509 184035509 G A SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known missense c.350 p.R117H 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 63 0 0 31 22 41.5094 EIF4G1 0 genome.wustl.edu 37 3 184042123 184042123 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 184042123 184042123 T C SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known silent c.2628 p.D876 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 133 0 0 96 67 41.1043 CLCN2 0 genome.wustl.edu 37 3 184071569 184071569 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 184071569 184071569 C T SNP CLCN2 ENST00000265593 human ensembl 74_37 -1 known missense c.1736 p.R579H 1.000 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2 - no_errors CLCN2 HGNC ENSG00000114859 17 0 0 17 5 22.7273 OPA1 0 genome.wustl.edu 37 3 193334982 193334982 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 193334982 193334982 C T SNP OPA1 ENST00000361510 human ensembl 74_37 +1 known missense c.464 p.A155V 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF - no_errors OPA1 HGNC ENSG00000198836 92 0 0 58 22 27.5 CPN2 0 genome.wustl.edu 37 3 194062086 194062086 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 194062086 194062086 C T SNP CPN2 ENST00000323830 human ensembl 74_37 -1 known missense c.1346 p.R449Q 0.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CPN2 HGNC ENSG00000178772 170 0 0 140 64 31.3725 ATP13A3 0 genome.wustl.edu 37 3 194169309 194169309 + Nonsense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 194169309 194169309 C A SNP ATP13A3 ENST00000256031 human ensembl 74_37 -1 known nonsense c.1027 p.G343* 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,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 ATP13A3 HGNC ENSG00000133657 95 0 0 95 44 31.6547 LINC00969 0 genome.wustl.edu 37 3 195404699 195404699 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 195404699 195404699 C T SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors LINC00969 HGNC ENSG00000242086 40 0 0 33 11 25 SDHAP1 0 genome.wustl.edu 37 3 195690161 195690161 + RNA SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 195690161 195690161 A C SNP SDHAP1 ENST00000354559 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SDHAP1 HGNC ENSG00000185485 24 0 0 31 3 8.82353 RNF168 0 genome.wustl.edu 37 3 196199224 196199224 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 196199224 196199224 G T SNP RNF168 ENST00000318037 human ensembl 74_37 -1 known silent c.1182 p.S394 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC ENSG00000163961 183 0 0 188 100 34.7222 MFI2 0 genome.wustl.edu 37 3 196748318 196748318 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 196748318 196748318 G A SNP MFI2 ENST00000296350 human ensembl 74_37 -1 known silent c.669 p.D223 0.204 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors MFI2 HGNC ENSG00000163975 67 0 0 59 33 35.8696 EFHB 0 genome.wustl.edu 37 3 19974823 19974823 + Silent SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 19974823 19974823 T G SNP EFHB ENST00000295824 human ensembl 74_37 -1 known silent c.688 p.R230 0.003 NULL pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHB HGNC ENSG00000163576 112 0 0 101 45 30.8219 THRB 0 genome.wustl.edu 37 3 24185077 24185077 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 24185077 24185077 T C SNP THRB ENST00000356447 human ensembl 74_37 -1 known missense c.653 p.E218G 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_ThyrH_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_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRB HGNC ENSG00000151090 146 0 0 103 76 42.4581 TRANK1 0 genome.wustl.edu 37 3 36873314 36873314 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 36873314 36873314 C T SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.7628 p.R2543H 0.053 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 103 0 0 102 52 33.7662 TRANK1 0 genome.wustl.edu 37 3 36875321 36875321 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 36875321 36875321 T A SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.5621 p.Y1874F 1.000 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 143 0 0 177 60 25.3165 DLEC1 0 genome.wustl.edu 37 3 38139378 38139378 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 38139378 38139378 G T SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.2709 p.Q903H 0.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 76 0 0 53 41 43.617 OXSR1 0 genome.wustl.edu 37 3 38287635 38287635 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 38287635 38287635 C T SNP OXSR1 ENST00000311806 human ensembl 74_37 +1 known nonsense c.1180 p.Q394* 1.000 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors OXSR1 HGNC ENSG00000172939 133 0 0 137 61 30.8081 WDR48 0 genome.wustl.edu 37 3 39107318 39107318 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 39107318 39107318 C T SNP WDR48 ENST00000302313 human ensembl 74_37 +1 known missense c.206 p.A69V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF3337,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 WDR48 HGNC ENSG00000114742 145 0 0 116 71 37.9679 POMGNT2 0 genome.wustl.edu 37 3 43122150 43122150 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 43122150 43122150 G A SNP POMGNT2 ENST00000344697 human ensembl 74_37 -1 known silent c.774 p.L258 0.756 pfam_Glycosyltransferase_AER61 pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3 - no_errors POMGNT2 HGNC ENSG00000144647 140 0 0 129 57 30.6452 TCAIM 0 genome.wustl.edu 37 3 44434453 44434453 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 44434453 44434453 C T SNP TCAIM ENST00000342649 human ensembl 74_37 +1 known nonsense c.679 p.Q227* 0.987 NULL NULL - no_errors TCAIM HGNC ENSG00000179152 124 0 0 104 41 28.2759 ZNF197 0 genome.wustl.edu 37 3 44683855 44683855 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 44683855 44683855 G A SNP ZNF197 ENST00000344387 human ensembl 74_37 +1 known silent c.1233 p.S411 0.211 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF197 HGNC ENSG00000186448 126 0 0 83 60 41.958 ZNF197 0 genome.wustl.edu 37 3 44684845 44684845 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 44684845 44684845 G T SNP ZNF197 ENST00000344387 human ensembl 74_37 +1 known missense c.2223 p.K741N 0.981 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF197 HGNC ENSG00000186448 191 0 0 182 114 38.5135 SMARCC1 0 genome.wustl.edu 37 3 47719787 47719787 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 47719787 47719787 C T SNP SMARCC1 ENST00000254480 human ensembl 74_37 -1 known missense c.1472 p.R491Q 1.000 pfam_SWIRM,superfamily_Homeodomain-like,pfscan_SWIRM pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 153 0 0 139 72 34.1232 DHX30 0 genome.wustl.edu 37 3 47888976 47888976 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 47888976 47888976 G A SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known missense c.2060 p.R687H 0.995 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 30 0 0 28 8 22.2222 COL7A1 0 genome.wustl.edu 37 3 48628108 48628108 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 48628108 48628108 C T SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.1778 p.R593Q 0.004 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 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 67 0 0 59 47 44.3396 COL7A1 0 genome.wustl.edu 37 3 48631901 48631901 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 48631901 48631901 C T SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.166 p.E56K 0.205 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 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 43 0 0 31 23 42.5926 UQCRC1 0 genome.wustl.edu 37 3 48636573 48636573 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 48636573 48636573 C T SNP UQCRC1 ENST00000203407 human ensembl 74_37 -1 known nonsense c.1431 p.W477* 1.000 NULL pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors UQCRC1 HGNC ENSG00000010256 171 0 0 134 78 36.7925 CELSR3 0 genome.wustl.edu 37 3 48677916 48677916 + Silent SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 48677916 48677916 T G SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known silent c.9117 p.A3039 0.997 NULL 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 38 0 0 37 23 38.3333 AMT 0 genome.wustl.edu 37 3 49459855 49459855 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 49459855 49459855 C T SNP AMT ENST00000273588 human ensembl 74_37 -1 known missense c.29 p.R10H 0.157 pirsf_GcvT pfam_GCV_T_N,pfam_GCV_T_C,pirsf_GcvT,tigrfam_GcvT - no_errors AMT HGNC ENSG00000145020 31 0 0 37 22 37.2881 BSN 0 genome.wustl.edu 37 3 49700719 49700719 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 49700719 49700719 C A SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.11128 p.R3710S 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 99 0 0 90 61 40.3974 RNF123 0 genome.wustl.edu 37 3 49736480 49736480 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 49736480 49736480 G A SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known missense c.706 p.A236T 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 146 0 0 126 60 32.2581 FAM212A 0 genome.wustl.edu 37 3 49842011 49842011 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 49842011 49842011 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.455 p.R152Q 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 86 0 0 68 56 45.1613 GNAI2 0 genome.wustl.edu 37 3 50293689 50293689 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 50293689 50293689 G A SNP GNAI2 ENST00000313601 human ensembl 74_37 +1 known missense c.530 p.R177Q 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_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 GNAI2 HGNC ENSG00000114353 81 0 0 72 28 28 LSMEM2 0 genome.wustl.edu 37 3 50316562 50316562 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 50316562 50316562 C T SNP LSMEM2 ENST00000316436 human ensembl 74_37 +1 known silent c.18 p.P6 0.006 NULL NULL - no_errors LSMEM2 HGNC ENSG00000179564 64 0 0 37 24 39.3443 RASSF1 0 genome.wustl.edu 37 3 50374740 50374740 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 50374740 50374740 G A SNP RASSF1 ENST00000327761 human ensembl 74_37 -1 known missense c.11 p.A4V 0.193 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF1 HGNC ENSG00000068028 65 0 0 70 36 33.9623 RAD54L2 0 genome.wustl.edu 37 3 51696633 51696633 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 51696633 51696633 G A SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known missense c.3601 p.A1201T 0.002 NULL pfam_SNF2_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 RAD54L2 HGNC ENSG00000164080 58 0 0 48 23 32.3944 GRM2 0 genome.wustl.edu 37 3 51751698 51751698 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 51751698 51751698 G A SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.2410 p.V804M 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 58 0 0 50 28 35.8974 RRP9 0 genome.wustl.edu 37 3 51970485 51970485 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 51970485 51970485 C T SNP RRP9 ENST00000232888 human ensembl 74_37 -1 known missense c.604 p.V202I 0.006 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 89 0 0 68 36 34.6154 PARP3 0 genome.wustl.edu 37 3 51980202 51980202 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 51980202 51980202 C T SNP PARP3 ENST00000398755 human ensembl 74_37 +1 known silent c.1140 p.H380 0.987 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP3 HGNC ENSG00000041880 97 0 0 71 41 36.6071 GPR62 0 genome.wustl.edu 37 3 51989789 51989789 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 51989789 51989789 C T SNP GPR62 ENST00000322241 human ensembl 74_37 +1 known missense c.121 p.R41C 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR62 HGNC ENSG00000180929 12 0 0 16 7 30.4348 TLR9 0 genome.wustl.edu 37 3 52255388 52255388 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 52255388 52255388 G A SNP TLR9 ENST00000597542 human ensembl 74_37 -1 known missense c.3016 p.R1006W 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom 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 62 0 0 62 41 39.8058 PHF7 0 genome.wustl.edu 37 3 52453868 52453868 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 52453868 52453868 C A SNP PHF7 ENST00000327906 human ensembl 74_37 +1 known missense c.206 p.P69H 0.998 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_RING - no_errors PHF7 HGNC ENSG00000010318 18 0 0 10 9 47.3684 NEK4 0 genome.wustl.edu 37 3 52786250 52786250 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 52786250 52786250 T C SNP NEK4 ENST00000233027 human ensembl 74_37 -1 known missense c.1066 p.T356A 0.001 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 NEK4 HGNC ENSG00000114904 307 0 0 254 123 32.626 CACNA1D 0 genome.wustl.edu 37 3 53806910 53806910 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 53806910 53806910 G A SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known silent c.4155 p.A1385 0.002 pfam_Ion_trans_dom,pfam_PKD1_2_channel 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 64 0 0 48 28 36.8421 WNT5A 0 genome.wustl.edu 37 3 55508419 55508419 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 55508419 55508419 G T SNP WNT5A ENST00000264634 human ensembl 74_37 -1 known silent c.630 p.S210 0.863 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5A HGNC ENSG00000114251 35 0 0 20 15 42.8571 KCTD6 0 genome.wustl.edu 37 3 58486884 58486884 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 58486884 58486884 C T SNP KCTD6 ENST00000355076 human ensembl 74_37 +1 known missense c.239 p.P80L 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD6 HGNC ENSG00000168301 120 0 0 101 64 38.7879 PRICKLE2 0 genome.wustl.edu 37 3 64184458 64184458 + Splice_Site SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 64184458 64184458 A G SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known splice_site c.144+2 e1+2 1.000 - - - no_errors PRICKLE2 HGNC ENSG00000163637 109 0 0 96 35 26.7176 LRIG1 0 genome.wustl.edu 37 3 66455662 66455662 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 66455662 66455662 T C SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known missense c.1120 p.T374A 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,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 LRIG1 HGNC ENSG00000144749 36 0 0 44 15 25.4237 GPR27 0 genome.wustl.edu 37 3 71803853 71803853 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 71803853 71803853 G A SNP GPR27 ENST00000304411 human ensembl 74_37 +1 known missense c.653 p.R218H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR27 HGNC ENSG00000170837 10 0 0 7 4 36.3636 FAM86DP 0 genome.wustl.edu 37 3 75472210 75472210 + RNA SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 75472210 75472210 G A SNP FAM86DP ENST00000459803 human ensembl 74_37 -1 known rna NULL NULL 0.192 - - - no_errors FAM86DP HGNC ENSG00000244026 139 0 0 112 89 44.2786 OR5H1 0 genome.wustl.edu 37 3 97852151 97852151 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 97852151 97852151 G A SNP OR5H1 ENST00000354565 human ensembl 74_37 +1 known missense c.610 p.G204S 0.009 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H1 HGNC ENSG00000231192 66 0 0 60 37 38.1443 CRELD1 0 genome.wustl.edu 37 3 9979713 9979713 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 9979713 9979713 C T SNP CRELD1 ENST00000326434 human ensembl 74_37 +1 known missense c.383 p.P128L 0.999 superfamily_Growth_fac_rcpt_N_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 43 0 0 28 20 41.6667 BANK1 0 genome.wustl.edu 37 4 102951225 102951225 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 102951225 102951225 A G SNP BANK1 ENST00000322953 human ensembl 74_37 +1 known missense c.1703 p.E568G 0.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 82 0 0 74 53 41.7323 TACR3 0 genome.wustl.edu 37 4 104640758 104640758 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 104640758 104640758 G A SNP TACR3 ENST00000304883 human ensembl 74_37 -1 known silent c.75 p.T25 0.006 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 70 0 0 69 35 33.6538 GSTCD 0 genome.wustl.edu 37 4 106755632 106755632 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 106755632 106755632 T C SNP GSTCD ENST00000360505 human ensembl 74_37 +1 known silent c.1545 p.A515 0.963 NULL pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom,superfamily_Glutathione-S-Trfase_C-like - no_errors GSTCD HGNC ENSG00000138780 198 0 0 152 80 34.4828 C4orf21 0 genome.wustl.edu 37 4 113539998 113539998 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 113539998 113539998 C A SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known missense c.1200 p.Q400H 0.001 NULL pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 102 0 0 96 55 36.4238 SPON2 0 genome.wustl.edu 37 4 1165270 1165270 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 1165270 1165270 G A SNP SPON2 ENST00000290902 human ensembl 74_37 -1 known silent c.225 p.A75 0.040 pfam_Spondin_N,pfscan_Spondin_N pfam_Spondin_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Spondin_N,pfscan_Thrombospondin_1_rpt - no_errors SPON2 HGNC ENSG00000159674 39 0 0 29 22 43.1373 PDE5A 0 genome.wustl.edu 37 4 120427073 120427073 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 120427073 120427073 A G SNP PDE5A ENST00000354960 human ensembl 74_37 -1 known missense c.2204 p.F735S 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC ENSG00000138735 22 0 0 37 14 27.451 TNIP3 0 genome.wustl.edu 37 4 122075732 122075732 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 122075732 122075732 C T SNP TNIP3 ENST00000057513 human ensembl 74_37 -1 known missense c.466 p.E156K 0.973 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 143 0 0 125 73 36.8687 TMEM155 0 genome.wustl.edu 37 4 122682762 122682762 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 122682762 122682762 G A SNP TMEM155 ENST00000337677 human ensembl 74_37 -1 known missense c.143 p.A48V 1.000 NULL NULL - no_errors TMEM155 HGNC ENSG00000164112 93 0 0 82 41 33.3333 TRPC3 0 genome.wustl.edu 37 4 122853842 122853842 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 122853842 122853842 C T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known missense c.571 p.V191I 1.000 superfamily_Ankyrin_rpt-contain_dom,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 35 0 0 47 26 35.6164 FAT4 0 genome.wustl.edu 37 4 126239277 126239277 + Missense_Mutation SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 126239277 126239277 A C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.1711 p.T571P 0.081 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 93 0 0 68 33 32.6733 FAT4 0 genome.wustl.edu 37 4 126373095 126373095 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 126373095 126373095 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.10924 p.D3642N 1.000 superfamily_Cadherin-like 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 98 0 0 105 44 29.5302 PCDH10 0 genome.wustl.edu 37 4 134072897 134072897 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 134072897 134072897 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.1602 p.E534 1.000 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 PCDH10 HGNC ENSG00000138650 120 0 0 136 58 29.8969 BOD1L1 0 genome.wustl.edu 37 4 13605418 13605418 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 13605418 13605418 C T SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.3106 p.D1036N 1.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 256 0 0 208 104 33.3333 MAML3 0 genome.wustl.edu 37 4 140641268 140641268 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 140641268 140641268 T C SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known missense c.2626 p.T876A 0.998 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 495 0 0 503 157 23.7879 ANAPC10 0 genome.wustl.edu 37 4 145916687 145916687 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 145916687 145916687 A G SNP ANAPC10 ENST00000309439 human ensembl 74_37 -1 known silent c.396 p.T132 0.991 pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,pirsf_APC_su10 pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,pirsf_APC_su10 - no_errors ANAPC10 HGNC ENSG00000164162 132 0 0 152 51 25.1232 OTUD4 0 genome.wustl.edu 37 4 146072045 146072045 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 146072045 146072045 C A SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known missense c.981 p.K327N 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 40 0 0 30 21 41.1765 CPEB2 0 genome.wustl.edu 37 4 15055827 15055827 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 15055827 15055827 A G SNP CPEB2 ENST00000538197 human ensembl 74_37 +1 known missense c.2447 p.Y816C 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 114 0 0 104 62 37.3494 FHDC1 0 genome.wustl.edu 37 4 153897218 153897218 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 153897218 153897218 G T SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known silent c.2775 p.R925 0.157 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 51 0 0 40 19 32.2034 TLR2 0 genome.wustl.edu 37 4 154625490 154625490 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 154625490 154625490 G A SNP TLR2 ENST00000260010 human ensembl 74_37 +1 known silent c.1431 p.P477 0.001 pirsf_Toll-like_receptor,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 182 0 0 153 89 36.7769 ZNF718 0 genome.wustl.edu 37 4 155138 155138 + RNA SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 155138 155138 T C SNP ZNF718 ENST00000400172 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF718 HGNC ENSG00000250312 36 0 0 47 19 28.7879 GRIA2 0 genome.wustl.edu 37 4 158282733 158282733 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 158282733 158282733 G A SNP GRIA2 ENST00000296526 human ensembl 74_37 +1 known missense c.2335 p.V779I 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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 GRIA2 HGNC ENSG00000120251 83 0 0 71 42 37.1681 KLHL2 0 genome.wustl.edu 37 4 166218824 166218824 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 166218824 166218824 C T SNP KLHL2 ENST00000226725 human ensembl 74_37 +1 known nonsense c.718 p.R240* 1.000 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 KLHL2 HGNC ENSG00000109466 70 0 0 67 33 33 SPCS3 0 genome.wustl.edu 37 4 177241279 177241279 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 177241279 177241279 G A SNP SPCS3 ENST00000503362 human ensembl 74_37 +1 known missense c.52 p.V18M 1.000 pfam_SPC22,pirsf_SPC22 pfam_SPC22,pirsf_SPC22 - no_errors SPCS3 HGNC ENSG00000129128 169 0 0 143 86 37.5546 TENM3 0 genome.wustl.edu 37 4 183664526 183664526 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 183664526 183664526 C T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.3583 p.R1195W 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 81 0 0 78 42 35 TENM3 0 genome.wustl.edu 37 4 183696226 183696226 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 183696226 183696226 A G SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.5224 p.N1742D 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 73 0 0 73 38 34.2342 TRAPPC11 0 genome.wustl.edu 37 4 184614802 184614802 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 184614802 184614802 T C SNP TRAPPC11 ENST00000334690 human ensembl 74_37 +1 known silent c.2298 p.T766 0.720 NULL pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 194 0 0 203 106 34.3042 PDLIM3 0 genome.wustl.edu 37 4 186423511 186423511 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 186423511 186423511 G A SNP PDLIM3 ENST00000284770 human ensembl 74_37 -1 known silent c.1032 p.H344 0.993 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM3 HGNC ENSG00000154553 191 0 0 139 110 44.1767 FAT1 0 genome.wustl.edu 37 4 187530973 187530973 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 187530973 187530973 A G SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.10050 p.L3350 0.011 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 47 0 0 42 17 28.8136 NELFA 0 genome.wustl.edu 37 4 1993312 1993312 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 1993312 1993312 T G SNP NELFA ENST00000382882 human ensembl 74_37 -1 known missense c.374 p.N125T 1.000 NULL NULL - no_errors NELFA HGNC ENSG00000185049 156 0 0 145 60 29.2683 SLIT2 0 genome.wustl.edu 37 4 20490474 20490474 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 20490474 20490474 G A SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.644 p.C215Y 1.000 smart_Cys-rich_flank_reg_C pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 419 0 0 333 162 32.7273 PI4K2B 0 genome.wustl.edu 37 4 25270149 25270149 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 25270149 25270149 A G SNP PI4K2B ENST00000264864 human ensembl 74_37 +1 known missense c.1163 p.D388G 1.000 pfam_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom - no_errors PI4K2B HGNC ENSG00000038210 40 0 0 43 16 27.1186 STIM2 0 genome.wustl.edu 37 4 27024487 27024487 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 27024487 27024487 G A SNP STIM2 ENST00000382009 human ensembl 74_37 +1 known missense c.2395 p.D799N 0.997 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM - no_errors STIM2 HGNC ENSG00000109689 108 0 0 77 52 40.3101 SH3BP2 0 genome.wustl.edu 37 4 2831297 2831297 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 2831297 2831297 C A SNP SH3BP2 ENST00000503393 human ensembl 74_37 +1 known silent c.835 p.R279 0.534 NULL pfam_Pleckstrin_homology,pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors SH3BP2 HGNC ENSG00000087266 145 0 0 104 71 40.5714 RGS12 0 genome.wustl.edu 37 4 3318198 3318198 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 3318198 3318198 C T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.301 p.R101C 0.008 superfamily_PDZ pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 101 0 0 92 60 39.4737 RGS12 0 genome.wustl.edu 37 4 3425305 3425305 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 3425305 3425305 G A SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known silent c.3171 p.T1057 0.240 pfam_Raf-like_ras-bd,smart_Raf-like_ras-bd,pfscan_Raf-like_ras-bd pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 66 0 0 64 32 33.3333 HGFAC 0 genome.wustl.edu 37 4 3444812 3444812 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 3444812 3444812 T C SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known missense c.334 p.F112L 1.000 pirsf_Coagulation_fac_XIIa/HGFA,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 21 0 0 30 3 9.09091 DOK7 0 genome.wustl.edu 37 4 3494914 3494914 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 3494914 3494914 C A SNP DOK7 ENST00000389653 human ensembl 74_37 +1 known missense c.1201 p.L401M 0.000 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK7 HGNC ENSG00000175920 17 0 0 25 10 28.5714 N4BP2 0 genome.wustl.edu 37 4 40108561 40108561 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 40108561 40108561 C T SNP N4BP2 ENST00000261435 human ensembl 74_37 +1 known missense c.1415 p.T472I 1.000 superfamily_P-loop_NTPase 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 67 0 0 71 37 34.2593 LIMCH1 0 genome.wustl.edu 37 4 41607973 41607973 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 41607973 41607973 G A SNP LIMCH1 ENST00000313860 human ensembl 74_37 +1 known silent c.438 p.T146 0.025 superfamily_CH-domain pfam_CH-domain,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_SM22_calponin,prints_Calponin - no_errors LIMCH1 HGNC ENSG00000064042 45 0 0 52 17 24.6377 TMEM128 0 genome.wustl.edu 37 4 4239591 4239591 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 4239591 4239591 A G SNP TMEM128 ENST00000382753 human ensembl 74_37 -1 known missense c.470 p.V157A 0.568 NULL NULL - no_errors TMEM128 HGNC ENSG00000132406 28 0 0 37 13 26 GUF1 0 genome.wustl.edu 37 4 44699434 44699434 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 44699434 44699434 C T SNP GUF1 ENST00000281543 human ensembl 74_37 +1 known silent c.1845 p.A615 1.000 pfam_LepA_GTP-bd_C,tigrfam_EF-4 pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_P-loop_NTPase,superfamily_EFG_III-V,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom - no_errors GUF1 HGNC ENSG00000151806 73 0 0 63 26 29.2135 FRYL 0 genome.wustl.edu 37 4 48622719 48622719 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 48622719 48622719 C T SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.251 p.R84H 1.000 NULL superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 178 0 0 144 90 38.4615 CYTL1 0 genome.wustl.edu 37 4 5021035 5021035 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 5021035 5021035 C A SNP CYTL1 ENST00000307746 human ensembl 74_37 -1 known missense c.138 p.Q46H 0.906 NULL NULL - no_errors CYTL1 HGNC ENSG00000170891 27 0 0 39 18 31.5789 SPATA18 0 genome.wustl.edu 37 4 52943136 52943136 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 52943136 52943136 C T SNP SPATA18 ENST00000295213 human ensembl 74_37 +1 known missense c.950 p.A317V 0.999 NULL NULL - no_errors SPATA18 HGNC ENSG00000163071 33 0 0 26 17 39.5349 FIP1L1 0 genome.wustl.edu 37 4 54325484 54325484 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 54325484 54325484 C T SNP FIP1L1 ENST00000337488 human ensembl 74_37 +1 known silent c.1653 p.R551 0.997 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 40 0 0 25 14 35.8974 MAN2B2 0 genome.wustl.edu 37 4 6621751 6621751 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 6621751 6621751 C T SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known missense c.2912 p.T971M 0.973 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 27 0 0 28 12 30 CDKL2 0 genome.wustl.edu 37 4 76522205 76522205 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 76522205 76522205 A G SNP CDKL2 ENST00000429927 human ensembl 74_37 -1 known silent c.1236 p.I412 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 CDKL2 HGNC ENSG00000138769 250 0 0 191 134 41.2308 SHROOM3 0 genome.wustl.edu 37 4 77662420 77662420 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 77662420 77662420 G A SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.3094 p.V1032M 0.000 pfam_ASD1 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 28 0 0 39 29 42.6471 ABLIM2 0 genome.wustl.edu 37 4 7985021 7985021 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 7985021 7985021 C T SNP ABLIM2 ENST00000447017 human ensembl 74_37 -1 known silent c.1794 p.L598 1.000 superfamily_Villin_headpiece,pfscan_Villin_headpiece pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 16 0 0 15 7 31.8182 PRDM8 0 genome.wustl.edu 37 4 81124490 81124490 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 81124490 81124490 A G SNP PRDM8 ENST00000339711 human ensembl 74_37 +1 known missense c.1874 p.N625S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM8 HGNC ENSG00000152784 36 0 0 24 4 14.2857 SEC31A 0 genome.wustl.edu 37 4 83770124 83770124 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 83770124 83770124 T A SNP SEC31A ENST00000432794 human ensembl 74_37 -1 known missense c.2335 p.I779F 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 141 0 0 155 69 30.8036 PLAC8 0 genome.wustl.edu 37 4 84015872 84015872 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 84015872 84015872 T C SNP PLAC8 ENST00000311507 human ensembl 74_37 -1 known missense c.316 p.I106V 1.000 tigrfam_Uncharacterised_Cys-rich pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich - no_errors PLAC8 HGNC ENSG00000145287 66 0 0 81 31 27.6786 FAM175A 0 genome.wustl.edu 37 4 84383916 84383916 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 84383916 84383916 G T SNP FAM175A ENST00000321945 human ensembl 74_37 -1 known missense c.936 p.N312K 0.000 NULL prints_FAM175_BRCA1-A_cplx_Abraxas_su,prints_FAM175,prints_FAM175_BRISC_cplx_Abro1_su - no_errors FAM175A HGNC ENSG00000163322 108 0 0 157 11 6.54762 SPP1 0 genome.wustl.edu 37 4 88902839 88902839 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 88902839 88902839 C T SNP SPP1 ENST00000395080 human ensembl 74_37 +1 known silent c.429 p.T143 0.000 pfam_Osteopontin,smart_Osteopontin pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin - no_errors SPP1 HGNC ENSG00000118785 156 0 0 156 80 33.8983 ABCG2 0 genome.wustl.edu 37 4 89052253 89052253 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 89052253 89052253 A G SNP ABCG2 ENST00000237612 human ensembl 74_37 -1 known missense c.491 p.V164A 0.999 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG2 HGNC ENSG00000118777 249 0 0 214 102 32.2785 GRID2 0 genome.wustl.edu 37 4 94316827 94316827 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 94316827 94316827 C T SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.1315 p.R439C 1.000 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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 GRID2 HGNC ENSG00000152208 150 0 0 171 86 33.463 TMEM175 0 genome.wustl.edu 37 4 951976 951976 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 951976 951976 G A SNP TMEM175 ENST00000264771 human ensembl 74_37 +1 known missense c.1207 p.E403K 0.992 NULL pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 35 0 0 43 14 24.5614 TMEM175 0 genome.wustl.edu 37 4 952157 952157 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 952157 952157 G A SNP TMEM175 ENST00000264771 human ensembl 74_37 +1 known missense c.1388 p.R463H 1.000 NULL pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 44 0 0 48 19 28.3582 DRD5 0 genome.wustl.edu 37 4 9783796 9783796 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 9783796 9783796 C T SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known missense c.143 p.T48I 0.997 prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 24 0 0 26 8 23.5294 ST8SIA4 0 genome.wustl.edu 37 5 100191913 100191913 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 100191913 100191913 T C SNP ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known missense c.691 p.K231E 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 219 1 0.454545 179 106 37.193 SLCO6A1 0 genome.wustl.edu 37 5 101834428 101834428 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 101834428 101834428 A G SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.121 p.S41P 0.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 351 0 0 383 131 25.4864 GIN1 0 genome.wustl.edu 37 5 102423850 102423850 + Missense_Mutation SNP C C G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 102423850 102423850 C G SNP GIN1 ENST00000399004 human ensembl 74_37 -1 known missense c.1321 p.V441L 0.961 NULL pfam_Integrase_cat-core,pfam_Znf_H2C2_histone_UAS-bd,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors GIN1 HGNC ENSG00000145723 128 0 0 102 59 36.646 PPIP5K2 0 genome.wustl.edu 37 5 102519007 102519007 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 102519007 102519007 A G SNP PPIP5K2 ENST00000358359 human ensembl 74_37 +1 known missense c.2995 p.T999A 1.000 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 97 0 0 107 54 33.5404 FER 0 genome.wustl.edu 37 5 108294945 108294945 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 108294945 108294945 G A SNP FER ENST00000281092 human ensembl 74_37 +1 known missense c.1553 p.G518D 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_SH2,smart_SH2,pfscan_SH2 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FER HGNC ENSG00000151422 84 0 0 103 33 24.2647 CTNND2 0 genome.wustl.edu 37 5 11159846 11159846 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 11159846 11159846 G A SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known silent c.2001 p.C667 0.870 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 118 0 0 93 45 32.6087 APC 0 genome.wustl.edu 37 5 112178834 112178834 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 112178834 112178834 A G SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.7543 p.I2515V 0.546 pfam_APC_basic_dom pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 122 0 0 125 50 28.5714 ADAMTS19 0 genome.wustl.edu 37 5 128977572 128977572 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 128977572 128977572 A G SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known silent c.1773 p.L591 0.444 smart_ADAM_Cys-rich pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 99 0 0 89 42 32.0611 RAPGEF6 0 genome.wustl.edu 37 5 130897705 130897705 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 130897705 130897705 T C SNP RAPGEF6 ENST00000509018 human ensembl 74_37 -1 known missense c.317 p.D106G 1.000 superfamily_cNMP-bd-like pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 121 0 0 93 60 39.2157 AFF4 0 genome.wustl.edu 37 5 132216839 132216839 + Missense_Mutation SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 132216839 132216839 A C SNP AFF4 ENST00000265343 human ensembl 74_37 -1 known missense c.3404 p.I1135S 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 74 0 0 51 30 37.037 PHF15 0 genome.wustl.edu 37 5 133914438 133914438 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 133914438 133914438 G A SNP PHF15 ENST00000395003 human ensembl 74_37 +1 known missense c.1804 p.A602T 0.005 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 54 0 0 39 37 48.6842 DNAH5 0 genome.wustl.edu 37 5 13876895 13876895 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 13876895 13876895 G T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.3294 p.P1098 0.958 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 84 0 0 82 37 31.0924 DND1 0 genome.wustl.edu 37 5 140052333 140052333 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 140052333 140052333 C T SNP DND1 ENST00000542735 human ensembl 74_37 -1 known missense c.301 p.A101T 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DND1 HGNC ENSG00000256453 21 0 0 14 9 39.1304 PCDHA1 0 genome.wustl.edu 37 5 140167327 140167327 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 140167327 140167327 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known silent c.1452 p.A484 0.933 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 PCDHA1 HGNC ENSG00000204970 139 1 0.714286 148 79 34.8018 PCDHA8 0 genome.wustl.edu 37 5 140222665 140222665 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 140222665 140222665 G A SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.1759 p.A587T 0.795 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 47 0 0 16 66 80.4878 PCDHA8 0 genome.wustl.edu 37 5 140223022 140223022 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 140223022 140223022 G A SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.2116 p.A706T 0.831 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 60 0 0 20 74 78.7234 PCDHA11 0 genome.wustl.edu 37 5 140249146 140249146 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 140249146 140249146 C A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.458 p.P153Q 0.999 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 221 0 0 195 125 39.0625 PCDHA12 0 genome.wustl.edu 37 5 140256640 140256640 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 140256640 140256640 T C SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.1583 p.L528P 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 PCDHA12 HGNC ENSG00000251664 158 0 0 221 62 21.9081 PCDHA12 0 genome.wustl.edu 37 5 140256803 140256803 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 140256803 140256803 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.1746 p.P582 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 130 0 0 164 86 34.4 PCDHB7 0 genome.wustl.edu 37 5 140554460 140554460 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 140554460 140554460 A G SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.2044 p.N682D 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 230 0 0 308 73 19.1601 PCDHB7 0 genome.wustl.edu 37 5 140554465 140554465 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 140554465 140554465 G T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known silent c.2049 p.S683 0.172 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 239 1 0.416667 333 78 18.9781 PCDHB7 0 genome.wustl.edu 37 5 140554522 140554522 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 140554522 140554522 G A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known silent c.2106 p.S702 0.230 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 426 0 0 518 110 17.5159 PCDHB8 0 genome.wustl.edu 37 5 140559519 140559519 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 140559519 140559519 A G SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.1904 p.D635G 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 PCDHB8 HGNC ENSG00000120322 116 0 0 133 57 30 PCDHB11 0 genome.wustl.edu 37 5 140581561 140581561 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 140581561 140581561 C T SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known silent c.2214 p.D738 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 207 0 0 195 116 37.299 PCDHB14 0 genome.wustl.edu 37 5 140605248 140605248 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 140605248 140605248 G A SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.2171 p.R724H 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 233 0 0 211 143 40.3955 PCDHGA6 0 genome.wustl.edu 37 5 140755541 140755541 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 140755541 140755541 G A SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known missense c.1891 p.A631T 0.000 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 PCDHGA6 HGNC ENSG00000253731 96 0 0 84 76 47.5 PCDHGB6 0 genome.wustl.edu 37 5 140788117 140788117 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 140788117 140788117 T C SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known silent c.348 p.I116 0.014 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 182 0 0 164 86 34.4 PCDHGC3 0 genome.wustl.edu 37 5 140857618 140857618 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 140857618 140857618 G A SNP PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known silent c.1935 p.T645 0.049 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 PCDHGC3 HGNC ENSG00000240184 126 0 0 111 69 38.3333 FCHSD1 0 genome.wustl.edu 37 5 141019878 141019878 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 141019878 141019878 C T SNP FCHSD1 ENST00000523856 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors FCHSD1 HGNC ENSG00000197948 108 0 0 54 43 44.3299 PCDH12 0 genome.wustl.edu 37 5 141331071 141331071 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 141331071 141331071 G T SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known missense c.2965 p.P989T 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 76 0 0 66 29 30.5263 TRIO 0 genome.wustl.edu 37 5 14378154 14378154 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 14378154 14378154 G T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.3365 p.R1122M 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 25 0 0 34 9 20.9302 TRIO 0 genome.wustl.edu 37 5 14498693 14498693 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 14498693 14498693 G A SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.8276 p.C2759Y 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 141 1 0.704225 112 71 38.7978 POU4F3 0 genome.wustl.edu 37 5 145719546 145719546 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 145719546 145719546 G A SNP POU4F3 ENST00000230732 human ensembl 74_37 +1 known missense c.556 p.E186K 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F3 HGNC ENSG00000091010 57 0 0 72 46 38.9831 STK32A 0 genome.wustl.edu 37 5 146750335 146750335 + Splice_Site SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 146750335 146750335 T C SNP STK32A ENST00000397936 human ensembl 74_37 +1 known splice_site c.777+2 e8+2 1.000 - - - no_errors STK32A HGNC ENSG00000169302 128 0 0 108 76 41.3043 NDST1 0 genome.wustl.edu 37 5 149907475 149907475 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 149907475 149907475 A G SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known missense c.623 p.Y208C 0.997 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 46 0 0 40 31 43.662 SYNPO 0 genome.wustl.edu 37 5 150029196 150029196 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 150029196 150029196 C A SNP SYNPO ENST00000394243 human ensembl 74_37 +1 known silent c.2091 p.A697 0.872 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 29 0 0 31 9 22.5 SLC36A2 0 genome.wustl.edu 37 5 150696535 150696535 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 150696535 150696535 T C SNP SLC36A2 ENST00000335244 human ensembl 74_37 -1 known missense c.1295 p.Y432C 0.994 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A2 HGNC ENSG00000186335 71 0 0 46 27 36.9863 FAT2 0 genome.wustl.edu 37 5 150948143 150948143 + Missense_Mutation SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 150948143 150948143 A C SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.350 p.L117R 0.998 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 191 0 0 151 59 28.0952 GABRG2 0 genome.wustl.edu 37 5 161522524 161522524 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 161522524 161522524 G A SNP GABRG2 ENST00000356592 human ensembl 74_37 +1 known missense c.283 p.D95N 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,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_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 57 0 0 45 17 27.4194 MAT2B 0 genome.wustl.edu 37 5 162945415 162945415 + RNA SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 162945415 162945415 T C SNP MAT2B ENST00000521838 human ensembl 74_37 +1 known rna NULL NULL 0.264 - - - no_errors MAT2B HGNC ENSG00000038274 57 0 0 48 23 32.3944 FBLL1 0 genome.wustl.edu 37 5 167957476 167957476 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 167957476 167957476 G A SNP FBLL1 ENST00000338333 human ensembl 74_37 +1 putative missense c.967 p.G323R 1.000 pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBLL1 HGNC ENSG00000188573 12 0 0 10 9 47.3684 TLX3 0 genome.wustl.edu 37 5 170736470 170736470 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 170736470 170736470 C T SNP TLX3 ENST00000296921 human ensembl 74_37 +1 known missense c.101 p.A34V 0.998 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors TLX3 HGNC ENSG00000164438 17 0 0 20 6 23.0769 STC2 0 genome.wustl.edu 37 5 172750372 172750372 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 172750372 172750372 C T SNP STC2 ENST00000265087 human ensembl 74_37 -1 known missense c.356 p.G119D 1.000 pfam_Stanniocalcin pfam_Stanniocalcin - no_errors STC2 HGNC ENSG00000113739 27 0 0 35 22 38.5965 FAF2 0 genome.wustl.edu 37 5 175923649 175923649 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 175923649 175923649 C T SNP FAF2 ENST00000261942 human ensembl 74_37 +1 known missense c.824 p.S275L 1.000 NULL pfam_UBX,superfamily_UBA-like,smart_UAS,pfscan_UBX - no_errors FAF2 HGNC ENSG00000113194 96 0 0 106 51 32.4841 NSD1 0 genome.wustl.edu 37 5 176638979 176638979 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 176638979 176638979 T C SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known silent c.3579 p.S1193 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,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 NSD1 HGNC ENSG00000165671 76 0 0 80 32 28.5714 PDLIM7 0 genome.wustl.edu 37 5 176919648 176919648 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 176919648 176919648 C T SNP PDLIM7 ENST00000355841 human ensembl 74_37 -1 known missense c.127 p.G43R 0.940 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM7 HGNC ENSG00000196923 99 0 0 78 40 33.8983 ZNF354A 0 genome.wustl.edu 37 5 178152390 178152390 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 178152390 178152390 G A SNP ZNF354A ENST00000335815 human ensembl 74_37 -1 known silent c.243 p.G81 0.002 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 ZNF354A HGNC ENSG00000169131 218 0 0 195 122 38.4858 TBC1D9B 0 genome.wustl.edu 37 5 179321503 179321503 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 179321503 179321503 C T SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known missense c.460 p.E154K 1.000 pfam_GRAM,smart_GRAM 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 TBC1D9B HGNC ENSG00000197226 101 0 0 84 18 17.6471 FLT4 0 genome.wustl.edu 37 5 180057235 180057235 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 180057235 180057235 G A SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.503 p.T168M 1.000 prints_VEGFR3_rcpt 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 81 0 0 54 27 33.3333 BTNL8 0 genome.wustl.edu 37 5 180338563 180338563 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 180338563 180338563 A G SNP BTNL8 ENST00000340184 human ensembl 74_37 +1 known missense c.622 p.M208V 0.043 smart_Ig_sub,pfscan_Ig-like_dom pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTNL8 HGNC ENSG00000113303 100 0 0 80 47 37.0079 PRDM9 0 genome.wustl.edu 37 5 23527575 23527575 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 23527575 23527575 G A SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.2378 p.S793N 0.000 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 237 0 0 221 86 28.013 DROSHA 0 genome.wustl.edu 37 5 31449427 31449427 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 31449427 31449427 C T SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known missense c.2782 p.G928R 1.000 superfamily_RNase_III_dom,pfscan_RNase_III_dom pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 41 0 0 28 13 31.7073 C5orf22 0 genome.wustl.edu 37 5 31553019 31553019 + RNA SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 31553019 31553019 A G SNP C5orf22 ENST00000504866 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C5orf22 HGNC ENSG00000082213 89 0 0 81 30 27.027 PDZD2 0 genome.wustl.edu 37 5 31983706 31983706 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 31983706 31983706 C T SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.922 p.R308C 0.820 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 218 0 0 155 115 42.5926 PDZD2 0 genome.wustl.edu 37 5 32090776 32090776 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 32090776 32090776 G A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.7222 p.G2408S 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 65 0 0 59 25 29.7619 TARS 0 genome.wustl.edu 37 5 33467736 33467736 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 33467736 33467736 C T SNP TARS ENST00000265112 human ensembl 74_37 +1 known missense c.2095 p.R699C 0.999 pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC ENSG00000113407 59 0 0 90 6 6.25 PLCXD3 0 genome.wustl.edu 37 5 41382376 41382376 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 41382376 41382376 T C SNP PLCXD3 ENST00000328457 human ensembl 74_37 -1 known missense c.364 p.N122D 1.000 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 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 - no_errors PLCXD3 HGNC ENSG00000182836 161 0 0 134 116 46.4 NNT 0 genome.wustl.edu 37 5 43659315 43659315 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 43659315 43659315 G A SNP NNT ENST00000264663 human ensembl 74_37 +1 known missense c.2497 p.V833I 0.999 pfam_NADH_DH_b pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 248 1 0.401606 202 104 33.9869 SLC9A3 0 genome.wustl.edu 37 5 475020 475020 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 475020 475020 C T SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known missense c.2479 p.A827T 0.000 NULL pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 20 0 0 4 13 76.4706 PARP8 0 genome.wustl.edu 37 5 50057724 50057724 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 50057724 50057724 G A SNP PARP8 ENST00000281631 human ensembl 74_37 +1 known missense c.415 p.G139R 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 105 0 0 84 43 33.8583 ADAMTS16 0 genome.wustl.edu 37 5 5146476 5146476 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 5146476 5146476 C T SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known nonsense c.409 p.Q137* 0.997 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 232 0 0 193 90 31.8021 DHX29 0 genome.wustl.edu 37 5 54579187 54579187 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 54579187 54579187 A G SNP DHX29 ENST00000251636 human ensembl 74_37 -1 known silent c.1809 p.T603 0.998 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 196 0 0 170 63 27.0386 ATP6AP1L 0 genome.wustl.edu 37 5 81613882 81613882 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 81613882 81613882 G A SNP ATP6AP1L ENST00000380167 human ensembl 74_37 +1 known silent c.438 p.S146 0.000 NULL NULL - no_errors ATP6AP1L HGNC ENSG00000205464 93 0 0 91 50 35.461 POLR3G 0 genome.wustl.edu 37 5 89783832 89783832 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 89783832 89783832 C T SNP POLR3G ENST00000399107 human ensembl 74_37 +1 known missense c.133 p.P45S 1.000 pfam_RNA_pol_III_Rpc31 pfam_RNA_pol_III_Rpc31 - no_errors POLR3G HGNC ENSG00000113356 90 0 0 82 40 32.7869 ERAP2 0 genome.wustl.edu 37 5 96253217 96253217 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 96253217 96253217 T C SNP ERAP2 ENST00000437043 human ensembl 74_37 +1 known missense c.2791 p.F931L 0.906 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP2 HGNC ENSG00000164308 137 0 0 123 77 38.5 LNPEP 0 genome.wustl.edu 37 5 96362455 96362455 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 96362455 96362455 T C SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known missense c.2858 p.V953A 0.999 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 179 0 0 135 79 36.9159 FOXO3 0 genome.wustl.edu 37 6 108984970 108984970 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 108984970 108984970 C T SNP FOXO3 ENST00000343882 human ensembl 74_37 +1 known missense c.934 p.R312C 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO3 HGNC ENSG00000118689 38 0 0 34 21 38.1818 MICAL1 0 genome.wustl.edu 37 6 109771647 109771647 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 109771647 109771647 T C SNP MICAL1 ENST00000368952 human ensembl 74_37 -1 known silent c.1104 p.L368 0.965 NULL pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 78 0 0 81 5 5.81395 GPR6 0 genome.wustl.edu 37 6 110300985 110300985 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 110300985 110300985 C T SNP GPR6 ENST00000414000 human ensembl 74_37 +1 known missense c.715 p.R239C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR6,prints_GPR_3/6/12_orphan,prints_GPCR_Rhodpsn - no_errors GPR6 HGNC ENSG00000146360 17 0 0 17 11 39.2857 AMD1 0 genome.wustl.edu 37 6 111210137 111210137 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 111210137 111210137 T C SNP AMD1 ENST00000368885 human ensembl 74_37 +1 known missense c.275 p.V92A 1.000 pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr - no_errors AMD1 HGNC ENSG00000123505 104 0 0 98 43 30.4965 GPRC6A 0 genome.wustl.edu 37 6 117114050 117114050 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 117114050 117114050 G A SNP GPRC6A ENST00000310357 human ensembl 74_37 -1 known missense c.2036 p.T679M 0.008 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 75 0 0 84 36 30 ROS1 0 genome.wustl.edu 37 6 117710733 117710733 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 117710733 117710733 A G SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known silent c.1539 p.D513 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 104 0 0 61 36 37.1134 GOPC 0 genome.wustl.edu 37 6 117923425 117923425 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 117923425 117923425 T C SNP GOPC ENST00000368498 human ensembl 74_37 -1 known silent c.27 p.A9 0.991 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GOPC HGNC ENSG00000047932 17 0 0 15 11 42.3077 GJA1 0 genome.wustl.edu 37 6 121768887 121768887 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 121768887 121768887 C T SNP GJA1 ENST00000282561 human ensembl 74_37 +1 known silent c.894 p.C298 1.000 pfam_Connexin43_C,prints_Connexin43 pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 120 0 0 85 48 36.0902 TPD52L1 0 genome.wustl.edu 37 6 125541281 125541281 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 125541281 125541281 A G SNP TPD52L1 ENST00000534000 human ensembl 74_37 +1 known missense c.77 p.D26G 1.000 pfam_TPD52 pfam_TPD52 - no_errors TPD52L1 HGNC ENSG00000111907 86 0 0 73 35 32.4074 LAMA2 0 genome.wustl.edu 37 6 129636721 129636721 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 129636721 129636721 C T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.3656 p.A1219V 0.998 pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,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 LAMA2 HGNC ENSG00000196569 146 0 0 124 66 34.7368 MED23 0 genome.wustl.edu 37 6 131919553 131919553 + Silent SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 131919553 131919553 T G SNP MED23 ENST00000368058 human ensembl 74_37 -1 known silent c.2499 p.A833 0.990 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 67 0 0 47 38 44.7059 GFOD1 0 genome.wustl.edu 37 6 13365589 13365589 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 13365589 13365589 G T SNP GFOD1 ENST00000379287 human ensembl 74_37 -1 known missense c.559 p.L187I 1.000 pfam_OxRdtase_C pfam_Oxidoreductase_N,pfam_OxRdtase_C - no_errors GFOD1 HGNC ENSG00000145990 39 0 0 42 23 35.3846 TCF21 0 genome.wustl.edu 37 6 134210668 134210668 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 134210668 134210668 G A SNP TCF21 ENST00000237316 human ensembl 74_37 +1 known missense c.133 p.E45K 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF21 HGNC ENSG00000118526 69 0 0 59 27 31.3953 MYB 0 genome.wustl.edu 37 6 135516107 135516107 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 135516107 135516107 C T SNP MYB ENST00000525477 human ensembl 74_37 +1 known missense c.958 p.P320S 0.007 NULL pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 22 0 0 11 6 35.2941 MYB 0 genome.wustl.edu 37 6 135518328 135518328 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 135518328 135518328 T C SNP MYB ENST00000341911 human ensembl 74_37 +1 known missense c.1433 p.V478A 1.000 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 78 0 0 66 36 35.2941 KATNA1 0 genome.wustl.edu 37 6 149918302 149918302 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 149918302 149918302 G A SNP KATNA1 ENST00000335647 human ensembl 74_37 -1 known nonsense c.1174 p.R392* 0.996 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNA1 HGNC ENSG00000186625 124 0 0 101 56 35.6688 PLEKHG1 0 genome.wustl.edu 37 6 151153335 151153335 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 151153335 151153335 G A SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known missense c.3088 p.A1030T 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 111 0 0 87 63 42 TIAM2 0 genome.wustl.edu 37 6 155498077 155498077 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 155498077 155498077 A G SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.2489 p.H830R 0.999 smart_Raf-like_ras-bd,pfscan_Raf-like_ras-bd 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 161 0 0 129 59 31.383 RSPH3 0 genome.wustl.edu 37 6 159404767 159404767 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 159404767 159404767 T C SNP RSPH3 ENST00000252655 human ensembl 74_37 -1 known missense c.845 p.D282G 1.000 pfam_Radial_spoke_3 pfam_Radial_spoke_3 - no_errors RSPH3 HGNC ENSG00000130363 111 0 0 115 52 31.1377 IGF2R 0 genome.wustl.edu 37 6 160461669 160461669 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 160461669 160461669 G A SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.1393 p.A465T 1.000 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 126 0 0 138 78 36.1111 T 0 genome.wustl.edu 37 6 166571837 166571837 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 166571837 166571837 G A SNP T ENST00000296946 human ensembl 74_37 -1 known missense c.1274 p.A425V 0.283 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_Brachyury,prints_TF_T-box,pfscan_TF_T-box - no_errors T HGNC ENSG00000164458 199 0 0 153 63 29.1667 MLLT4 0 genome.wustl.edu 37 6 168271129 168271129 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 168271129 168271129 G A SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.365 p.R122Q 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 320 0 0 275 139 33.5749 WDR27 0 genome.wustl.edu 37 6 169982991 169982991 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 169982991 169982991 G A SNP WDR27 ENST00000448612 human ensembl 74_37 -1 known missense c.2464 p.R822W 0.002 pfam_WD40_repeat,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 WDR27 HGNC ENSG00000184465 51 0 0 38 15 28.3019 KIF13A 0 genome.wustl.edu 37 6 17764503 17764503 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 17764503 17764503 A T SNP KIF13A ENST00000259711 human ensembl 74_37 -1 known missense c.5256 p.D1752E 0.064 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 74 0 0 80 6 6.97674 KIF13A 0 genome.wustl.edu 37 6 17764689 17764689 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 17764689 17764689 G A SNP KIF13A ENST00000259711 human ensembl 74_37 -1 known silent c.5070 p.S1690 0.148 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 94 0 0 76 36 32.1429 NHLRC1 0 genome.wustl.edu 37 6 18122645 18122645 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 18122645 18122645 C T SNP NHLRC1 ENST00000340650 human ensembl 74_37 -1 known missense c.193 p.A65T 0.400 smart_Znf_RING,pfscan_Znf_RING smart_Znf_RING,pfscan_NHL_repeat_subgr,pfscan_Znf_RING - no_errors NHLRC1 HGNC ENSG00000187566 19 0 0 15 20 57.1429 TDP2 0 genome.wustl.edu 37 6 24651211 24651211 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 24651211 24651211 A G SNP TDP2 ENST00000545995 human ensembl 74_37 -1 known silent c.984 p.D328 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,superfamily_UBA-like - no_errors TDP2 HGNC ENSG00000111802 104 0 0 122 8 6.15385 HIST1H4A 0 genome.wustl.edu 37 6 26022123 26022123 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 26022123 26022123 T C SNP HIST1H4A ENST00000359907 human ensembl 74_37 +1 known missense c.217 p.Y73H 1.000 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4A HGNC ENSG00000196176 81 0 0 69 60 46.5116 HIST1H4G 0 genome.wustl.edu 37 6 26246947 26246947 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 26246947 26246947 C T SNP HIST1H4G ENST00000244537 human ensembl 74_37 -1 known missense c.259 p.V87M 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4 - no_errors HIST1H4G HGNC ENSG00000124578 64 0 0 46 31 40.2597 HIST1H4I 0 genome.wustl.edu 37 6 27107159 27107159 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 27107159 27107159 C T SNP HIST1H4I ENST00000354348 human ensembl 74_37 +1 known silent c.72 p.R24 0.538 superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4I HGNC ENSG00000198339 61 0 0 52 36 40.9091 HIST1H2BK 0 genome.wustl.edu 37 6 27114460 27114460 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 27114460 27114460 C T SNP HIST1H2BK ENST00000356950 human ensembl 74_37 -1 known missense c.118 p.V40I 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BK HGNC ENSG00000197903 276 0 0 232 119 33.9031 SCAND3 0 genome.wustl.edu 37 6 28540949 28540949 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 28540949 28540949 C T SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.2717 p.C906Y 1.000 superfamily_RNaseH-like_dom pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 94 0 0 78 57 42.2222 OR14J1 0 genome.wustl.edu 37 6 29274633 29274633 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 29274633 29274633 C A SNP OR14J1 ENST00000377160 human ensembl 74_37 +1 known missense c.167 p.P56H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14J1 HGNC ENSG00000204695 270 1 0.369004 234 136 36.7568 TRIM39 0 genome.wustl.edu 37 6 30297302 30297302 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 30297302 30297302 C T SNP TRIM39 ENST00000376656 human ensembl 74_37 +1 known nonsense c.208 p.R70* 0.367 pfscan_Znf_RING 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 113 1 0.877193 97 47 32.6389 HLA-E 0 genome.wustl.edu 37 6 30459108 30459108 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 30459108 30459108 G T SNP HLA-E ENST00000376630 human ensembl 74_37 +1 known missense c.805 p.V269L 0.995 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-E HGNC ENSG00000204592 118 0 0 119 52 30.4094 GNL1 0 genome.wustl.edu 37 6 30520390 30520390 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 30520390 30520390 G A SNP GNL1 ENST00000376621 human ensembl 74_37 -1 known missense c.953 p.A318V 1.000 superfamily_P-loop_NTPase pfam_GTP_binding_domain,superfamily_P-loop_NTPase - no_errors GNL1 HGNC ENSG00000204590 66 0 0 71 26 26.8041 PSORS1C2 0 genome.wustl.edu 37 6 31105997 31105997 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 31105997 31105997 G T SNP PSORS1C2 ENST00000259845 human ensembl 74_37 -1 known missense c.142 p.P48T 0.999 NULL NULL - no_errors PSORS1C2 HGNC ENSG00000204538 23 0 0 20 14 41.1765 SLC44A4 0 genome.wustl.edu 37 6 31838664 31838664 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 31838664 31838664 C T SNP SLC44A4 ENST00000229729 human ensembl 74_37 -1 known missense c.862 p.A288T 0.907 NULL pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 67 0 0 41 24 36.9231 SLC44A4 0 genome.wustl.edu 37 6 31838702 31838702 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 31838702 31838702 T C SNP SLC44A4 ENST00000229729 human ensembl 74_37 -1 known missense c.824 p.Y275C 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 50 0 0 43 9 17.3077 CFB 0 genome.wustl.edu 37 6 31916154 31916154 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 31916154 31916154 G A SNP CFB ENST00000556679 human ensembl 74_37 +1 known missense c.2407 p.A803T 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Peptidase_S1,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CFB HGNC ENSG00000243649 117 0 0 77 47 37.9032 TNXB 0 genome.wustl.edu 37 6 32015707 32015707 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 32015707 32015707 C A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.10122 p.T3374 0.029 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 93 0 0 53 32 37.6471 SLC39A7 0 genome.wustl.edu 37 6 33170162 33170162 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 33170162 33170162 G A SNP SLC39A7 ENST00000374675 human ensembl 74_37 +1 known missense c.757 p.A253T 0.018 pfam_ZIP pfam_ZIP,prints_Kininogen - no_errors SLC39A7 HGNC ENSG00000112473 127 0 0 133 61 31.4433 VPS52 0 genome.wustl.edu 37 6 33231986 33231986 + RNA SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 33231986 33231986 A G SNP VPS52 ENST00000493674 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors VPS52 HGNC ENSG00000223501 31 0 0 26 23 46.9388 CPNE5 0 genome.wustl.edu 37 6 36710137 36710137 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 36710137 36710137 G A SNP CPNE5 ENST00000244751 human ensembl 74_37 -1 known missense c.1690 p.R564C 1.000 NULL pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE5 HGNC ENSG00000124772 107 1 0.925926 82 54 39.7059 KCNK5 0 genome.wustl.edu 37 6 39159204 39159204 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 39159204 39159204 G A SNP KCNK5 ENST00000359534 human ensembl 74_37 -1 known missense c.962 p.T321M 0.017 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 148 0 0 151 73 32.5893 TRERF1 0 genome.wustl.edu 37 6 42236421 42236421 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 42236421 42236421 G A SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known missense c.908 p.P303L 0.055 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 63 0 0 62 30 32.6087 TRERF1 0 genome.wustl.edu 37 6 42237177 42237177 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 42237177 42237177 G A SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known missense c.152 p.S51L 0.984 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 121 0 0 100 52 34.2105 KLC4 0 genome.wustl.edu 37 6 43034086 43034086 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 43034086 43034086 A G SNP KLC4 ENST00000259708 human ensembl 74_37 +1 known missense c.668 p.Y223C 1.000 pfam_Rabaptin_Rab5-bd_dom,prints_Kinesin_light pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC4 HGNC ENSG00000137171 199 0 0 225 23 9.27419 ZNF318 0 genome.wustl.edu 37 6 43325431 43325431 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 43325431 43325431 G A SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known silent c.621 p.S207 0.957 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 204 1 0.487805 155 96 38.247 GPR115 0 genome.wustl.edu 37 6 47682692 47682692 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 47682692 47682692 G A SNP GPR115 ENST00000371220 human ensembl 74_37 +1 known missense c.1882 p.A628T 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR115 HGNC ENSG00000153294 164 0 0 145 84 36.6812 BMP5 0 genome.wustl.edu 37 6 55620351 55620351 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 55620351 55620351 G A SNP BMP5 ENST00000370830 human ensembl 74_37 -1 known missense c.1345 p.R449C 0.993 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP5 HGNC ENSG00000112175 60 0 0 52 35 40.2299 DST 0 genome.wustl.edu 37 6 56351910 56351910 + Silent SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 56351910 56351910 A C SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.20946 p.S6982 0.365 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 49 0 0 44 14 24.1379 DST 0 genome.wustl.edu 37 6 56358915 56358915 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 56358915 56358915 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known nonsense c.20194 p.Q6732* 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 127 0 0 108 60 35.7143 DST 0 genome.wustl.edu 37 6 56362821 56362821 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 56362821 56362821 A T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.19834 p.S6612T 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 141 0 0 131 62 32.1244 ZNF451 0 genome.wustl.edu 37 6 57012429 57012429 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 57012429 57012429 C T SNP ZNF451 ENST00000370706 human ensembl 74_37 +1 known missense c.1546 p.H516Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF451 HGNC ENSG00000112200 376 0 0 353 221 38.5017 PRIM2 0 genome.wustl.edu 37 6 57190736 57190736 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 57190736 57190736 C T SNP PRIM2 ENST00000607273 human ensembl 74_37 +1 known missense c.352 p.R118C 1.000 NULL pfam_DNA_primase_lsu_euk/arc - no_errors PRIM2 HGNC ENSG00000146143 23 0 0 19 10 34.4828 KHDRBS2 0 genome.wustl.edu 37 6 62604724 62604724 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 62604724 62604724 G A SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.626 p.A209V 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 50 0 0 63 23 26.7442 FAM135A 0 genome.wustl.edu 37 6 71233735 71233735 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 71233735 71233735 C A SNP FAM135A ENST00000418814 human ensembl 74_37 +1 known missense c.1169 p.P390H 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 98 0 0 91 32 26.0163 B3GAT2 0 genome.wustl.edu 37 6 71603902 71603902 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 71603902 71603902 A G SNP B3GAT2 ENST00000230053 human ensembl 74_37 -1 known missense c.665 p.V222A 1.000 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT2 HGNC ENSG00000112309 84 0 0 154 9 5.52147 RREB1 0 genome.wustl.edu 37 6 7226755 7226755 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 7226755 7226755 G A SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.763 p.A255T 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 105 0 0 128 17 11.7241 COL12A1 0 genome.wustl.edu 37 6 75799923 75799923 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 75799923 75799923 T C SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known silent c.8844 p.G2948 0.001 pfam_Collagen pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 456 1 0.218818 375 198 34.555 COL12A1 0 genome.wustl.edu 37 6 75833999 75833999 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 75833999 75833999 G T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known silent c.6696 p.S2232 0.986 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 87 0 0 99 53 34.8684 COL12A1 0 genome.wustl.edu 37 6 75848169 75848169 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 75848169 75848169 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.5225 p.R1742H 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 68 0 0 54 35 39.3258 PHIP 0 genome.wustl.edu 37 6 79675723 79675723 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 79675723 79675723 C T SNP PHIP ENST00000275034 human ensembl 74_37 -1 known missense c.3256 p.E1086K 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 243 0 0 202 123 37.8462 IBTK 0 genome.wustl.edu 37 6 82883120 82883120 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 82883120 82883120 T C SNP IBTK ENST00000306270 human ensembl 74_37 -1 known missense c.3761 p.N1254S 0.997 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 93 0 0 75 31 29.2453 DOPEY1 0 genome.wustl.edu 37 6 83847804 83847804 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 83847804 83847804 A G SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.4043 p.D1348G 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 192 0 0 163 98 37.5479 TBX18 0 genome.wustl.edu 37 6 85446535 85446535 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 85446535 85446535 C A SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known silent c.1692 p.T564 0.007 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 140 0 0 95 57 37.5 ZNF292 0 genome.wustl.edu 37 6 87964552 87964552 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 87964552 87964552 C T SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.1205 p.A402V 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 65 0 0 59 30 33.7079 ORC3 0 genome.wustl.edu 37 6 88315636 88315636 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 88315636 88315636 T C SNP ORC3 ENST00000257789 human ensembl 74_37 +1 known silent c.324 p.G108 1.000 pfam_ORC3 pfam_ORC3 - no_errors ORC3 HGNC ENSG00000135336 101 0 0 98 38 27.9412 ANKRD6 0 genome.wustl.edu 37 6 90312801 90312801 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 90312801 90312801 C T SNP ANKRD6 ENST00000339746 human ensembl 74_37 +1 known silent c.273 p.I91 0.076 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_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 ANKRD6 HGNC ENSG00000135299 23 0 0 12 11 47.8261 MDN1 0 genome.wustl.edu 37 6 90380703 90380703 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 90380703 90380703 T C SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.13891 p.T4631A 0.901 superfamily_ARM-type_fold,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 64 0 0 67 28 29.4737 BACH2 0 genome.wustl.edu 37 6 90659999 90659999 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 90659999 90659999 C A SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known missense c.1826 p.R609M 1.000 superfamily_TF_DNA-bd pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 132 1 0.75188 126 45 26.3158 BACH2 0 genome.wustl.edu 37 6 90660239 90660239 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 90660239 90660239 G A SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known missense c.1586 p.A529V 1.000 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 99 0 0 92 34 26.9841 PNISR 0 genome.wustl.edu 37 6 99849046 99849046 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 99849046 99849046 T A SNP PNISR ENST00000369239 human ensembl 74_37 -1 known missense c.1788 p.R596S 0.994 NULL NULL - no_errors PNISR HGNC ENSG00000132424 191 0 0 213 72 25.2632 MUC17 0 genome.wustl.edu 37 7 100681299 100681299 + Missense_Mutation SNP C C G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 100681299 100681299 C G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.6602 p.S2201C 0.013 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 628 0 0 482 302 38.5204 PMPCB 0 genome.wustl.edu 37 7 102940681 102940681 + Silent SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 102940681 102940681 T G SNP PMPCB ENST00000249269 human ensembl 74_37 +1 known silent c.384 p.A128 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors PMPCB HGNC ENSG00000105819 161 0 0 153 80 34.3348 SLC26A5 0 genome.wustl.edu 37 7 103030877 103030877 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 103030877 103030877 T C SNP SLC26A5 ENST00000306312 human ensembl 74_37 -1 known missense c.1310 p.Q437R 1.000 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 93 0 0 72 44 37.931 SLC26A5 0 genome.wustl.edu 37 7 103050937 103050937 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 103050937 103050937 G A SNP SLC26A5 ENST00000306312 human ensembl 74_37 -1 known silent c.630 p.V210 0.995 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 61 0 0 73 31 29.8077 KMT2E 0 genome.wustl.edu 37 7 104753406 104753406 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 104753406 104753406 T C SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.5203 p.S1735P 0.948 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 128 0 0 114 66 36.6667 PNPLA8 0 genome.wustl.edu 37 7 108155211 108155211 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 108155211 108155211 T C SNP PNPLA8 ENST00000257694 human ensembl 74_37 -1 known missense c.725 p.E242G 0.419 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold - no_errors PNPLA8 HGNC ENSG00000135241 90 0 0 102 8 7.27273 ANKRD7 0 genome.wustl.edu 37 7 117867989 117867989 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 117867989 117867989 T C SNP ANKRD7 ENST00000357099 human ensembl 74_37 +1 known silent c.183 p.V61 0.022 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 27 0 0 24 19 44.186 SLC13A1 0 genome.wustl.edu 37 7 122809232 122809232 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 122809232 122809232 C T SNP SLC13A1 ENST00000194130 human ensembl 74_37 -1 known missense c.523 p.G175R 0.994 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 88 0 0 64 27 29.6703 SND1 0 genome.wustl.edu 37 7 127447559 127447559 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 127447559 127447559 C T SNP SND1 ENST00000354725 human ensembl 74_37 +1 known missense c.1174 p.P392S 1.000 pfam_Staphylococal_nuclease_OB-fold,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococal_nuclease_OB-fold pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 142 0 0 130 68 34.3434 CCDC136 0 genome.wustl.edu 37 7 128452101 128452101 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 128452101 128452101 G A SNP CCDC136 ENST00000297788 human ensembl 74_37 +1 known missense c.2276 p.R759H 0.000 NULL NULL - no_errors CCDC136 HGNC ENSG00000128596 117 0 0 89 42 32.0611 FLNC 0 genome.wustl.edu 37 7 128470849 128470849 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 128470849 128470849 T C SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.158 p.V53A 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain 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 35 0 0 35 16 31.3725 PLXNA4 0 genome.wustl.edu 37 7 131831339 131831339 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 131831339 131831339 T C SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.4985 p.D1662G 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot 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 PLXNA4 HGNC ENSG00000221866 369 1 0.27027 326 134 29.1304 CHRM2 0 genome.wustl.edu 37 7 136700105 136700105 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 136700105 136700105 A T SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.493 p.I165F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 201 0 0 158 68 30.0885 SVOPL 0 genome.wustl.edu 37 7 138312947 138312947 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 138312947 138312947 G A SNP SVOPL ENST00000288513 human ensembl 74_37 -1 known missense c.569 p.S190F 0.997 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SVOPL HGNC ENSG00000157703 119 0 0 61 51 45.5357 KIAA1147 0 genome.wustl.edu 37 7 141365032 141365032 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 141365032 141365032 C T SNP KIAA1147 ENST00000536163 human ensembl 74_37 -1 known missense c.907 p.V303M 1.000 pfam_DUF2347 pfam_DUF2347 - no_errors KIAA1147 HGNC ENSG00000257093 25 0 0 20 12 37.5 WEE2 0 genome.wustl.edu 37 7 141408668 141408668 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 141408668 141408668 C T SNP WEE2 ENST00000397541 human ensembl 74_37 +1 known missense c.110 p.S37L 0.004 pirsf_Wee1-like_protein_kinase 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 301 1 0.331126 240 127 34.6049 KEL 0 genome.wustl.edu 37 7 142651031 142651031 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 142651031 142651031 C T SNP KEL ENST00000355265 human ensembl 74_37 -1 known missense c.937 p.A313T 0.996 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors KEL HGNC ENSG00000197993 136 0 0 131 50 27.6243 OR2F2 0 genome.wustl.edu 37 7 143632813 143632813 + Missense_Mutation SNP C C G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 143632813 143632813 C G SNP OR2F2 ENST00000408955 human ensembl 74_37 +1 known missense c.488 p.T163S 0.009 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2F2 HGNC ENSG00000221910 95 0 0 86 52 37.6812 MICALL2 0 genome.wustl.edu 37 7 1479613 1479613 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 1479613 1479613 G A SNP MICALL2 ENST00000297508 human ensembl 74_37 -1 known silent c.1914 p.P638 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 35 0 0 25 15 37.5 CUL1 0 genome.wustl.edu 37 7 148464776 148464776 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 148464776 148464776 T G SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known missense c.1018 p.L340V 0.701 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 148 0 0 135 68 33.4975 ZNF783 0 genome.wustl.edu 37 7 148963504 148963504 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 148963504 148963504 T C SNP ZNF783 ENST00000434415 human ensembl 74_37 +1 known missense c.103 p.Y35H 0.830 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,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 ZNF783 HGNC ENSG00000204946 41 0 0 39 4 9.30233 TMEM176B 0 genome.wustl.edu 37 7 150493591 150493591 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 150493591 150493591 C T SNP TMEM176B ENST00000326442 human ensembl 74_37 -1 known missense c.67 p.V23I 0.047 NULL pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors TMEM176B HGNC ENSG00000106565 119 0 0 87 46 34.5865 AOC1 0 genome.wustl.edu 37 7 150554663 150554663 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 150554663 150554663 A G SNP AOC1 ENST00000416793 human ensembl 74_37 +1 known missense c.1105 p.T369A 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 140 0 0 96 64 40 ASIC3 0 genome.wustl.edu 37 7 150747861 150747861 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 150747861 150747861 C T SNP ASIC3 ENST00000297512 human ensembl 74_37 +1 known missense c.830 p.P277L 0.255 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC3 HGNC ENSG00000213199 60 0 0 54 30 35.7143 FASTK 0 genome.wustl.edu 37 7 150773807 150773807 + RNA SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 150773807 150773807 A G SNP FASTK ENST00000489884 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FASTK HGNC ENSG00000164896 17 0 0 15 9 37.5 KMT2C 0 genome.wustl.edu 37 7 151891595 151891595 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 151891595 151891595 A G SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known silent c.4437 p.S1479 0.998 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_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 107 0 0 94 57 37.7483 NOM1 0 genome.wustl.edu 37 7 156745292 156745292 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 156745292 156745292 G T SNP NOM1 ENST00000275820 human ensembl 74_37 +1 known missense c.1112 p.R371M 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors NOM1 HGNC ENSG00000146909 124 0 0 87 36 29.2683 WDR60 0 genome.wustl.edu 37 7 158711457 158711457 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 158711457 158711457 T C SNP WDR60 ENST00000407559 human ensembl 74_37 +1 known silent c.1818 p.D606 0.092 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 108 0 0 106 45 29.8013 HDAC9 0 genome.wustl.edu 37 7 18767320 18767320 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 18767320 18767320 G A SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known missense c.1849 p.A617T 0.995 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 20 0 0 23 16 41.0256 TMEM196 0 genome.wustl.edu 37 7 19765163 19765163 + Missense_Mutation SNP G G C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 19765163 19765163 G C SNP TMEM196 ENST00000405764 human ensembl 74_37 -1 known missense c.433 p.H145D 1.000 NULL NULL - no_errors TMEM196 HGNC ENSG00000173452 83 0 0 62 42 40.3846 MAD1L1 0 genome.wustl.edu 37 7 2108876 2108876 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 2108876 2108876 C T SNP MAD1L1 ENST00000265854 human ensembl 74_37 -1 known missense c.1171 p.E391K 0.994 pfam_Mad1 pfam_Mad1 - no_errors MAD1L1 HGNC ENSG00000002822 134 0 0 114 51 30.9091 FTSJ2 0 genome.wustl.edu 37 7 2279284 2279284 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 2279284 2279284 G A SNP FTSJ2 ENST00000242257 human ensembl 74_37 -1 known missense c.67 p.R23C 0.000 NULL pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E - no_errors FTSJ2 HGNC ENSG00000122687 222 0 0 170 103 37.7289 SNX8 0 genome.wustl.edu 37 7 2297420 2297420 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 2297420 2297420 C T SNP SNX8 ENST00000222990 human ensembl 74_37 -1 known missense c.934 p.D312N 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX8 HGNC ENSG00000106266 348 0 0 255 154 37.6528 BRAT1 0 genome.wustl.edu 37 7 2583343 2583343 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 2583343 2583343 G A SNP BRAT1 ENST00000340611 human ensembl 74_37 -1 known silent c.684 p.C228 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 75 0 0 62 30 32.6087 HOXA3 0 genome.wustl.edu 37 7 27150193 27150193 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 27150193 27150193 C T SNP HOXA3 ENST00000317201 human ensembl 74_37 -1 known missense c.67 p.G23R 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 29 0 0 33 25 43.1034 CARD11 0 genome.wustl.edu 37 7 2974156 2974156 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 2974156 2974156 T C SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known silent c.1449 p.S483 0.102 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 54 0 0 46 16 25.8065 CARD11 0 genome.wustl.edu 37 7 2984023 2984023 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 2984023 2984023 C T SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known silent c.507 p.T169 0.721 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 131 0 0 113 77 40.5263 DPY19L1 0 genome.wustl.edu 37 7 35009088 35009088 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 35009088 35009088 A G SNP DPY19L1 ENST00000310974 human ensembl 74_37 -1 known missense c.752 p.F251S 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L1 HGNC ENSG00000173852 41 0 0 32 19 37.2549 SEPT7 0 genome.wustl.edu 37 7 35925464 35925464 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 35925464 35925464 A G SNP SEPT7 ENST00000399034 human ensembl 74_37 +1 known missense c.850 p.T284A 1.000 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin7 - no_errors SEPT7 HGNC ENSG00000122545 11 0 0 34 4 10.5263 POU6F2 0 genome.wustl.edu 37 7 39472696 39472696 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 39472696 39472696 G A SNP POU6F2 ENST00000403058 human ensembl 74_37 +1 known silent c.1047 p.L349 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 72 0 0 65 34 34.3434 C7orf10 0 genome.wustl.edu 37 7 40900065 40900065 + Missense_Mutation SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 40900065 40900065 A C SNP C7orf10 ENST00000309930 human ensembl 74_37 +1 known missense c.1403 p.H468P 0.863 NULL pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors C7orf10 HGNC ENSG00000175600 116 0 0 89 37 29.3651 GLI3 0 genome.wustl.edu 37 7 42005281 42005281 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 42005281 42005281 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.3390 p.D1130 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 168 0 0 156 97 38.3399 TBRG4 0 genome.wustl.edu 37 7 45148709 45148709 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 45148709 45148709 G A SNP TBRG4 ENST00000258770 human ensembl 74_37 -1 known missense c.128 p.A43V 0.004 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors TBRG4 HGNC ENSG00000136270 140 0 0 121 56 31.6384 PKD1L1 0 genome.wustl.edu 37 7 47851503 47851503 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 47851503 47851503 G A SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.7493 p.T2498M 0.001 pfam_PKD1_2_channel pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 19 0 0 17 9 34.6154 PKD1L1 0 genome.wustl.edu 37 7 47942044 47942044 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 47942044 47942044 G A SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known nonsense c.1996 p.Q666* 0.245 superfamily_PKD_dom,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 56 0 0 48 19 28.3582 RNF216 0 genome.wustl.edu 37 7 5662491 5662491 + Nonstop_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 5662491 5662491 T C SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known nonstop c.2772 p.*924W 0.975 NULL smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 255 0 0 205 96 31.8937 ZNF727 0 genome.wustl.edu 37 7 63538708 63538708 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 63538708 63538708 A G SNP ZNF727 ENST00000550760 human ensembl 74_37 +1 known silent c.1281 p.E427 0.746 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 ZNF727 HGNC ENSG00000257482 15 0 0 23 8 25.8065 ZNF107 0 genome.wustl.edu 37 7 64167799 64167799 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 64167799 64167799 G A SNP ZNF107 ENST00000344930 human ensembl 74_37 +1 known missense c.1117 p.E373K 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 72 0 0 69 30 30.303 ZNF107 0 genome.wustl.edu 37 7 64168521 64168521 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 64168521 64168521 T C SNP ZNF107 ENST00000344930 human ensembl 74_37 +1 known silent c.1839 p.C613 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 98 0 0 73 39 34.8214 CCT6P1 0 genome.wustl.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 65222986 65222986 G T SNP CCT6P1 ENST00000442266 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors CCT6P1 HGNC ENSG00000228409 16 0 0 28 12 30 C7orf26 0 genome.wustl.edu 37 7 6634210 6634210 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 6634210 6634210 G A SNP C7orf26 ENST00000344417 human ensembl 74_37 +1 known missense c.559 p.A187T 0.960 NULL NULL - no_errors C7orf26 HGNC ENSG00000146576 135 0 0 104 57 35.4037 PMS2CL 0 genome.wustl.edu 37 7 6785809 6785809 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 6785809 6785809 C T SNP PMS2CL ENST00000431453 human ensembl 74_37 +1 known rna NULL NULL 0.643 - - - no_errors PMS2CL HGNC ENSG00000187953 45 0 0 44 12 21.4286 BAZ1B 0 genome.wustl.edu 37 7 72892140 72892140 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 72892140 72892140 G A SNP BAZ1B ENST00000339594 human ensembl 74_37 -1 known missense c.1651 p.R551W 1.000 superfamily_ARM-type_fold pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 346 0 0 331 123 27.0925 HEATR2 0 genome.wustl.edu 37 7 808793 808793 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 808793 808793 C T SNP HEATR2 ENST00000403952 human ensembl 74_37 +1 putative silent c.9 p.G3 0.000 NULL pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors HEATR2 HGNC ENSG00000164818 17 0 0 18 7 28 SEMA3E 0 genome.wustl.edu 37 7 83277761 83277761 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 83277761 83277761 A G SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known missense c.98 p.L33S 0.998 superfamily_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 74 0 0 57 39 40.625 ABCB1 0 genome.wustl.edu 37 7 87183250 87183250 + Splice_Site SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 87183250 87183250 T C SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known splice_site c.828-2 e8-2 1.000 - - - no_errors ABCB1 HGNC ENSG00000085563 92 0 0 107 6 5.30973 C7orf63 0 genome.wustl.edu 37 7 89936277 89936277 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 89936277 89936277 T C SNP C7orf63 ENST00000389297 human ensembl 74_37 +1 known silent c.2328 p.T776 0.013 NULL superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 29 0 0 29 15 34.0909 CDK14 0 genome.wustl.edu 37 7 90747392 90747392 + Missense_Mutation SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 90747392 90747392 T G SNP CDK14 ENST00000380050 human ensembl 74_37 +1 known missense c.1307 p.F436C 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK14 HGNC ENSG00000058091 110 0 0 123 63 33.871 AKAP9 0 genome.wustl.edu 37 7 91645473 91645473 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 91645473 91645473 A G SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.3679 p.T1227A 0.999 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 39 0 0 35 17 32.6923 SAMD9 0 genome.wustl.edu 37 7 92734173 92734173 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 92734173 92734173 T C SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.1238 p.Y413C 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 36 0 0 58 13 18.3099 PPP1R9A 0 genome.wustl.edu 37 7 94750077 94750077 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 94750077 94750077 G A SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known missense c.1582 p.G528R 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 261 0 0 207 121 36.8902 DYNC1I1 0 genome.wustl.edu 37 7 95726809 95726809 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 95726809 95726809 C T SNP DYNC1I1 ENST00000324972 human ensembl 74_37 +1 known silent c.1842 p.H614 1.000 pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC ENSG00000158560 94 0 0 64 44 40.7407 ASNS 0 genome.wustl.edu 37 7 97493592 97493592 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 97493592 97493592 C T SNP ASNS ENST00000175506 human ensembl 74_37 -1 known missense c.466 p.A156T 1.000 pfam_GATase_dom,tigrfam_Asn_synth_AEB pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB - no_errors ASNS HGNC ENSG00000070669 80 0 0 73 31 29.8077 TRRAP 0 genome.wustl.edu 37 7 98608823 98608823 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 98608823 98608823 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.11045 p.A3682V 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom 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 162 0 0 147 86 36.9099 VPS13B 0 genome.wustl.edu 37 8 100108587 100108587 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 100108587 100108587 T C SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known silent c.339 p.A113 0.902 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 96 0 0 170 71 29.4606 VPS13B 0 genome.wustl.edu 37 8 100133550 100133550 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 100133550 100133550 T C SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known silent c.1083 p.D361 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 112 0 0 147 67 31.3084 UBR5 0 genome.wustl.edu 37 8 103292631 103292631 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 103292631 103292631 T C SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.5992 p.T1998A 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 71 0 0 90 32 26.2295 SYBU 0 genome.wustl.edu 37 8 110656869 110656869 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 110656869 110656869 C T SNP SYBU ENST00000276646 human ensembl 74_37 -1 known missense c.20 p.S7N 0.007 NULL NULL - no_errors SYBU HGNC ENSG00000147642 9 0 0 7 4 36.3636 CTSB 0 genome.wustl.edu 37 8 11705324 11705324 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 11705324 11705324 T C SNP CTSB ENST00000345125 human ensembl 74_37 -1 known silent c.540 p.R180 0.925 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Propeptide_C1A,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSB HGNC ENSG00000164733 89 0 0 132 27 16.9811 AARD 0 genome.wustl.edu 37 8 117955011 117955011 + RNA SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 117955011 117955011 G A SNP AARD ENST00000523536 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors AARD HGNC ENSG00000205002 17 0 0 26 8 23.5294 TAF2 0 genome.wustl.edu 37 8 120795639 120795639 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 120795639 120795639 A G SNP TAF2 ENST00000378164 human ensembl 74_37 -1 known silent c.2094 p.A698 0.852 superfamily_ARM-type_fold pfam_Peptidase_M1_N,superfamily_ARM-type_fold - no_errors TAF2 HGNC ENSG00000064313 217 0 0 305 63 17.1196 TAF2 0 genome.wustl.edu 37 8 120818521 120818521 + Splice_Site SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 120818521 120818521 A G SNP TAF2 ENST00000378164 human ensembl 74_37 -1 known splice_site c.418+2 e4+2 1.000 - - - no_errors TAF2 HGNC ENSG00000064313 297 0 0 339 122 26.4642 SNTB1 0 genome.wustl.edu 37 8 121554212 121554212 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 121554212 121554212 A G SNP SNTB1 ENST00000395601 human ensembl 74_37 -1 known silent c.1362 p.R454 0.029 NULL pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB1 HGNC ENSG00000172164 141 0 0 207 47 18.5039 HAS2 0 genome.wustl.edu 37 8 122641434 122641434 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 122641434 122641434 A G SNP HAS2 ENST00000303924 human ensembl 74_37 -1 known silent c.147 p.Y49 0.997 NULL pfam_Chitin_synth_fng - no_errors HAS2 HGNC ENSG00000170961 243 0 0 342 101 22.7991 FAM86B2 0 genome.wustl.edu 37 8 12291578 12291578 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 12291578 12291578 G A SNP FAM86B2 ENST00000262365 human ensembl 74_37 -1 known missense c.142 p.R48W 0.960 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors FAM86B2 HGNC ENSG00000145002 73 0 0 121 22 15.3846 ZHX2 0 genome.wustl.edu 37 8 123964129 123964129 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 123964129 123964129 G A SNP ZHX2 ENST00000314393 human ensembl 74_37 +1 known missense c.379 p.D127N 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 84 0 0 139 46 24.8649 FAM83A 0 genome.wustl.edu 37 8 124204041 124204041 + Splice_Site SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 124204041 124204041 A G SNP FAM83A ENST00000318462 human ensembl 74_37 +1 known splice_site c.481-2 e2-2 1.000 - - - no_errors FAM83A HGNC ENSG00000147689 267 0 0 326 89 21.4458 ZHX1 0 genome.wustl.edu 37 8 124266020 124266020 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 124266020 124266020 A G SNP ZHX1 ENST00000297857 human ensembl 74_37 -1 known missense c.2167 p.Y723H 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 172 0 0 201 70 25.8303 ATAD2 0 genome.wustl.edu 37 8 124340720 124340720 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 124340720 124340720 G A SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.3578 p.A1193V 0.000 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 170 0 0 218 67 23.5088 FER1L6 0 genome.wustl.edu 37 8 125131154 125131154 + Nonsense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 125131154 125131154 C T SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known nonsense c.5359 p.R1787* 0.983 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 41 0 0 60 11 15.493 SQLE 0 genome.wustl.edu 37 8 126021227 126021227 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 126021227 126021227 A G SNP SQLE ENST00000265896 human ensembl 74_37 +1 known silent c.837 p.P279 0.935 pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,prints_Rng_hydrolase-like pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like - no_errors SQLE HGNC ENSG00000104549 23 0 0 32 5 13.5135 FAM49B 0 genome.wustl.edu 37 8 130861526 130861526 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 130861526 130861526 T C SNP FAM49B ENST00000401979 human ensembl 74_37 -1 known missense c.803 p.H268R 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49B HGNC ENSG00000153310 69 0 0 107 32 23.0216 ASAP1 0 genome.wustl.edu 37 8 131124450 131124450 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 131124450 131124450 C T SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.2291 p.R764Q 1.000 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 147 0 0 162 64 28.3186 ASAP1 0 genome.wustl.edu 37 8 131172152 131172152 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 131172152 131172152 T C SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.968 p.Y323C 0.989 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 264 0 0 351 114 24.5161 ASAP1 0 genome.wustl.edu 37 8 131226861 131226861 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 131226861 131226861 T C SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.346 p.T116A 1.000 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 118 0 0 169 67 28.3898 ST3GAL1 0 genome.wustl.edu 37 8 134477028 134477028 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 134477028 134477028 T C SNP ST3GAL1 ENST00000319914 human ensembl 74_37 -1 known missense c.676 p.I226V 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL1 HGNC ENSG00000008513 138 1 0.719424 244 15 5.79151 COL22A1 0 genome.wustl.edu 37 8 139890149 139890149 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 139890149 139890149 C T SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.502 p.A168T 0.997 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 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 14 0 0 26 6 18.75 GPR20 0 genome.wustl.edu 37 8 142367548 142367548 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 142367548 142367548 C T SNP GPR20 ENST00000377741 human ensembl 74_37 -1 known missense c.476 p.R159H 0.121 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR20 HGNC ENSG00000204882 11 0 0 11 6 35.2941 PSCA 0 genome.wustl.edu 37 8 143763436 143763436 + Nonsense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 143763436 143763436 C A SNP PSCA ENST00000301258 human ensembl 74_37 +1 known nonsense c.231 p.C77* 0.949 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors PSCA HGNC ENSG00000167653 24 0 0 39 16 29.0909 ZC3H3 0 genome.wustl.edu 37 8 144620193 144620193 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 144620193 144620193 G T SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known silent c.1344 p.I448 0.960 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 119 0 0 127 49 27.8409 FAM83H 0 genome.wustl.edu 37 8 144811260 144811260 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 144811260 144811260 A G SNP FAM83H ENST00000388913 human ensembl 74_37 -1 known missense c.614 p.F205S 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83H HGNC ENSG00000180921 189 1 0.526316 276 55 16.6163 PLEC 0 genome.wustl.edu 37 8 144993053 144993053 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 144993053 144993053 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.11347 p.R3783C 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 132 0 0 182 52 22.2222 PLEC 0 genome.wustl.edu 37 8 144994803 144994803 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 144994803 144994803 G T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.9597 p.A3199 0.313 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 57 0 0 100 33 24.812 PLEC 0 genome.wustl.edu 37 8 144999422 144999422 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 144999422 144999422 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known nonsense c.5086 p.R1696* 0.999 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 24 0 0 22 12 35.2941 GRINA 0 genome.wustl.edu 37 8 145066963 145066963 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 145066963 145066963 A G SNP GRINA ENST00000313269 human ensembl 74_37 +1 known missense c.1070 p.N357S 1.000 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors GRINA HGNC ENSG00000178719 38 0 0 45 7 13.4615 OPLAH 0 genome.wustl.edu 37 8 145107485 145107485 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 145107485 145107485 A G SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known missense c.3170 p.V1057A 0.180 pfam_Hydantoinase_B pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 26 0 0 19 5 20.8333 COMMD5 0 genome.wustl.edu 37 8 146076258 146076258 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 146076258 146076258 G A SNP COMMD5 ENST00000450361 human ensembl 74_37 -1 known missense c.466 p.R156W 0.679 pfam_HCaRG pfam_HCaRG - no_errors COMMD5 HGNC ENSG00000170619 23 0 0 32 17 34.6939 TUSC3 0 genome.wustl.edu 37 8 15600973 15600973 + RNA SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 15600973 15600973 T C SNP TUSC3 ENST00000508446 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors TUSC3 HGNC ENSG00000104723 53 0 0 93 37 28.4615 RPL23AP53 0 genome.wustl.edu 37 8 163212 163212 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 163212 163212 C T SNP RPL23AP53 ENST00000606975 human ensembl 74_37 -1 known rna NULL NULL 0.925 - - - no_errors RPL23AP53 HGNC ENSG00000223508 69 0 0 102 23 18.4 PSD3 0 genome.wustl.edu 37 8 18729499 18729499 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 18729499 18729499 C T SNP PSD3 ENST00000440756 human ensembl 74_37 -1 known missense c.875 p.R292H 0.977 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 124 0 0 181 58 24.2678 ZNF596 0 genome.wustl.edu 37 8 195403 195403 + Missense_Mutation SNP A A C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 195403 195403 A C SNP ZNF596 ENST00000308811 human ensembl 74_37 +1 known missense c.556 p.S186R 0.054 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 ZNF596 HGNC ENSG00000172748 125 0 0 150 58 27.8846 LZTS1 0 genome.wustl.edu 37 8 20110461 20110461 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 20110461 20110461 C T SNP LZTS1 ENST00000265801 human ensembl 74_37 -1 known silent c.981 p.A327 0.000 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 43 0 0 72 23 24.2105 LZTS1 0 genome.wustl.edu 37 8 20110845 20110845 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 20110845 20110845 G T SNP LZTS1 ENST00000265801 human ensembl 74_37 -1 known silent c.597 p.P199 0.994 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 63 0 0 99 26 20.8 MYOM2 0 genome.wustl.edu 37 8 2044108 2044108 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 2044108 2044108 G A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.2147 p.G716E 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_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 221 0 0 251 83 24.8503 XPO7 0 genome.wustl.edu 37 8 21835279 21835279 + Splice_Site SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 21835279 21835279 A G SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known splice_site c.791-2 e8-2 1.000 - - - no_errors XPO7 HGNC ENSG00000130227 51 0 0 68 19 21.8391 XPO7 0 genome.wustl.edu 37 8 21846547 21846547 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 21846547 21846547 A G SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known silent c.1848 p.E616 0.997 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 40 0 0 69 21 23.3333 HR 0 genome.wustl.edu 37 8 21973915 21973915 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 21973915 21973915 G A SNP HR ENST00000381418 human ensembl 74_37 -1 known silent c.3405 p.S1135 0.931 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 47 0 0 50 12 19.3548 TNFRSF10A 0 genome.wustl.edu 37 8 23058108 23058108 + Nonsense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 23058108 23058108 C A SNP TNFRSF10A ENST00000221132 human ensembl 74_37 -1 known nonsense c.709 p.G237* 0.000 pirsf_TNFR_10 pirsf_TNFR_10,pfam_Death_domain,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_10,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF10A HGNC ENSG00000104689 89 0 0 108 43 28.4768 ADAM7 0 genome.wustl.edu 37 8 24323272 24323272 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 24323272 24323272 A G SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known missense c.373 p.T125A 1.000 pfam_Peptidase_M12B_N 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 73 0 0 111 20 15.2672 DOCK5 0 genome.wustl.edu 37 8 25154129 25154129 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 25154129 25154129 T C SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.571 p.S191P 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 27 0 0 33 5 13.1579 GNRH1 0 genome.wustl.edu 37 8 25280721 25280721 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 25280721 25280721 A G SNP GNRH1 ENST00000276414 human ensembl 74_37 -1 known silent c.126 p.I42 0.035 prints_Gonadoliberin_I_precursor pfam_GnRH,prints_Gonadoliberin_I_precursor - no_errors GNRH1 HGNC ENSG00000147437 164 0 0 205 58 22.0532 CDCA2 0 genome.wustl.edu 37 8 25364904 25364904 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 25364904 25364904 A G SNP CDCA2 ENST00000330560 human ensembl 74_37 +1 known missense c.2722 p.I908V 0.101 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 320 0 0 436 107 19.7053 SDAD1P1 0 genome.wustl.edu 37 8 26237450 26237450 + RNA SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 26237450 26237450 C A SNP SDAD1P1 ENST00000519902 human ensembl 74_37 -1 known rna NULL NULL 0.899 - - - no_errors SDAD1P1 HGNC ENSG00000228451 92 0 0 151 42 21.7617 PTK2B 0 genome.wustl.edu 37 8 27287640 27287640 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 27287640 27287640 A G SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known silent c.582 p.A194 0.418 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,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 PTK2B HGNC ENSG00000120899 616 0 0 670 262 28.1116 EXTL3 0 genome.wustl.edu 37 8 28575031 28575031 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 28575031 28575031 G A SNP EXTL3 ENST00000220562 human ensembl 74_37 +1 known silent c.1455 p.V485 1.000 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 91 0 0 117 38 24.5161 NRG1 0 genome.wustl.edu 37 8 32600231 32600231 + Missense_Mutation SNP A A T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 32600231 32600231 A T SNP NRG1 ENST00000356819 human ensembl 74_37 +1 known missense c.671 p.Y224F 1.000 NULL pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 259 0 0 314 133 29.7539 WHSC1L1 0 genome.wustl.edu 37 8 38205098 38205098 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 38205098 38205098 T C SNP WHSC1L1 ENST00000317025 human ensembl 74_37 -1 known missense c.592 p.K198E 1.000 NULL 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 258 0 0 386 82 17.5214 PRKDC 0 genome.wustl.edu 37 8 48740750 48740750 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 48740750 48740750 T C SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.8553 p.P2851 1.000 NULL 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 36 0 0 62 21 25.3012 PRKDC 0 genome.wustl.edu 37 8 48761849 48761849 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 48761849 48761849 C T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.7143 p.V2381 0.952 superfamily_ARM-type_fold 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 187 0 0 266 81 23.3429 MCM4 0 genome.wustl.edu 37 8 48888391 48888391 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 48888391 48888391 C T SNP MCM4 ENST00000262105 human ensembl 74_37 +1 known missense c.2482 p.R828W 0.998 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 52 0 0 88 19 17.757 ST18 0 genome.wustl.edu 37 8 53126792 53126792 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 53126792 53126792 G A SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.26 p.T9M 0.998 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 128 0 0 167 54 24.4344 RB1CC1 0 genome.wustl.edu 37 8 53569170 53569170 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 53569170 53569170 T C SNP RB1CC1 ENST00000025008 human ensembl 74_37 -1 known silent c.3219 p.E1073 0.994 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 104 0 0 138 29 17.3653 FAM110B 0 genome.wustl.edu 37 8 59059811 59059811 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 59059811 59059811 G A SNP FAM110B ENST00000361488 human ensembl 74_37 +1 known missense c.1022 p.G341D 1.000 NULL NULL - no_errors FAM110B HGNC ENSG00000169122 31 0 0 57 18 24 TOX 0 genome.wustl.edu 37 8 59739434 59739434 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 59739434 59739434 T C SNP TOX ENST00000361421 human ensembl 74_37 -1 known missense c.952 p.K318E 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX HGNC ENSG00000198846 37 0 0 55 19 25.6757 BHLHE22 0 genome.wustl.edu 37 8 65494211 65494211 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 65494211 65494211 C T SNP BHLHE22 ENST00000321870 human ensembl 74_37 +1 known silent c.864 p.L288 0.998 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 BHLHE22 HGNC ENSG00000180828 29 0 0 46 13 22.0339 TRIM55 0 genome.wustl.edu 37 8 67049351 67049351 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 67049351 67049351 G A SNP TRIM55 ENST00000315962 human ensembl 74_37 +1 known missense c.529 p.A177T 1.000 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 TRIM55 HGNC ENSG00000147573 51 0 0 87 21 19.4444 C8orf46 0 genome.wustl.edu 37 8 67405952 67405952 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 67405952 67405952 G T SNP C8orf46 ENST00000305454 human ensembl 74_37 +1 known missense c.69 p.K23N 1.000 NULL NULL - no_errors C8orf46 HGNC ENSG00000169085 51 0 0 78 17 17.8947 MCMDC2 0 genome.wustl.edu 37 8 67796162 67796162 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 67796162 67796162 C T SNP MCMDC2 ENST00000422365 human ensembl 74_37 +1 known missense c.1006 p.R336C 0.000 smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase - no_errors MCMDC2 HGNC ENSG00000178460 125 0 0 152 53 25.8537 MCMDC2 0 genome.wustl.edu 37 8 67803170 67803170 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 67803170 67803170 A G SNP MCMDC2 ENST00000422365 human ensembl 74_37 +1 known missense c.1144 p.T382A 0.999 smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase - no_errors MCMDC2 HGNC ENSG00000178460 231 0 0 331 66 16.6247 PPP1R42 0 genome.wustl.edu 37 8 67922971 67922971 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 67922971 67922971 G A SNP PPP1R42 ENST00000522909 human ensembl 74_37 -1 known silent c.531 p.D177 1.000 NULL pfam_Leu-rich_rpt - no_errors PPP1R42 HGNC ENSG00000178125 70 0 0 73 25 25.5102 TRPA1 0 genome.wustl.edu 37 8 72967924 72967924 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 72967924 72967924 G A SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.1361 p.A454V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 97 0 0 102 42 29.1667 TRPA1 0 genome.wustl.edu 37 8 72981394 72981394 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 72981394 72981394 T C SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.308 p.H103R 1.000 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,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 179 0 0 221 97 30.5031 KCNB2 0 genome.wustl.edu 37 8 73849583 73849583 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 73849583 73849583 G T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.1993 p.G665C 0.069 pfam_K_chnl_volt-dep_Kv2 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_Kv2.2,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 KCNB2 HGNC ENSG00000182674 114 0 0 132 36 21.4286 PI15 0 genome.wustl.edu 37 8 75737657 75737657 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 75737657 75737657 G A SNP PI15 ENST00000260113 human ensembl 74_37 +1 known missense c.173 p.R58Q 1.000 superfamily_CAP_domain pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI15 HGNC ENSG00000137558 103 0 0 175 55 23.913 ZFHX4 0 genome.wustl.edu 37 8 77768496 77768496 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 77768496 77768496 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.9339 p.N3113 0.996 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 66 0 0 92 25 21.3675 PEX2 0 genome.wustl.edu 37 8 77896243 77896243 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 77896243 77896243 C T SNP PEX2 ENST00000357039 human ensembl 74_37 -1 known missense c.172 p.A58T 1.000 pfam_Pex_N pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING - no_errors PEX2 HGNC ENSG00000164751 67 0 0 92 44 32.3529 ENSG00000258256 0 genome.wustl.edu 37 8 86157915 86157915 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 86157915 86157915 C T SNP ENSG00000258256 ENST00000549291 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-219B4.5 Clone_based_vega_gene ENSG00000258256 25 0 0 69 22 24.1758 MFHAS1 0 genome.wustl.edu 37 8 8749149 8749149 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 8749149 8749149 T C SNP MFHAS1 ENST00000276282 human ensembl 74_37 -1 known missense c.1420 p.I474V 0.997 superfamily_P-loop_NTPase pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_typical-subtyp - no_errors MFHAS1 HGNC ENSG00000147324 96 0 0 144 49 25.3886 CNGB3 0 genome.wustl.edu 37 8 87591466 87591466 + Missense_Mutation SNP C C G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 87591466 87591466 C G SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.1796 p.G599A 0.983 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 CNGB3 HGNC ENSG00000170289 258 0 0 349 134 27.7433 RIPK2 0 genome.wustl.edu 37 8 90784971 90784971 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 90784971 90784971 A G SNP RIPK2 ENST00000220751 human ensembl 74_37 +1 known silent c.768 p.P256 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,pirsf_Rcpt-int_Ser/Thr_kinase-2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CARD,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_CARD,pfscan_Prot_kinase_dom - no_errors RIPK2 HGNC ENSG00000104312 71 0 0 134 39 22.5434 CDH17 0 genome.wustl.edu 37 8 95142918 95142918 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 95142918 95142918 G T SNP CDH17 ENST00000027335 human ensembl 74_37 -1 known missense c.2334 p.H778Q 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH17 HGNC ENSG00000079112 38 0 0 43 14 24.5614 RAD54B 0 genome.wustl.edu 37 8 95384421 95384421 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 95384421 95384421 T C SNP RAD54B ENST00000336148 human ensembl 74_37 -1 known missense c.2710 p.T904A 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54B HGNC ENSG00000197275 50 0 0 48 21 30.4348 DPY19L4 0 genome.wustl.edu 37 8 95800209 95800209 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 95800209 95800209 G A SNP DPY19L4 ENST00000414645 human ensembl 74_37 +1 known missense c.1936 p.A646T 0.993 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L4 HGNC ENSG00000156162 110 0 0 111 41 26.9737 SNORA72 0 genome.wustl.edu 37 8 99054391 99054391 + RNA SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 99054391 99054391 G A SNP SNORA72 ENST00000384339 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORA72 HGNC ENSG00000207067 60 0 0 94 36 27.6923 POP1 0 genome.wustl.edu 37 8 99170251 99170251 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 99170251 99170251 C A SNP POP1 ENST00000349693 human ensembl 74_37 +1 known missense c.2827 p.L943M 0.016 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 174 0 0 251 76 23.2416 KCNS2 0 genome.wustl.edu 37 8 99440298 99440298 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 99440298 99440298 C T SNP KCNS2 ENST00000287042 human ensembl 74_37 +1 known missense c.91 p.R31C 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 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 27 0 0 38 15 28.3019 CCDC180 0 genome.wustl.edu 37 9 100077196 100077196 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 100077196 100077196 G A SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known missense c.895 p.E299K 0.566 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 134 0 0 89 50 35.9712 SLC44A1 0 genome.wustl.edu 37 9 108097858 108097858 + Nonsense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 108097858 108097858 T A SNP SLC44A1 ENST00000374720 human ensembl 74_37 +1 known nonsense c.284 p.L95* 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A1 HGNC ENSG00000070214 165 0 0 179 74 29.249 ZNF462 0 genome.wustl.edu 37 9 109690181 109690181 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 109690181 109690181 C T SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.3988 p.H1330Y 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 124 0 0 100 78 43.8202 EPB41L4B 0 genome.wustl.edu 37 9 111956600 111956600 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 111956600 111956600 G A SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known missense c.2123 p.A708V 0.003 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4B HGNC ENSG00000095203 136 0 0 119 79 39.899 PALM2 0 genome.wustl.edu 37 9 112705214 112705214 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 112705214 112705214 C T SNP PALM2 ENST00000448454 human ensembl 74_37 +1 known missense c.751 p.H251Y 0.452 pfam_Paralemmin pfam_Paralemmin - no_errors PALM2 HGNC ENSG00000243444 74 0 0 63 39 38.2353 KIAA1958 0 genome.wustl.edu 37 9 115337189 115337189 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 115337189 115337189 T C SNP KIAA1958 ENST00000536272 human ensembl 74_37 +1 known missense c.829 p.S277P 1.000 NULL pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC ENSG00000165185 371 0 0 492 38 7.16981 PRPF4 0 genome.wustl.edu 37 9 116053805 116053805 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 116053805 116053805 G A SNP PRPF4 ENST00000374198 human ensembl 74_37 +1 known silent c.1434 p.T478 0.972 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep 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 121 0 0 96 60 38.4615 HDHD3 0 genome.wustl.edu 37 9 116136584 116136584 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 116136584 116136584 C T SNP HDHD3 ENST00000238379 human ensembl 74_37 -1 known silent c.51 p.T17 0.556 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_hydro_IA_REG-2-like pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_hydro_IA_REG-2-like,tigrfam_HAD-SF_hydro_IA - no_errors HDHD3 HGNC ENSG00000119431 24 0 0 24 12 33.3333 C5 0 genome.wustl.edu 37 9 123776151 123776151 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 123776151 123776151 G A SNP C5 ENST00000223642 human ensembl 74_37 -1 known missense c.2257 p.H753Y 0.454 NULL 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 152 0 0 133 65 32.8283 LHX6 0 genome.wustl.edu 37 9 124979348 124979348 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 124979348 124979348 G A SNP LHX6 ENST00000394319 human ensembl 74_37 -1 known silent c.681 p.N227 0.993 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX6 HGNC ENSG00000106852 102 0 0 84 33 28.2051 ZBTB26 0 genome.wustl.edu 37 9 125681320 125681320 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 125681320 125681320 A G SNP ZBTB26 ENST00000373654 human ensembl 74_37 -1 known silent c.894 p.F298 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_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 ZBTB26 HGNC ENSG00000171448 165 1 0.60241 221 14 5.95745 LHX2 0 genome.wustl.edu 37 9 126794732 126794732 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 126794732 126794732 C T SNP LHX2 ENST00000373615 human ensembl 74_37 +1 known missense c.967 p.R323C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX2 HGNC ENSG00000106689 109 0 0 91 44 32.5926 NAIF1 0 genome.wustl.edu 37 9 130825856 130825856 + Nonsense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 130825856 130825856 G A SNP NAIF1 ENST00000373078 human ensembl 74_37 -1 known nonsense c.835 p.Q279* 1.000 NULL NULL - no_errors NAIF1 HGNC ENSG00000171169 54 0 0 69 43 38.3929 PTGES2 0 genome.wustl.edu 37 9 130884681 130884681 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 130884681 130884681 C T SNP PTGES2 ENST00000338961 human ensembl 74_37 -1 known missense c.965 p.R322Q 1.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutaredoxin,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors PTGES2 HGNC ENSG00000148334 137 0 0 98 67 40.6061 GOLGA2 0 genome.wustl.edu 37 9 131020067 131020067 + Splice_Site SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 131020067 131020067 A G SNP GOLGA2 ENST00000421699 human ensembl 74_37 -1 known splice_site c.2530+2 e23+2 1.000 - - - no_errors GOLGA2 HGNC ENSG00000167110 630 0 0 445 227 33.7798 PHYHD1 0 genome.wustl.edu 37 9 131700075 131700075 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 131700075 131700075 G A SNP PHYHD1 ENST00000412476 human ensembl 74_37 +1 known missense c.475 p.G159S 0.073 NULL pfam_Phytyl_CoA_dOase - no_errors PHYHD1 HGNC ENSG00000175287 51 0 0 61 33 35.1064 TOR1A 0 genome.wustl.edu 37 9 132580879 132580879 + Missense_Mutation SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 132580879 132580879 C A SNP TOR1A ENST00000351698 human ensembl 74_37 -1 known missense c.668 p.R223M 0.844 superfamily_P-loop_NTPase,pirsf_Torsin_subgr pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr - no_errors TOR1A HGNC ENSG00000136827 180 0 0 162 82 33.6066 LAMC3 0 genome.wustl.edu 37 9 133911697 133911697 + Silent SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 133911697 133911697 C A SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known silent c.954 p.A318 0.006 smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,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 LAMC3 HGNC ENSG00000050555 58 0 0 50 37 42.5287 PPAPDC3 0 genome.wustl.edu 37 9 134165682 134165682 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 134165682 134165682 G A SNP PPAPDC3 ENST00000372264 human ensembl 74_37 +1 known missense c.298 p.A100T 0.995 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC3 HGNC ENSG00000160539 122 0 0 104 56 35 SETX 0 genome.wustl.edu 37 9 135202213 135202213 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 135202213 135202213 G T SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.4772 p.P1591H 0.025 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 180 0 0 161 60 27.1493 SETX 0 genome.wustl.edu 37 9 135203957 135203957 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 135203957 135203957 G A SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.3028 p.R1010C 0.000 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 191 0 0 172 89 34.0996 BARHL1 0 genome.wustl.edu 37 9 135462862 135462862 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 135462862 135462862 G A SNP BARHL1 ENST00000263610 human ensembl 74_37 +1 known missense c.613 p.V205M 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors BARHL1 HGNC ENSG00000125492 19 0 0 22 6 21.4286 ABO 0 genome.wustl.edu 37 9 136137554 136137554 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 136137554 136137554 C T SNP ABO ENST00000453660 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ABO HGNC ENSG00000175164 24 0 0 22 11 33.3333 SARDH 0 genome.wustl.edu 37 9 136596526 136596526 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 136596526 136596526 G A SNP SARDH ENST00000371872 human ensembl 74_37 -1 known silent c.591 p.D197 0.068 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 90 0 0 84 39 31.7073 COL5A1 0 genome.wustl.edu 37 9 137717721 137717721 + Missense_Mutation SNP T T A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 137717721 137717721 T A SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.5038 p.C1680S 1.000 pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 71 0 0 47 27 36.4865 C9orf116 0 genome.wustl.edu 37 9 138387441 138387441 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 138387441 138387441 C T SNP C9orf116 ENST00000429260 human ensembl 74_37 -1 known silent c.243 p.S81 0.000 NULL NULL - no_errors C9orf116 HGNC ENSG00000160345 63 0 0 61 34 35.7895 OBP2A 0 genome.wustl.edu 37 9 138440623 138440623 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 138440623 138440623 C T SNP OBP2A ENST00000340780 human ensembl 74_37 +1 known missense c.523 p.R175W 0.000 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland - no_errors OBP2A HGNC ENSG00000122136 119 0 0 88 43 32.8244 SNAPC4 0 genome.wustl.edu 37 9 139288730 139288730 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 139288730 139288730 C T SNP SNAPC4 ENST00000298532 human ensembl 74_37 -1 known silent c.603 p.L201 1.000 smart_SANT/Myb pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 191 1 0.520833 122 76 38.3838 NOTCH1 0 genome.wustl.edu 37 9 139395128 139395128 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 139395128 139395128 C T SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.5810 p.R1937H 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_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 262 0 0 237 144 37.7953 NOTCH1 0 genome.wustl.edu 37 9 139412608 139412608 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 139412608 139412608 G A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known silent c.1236 p.D412 0.990 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_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 11 0 0 14 6 30 MAMDC4 0 genome.wustl.edu 37 9 139749902 139749902 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 139749902 139749902 G A SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known silent c.1302 p.P434 0.000 NULL pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 22 0 0 16 13 44.8276 ENTPD8 0 genome.wustl.edu 37 9 140331377 140331377 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 140331377 140331377 C T SNP ENTPD8 ENST00000371506 human ensembl 74_37 -1 known missense c.499 p.A167T 0.953 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD8 HGNC ENSG00000188833 123 0 0 132 54 29.0323 ENTPD8 0 genome.wustl.edu 37 9 140331675 140331675 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 140331675 140331675 G T SNP ENTPD8 ENST00000371506 human ensembl 74_37 -1 known missense c.331 p.P111T 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD8 HGNC ENSG00000188833 73 0 0 70 24 25.5319 ZMYND19 0 genome.wustl.edu 37 9 140481464 140481464 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 140481464 140481464 G A SNP ZMYND19 ENST00000298585 human ensembl 74_37 -1 known missense c.314 p.P105L 0.995 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND19 HGNC ENSG00000165724 71 0 0 52 36 40.9091 SMARCA2 0 genome.wustl.edu 37 9 2123850 2123850 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 2123850 2123850 A G SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known silent c.3894 p.E1298 0.571 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 19 0 0 19 9 32.1429 CDKN2A 0 genome.wustl.edu 37 9 21971106 21971106 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 21971106 21971106 G A SNP CDKN2A ENST00000361570 human ensembl 74_37 -1 known missense c.418 p.R140C 1.000 NULL pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC ENSG00000147889 23 0 0 42 20 32.2581 DMRTA1 0 genome.wustl.edu 37 9 22447574 22447574 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 22447574 22447574 T C SNP DMRTA1 ENST00000325870 human ensembl 74_37 +1 known silent c.510 p.G170 0.001 NULL pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTA1 HGNC ENSG00000176399 8 0 0 14 4 22.2222 LRRC19 0 genome.wustl.edu 37 9 26995768 26995768 + Silent SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 26995768 26995768 A G SNP LRRC19 ENST00000380055 human ensembl 74_37 -1 known silent c.864 p.F288 0.975 NULL smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC19 HGNC ENSG00000184434 109 0 0 96 61 38.8535 PTENP1 0 genome.wustl.edu 37 9 33675400 33675400 + RNA SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 33675400 33675400 G A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 20 0 0 39 6 13.3333 KIF24 0 genome.wustl.edu 37 9 34297077 34297077 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 34297077 34297077 C T SNP KIF24 ENST00000379166 human ensembl 74_37 -1 known silent c.849 p.A283 0.077 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 14 0 0 15 4 21.0526 KIAA1161 0 genome.wustl.edu 37 9 34371197 34371197 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 34371197 34371197 G A SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known missense c.1643 p.A548V 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 14 0 0 21 7 25 IL11RA 0 genome.wustl.edu 37 9 34658640 34658640 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 34658640 34658640 G A SNP IL11RA ENST00000318041 human ensembl 74_37 +1 known missense c.770 p.R257H 0.997 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IL11RA HGNC ENSG00000137070 123 0 0 105 74 41.3408 UNC13B 0 genome.wustl.edu 37 9 35380612 35380612 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 35380612 35380612 G A SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.2104 p.E702K 1.000 superfamily_C2_dom,smart_C2_dom 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 156 0 0 124 64 34.0426 UNC13B 0 genome.wustl.edu 37 9 35381108 35381108 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 35381108 35381108 G T SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.2140 p.D714Y 1.000 superfamily_C2_dom 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 43 0 0 38 18 32.1429 CCDC107 0 genome.wustl.edu 37 9 35661184 35661184 + Nonstop_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 35661184 35661184 A G SNP CCDC107 ENST00000426546 human ensembl 74_37 +1 known nonstop c.852 p.*284W 0.575 NULL NULL - no_errors CCDC107 HGNC ENSG00000159884 56 0 0 58 5 7.93651 CLTA 0 genome.wustl.edu 37 9 36199078 36199078 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 36199078 36199078 C T SNP CLTA ENST00000464497 human ensembl 74_37 +1 known missense c.358 p.R120C 1.000 pfam_Clathrin_L-chain pfam_Clathrin_L-chain - no_errors CLTA HGNC ENSG00000122705 248 0 0 179 97 35.1449 GNE 0 genome.wustl.edu 37 9 36249330 36249330 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 36249330 36249330 C T SNP GNE ENST00000396594 human ensembl 74_37 -1 known missense c.116 p.R39Q 0.990 NULL pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase - no_errors GNE HGNC ENSG00000159921 187 0 0 140 76 35.1852 MELK 0 genome.wustl.edu 37 9 36589562 36589562 + Silent SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 36589562 36589562 T C SNP MELK ENST00000298048 human ensembl 74_37 +1 known silent c.174 p.I58 0.675 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 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,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 MELK HGNC ENSG00000165304 172 0 0 149 110 42.471 GRHPR 0 genome.wustl.edu 37 9 37436814 37436814 + RNA SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 37436814 37436814 C T SNP GRHPR ENST00000460882 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GRHPR HGNC ENSG00000137106 159 0 0 126 94 42.7273 ZBTB5 0 genome.wustl.edu 37 9 37441103 37441103 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 37441103 37441103 C T SNP ZBTB5 ENST00000307750 human ensembl 74_37 -1 known missense c.1446 p.M482I 1.000 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 ZBTB5 HGNC ENSG00000168795 43 0 0 37 20 35.0877 ZBTB5 0 genome.wustl.edu 37 9 37441822 37441822 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 37441822 37441822 T C SNP ZBTB5 ENST00000307750 human ensembl 74_37 -1 known missense c.727 p.N243D 0.998 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 ZBTB5 HGNC ENSG00000168795 178 0 0 114 81 41.5385 EXOSC3 0 genome.wustl.edu 37 9 37784757 37784757 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 37784757 37784757 G A SNP EXOSC3 ENST00000327304 human ensembl 74_37 -1 known silent c.285 p.S95 0.993 NULL NULL - no_errors EXOSC3 HGNC ENSG00000107371 10 0 0 20 7 25.9259 RANBP6 0 genome.wustl.edu 37 9 6014994 6014994 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 6014994 6014994 G A SNP RANBP6 ENST00000259569 human ensembl 74_37 -1 known missense c.614 p.A205V 0.995 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 126 0 0 104 63 37.7246 GLDC 0 genome.wustl.edu 37 9 6645245 6645245 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 6645245 6645245 C T SNP GLDC ENST00000321612 human ensembl 74_37 -1 known silent c.255 p.A85 1.000 pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo - no_errors GLDC HGNC ENSG00000178445 11 0 0 17 7 29.1667 PGM5 0 genome.wustl.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 70993145 70993145 A G SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.292 p.I98V 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 78 0 0 105 20 16 KANK1 0 genome.wustl.edu 37 9 711872 711872 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 711872 711872 A G SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known missense c.1106 p.Q369R 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 76 0 0 71 19 21.1111 APBA1 0 genome.wustl.edu 37 9 72056032 72056032 + Splice_Site SNP C C A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 72056032 72056032 C A SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known splice_site c.2182-1 e10-1 1.000 - - - no_errors APBA1 HGNC ENSG00000107282 87 0 0 74 46 38.3333 TMEM261 0 genome.wustl.edu 37 9 7799532 7799532 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 7799532 7799532 A G SNP TMEM261 ENST00000358227 human ensembl 74_37 -1 known missense c.203 p.V68A 0.188 NULL NULL - no_errors TMEM261 HGNC ENSG00000137038 81 0 0 88 20 18.5185 GNA14 0 genome.wustl.edu 37 9 80046287 80046287 + Silent SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 80046287 80046287 G T SNP GNA14 ENST00000341700 human ensembl 74_37 -1 known silent c.543 p.P181 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_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_Q - no_errors GNA14 HGNC ENSG00000156049 100 0 0 86 53 38.1295 SLC28A3 0 genome.wustl.edu 37 9 86924587 86924587 + Silent SNP T T G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 86924587 86924587 T G SNP SLC28A3 ENST00000376238 human ensembl 74_37 -1 known silent c.199 p.R67 0.001 NULL pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A3 HGNC ENSG00000197506 231 0 0 202 126 38.4146 DAPK1 0 genome.wustl.edu 37 9 90283523 90283523 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 90283523 90283523 G A SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known silent c.1935 p.T645 0.543 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 306 1 0.325733 233 110 32.07 SPATA31C1 0 genome.wustl.edu 37 9 90535683 90535683 + RNA SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 90535683 90535683 T C SNP SPATA31C1 ENST00000602681 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31C1 HGNC ENSG00000230246 146 0 0 131 59 31.0526 CDK20 0 genome.wustl.edu 37 9 90589317 90589317 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 90589317 90589317 G A SNP CDK20 ENST00000325303 human ensembl 74_37 -1 known silent c.45 p.H15 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 CDK20 HGNC ENSG00000156345 55 0 0 54 21 28 S1PR3 0 genome.wustl.edu 37 9 91617003 91617003 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 91617003 91617003 C T SNP S1PR3 ENST00000358157 human ensembl 74_37 +1 known silent c.888 p.V296 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG3_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_EDG1_rcpt,prints_Cnbnoid_rcpt - no_errors S1PR3 HGNC ENSG00000213694 50 0 0 37 23 38.3333 SEMA4D 0 genome.wustl.edu 37 9 91994223 91994223 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 91994223 91994223 T C SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known missense c.1985 p.Q662R 0.019 NULL pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,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 SEMA4D HGNC ENSG00000187764 289 0 0 219 125 36.3372 NOL8 0 genome.wustl.edu 37 9 95077286 95077286 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 95077286 95077286 G T SNP NOL8 ENST00000442668 human ensembl 74_37 -1 known missense c.1621 p.P541T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 104 0 0 73 34 31.7757 BICD2 0 genome.wustl.edu 37 9 95482718 95482718 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 95482718 95482718 G A SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known missense c.926 p.A309V 0.984 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 52 0 0 58 40 40.8163 FGD3 0 genome.wustl.edu 37 9 95780428 95780428 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 95780428 95780428 T C SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known missense c.1286 p.I429T 0.002 pfam_Pleckstrin_homology,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 110 0 0 110 7 5.98291 GLA 0 genome.wustl.edu 37 X 100653412 100653412 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 100653412 100653412 G A SNP GLA ENST00000218516 human ensembl 74_37 -1 known silent c.945 p.D315 0.998 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors GLA HGNC ENSG00000102393 166 0 0 98 114 53.7736 ESX1 0 genome.wustl.edu 37 X 103495304 103495304 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 103495304 103495304 C T SNP ESX1 ENST00000372588 human ensembl 74_37 -1 known missense c.826 p.V276M 0.002 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU - no_errors ESX1 HGNC ENSG00000123576 77 0 0 64 7 9.85915 IL1RAPL2 0 genome.wustl.edu 37 X 104999178 104999178 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 104999178 104999178 G T SNP IL1RAPL2 ENST00000344799 human ensembl 74_37 +1 known missense c.1200 p.K400N 0.998 superfamily_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ - no_errors IL1RAPL2 HGNC ENSG00000189108 60 0 0 22 54 71.0526 CXorf57 0 genome.wustl.edu 37 X 105905498 105905498 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 105905498 105905498 C T SNP CXorf57 ENST00000372548 human ensembl 74_37 +1 known silent c.2232 p.S744 0.525 NULL superfamily_NA-bd_OB-fold - no_errors CXorf57 HGNC ENSG00000147231 78 0 0 30 71 70.297 TSC22D3 0 genome.wustl.edu 37 X 106960004 106960004 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 106960004 106960004 G A SNP TSC22D3 ENST00000372397 human ensembl 74_37 -1 known missense c.38 p.A13V 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D3 HGNC ENSG00000157514 56 0 0 19 50 72.4638 VSIG1 0 genome.wustl.edu 37 X 107319359 107319359 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 107319359 107319359 C T SNP VSIG1 ENST00000415430 human ensembl 74_37 +1 known silent c.849 p.A283 0.008 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG1 HGNC ENSG00000101842 112 0 0 54 124 69.6629 HTR2C 0 genome.wustl.edu 37 X 114141262 114141262 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 114141262 114141262 G A SNP HTR2C ENST00000276198 human ensembl 74_37 +1 known missense c.661 p.V221I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 359 0 0 110 277 71.5762 IL13RA2 0 genome.wustl.edu 37 X 114249138 114249138 + Splice_Site SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 114249138 114249138 C T SNP IL13RA2 ENST00000243213 human ensembl 74_37 -1 known splice_site c.247-1 e3-1 1.000 - - - no_errors IL13RA2 HGNC ENSG00000123496 45 0 0 73 5 6.41026 SPANXC 0 genome.wustl.edu 37 X 140336551 140336551 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 140336551 140336551 C T SNP SPANXC ENST00000358993 human ensembl 74_37 -1 known missense c.40 p.V14I 0.005 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXC HGNC ENSG00000198573 126 0 0 45 95 67.8571 MAGEA4 0 genome.wustl.edu 37 X 151092878 151092878 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 151092878 151092878 A G SNP MAGEA4 ENST00000276344 human ensembl 74_37 +1 known missense c.742 p.T248A 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA4 HGNC ENSG00000147381 114 0 0 44 112 71.7949 PNMA3 0 genome.wustl.edu 37 X 152226568 152226568 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 152226568 152226568 C T SNP PNMA3 ENST00000370264 human ensembl 74_37 +1 known missense c.1156 p.R386W 0.002 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PNMA3 HGNC ENSG00000183837 52 0 0 22 44 66.6667 FLNA 0 genome.wustl.edu 37 X 153583313 153583313 + Missense_Mutation SNP G G T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 153583313 153583313 G T SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.5097 p.D1699E 0.865 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 FLNA HGNC ENSG00000196924 50 0 0 20 31 60.7843 MPP1 0 genome.wustl.edu 37 X 154020457 154020457 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 154020457 154020457 A G SNP MPP1 ENST00000369534 human ensembl 74_37 -1 known missense c.206 p.V69A 1.000 superfamily_PDZ pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP1 HGNC ENSG00000130830 80 0 0 110 10 8.33333 ASMTL 0 genome.wustl.edu 37 X 1561150 1561150 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 1561150 1561150 C T SNP ASMTL ENST00000381317 human ensembl 74_37 -1 known missense c.154 p.A52T 0.378 pfam_Maf,tigrfam_Maf pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 188 0 0 48 60 55.5556 SH3KBP1 0 genome.wustl.edu 37 X 19705767 19705767 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 19705767 19705767 G A SNP SH3KBP1 ENST00000379697 human ensembl 74_37 -1 known missense c.620 p.P207L 1.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 121 0 0 44 103 70.068 DHRSX 0 genome.wustl.edu 37 X 2343345 2343345 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 2343345 2343345 A G SNP DHRSX ENST00000334651 human ensembl 74_37 -1 known missense c.110 p.V37A 0.110 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRSX HGNC ENSG00000169084 106 0 0 65 4 5.7971 DCAF8L1 0 genome.wustl.edu 37 X 27999203 27999203 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 27999203 27999203 G A SNP DCAF8L1 ENST00000441525 human ensembl 74_37 -1 known silent c.249 p.S83 0.581 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L1 HGNC ENSG00000226372 121 0 0 132 11 7.69231 MXRA5 0 genome.wustl.edu 37 X 3248316 3248316 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 3248316 3248316 G A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.452 p.T151M 0.007 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,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 MXRA5 HGNC ENSG00000101825 35 0 0 8 18 69.2308 FAM47A 0 genome.wustl.edu 37 X 34150286 34150286 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 34150286 34150286 C T SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known missense c.110 p.R37H 0.000 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 45 0 0 24 53 68.8312 TMEM47 0 genome.wustl.edu 37 X 34657419 34657419 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 34657419 34657419 G A SNP TMEM47 ENST00000275954 human ensembl 74_37 -1 known silent c.312 p.C104 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors TMEM47 HGNC ENSG00000147027 11 0 0 1 5 83.3333 BCOR 0 genome.wustl.edu 37 X 39931850 39931850 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 39931850 39931850 T C SNP BCOR ENST00000378444 human ensembl 74_37 -1 known missense c.2749 p.T917A 0.947 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 51 0 0 22 47 68.1159 ARAF 0 genome.wustl.edu 37 X 47430395 47430395 + Missense_Mutation SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 47430395 47430395 G A SNP ARAF ENST00000377045 human ensembl 74_37 +1 known missense c.1670 p.R557Q 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_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors ARAF HGNC ENSG00000078061 13 0 0 4 18 81.8182 SLC38A5 0 genome.wustl.edu 37 X 48319469 48319469 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 48319469 48319469 G A SNP SLC38A5 ENST00000317669 human ensembl 74_37 -1 known silent c.855 p.P285 0.990 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A5 HGNC ENSG00000017483 17 0 0 10 10 50 TBC1D25 0 genome.wustl.edu 37 X 48417659 48417659 + Silent SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 48417659 48417659 C T SNP TBC1D25 ENST00000376771 human ensembl 74_37 +1 known silent c.630 p.H210 0.493 superfamily_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 TBC1D25 HGNC ENSG00000068354 15 0 0 4 11 73.3333 KDM5C 0 genome.wustl.edu 37 X 53226001 53226001 + Missense_Mutation SNP T T C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 53226001 53226001 T C SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.2848 p.M950V 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 18 0 0 10 16 61.5385 KDM5C 0 genome.wustl.edu 37 X 53230892 53230892 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 53230892 53230892 C T SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.1901 p.R634H 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 35 0 0 14 44 75.8621 SMC1A 0 genome.wustl.edu 37 X 53440338 53440338 + Missense_Mutation SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 53440338 53440338 A G SNP SMC1A ENST00000463684 human ensembl 74_37 -1 known missense c.157 p.S53P 0.999 NULL pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase - no_errors SMC1A HGNC ENSG00000072501 43 0 0 27 49 64.4737 WNK3 0 genome.wustl.edu 37 X 54359575 54359575 + Missense_Mutation SNP G G C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 54359575 54359575 G C SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known missense c.532 p.L178V 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 - no_errors WNK3 HGNC ENSG00000196632 132 0 0 52 138 72.6316 FOXR2 0 genome.wustl.edu 37 X 55650330 55650330 + Silent SNP G G A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 55650330 55650330 G A SNP FOXR2 ENST00000339140 human ensembl 74_37 +1 known silent c.186 p.K62 0.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXR2 HGNC ENSG00000189299 61 0 0 16 34 68 AWAT2 0 genome.wustl.edu 37 X 69261725 69261725 + Missense_Mutation SNP C C T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 69261725 69261725 C T SNP AWAT2 ENST00000276101 human ensembl 74_37 -1 known missense c.935 p.R312H 0.000 pfam_DAGAT pfam_DAGAT - no_errors AWAT2 HGNC ENSG00000147160 57 0 0 20 48 70.5882 XIST 0 genome.wustl.edu 37 X 73066772 73066772 + RNA SNP A A G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 73066772 73066772 A G SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors XIST HGNC ENSG00000229807 24 0 0 9 16 64 CASZ1 0 genome.wustl.edu 37 1 10719758 10719759 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 10719758 10719759 - T INS CASZ1 ENST00000377022 human ensembl 74_37 -1 known frame_shift_ins c.1341_1340 p.N448fs 1.000:1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 111 0 0 71 9 11.25 SLC16A4 0 genome.wustl.edu 37 1 110906426 110906427 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 110906426 110906427 - A INS SLC16A4 ENST00000369779 human ensembl 74_37 -1 known frame_shift_ins c.1426_1425 p.V475fs 0.998:0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 185 0 0 160 66 29.2035 PHGDH 0 genome.wustl.edu 37 1 120263777 120263778 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 120263777 120263778 - T INS PHGDH ENST00000369407 human ensembl 74_37 +1 known frame_shift_ins c.21_22 p.L9fs 0.001:0.132 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,tigrfam_D-3-Phosphoglycerate_DH - no_errors PHGDH HGNC ENSG00000092621 169 0 0 176 65 26.971 VWA1 0 genome.wustl.edu 37 1 1372689 1372689 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 1372689 1372689 C - DEL VWA1 ENST00000476993 human ensembl 74_37 +1 known frame_shift_del c.456 p.M155fs 0.512 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors VWA1 HGNC ENSG00000179403 23 0 0 15 6 28.5714 NBPF9 0 genome.wustl.edu 37 1 144828718 144828719 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 144828718 144828719 - T INS NBPF9 ENST00000281815 human ensembl 74_37 +1 known frame_shift_ins c.558_559 p.T188fs 0.004:0.005 NULL pfam_NBPF_dom - no_errors NBPF9 HGNC ENSG00000168614 664 0 0 753 107 12.4419 ITGA10 0 genome.wustl.edu 37 1 145527998 145527998 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 145527998 145527998 G - DEL ITGA10 ENST00000369304 human ensembl 74_37 +1 known frame_shift_del c.235 p.A81fs 1.000 smart_Int_alpha_beta-p 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 ITGA10 HGNC ENSG00000143127 8 0 0 8 4 33.3333 MTMR11 0 genome.wustl.edu 37 1 149900986 149900989 + RNA DEL AAAA AAAA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 149900986 149900989 AAAA - DEL MTMR11 ENST00000466496 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.002:0.003:0.001 - - - no_errors MTMR11 HGNC ENSG00000014914 88 0 0 117 22 15.8273 VPS45 0 genome.wustl.edu 37 1 150082514 150082514 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 150082514 150082514 A - DEL VPS45 ENST00000484306 human ensembl 74_37 +1 known rna NULL NULL 0.965 - - - no_errors VPS45 HGNC ENSG00000136631 19 0 0 16 8 33.3333 CTSK 0 genome.wustl.edu 37 1 150778663 150778663 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 150778663 150778663 T - DEL CTSK ENST00000271651 human ensembl 74_37 -1 known frame_shift_del c.158 p.N53fs 1.000 pfam_Prot_inhib_I29,smart_Prot_inhib_I29 pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,pfam_Peptidase_C1B,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSK HGNC ENSG00000143387 34 0 0 36 19 34.5455 ARNT 0 genome.wustl.edu 37 1 150789283 150789283 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 150789283 150789283 G - DEL ARNT ENST00000358595 human ensembl 74_37 -1 known frame_shift_del c.1783 p.R595fs 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,tigrfam_PAS - no_errors ARNT HGNC ENSG00000143437 163 0 0 161 42 20.6897 SLC27A3 0 genome.wustl.edu 37 1 153751860 153751860 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 153751860 153751860 C - DEL SLC27A3 ENST00000368661 human ensembl 74_37 +1 known frame_shift_del c.1927 p.H645fs 0.247 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC ENSG00000143554 130 0 0 112 38 25.3333 NUP210L 0 genome.wustl.edu 37 1 154067526 154067526 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 154067526 154067526 A - DEL NUP210L ENST00000368559 human ensembl 74_37 -1 known frame_shift_del c.2072 p.L691fs 0.995 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 86 0 0 66 33 33.3333 SHC1 0 genome.wustl.edu 37 1 154942911 154942911 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 154942911 154942911 G - DEL SHC1 ENST00000368445 human ensembl 74_37 -1 known frame_shift_del c.92 p.P31fs 1.000 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC1 HGNC ENSG00000160691 104 0 0 72 26 26.5306 EFNA3 0 genome.wustl.edu 37 1 155059035 155059036 + RNA INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 155059035 155059036 - G INS EFNA3 ENST00000470294 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors EFNA3 HGNC ENSG00000143590 136 1 0.729927 116 19 14.0741 ASH1L 0 genome.wustl.edu 37 1 155308000 155308000 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 155308000 155308000 T - DEL ASH1L ENST00000368346 human ensembl 74_37 -1 known frame_shift_del c.8698 p.T2900fs 0.002 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 254 0 0 238 101 29.7935 ASH1L 0 genome.wustl.edu 37 1 155448019 155448019 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 155448019 155448019 T - DEL ASH1L ENST00000368346 human ensembl 74_37 -1 known frame_shift_del c.4642 p.S1548fs 0.975 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 179 0 0 155 55 26.1905 GON4L 0 genome.wustl.edu 37 1 155785777 155785777 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 155785777 155785777 A - DEL GON4L ENST00000471341 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GON4L HGNC ENSG00000116580 16 0 0 6 6 50 BCAN 0 genome.wustl.edu 37 1 156627543 156627543 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 156627543 156627543 C - DEL BCAN ENST00000329117 human ensembl 74_37 +1 known frame_shift_del c.2286 p.L764fs 0.521 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 38 0 0 47 10 17.5439 CD84 0 genome.wustl.edu 37 1 160549254 160549254 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 160549254 160549254 A - DEL CD84 ENST00000368047 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CD84 HGNC ENSG00000066294 69 0 0 60 23 27.7108 DEDD 0 genome.wustl.edu 37 1 161091815 161091818 + RNA DEL AAAA AAAA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 161091815 161091818 AAAA - DEL DEDD ENST00000486041 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000:1.000 - - - no_errors DEDD HGNC ENSG00000158796 57 0 0 64 23 26.4368 ADCY10 0 genome.wustl.edu 37 1 167865906 167865906 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 167865906 167865906 G - DEL ADCY10 ENST00000367851 human ensembl 74_37 -1 known frame_shift_del c.666 p.N223fs 0.005 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 316 0 0 289 117 28.8177 BLZF1 0 genome.wustl.edu 37 1 169351458 169351458 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 169351458 169351458 A - DEL BLZF1 ENST00000329281 human ensembl 74_37 +1 known frame_shift_del c.956 p.K321fs 0.999 NULL pfam_Hsk3_like - no_errors BLZF1 HGNC ENSG00000117475 113 0 0 123 47 27.6471 PIGC 0 genome.wustl.edu 37 1 172411516 172411516 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 172411516 172411516 G - DEL PIGC ENST00000258324 human ensembl 74_37 -1 known frame_shift_del c.247 p.H83fs 0.172 pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2 pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2 - no_errors PIGC HGNC ENSG00000135845 116 1 0.854701 99 53 34.8684 SHCBP1L 0 genome.wustl.edu 37 1 182869141 182869141 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 182869141 182869141 C - DEL SHCBP1L ENST00000367547 human ensembl 74_37 -1 known frame_shift_del c.1939 p.D647fs 1.000 superfamily_Pectin_lyase_fold/virulence superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 60 0 0 73 8 9.87654 NCF2 0 genome.wustl.edu 37 1 183533129 183533129 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 183533129 183533129 A - DEL NCF2 ENST00000469280 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors NCF2 HGNC ENSG00000116701 403 0 0 329 134 28.9417 TROVE2 0 genome.wustl.edu 37 1 193053997 193053997 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 193053997 193053997 A - DEL TROVE2 ENST00000460715 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TROVE2 HGNC ENSG00000116747 21 0 0 17 9 34.6154 UBR4 0 genome.wustl.edu 37 1 19467923 19467923 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 19467923 19467923 G - DEL UBR4 ENST00000375267 human ensembl 74_37 -1 known frame_shift_del c.8406 p.M2803fs 0.484 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 127 0 0 92 31 25.2033 CFH 0 genome.wustl.edu 37 1 196642420 196642420 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 196642420 196642420 T - DEL CFH ENST00000496761 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CFH HGNC ENSG00000000971 14 0 0 16 7 30.4348 ASPM 0 genome.wustl.edu 37 1 197073232 197073232 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 197073232 197073232 T - DEL ASPM ENST00000367409 human ensembl 74_37 -1 known frame_shift_del c.5149 p.I1717fs 0.000 superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 176 0 0 203 77 27.5 NFASC 0 genome.wustl.edu 37 1 204924033 204924033 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 204924033 204924033 C - DEL NFASC ENST00000367172 human ensembl 74_37 +1 known frame_shift_del c.489 p.P165fs 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 443 0 0 414 119 22.3265 MAPKAPK2 0 genome.wustl.edu 37 1 206904644 206904645 + RNA INS - - GT TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 206904644 206904645 - GT INS MAPKAPK2 ENST00000479009 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors MAPKAPK2 HGNC ENSG00000162889 36 0 0 27 14 34.1463 CD55 0 genome.wustl.edu 37 1 207495788 207495788 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 207495788 207495788 T - DEL CD55 ENST00000314754 human ensembl 74_37 +1 known frame_shift_del c.162 p.E57fs 0.099 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 CD55 HGNC ENSG00000196352 160 0 0 140 48 25.5319 PLXNA2 0 genome.wustl.edu 37 1 208391087 208391087 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 208391087 208391087 C - DEL PLXNA2 ENST00000367033 human ensembl 74_37 -1 known frame_shift_del c.181 p.A61fs 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 209 0 0 153 48 23.8806 LAMB3 0 genome.wustl.edu 37 1 209803202 209803202 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 209803202 209803202 C - DEL LAMB3 ENST00000356082 human ensembl 74_37 -1 known frame_shift_del c.1012 p.A338fs 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_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 163 0 0 158 60 27.5229 C1orf86 0 genome.wustl.edu 37 1 2116337 2116337 + RNA DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 2116337 2116337 C - DEL C1orf86 ENST00000469733 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf86 HGNC ENSG00000162585 17 0 0 30 13 30.2326 GPATCH2 0 genome.wustl.edu 37 1 217793264 217793264 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 217793264 217793264 T - DEL GPATCH2 ENST00000366935 human ensembl 74_37 -1 known frame_shift_del c.634 p.R212fs 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC ENSG00000092978 162 0 0 127 74 36.8159 TP53BP2 0 genome.wustl.edu 37 1 223989746 223989746 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 223989746 223989746 T - DEL TP53BP2 ENST00000481128 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TP53BP2 HGNC ENSG00000143514 49 0 0 38 21 35.5932 ITPKB 0 genome.wustl.edu 37 1 226923855 226923855 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 226923855 226923855 C - DEL ITPKB ENST00000272117 human ensembl 74_37 -1 known frame_shift_del c.1305 p.R436fs 0.000 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 72 0 0 72 7 8.86076 EPHB2 0 genome.wustl.edu 37 1 23240246 23240246 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 23240246 23240246 A - DEL EPHB2 ENST00000400191 human ensembl 74_37 +1 known frame_shift_del c.3051 p.K1020fs 0.270 NULL 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,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 13 0 0 21 8 27.5862 PCNXL2 0 genome.wustl.edu 37 1 233394589 233394590 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 233394589 233394590 - C INS PCNXL2 ENST00000258229 human ensembl 74_37 -1 known frame_shift_ins c.1019_1018 p.D340fs 0.031:0.029 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 166 0 0 161 45 21.8447 ARID4B 0 genome.wustl.edu 37 1 235394506 235394507 + Splice_Site DEL TA TA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 235394506 235394507 TA - DEL ARID4B ENST00000264183 human ensembl 74_37 -1 known splice_site_del c.666-3_666-2 e9-2 0.995:0.084 - - - no_errors ARID4B HGNC ENSG00000054267 45 0 0 51 16 23.8806 ZNF124 0 genome.wustl.edu 37 1 247319909 247319909 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 247319909 247319909 T - DEL ZNF124 ENST00000543802 human ensembl 74_37 -1 known frame_shift_del c.1015 p.T339fs 0.935 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 ZNF124 HGNC ENSG00000196418 90 0 0 92 38 29.2308 OR14C36 0 genome.wustl.edu 37 1 248512384 248512384 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 248512384 248512384 T - DEL OR14C36 ENST00000317861 human ensembl 74_37 +1 known frame_shift_del c.308 p.F105fs 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14C36 HGNC ENSG00000177174 78 0 0 98 31 24.031 WDTC1 0 genome.wustl.edu 37 1 27621108 27621108 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 27621108 27621108 G - DEL WDTC1 ENST00000319394 human ensembl 74_37 +1 known frame_shift_del c.861 p.E290fs 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 66 0 0 19 29 60.4167 CSMD2 0 genome.wustl.edu 37 1 34166229 34166229 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 34166229 34166229 A - DEL CSMD2 ENST00000373381 human ensembl 74_37 -1 known frame_shift_del c.3621 p.F1207fs 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 CSMD2 HGNC ENSG00000121904 130 0 0 141 33 18.9655 ZC3H12A 0 genome.wustl.edu 37 1 37948445 37948445 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 37948445 37948445 C - DEL ZC3H12A ENST00000373087 human ensembl 74_37 +1 known frame_shift_del c.1033 p.R347fs 0.982 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 86 0 0 101 31 23.4848 MEAF6 0 genome.wustl.edu 37 1 37962171 37962171 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 37962171 37962171 A - DEL MEAF6 ENST00000475828 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MEAF6 HGNC ENSG00000163875 9 0 0 8 4 33.3333 TRIT1 0 genome.wustl.edu 37 1 40312897 40312897 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 40312897 40312897 A - DEL TRIT1 ENST00000316891 human ensembl 74_37 -1 known frame_shift_del c.1001 p.L334fs 1.000 NULL pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,superfamily_P-loop_NTPase,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase - no_errors TRIT1 HGNC ENSG00000043514 74 0 0 51 29 36.25 TSPAN1 0 genome.wustl.edu 37 1 46650192 46650192 + RNA DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 46650192 46650192 G - DEL TSPAN1 ENST00000482143 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TSPAN1 HGNC ENSG00000117472 163 0 0 152 58 27.619 LRRC41 0 genome.wustl.edu 37 1 46726877 46726877 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 46726877 46726877 T - DEL LRRC41 ENST00000496156 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LRRC41 HGNC ENSG00000132128 51 0 0 43 24 35.8209 CYP4A22 0 genome.wustl.edu 37 1 47614462 47614462 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 47614462 47614462 A - DEL CYP4A22 ENST00000371891 human ensembl 74_37 +1 known frame_shift_del c.1553 p.Q518fs 0.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A22 HGNC ENSG00000162365 53 0 0 67 11 14.1026 AJAP1 0 genome.wustl.edu 37 1 4829991 4829992 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 4829991 4829992 - A INS AJAP1 ENST00000378190 human ensembl 74_37 +1 known frame_shift_ins c.908_909 p.N305fs 1.000:1.000 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 226 0 0 218 73 25.0859 BEND5 0 genome.wustl.edu 37 1 49201967 49201967 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 49201967 49201967 T - DEL BEND5 ENST00000371833 human ensembl 74_37 -1 known frame_shift_del c.1052 p.K351fs 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND5 HGNC ENSG00000162373 230 1 0.4329 190 91 32.3843 TMEM59 0 genome.wustl.edu 37 1 54502396 54502396 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 54502396 54502396 A - DEL TMEM59 ENST00000470395 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TMEM59 HGNC ENSG00000116209 24 0 0 20 9 31.0345 PRKAA2 0 genome.wustl.edu 37 1 57173341 57173341 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 57173341 57173341 T - DEL PRKAA2 ENST00000371244 human ensembl 74_37 +1 known frame_shift_del c.1614 p.F540fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA2 HGNC ENSG00000162409 228 0 0 261 116 30.7692 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 80 0 0 80 43 34.9593 ALG6 0 genome.wustl.edu 37 1 63836751 63836751 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 63836751 63836751 A - DEL ALG6 ENST00000487136 human ensembl 74_37 +1 known frame_shift_del c.103 p.T38fs 0.000 NULL NULL - no_errors ALG6 HGNC ENSG00000088035 122 0 0 99 34 25.5639 JAK1 0 genome.wustl.edu 37 1 65306997 65306997 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 65306997 65306997 T - DEL JAK1 ENST00000342505 human ensembl 74_37 -1 known frame_shift_del c.2580 p.K860fs 0.055 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,superfamily_Kinase-like_dom pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 222 1 0.44843 228 91 28.5266 JAK1 0 genome.wustl.edu 37 1 65339111 65339111 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 65339111 65339111 T - DEL JAK1 ENST00000342505 human ensembl 74_37 -1 known frame_shift_del c.425 p.K142fs 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 123 1 0.806452 90 20 18.1818 SGIP1 0 genome.wustl.edu 37 1 67099769 67099769 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 67099769 67099769 A - DEL SGIP1 ENST00000237247 human ensembl 74_37 +1 known frame_shift_del c.106 p.K38fs 0.997 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 27 0 0 17 10 37.037 LRRIQ3 0 genome.wustl.edu 37 1 74575213 74575213 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 74575213 74575213 T - DEL LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known frame_shift_del c.732 p.K244fs 0.004 pfscan_IQ_motif_EF-hand-BS pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 102 1 0.970874 108 48 30.7692 FUBP1 0 genome.wustl.edu 37 1 78426185 78426185 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 78426185 78426185 A - DEL FUBP1 ENST00000470287 human ensembl 74_37 -1 known rna NULL NULL 0.567 - - - no_errors FUBP1 HGNC ENSG00000162613 14 0 0 22 4 15.3846 RERE 0 genome.wustl.edu 37 1 8716109 8716109 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 8716109 8716109 T - DEL RERE ENST00000337907 human ensembl 74_37 -1 known frame_shift_del c.248 p.K83fs 0.999 NULL 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 640 0 0 546 257 32.005 ZNF644 0 genome.wustl.edu 37 1 91382293 91382293 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 91382293 91382293 A - DEL ZNF644 ENST00000467231 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF644 HGNC ENSG00000122482 27 0 0 39 9 18.75 ZNF644 0 genome.wustl.edu 37 1 91406040 91406040 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 91406040 91406040 T - DEL ZNF644 ENST00000337393 human ensembl 74_37 -1 known frame_shift_del c.871 p.R291fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 69 0 0 107 36 25.1748 MTF2 0 genome.wustl.edu 37 1 93602676 93602677 + RNA DEL AA AA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 93602676 93602677 AA - DEL MTF2 ENST00000467953 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.997 - - - no_errors MTF2 HGNC ENSG00000143033 20 0 0 20 6 23.0769 DPYD 0 genome.wustl.edu 37 1 97771791 97771791 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 1 97771791 97771791 A - DEL DPYD ENST00000370192 human ensembl 74_37 -1 known frame_shift_del c.2121 p.F707fs 1.000 pfam_Dihydroorotate_DH_1_2,pfam_tRNA_hU_synthase,tigrfam_Dihydroorotate_DH pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 290 0 0 283 122 30.1235 CWF19L1 0 genome.wustl.edu 37 10 101992924 101992927 + RNA DEL AAAA AAAA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 101992924 101992927 AAAA - DEL CWF19L1 ENST00000468709 human ensembl 74_37 -1 known rna NULL NULL 0.167:0.180:0.200:0.203 - - - no_errors CWF19L1 HGNC ENSG00000095485 96 0 0 88 57 39.3103 TLX1 0 genome.wustl.edu 37 10 102893955 102893955 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 102893955 102893955 C - DEL TLX1 ENST00000370196 human ensembl 74_37 +1 known frame_shift_del c.592 p.K200fs 1.000 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors TLX1 HGNC ENSG00000107807 18 0 0 14 7 33.3333 BTRC 0 genome.wustl.edu 37 10 103310573 103310573 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 103310573 103310573 C - DEL BTRC ENST00000370187 human ensembl 74_37 +1 known frame_shift_del c.1774 p.R594fs 1.000 NULL pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors BTRC HGNC ENSG00000166167 151 0 0 147 54 26.8657 PPRC1 0 genome.wustl.edu 37 10 103904107 103904109 + RNA DEL CAG CAG - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 103904107 103904109 CAG - DEL PPRC1 ENST00000462933 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000:1.000 - - - no_errors PPRC1 HGNC ENSG00000148840 28 0 0 33 4 10.8108 XPNPEP1 0 genome.wustl.edu 37 10 111651337 111651337 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 111651337 111651337 T - DEL XPNPEP1 ENST00000475123 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors XPNPEP1 HGNC ENSG00000108039 16 0 0 7 9 56.25 ADD3 0 genome.wustl.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 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 181 0 0 158 50 24.0385 VTI1A 0 genome.wustl.edu 37 10 114224448 114224449 + RNA INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 114224448 114224449 - T INS VTI1A ENST00000494728 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors VTI1A HGNC ENSG00000151532 26 0 0 17 4 19.0476 TCF7L2 0 genome.wustl.edu 37 10 114925316 114925317 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 114925316 114925317 - A INS TCF7L2 ENST00000355995 human ensembl 74_37 +1 known frame_shift_ins c.1445_1446 p.K486fs 1.000:1.000 NULL pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L2 HGNC ENSG00000148737 251 1 0.396825 290 78 21.1957 KIAA1598 0 genome.wustl.edu 37 10 118719757 118719757 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 118719757 118719757 A - DEL KIAA1598 ENST00000490615 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KIAA1598 HGNC ENSG00000187164 73 0 0 50 22 30.5556 TIAL1 0 genome.wustl.edu 37 10 121335157 121335157 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 121335157 121335157 T - DEL TIAL1 ENST00000463089 human ensembl 74_37 -1 known rna NULL NULL 0.987 - - - no_errors TIAL1 HGNC ENSG00000151923 279 0 0 251 91 26.6082 TACC2 0 genome.wustl.edu 37 10 123842738 123842738 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 123842738 123842738 G - DEL TACC2 ENST00000334433 human ensembl 74_37 +1 known frame_shift_del c.723 p.V243fs 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 99 0 0 84 48 36.3636 C10orf120 0 genome.wustl.edu 37 10 124457552 124457553 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 124457552 124457553 - T INS C10orf120 ENST00000329446 human ensembl 74_37 -1 known frame_shift_ins c.705_704 p.N235fs 0.003:0.000 NULL NULL - no_errors C10orf120 HGNC ENSG00000183559 78 0 0 88 24 21.4286 DOCK1 0 genome.wustl.edu 37 10 129237392 129237392 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 129237392 129237392 A - DEL DOCK1 ENST00000280333 human ensembl 74_37 +1 known frame_shift_del c.5099 p.R1702fs 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 23 0 0 15 7 31.8182 OPTN 0 genome.wustl.edu 37 10 13151192 13151192 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 13151192 13151192 C - DEL OPTN ENST00000263036 human ensembl 74_37 +1 known frame_shift_del c.70 p.H26fs 1.000 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 225 0 0 170 67 28.27 DPYSL4 0 genome.wustl.edu 37 10 134017253 134017254 + RNA INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 134017253 134017254 - C INS DPYSL4 ENST00000471544 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.005 - - - no_errors DPYSL4 HGNC ENSG00000151640 41 0 0 61 21 25.6098 DCLRE1C 0 genome.wustl.edu 37 10 14950433 14950433 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 14950433 14950433 T - DEL DCLRE1C ENST00000378278 human ensembl 74_37 -1 known frame_shift_del c.2053 p.R685fs 0.022 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 121 0 0 118 42 26.25 KIAA1217 0 genome.wustl.edu 37 10 24784015 24784017 + RNA DEL AAA AAA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 24784015 24784017 AAA - DEL KIAA1217 ENST00000460373 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.003:0.002 - - - no_errors KIAA1217 HGNC ENSG00000120549 51 0 0 49 33 40.2439 MYO3A 0 genome.wustl.edu 37 10 26457756 26457756 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 26457756 26457756 A - DEL MYO3A ENST00000265944 human ensembl 74_37 +1 known frame_shift_del c.3227 p.I1078fs 0.991 superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 117 0 0 119 44 26.9939 PTCHD3 0 genome.wustl.edu 37 10 27702951 27702951 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 27702951 27702951 G - DEL PTCHD3 ENST00000438700 human ensembl 74_37 -1 known frame_shift_del c.229 p.R77fs 0.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 58 0 0 74 12 13.9535 CEP164P1 0 genome.wustl.edu 37 10 45498706 45498706 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 45498706 45498706 T - DEL CEP164P1 ENST00000456938 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CEP164P1 HGNC ENSG00000226937 16 0 0 12 8 40 AGAP7 0 genome.wustl.edu 37 10 51465538 51465538 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 51465538 51465538 T - DEL AGAP7 ENST00000374095 human ensembl 74_37 -1 known frame_shift_del c.918 p.E307fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP7 HGNC ENSG00000204169 223 0 0 212 54 20.3008 EGR2 0 genome.wustl.edu 37 10 64573471 64573473 + In_Frame_Del DEL GGC GGC - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 64573471 64573473 GGC - DEL EGR2 ENST00000242480 human ensembl 74_37 -1 known in_frame_del c.927_925 p.A309in_frame_del 1.000:1.000:0.861 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR2 HGNC ENSG00000122877 31 0 0 36 4 10 MYPN 0 genome.wustl.edu 37 10 69926167 69926167 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 69926167 69926167 C - DEL MYPN ENST00000358913 human ensembl 74_37 +1 known frame_shift_del c.1717 p.K575fs 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 81 0 0 78 24 23.5294 DNA2 0 genome.wustl.edu 37 10 70182521 70182521 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 70182521 70182521 A - DEL DNA2 ENST00000399180 human ensembl 74_37 -1 known frame_shift_del c.2593 p.S865fs 1.000 superfamily_P-loop_NTPase pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 40 0 0 39 19 32.7586 ANXA7 0 genome.wustl.edu 37 10 75135834 75135835 + RNA DEL AA AA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 75135834 75135835 AA - DEL ANXA7 ENST00000463788 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.004 - - - no_errors ANXA7 HGNC ENSG00000138279 29 0 0 14 10 41.6667 ZSWIM8 0 genome.wustl.edu 37 10 75560546 75560546 + RNA DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 75560546 75560546 C - DEL ZSWIM8 ENST00000603195 human ensembl 74_37 +1 known rna NULL NULL 0.749 - - - no_errors ZSWIM8 HGNC ENSG00000214655 24 0 0 17 11 39.2857 NDST2 0 genome.wustl.edu 37 10 75567574 75567575 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 75567574 75567575 - A INS NDST2 ENST00000309979 human ensembl 74_37 -1 known frame_shift_ins c.573_572 p.L191fs 0.981:1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST2 HGNC ENSG00000166507 93 0 0 76 33 30.2752 PANK1 0 genome.wustl.edu 37 10 91359120 91359120 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 10 91359120 91359120 T - DEL PANK1 ENST00000307534 human ensembl 74_37 -1 known frame_shift_del c.1199 p.K400fs 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK1 HGNC ENSG00000152782 335 1 0.297619 338 132 28.0851 DYNC2H1 0 genome.wustl.edu 37 11 102984302 102984302 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 102984302 102984302 T - DEL DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known frame_shift_del c.232 p.F79fs 1.000 NULL 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 164 0 0 179 56 23.8298 NPAT 0 genome.wustl.edu 37 11 108044069 108044069 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 108044069 108044069 T - DEL NPAT ENST00000278612 human ensembl 74_37 -1 known frame_shift_del c.1642 p.S548fs 0.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 76 0 0 64 23 26.4368 CEP164 0 genome.wustl.edu 37 11 117222648 117222649 + Frame_Shift_Del DEL AA AA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 117222648 117222649 AA - DEL CEP164 ENST00000278935 human ensembl 74_37 +1 known frame_shift_del c.337_338 p.K116fs 1.000:0.998 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 45 0 0 47 16 25.3968 DDX6 0 genome.wustl.edu 37 11 118629513 118629513 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 118629513 118629513 T - DEL DDX6 ENST00000264018 human ensembl 74_37 -1 known frame_shift_del c.963 p.V322fs 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 DDX6 HGNC ENSG00000110367 105 0 0 65 38 36.8932 BCL9L 0 genome.wustl.edu 37 11 118770651 118770652 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 118770651 118770652 - G INS BCL9L ENST00000334801 human ensembl 74_37 -1 known frame_shift_ins c.3381_3380 p.P1128fs 0.988:0.996 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 52 0 0 41 15 26.7857 CCDC153 0 genome.wustl.edu 37 11 119061042 119061043 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 119061042 119061043 - G INS CCDC153 ENST00000415318 human ensembl 74_37 -1 known frame_shift_ins c.600_599 p.G201fs 1.000:1.000 NULL superfamily_t-SNARE - no_errors CCDC153 HGNC ENSG00000248712 175 0 0 179 41 18.6364 TBCEL 0 genome.wustl.edu 37 11 120930796 120930797 + Splice_Site INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 120930796 120930797 - A INS TBCEL ENST00000422003 human ensembl 74_37 +1 known splice_site_ins c.956+2_956+1 e6+2 1.000:0.988 - - - no_errors TBCEL HGNC ENSG00000154114 109 0 0 131 48 26.8156 BRSK2 0 genome.wustl.edu 37 11 1478187 1478187 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 1478187 1478187 C - DEL BRSK2 ENST00000308230 human ensembl 74_37 +1 known frame_shift_del c.2008 p.P672fs 0.998 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 BRSK2 HGNC ENSG00000174672 27 0 0 22 7 24.1379 SYT8 0 genome.wustl.edu 37 11 1857151 1857151 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 1857151 1857151 G - DEL SYT8 ENST00000381968 human ensembl 74_37 +1 known frame_shift_del c.336 p.D114fs 0.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT8 HGNC ENSG00000149043 73 0 0 55 16 22.5352 KCNA4 0 genome.wustl.edu 37 11 30033563 30033563 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 30033563 30033563 A - DEL KCNA4 ENST00000328224 human ensembl 74_37 -1 known frame_shift_del c.663 p.F221fs 0.902 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv pfam_K_chnl_volt-dep_Kv1.4_TID,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_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 125 0 0 130 42 24.4186 PAX6 0 genome.wustl.edu 37 11 31812317 31812317 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 31812317 31812317 G - DEL PAX6 ENST00000379107 human ensembl 74_37 -1 known frame_shift_del c.1166 p.P389fs 1.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 115 0 0 98 34 25.7576 ART1 0 genome.wustl.edu 37 11 3681478 3681478 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 3681478 3681478 C - DEL ART1 ENST00000250693 human ensembl 74_37 +1 known frame_shift_del c.729 p.F246fs 0.999 pfam_ART,prints_ART pfam_ART,prints_ART - no_errors ART1 HGNC ENSG00000129744 128 0 0 108 42 28 HNRNPKP3 0 genome.wustl.edu 37 11 43283606 43283607 + RNA DEL AA AA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 43283606 43283607 AA - DEL HNRNPKP3 ENST00000511537 human ensembl 74_37 -1 known rna NULL NULL 0.986:0.995 - - - no_errors HNRNPKP3 HGNC ENSG00000251557 11 0 0 10 4 28.5714 OR51E2 0 genome.wustl.edu 37 11 4703475 4703475 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 4703475 4703475 A - DEL OR51E2 ENST00000396950 human ensembl 74_37 -1 known frame_shift_del c.467 p.F156fs 0.027 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 OR51E2 HGNC ENSG00000167332 113 0 0 101 17 14.4068 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423 p.M144fs 0.001 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,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 65 0 0 65 17 20.7317 OR5M3 0 genome.wustl.edu 37 11 56237709 56237709 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 56237709 56237709 T - DEL OR5M3 ENST00000312240 human ensembl 74_37 -1 known frame_shift_del c.265 p.T89fs 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 118 0 0 146 56 27.7228 SMTNL1 0 genome.wustl.edu 37 11 57310315 57310316 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 57310315 57310316 - G INS SMTNL1 ENST00000457912 human ensembl 74_37 +1 known frame_shift_ins c.254_255 p.E87fs 0.125:0.191 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL1 HGNC ENSG00000214872 39 0 0 30 7 18.9189 OR5B3 0 genome.wustl.edu 37 11 58170465 58170466 + Frame_Shift_Del DEL CA CA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 58170465 58170466 CA - DEL OR5B3 ENST00000309403 human ensembl 74_37 -1 known frame_shift_del c.418_417 p.A140fs 0.043:0.043 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 OR5B3 HGNC ENSG00000172769 129 0 0 117 40 25.4777 ZFP91 0 genome.wustl.edu 37 11 58377809 58377810 + Splice_Site INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 58377809 58377810 - A INS ZFP91 ENST00000316059 human ensembl 74_37 +1 known splice_site_ins c.617+2_617+1 e4+2 1.000:0.968 - - - no_errors ZFP91 HGNC ENSG00000186660 94 0 0 83 29 25.8929 FAM111B 0 genome.wustl.edu 37 11 58892377 58892378 + Frame_Shift_Del DEL AA AA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 58892377 58892378 AA - DEL FAM111B ENST00000343597 human ensembl 74_37 +1 known frame_shift_del c.807_808 p.K272fs 0.000:0.000 NULL superfamily_Trypsin-like_Pept_dom - no_errors FAM111B HGNC ENSG00000189057 79 0 0 87 41 32.0312 OR4D10 0 genome.wustl.edu 37 11 59245838 59245839 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 59245838 59245839 - A INS OR4D10 ENST00000530162 human ensembl 74_37 +1 known frame_shift_ins c.936_937 p.*312fs 0.055:0.049 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D10 HGNC ENSG00000254466 33 0 0 54 16 22.8571 MYRF 0 genome.wustl.edu 37 11 61539013 61539013 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 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 234 0 0 247 87 26.0479 RTN3 0 genome.wustl.edu 37 11 63525656 63525656 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 63525656 63525656 A - DEL RTN3 ENST00000377819 human ensembl 74_37 +1 known frame_shift_del c.3082 p.K1030fs 1.000 pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 58 0 0 37 71 65.7407 GPR137 0 genome.wustl.edu 37 11 64055217 64055217 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 64055217 64055217 G - DEL GPR137 ENST00000313074 human ensembl 74_37 +1 known frame_shift_del c.432 p.A146fs 0.996 NULL NULL - no_errors GPR137 HGNC ENSG00000173264 93 0 0 75 34 31.1927 NADSYN1 0 genome.wustl.edu 37 11 71192975 71192975 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 71192975 71192975 T - DEL NADSYN1 ENST00000319023 human ensembl 74_37 +1 known frame_shift_del c.1054 p.L353fs 0.999 pfam_NAD/GMP_synthase,pirsf_Gln-dep_NAD_synthase,tigrfam_NAD_synthase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC ENSG00000172890 25 0 0 21 11 34.375 INPPL1 0 genome.wustl.edu 37 11 71948209 71948209 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 71948209 71948209 C - DEL INPPL1 ENST00000298229 human ensembl 74_37 +1 known frame_shift_del c.2921 p.P976fs 0.066 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 213 2 0.930233 189 66 25.8824 ARHGEF17 0 genome.wustl.edu 37 11 73021527 73021527 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 73021527 73021527 C - DEL ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known frame_shift_del c.1844 p.P617fs 0.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 99 0 0 97 27 21.7742 RSF1 0 genome.wustl.edu 37 11 77413116 77413116 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 77413116 77413116 T - DEL RSF1 ENST00000308488 human ensembl 74_37 -1 known frame_shift_del c.1158 p.K386fs 0.995 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 165 0 0 128 68 34.6939 NDUFC2 0 genome.wustl.edu 37 11 77784147 77784148 + Frame_Shift_Del DEL AA AA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 77784147 77784148 AA - DEL NDUFC2 ENST00000281031 human ensembl 74_37 -1 known frame_shift_del c.207_206 p.F69fs 0.809:0.834 pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su - no_errors NDUFC2 HGNC ENSG00000151366 142 0 0 170 63 27.0386 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154812 + RNA DEL AA AA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 78154811 78154812 AA - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 41 0 0 30 16 34.7826 FAT3 0 genome.wustl.edu 37 11 92258088 92258089 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 11 92258088 92258089 - T INS FAT3 ENST00000298047 human ensembl 74_37 +1 known frame_shift_ins c.3581_3582 p.A1197fs 1.000:0.992 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 67 0 0 72 20 21.7391 MVK 0 genome.wustl.edu 37 12 110019240 110019240 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 110019240 110019240 C - DEL MVK ENST00000228510 human ensembl 74_37 +1 known frame_shift_del c.412 p.A141fs 1.000 pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin - no_errors MVK HGNC ENSG00000110921 122 0 0 146 18 10.9756 TAS2R14 0 genome.wustl.edu 37 12 11091565 11091566 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 11091565 11091566 - T INS TAS2R14 ENST00000537503 human ensembl 74_37 -1 known frame_shift_ins c.242_241 p.M81fs 0.000:0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R14 HGNC ENSG00000212127 58 0 0 81 18 18.1818 TAS2R50 0 genome.wustl.edu 37 12 11139431 11139432 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 11139431 11139432 - A INS TAS2R50 ENST00000506868 human ensembl 74_37 -1 known frame_shift_ins c.29_28 p.S10fs 0.001:0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R50 HGNC ENSG00000212126 79 0 0 119 36 23.2258 CUX2 0 genome.wustl.edu 37 12 111785947 111785948 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 111785947 111785948 - C INS CUX2 ENST00000261726 human ensembl 74_37 +1 known frame_shift_ins c.4279_4280 p.A1430fs 0.993:0.996 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 130 0 0 124 49 28.3237 NOS1 0 genome.wustl.edu 37 12 117703230 117703230 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 117703230 117703230 C - DEL NOS1 ENST00000317775 human ensembl 74_37 -1 known frame_shift_del c.2027 p.G676fs 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 23 0 0 29 5 14.7059 WSB2 0 genome.wustl.edu 37 12 118481123 118481123 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 118481123 118481123 C - DEL WSB2 ENST00000315436 human ensembl 74_37 -1 known frame_shift_del c.242 p.G81fs 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WSB2 HGNC ENSG00000176871 222 0 0 203 78 27.758 HPD 0 genome.wustl.edu 37 12 122281717 122281718 + Frame_Shift_Del DEL CT CT - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 122281717 122281718 CT - DEL HPD ENST00000289004 human ensembl 74_37 -1 known frame_shift_del c.853_852 p.G285fs 1.000:0.977 pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase - no_errors HPD HGNC ENSG00000158104 98 0 0 99 34 25.5639 VPS37B 0 genome.wustl.edu 37 12 123351892 123351892 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 123351892 123351892 G - DEL VPS37B ENST00000267202 human ensembl 74_37 -1 known frame_shift_del c.629 p.P210fs 0.609 NULL pfam_Mod_r - no_errors VPS37B HGNC ENSG00000139722 24 0 0 22 18 45 PIWIL1 0 genome.wustl.edu 37 12 130855727 130855728 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 130855727 130855728 - T INS PIWIL1 ENST00000245255 human ensembl 74_37 +1 known frame_shift_ins c.2328_2329 p.I778fs 0.984:1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 279 0 0 299 100 25.0627 ATF7IP 0 genome.wustl.edu 37 12 14577801 14577802 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 14577801 14577802 - A INS ATF7IP ENST00000261168 human ensembl 74_37 +1 known frame_shift_ins c.952_953 p.N320fs 0.416:0.322 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 105 0 0 90 39 30.2326 ART4 0 genome.wustl.edu 37 12 14993875 14993876 + Frame_Shift_Del DEL GT GT - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 14993875 14993876 GT - DEL ART4 ENST00000228936 human ensembl 74_37 -1 known frame_shift_del c.357_356 p.H119fs 0.964:0.965 pfam_ART,prints_ART pfam_ART,prints_ART - no_errors ART4 HGNC ENSG00000111339 306 0 0 220 95 30.1587 KIF21A 0 genome.wustl.edu 37 12 39713784 39713784 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 39713784 39713784 T - DEL KIF21A ENST00000395670 human ensembl 74_37 -1 known frame_shift_del c.3703 p.I1235fs 0.002 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 10 0 0 12 4 25 KDM5A 0 genome.wustl.edu 37 12 416953 416953 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 416953 416953 T - DEL KDM5A ENST00000399788 human ensembl 74_37 -1 known frame_shift_del c.3597 p.G1200fs 0.987 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 191 0 0 146 94 39.1667 KMT2D 0 genome.wustl.edu 37 12 49443667 49443667 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 49443667 49443667 C - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.3704 p.G1235fs 0.962 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 134 0 0 126 33 20.7547 KMT2D 0 genome.wustl.edu 37 12 49448408 49448408 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 49448408 49448408 C - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.303 p.S102fs 0.952 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 27 0 0 21 6 22.2222 OR6C70 0 genome.wustl.edu 37 12 55863618 55863619 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 55863618 55863619 - A INS OR6C70 ENST00000327335 human ensembl 74_37 -1 known frame_shift_ins c.305_304 p.Y102fs 0.000:0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C70 HGNC ENSG00000184954 113 0 0 134 39 22.5434 PTGES3 0 genome.wustl.edu 37 12 57059872 57059872 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 57059872 57059872 T - DEL PTGES3 ENST00000537473 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTGES3 HGNC ENSG00000110958 9 0 0 10 9 47.3684 NACA 0 genome.wustl.edu 37 12 57106300 57106300 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 57106300 57106300 A - DEL NACA ENST00000548386 human ensembl 74_37 -1 known rna NULL NULL 0.944 - - - no_errors NACA HGNC ENSG00000196531 126 0 0 92 34 26.9841 MYO1A 0 genome.wustl.edu 37 12 57422573 57422573 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 57422573 57422573 T - DEL MYO1A ENST00000300119 human ensembl 74_37 -1 known frame_shift_del c.3098 p.K1033fs 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 164 1 0.606061 139 65 31.8627 GLI1 0 genome.wustl.edu 37 12 57860075 57860075 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 57860075 57860075 G - DEL GLI1 ENST00000228682 human ensembl 74_37 +1 known frame_shift_del c.815 p.G274fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 295 0 0 191 204 51.6456 MBD6 0 genome.wustl.edu 37 12 57921400 57921401 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 57921400 57921401 - C INS MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_ins c.2193_2194 p.Q733fs 1.000:1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 282 0 0 261 73 21.8563 MBD6 0 genome.wustl.edu 37 12 57921731 57921732 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 57921731 57921732 - G INS MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_ins c.2337_2338 p.A782fs 1.000:1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 115 1 0.862069 128 20 13.5135 USP15 0 genome.wustl.edu 37 12 62786091 62786091 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 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 34 0 0 48 13 21.3115 SRGAP1 0 genome.wustl.edu 37 12 64377821 64377821 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 64377821 64377821 A - DEL SRGAP1 ENST00000355086 human ensembl 74_37 +1 known frame_shift_del c.162 p.A57fs 0.938 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 212 0 0 172 73 29.7959 XPOT 0 genome.wustl.edu 37 12 64812754 64812755 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 64812754 64812755 - T INS XPOT ENST00000332707 human ensembl 74_37 +1 known frame_shift_ins c.369_370 p.D126fs 1.000:1.000 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 198 0 0 206 44 17.6 HMGA2 0 genome.wustl.edu 37 12 66221835 66221835 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 66221835 66221835 A - DEL HMGA2 ENST00000403681 human ensembl 74_37 +1 known frame_shift_del c.166 p.N57fs 1.000 smart_AT_hook_DNA-bd_motif,prints_HMGI/HMGY pfam_AT_hook_DNA-bd_motif,smart_AT_hook_DNA-bd_motif,prints_HMGI/HMGY,prints_AT_hook-like - no_errors HMGA2 HGNC ENSG00000149948 98 0 0 98 42 30 NUP107 0 genome.wustl.edu 37 12 69126366 69126367 + RNA DEL AA AA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 69126366 69126367 AA - DEL NUP107 ENST00000401003 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.009 - - - no_errors NUP107 HGNC ENSG00000111581 22 0 0 19 20 51.2821 GLIPR1L2 0 genome.wustl.edu 37 12 75816793 75816793 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 75816793 75816793 A - DEL GLIPR1L2 ENST00000320460 human ensembl 74_37 +1 known frame_shift_del c.694 p.M234fs 0.215 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR1L2 HGNC ENSG00000180481 124 0 0 137 22 13.8365 BBS10 0 genome.wustl.edu 37 12 76740960 76740960 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 76740960 76740960 A - DEL BBS10 ENST00000393262 human ensembl 74_37 -1 known frame_shift_del c.805 p.S269fs 0.164 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 45 0 0 47 23 32.8571 LRRIQ1 0 genome.wustl.edu 37 12 85449618 85449618 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 85449618 85449618 A - DEL LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known frame_shift_del c.1047 p.K351fs 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 23 0 0 18 9 33.3333 CCDC38 0 genome.wustl.edu 37 12 96292432 96292432 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 96292432 96292432 T - DEL CCDC38 ENST00000344280 human ensembl 74_37 -1 known frame_shift_del c.447 p.A150fs 0.125 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 123 0 0 106 48 31.1688 TMPO 0 genome.wustl.edu 37 12 98921672 98921672 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 12 98921672 98921672 A - DEL TMPO ENST00000266732 human ensembl 74_37 +1 known frame_shift_del c.288 p.T99fs 1.000 NULL 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 142 0 0 140 67 32.3671 PARP4 0 genome.wustl.edu 37 13 25030500 25030500 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 25030500 25030500 T - DEL PARP4 ENST00000381989 human ensembl 74_37 -1 known frame_shift_del c.2541 p.K847fs 0.996 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 133 0 0 104 43 29.2517 WASF3 0 genome.wustl.edu 37 13 27246073 27246074 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 27246073 27246074 - A INS WASF3 ENST00000335327 human ensembl 74_37 +1 known frame_shift_ins c.487_488 p.M165fs 1.000:1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 84 0 0 84 32 27.5862 WASF3 0 genome.wustl.edu 37 13 27255387 27255387 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 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 117 1 0.847458 77 75 49.3421 FLT3 0 genome.wustl.edu 37 13 28601359 28601359 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 28601359 28601359 A - DEL FLT3 ENST00000380982 human ensembl 74_37 -1 known frame_shift_del c.2073 p.F691fs 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FLT3 HGNC ENSG00000122025 102 0 0 102 37 26.6187 PDS5B 0 genome.wustl.edu 37 13 33344888 33344888 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 33344888 33344888 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.4161 p.N1390fs 0.002 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 33 0 0 20 29 59.1837 EXOSC8 0 genome.wustl.edu 37 13 37583392 37583392 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 37583392 37583392 A - DEL EXOSC8 ENST00000389704 human ensembl 74_37 +1 known frame_shift_del c.787 p.K264fs 1.000 superfamily_ExoRNase_PH_dom2 pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC8 HGNC ENSG00000120699 35 0 0 52 10 16.129 ZC3H13 0 genome.wustl.edu 37 13 46543397 46543398 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 46543397 46543398 - G INS ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_ins c.3282_3281 p.S1095fs 0.618:0.639 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 96 0 0 100 41 29.078 ZC3H13 0 genome.wustl.edu 37 13 46577338 46577338 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 46577338 46577338 T - DEL ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_del c.880 p.T294fs 0.957 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 345 0 0 298 135 31.1778 ITM2B 0 genome.wustl.edu 37 13 48830432 48830433 + In_Frame_Ins INS - - GAA TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 48830432 48830433 - GAA INS ITM2B ENST00000378565 human ensembl 74_37 +1 known in_frame_ins c.366_367 p.126in_frame_insE 1.000:1.000 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors ITM2B HGNC ENSG00000136156 141 0 0 138 35 20.2312 DLEU2 0 genome.wustl.edu 37 13 50623342 50623343 + RNA INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 50623342 50623343 - T INS DLEU2 ENST00000421758 human ensembl 74_37 -1 known rna NULL NULL 0.027:0.005 - - - no_errors DLEU2 HGNC ENSG00000231607 11 0 0 14 5 26.3158 VPS36 0 genome.wustl.edu 37 13 52999942 52999942 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 52999942 52999942 A - DEL VPS36 ENST00000492650 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors VPS36 HGNC ENSG00000136100 13 0 0 9 23 71.875 VPS36 0 genome.wustl.edu 37 13 53000038 53000038 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 53000038 53000038 A - DEL VPS36 ENST00000492650 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors VPS36 HGNC ENSG00000136100 86 0 0 79 33 29.4643 MYCBP2 0 genome.wustl.edu 37 13 77765900 77765900 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 77765900 77765900 C - DEL MYCBP2 ENST00000407578 human ensembl 74_37 -1 known frame_shift_del c.3984 p.W1329fs 0.719 pfam_PHR,superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 53 0 0 66 24 26.6667 EDNRB 0 genome.wustl.edu 37 13 78474004 78474004 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 78474004 78474004 T - DEL EDNRB ENST00000334286 human ensembl 74_37 -1 known frame_shift_del c.1184 p.N395fs 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_Bombsn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 69 0 0 97 35 26.5152 RBM26 0 genome.wustl.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 79918806 79918807 - T INS RBM26 ENST00000438724 human ensembl 74_37 -1 known frame_shift_ins c.2110_2109 p.Q703fs 1.000:1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 78 0 0 99 28 22.0472 PTMAP5 0 genome.wustl.edu 37 13 82265134 82265134 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 82265134 82265134 T - DEL PTMAP5 ENST00000607242 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors PTMAP5 HGNC ENSG00000214182 50 0 0 68 24 26.087 DOCK9 0 genome.wustl.edu 37 13 99630097 99630097 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 13 99630097 99630097 G - DEL DOCK9 ENST00000376460 human ensembl 74_37 -1 known frame_shift_del c.67 p.L23fs 0.114 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 27 0 0 21 8 27.5862 MTA1 0 genome.wustl.edu 37 14 105930432 105930432 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 105930432 105930432 G - DEL MTA1 ENST00000331320 human ensembl 74_37 +1 known frame_shift_del c.1140 p.A382fs 0.716 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 199 0 0 180 61 25.3112 ENSG00000258908 0 genome.wustl.edu 37 14 20943125 20943125 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 20943125 20943125 T - DEL ENSG00000258908 ENST00000554678 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-203M5.8 Clone_based_vega_gene ENSG00000258908 115 0 0 109 46 29.6774 NYNRIN 0 genome.wustl.edu 37 14 24877215 24877215 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 24877215 24877215 C - DEL NYNRIN ENST00000382554 human ensembl 74_37 +1 known frame_shift_del c.339 p.P115fs 0.001 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 128 0 0 98 43 30.4965 CBLN3 0 genome.wustl.edu 37 14 24898055 24898055 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 24898055 24898055 G - DEL CBLN3 ENST00000267406 human ensembl 74_37 -1 known frame_shift_del c.206 p.P69fs 0.868 smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN3 HGNC ENSG00000139899 37 0 0 26 10 27.7778 G2E3 0 genome.wustl.edu 37 14 31074772 31074772 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 31074772 31074772 A - DEL G2E3 ENST00000206595 human ensembl 74_37 +1 known frame_shift_del c.1072 p.T361fs 0.994 superfamily_HECT pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 20 0 0 22 16 42.1053 ARHGAP5 0 genome.wustl.edu 37 14 32562545 32562545 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 32562545 32562545 T - DEL ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known frame_shift_del c.2670 p.F892fs 0.999 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 72 0 0 90 41 31.2977 ARHGAP5 0 genome.wustl.edu 37 14 32562675 32562675 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 32562675 32562675 T - DEL ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known frame_shift_del c.2800 p.F935fs 1.000 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 127 0 0 114 50 30.4878 MBIP 0 genome.wustl.edu 37 14 36770037 36770037 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 36770037 36770037 A - DEL MBIP ENST00000604154 human ensembl 74_37 -1 putative rna NULL NULL 0.241 - - - no_errors MBIP HGNC ENSG00000151332 21 0 0 16 7 30.4348 GCH1 0 genome.wustl.edu 37 14 55310346 55310346 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 55310346 55310346 A - DEL GCH1 ENST00000254299 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GCH1 HGNC ENSG00000131979 25 0 0 17 13 43.3333 DPF3 0 genome.wustl.edu 37 14 73190445 73190445 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 73190445 73190445 A - DEL DPF3 ENST00000556238 human ensembl 74_37 -1 known rna NULL NULL 0.887 - - - no_errors DPF3 HGNC ENSG00000205683 149 0 0 137 48 25.9459 EML5 0 genome.wustl.edu 37 14 89082573 89082574 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 89082573 89082574 - T INS EML5 ENST00000554922 human ensembl 74_37 -1 known frame_shift_ins c.5810_5809 p.R1937fs 1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 189 0 0 182 49 21.2121 CLMN 0 genome.wustl.edu 37 14 95669231 95669231 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 14 95669231 95669231 G - DEL CLMN ENST00000298912 human ensembl 74_37 -1 known frame_shift_del c.2455 p.H819fs 0.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 203 0 0 169 45 21.028 SNORD116-30 0 genome.wustl.edu 37 15 25353432 25353432 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 25353432 25353432 A - DEL SNORD116-30 ENST00000516468 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors SNORD116-30 HGNC ENSG00000252277 12 0 0 3 9 75 HERC2 0 genome.wustl.edu 37 15 28474842 28474843 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 28474842 28474843 - T INS HERC2 ENST00000261609 human ensembl 74_37 -1 known frame_shift_ins c.4961_4960 p.M1654fs 1.000:1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 436 1 0.228833 435 163 27.2575 HERC2 0 genome.wustl.edu 37 15 28525215 28525215 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 28525215 28525215 T - DEL HERC2 ENST00000261609 human ensembl 74_37 -1 known frame_shift_del c.541 p.S181fs 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 115 0 0 112 51 31.2883 RYR3 0 genome.wustl.edu 37 15 34113566 34113567 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 34113566 34113567 - A INS RYR3 ENST00000389232 human ensembl 74_37 +1 known frame_shift_ins c.10911_10912 p.G3638fs 1.000:1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 15 0 0 27 6 18.1818 MFAP1 0 genome.wustl.edu 37 15 44106833 44106834 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 44106833 44106834 - T INS MFAP1 ENST00000267812 human ensembl 74_37 -1 known frame_shift_ins c.483_482 p.N161fs 0.996:1.000 NULL pfam_MFAP1_C - no_errors MFAP1 HGNC ENSG00000140259 172 0 0 157 50 24.1546 EIF3J 0 genome.wustl.edu 37 15 44843099 44843099 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 44843099 44843099 A - DEL EIF3J ENST00000261868 human ensembl 74_37 +1 known frame_shift_del c.173 p.E61fs 1.000 pfam_eIF3j pfam_eIF3j - no_errors EIF3J HGNC ENSG00000104131 128 0 0 154 51 24.878 PIGB 0 genome.wustl.edu 37 15 55611484 55611484 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 55611484 55611484 G - DEL PIGB ENST00000164305 human ensembl 74_37 +1 known frame_shift_del c.36 p.G14fs 0.003 NULL pfam_GPI_mannosylTrfase - no_errors PIGB HGNC ENSG00000069943 10 0 0 8 2 20 ZNF609 0 genome.wustl.edu 37 15 64967247 64967247 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 64967247 64967247 A - DEL ZNF609 ENST00000326648 human ensembl 74_37 +1 known frame_shift_del c.2194 p.K734fs 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 282 0 0 292 101 25.6997 ITGA11 0 genome.wustl.edu 37 15 68628121 68628121 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 68628121 68628121 G - DEL ITGA11 ENST00000315757 human ensembl 74_37 -1 known frame_shift_del c.1339 p.R447fs 0.997 smart_Int_alpha_beta-p,prints_Integrin_alpha 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 ITGA11 HGNC ENSG00000137809 20 0 0 29 3 9.375 LOXL1 0 genome.wustl.edu 37 15 74235283 74235285 + In_Frame_Del DEL GGA GGA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 15 74235283 74235285 GGA - DEL LOXL1 ENST00000261921 human ensembl 74_37 +1 known in_frame_del c.1191_1193 p.E399in_frame_del 0.076:0.998:1.000 pfam_Lysyl_oxidase,prints_Lysyl_oxidase pfam_Lysyl_oxidase,prints_Lysyl_oxidase - no_errors LOXL1 HGNC ENSG00000129038 236 0 0 172 53 23.5556 CLEC16A 0 genome.wustl.edu 37 16 11141159 11141159 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 11141159 11141159 T - DEL CLEC16A ENST00000409790 human ensembl 74_37 +1 known frame_shift_del c.1826 p.L611fs 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 28 0 0 40 13 24.5283 TSR3 0 genome.wustl.edu 37 16 1399497 1399497 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 1399497 1399497 C - DEL TSR3 ENST00000007390 human ensembl 74_37 -1 known frame_shift_del c.880 p.A294fs 0.005 NULL pfam_DUF367,pfam_RNaseL-inhib_metal-bd_dom - no_errors TSR3 HGNC ENSG00000007520 526 0 0 469 78 14.2596 MYH11 0 genome.wustl.edu 37 16 15802687 15802687 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 15802687 15802687 G - DEL MYH11 ENST00000452625 human ensembl 74_37 -1 known frame_shift_del c.5819 p.P1940fs 1.000 NULL 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,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 20 0 0 24 3 11.1111 ABCC1 0 genome.wustl.edu 37 16 16165586 16165587 + Frame_Shift_Ins INS - - GT TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 16165586 16165587 - GT INS ABCC1 ENST00000399408 human ensembl 74_37 +1 known frame_shift_ins c.1912_1913 p.G639fs 0.992:1.000 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 ABCC1 HGNC ENSG00000103222 34 0 0 34 11 24.4444 GPR139 0 genome.wustl.edu 37 16 20043388 20043389 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 20043388 20043389 - G INS GPR139 ENST00000570682 human ensembl 74_37 -1 known frame_shift_ins c.731_730 p.R244fs 1.000:0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR139 HGNC ENSG00000180269 106 0 0 88 37 29.6 ACSM2B 0 genome.wustl.edu 37 16 20556548 20556548 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 20556548 20556548 G - DEL ACSM2B ENST00000329697 human ensembl 74_37 -1 known frame_shift_del c.1212 p.G405fs 0.391 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 112 0 0 87 13 13 ERN2 0 genome.wustl.edu 37 16 23718096 23718096 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 23718096 23718096 G - DEL ERN2 ENST00000256797 human ensembl 74_37 -1 known frame_shift_del c.610 p.R204fs 0.894 superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat 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 123 0 0 157 16 9.24855 ARHGAP17 0 genome.wustl.edu 37 16 24942337 24942337 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 24942337 24942337 G - DEL ARHGAP17 ENST00000289968 human ensembl 74_37 -1 known frame_shift_del c.2283 p.S762fs 0.959 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 257 0 0 234 78 25 APOBR 0 genome.wustl.edu 37 16 28508985 28508985 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 28508985 28508985 G - DEL APOBR ENST00000564831 human ensembl 74_37 +1 known frame_shift_del c.2623 p.L877fs 0.000 NULL NULL - no_errors APOBR HGNC ENSG00000184730 19 0 0 19 6 24 SH2B1 0 genome.wustl.edu 37 16 28883207 28883208 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 28883207 28883208 - C INS SH2B1 ENST00000322610 human ensembl 74_37 +1 known frame_shift_ins c.1416_1417 p.R474fs 1.000:1.000 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC ENSG00000178188 177 1 0.561798 173 28 13.9303 ZNF48 0 genome.wustl.edu 37 16 30409310 30409310 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 30409310 30409310 C - DEL ZNF48 ENST00000320159 human ensembl 74_37 +1 known frame_shift_del c.739 p.R249fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 55 0 0 54 10 15.625 BCL7C 0 genome.wustl.edu 37 16 30899222 30899223 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 30899222 30899223 - G INS BCL7C ENST00000215115 human ensembl 74_37 -1 known frame_shift_ins c.618_617 p.L207fs 1.000:1.000 NULL pfam_BCL7 - no_errors BCL7C HGNC ENSG00000099385 266 0 0 251 91 26.6082 KAT8 0 genome.wustl.edu 37 16 31139392 31139392 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 31139392 31139392 C - DEL KAT8 ENST00000448516 human ensembl 74_37 +1 known frame_shift_del c.703 p.K238fs 1.000 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC ENSG00000103510 52 0 0 43 9 17.3077 PRSS36 0 genome.wustl.edu 37 16 31151942 31151942 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 31151942 31151942 G - DEL PRSS36 ENST00000268281 human ensembl 74_37 -1 known frame_shift_del c.2038 p.L680fs 0.448 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 23 0 0 23 13 36.1111 LOC100134368 0 genome.wustl.edu 37 16 436712 436714 + RNA DEL AAA AAA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 436712 436714 AAA - DEL LOC100134368 ENST00000457760 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001:0.000 - - - no_errors Z97634.3 Clone_based_vega_gene ENSG00000236829 37 0 0 38 7 15.5556 GLYR1 0 genome.wustl.edu 37 16 4862228 4862229 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 4862228 4862229 - C INS GLYR1 ENST00000321919 human ensembl 74_37 -1 known frame_shift_ins c.1141_1140 p.R380fs 0.990:0.170 pfam_6PGDH_NADP-bd pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom - no_errors GLYR1 HGNC ENSG00000140632 52 0 0 58 11 15.942 IRX3 0 genome.wustl.edu 37 16 54319087 54319087 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 54319087 54319087 C - DEL IRX3 ENST00000329734 human ensembl 74_37 -1 known frame_shift_del c.706 p.E236fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX3 HGNC ENSG00000177508 14 0 0 13 6 31.5789 OGFOD1 0 genome.wustl.edu 37 16 56501170 56501170 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 56501170 56501170 C - DEL OGFOD1 ENST00000566157 human ensembl 74_37 +1 known frame_shift_del c.751 p.I253fs 0.992 NULL pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph - no_errors OGFOD1 HGNC ENSG00000087263 197 0 0 237 16 6.32411 CX3CL1 0 genome.wustl.edu 37 16 57416105 57416105 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 57416105 57416105 G - DEL CX3CL1 ENST00000006053 human ensembl 74_37 +1 known frame_shift_del c.355 p.G120fs 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 76 0 0 85 31 26.7241 PLA2G15 0 genome.wustl.edu 37 16 68279440 68279440 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 68279440 68279440 C - DEL PLA2G15 ENST00000219345 human ensembl 74_37 +1 known frame_shift_del c.111 p.P39fs 0.001 NULL pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 15 0 0 16 5 23.8095 SNTB2 0 genome.wustl.edu 37 16 69317980 69317980 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 69317980 69317980 C - DEL SNTB2 ENST00000336278 human ensembl 74_37 +1 known frame_shift_del c.1178 p.S395fs 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB2 HGNC ENSG00000168807 298 0 0 252 79 23.8671 WDR90 0 genome.wustl.edu 37 16 715973 715973 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 715973 715973 C - DEL WDR90 ENST00000315764 human ensembl 74_37 +1 known frame_shift_del c.255 p.P87fs 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 WDR90 HGNC ENSG00000161996 78 0 0 102 31 23.3083 CENPN 0 genome.wustl.edu 37 16 81056405 81056406 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 81056405 81056406 - T INS CENPN ENST00000299572 human ensembl 74_37 +1 known frame_shift_ins c.577_578 p.L194fs 0.001:0.000 NULL pfam_Chl4/mis15/CENP-N - no_errors CENPN HGNC ENSG00000166451 104 0 0 123 39 24.0741 ENSG00000261286 0 genome.wustl.edu 37 16 84495782 84495782 + RNA DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 84495782 84495782 G - DEL ENSG00000261286 ENST00000565700 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-517C16.2 Clone_based_vega_gene ENSG00000261286 67 0 0 84 24 22.2222 ZDHHC7 0 genome.wustl.edu 37 16 85010039 85010039 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 85010039 85010039 G - DEL ZDHHC7 ENST00000344861 human ensembl 74_37 -1 known frame_shift_del c.948 p.S317fs 0.902 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC7 HGNC ENSG00000153786 94 0 0 81 25 23.5849 GSE1 0 genome.wustl.edu 37 16 85682290 85682290 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 85682290 85682290 C - DEL GSE1 ENST00000253458 human ensembl 74_37 +1 known frame_shift_del c.359 p.V123fs 0.999 pfam_GSE-like pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 170 1 0.584795 97 102 51.2563 SPG7 0 genome.wustl.edu 37 16 89616910 89616910 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 16 89616910 89616910 A - DEL SPG7 ENST00000268704 human ensembl 74_37 +1 known frame_shift_del c.1672 p.K559fs 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 104 0 0 124 36 22.5 LOC100128006 0 genome.wustl.edu 37 17 12663850 12663850 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 12663850 12663850 A - DEL LOC100128006 ENST00000584772 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-1090M7.1 Clone_based_vega_gene ENSG00000265489 9 0 0 3 8 72.7273 CRK 0 genome.wustl.edu 37 17 1326755 1326758 + RNA DEL AAAA AAAA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 1326755 1326758 AAAA - DEL CRK ENST00000572145 human ensembl 74_37 -1 known rna NULL NULL 0.352:0.023:0.010:0.011 - - - no_errors CRK HGNC ENSG00000167193 57 0 0 32 44 57.8947 USP32P1 0 genome.wustl.edu 37 17 16691337 16691337 + RNA DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 16691337 16691337 G - DEL USP32P1 ENST00000393005 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors USP32P1 HGNC ENSG00000188933 215 0 0 219 32 12.749 FLII 0 genome.wustl.edu 37 17 18150517 18150517 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 18150517 18150517 A - DEL FLII ENST00000327031 human ensembl 74_37 -1 known frame_shift_del c.2642 p.F881fs 1.000 NULL pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors FLII HGNC ENSG00000177731 48 0 0 51 8 13.5593 SMG6 0 genome.wustl.edu 37 17 1964760 1964760 + RNA DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 1964760 1964760 G - DEL SMG6 ENST00000570756 human ensembl 74_37 -1 known rna NULL NULL 0.027 - - - no_errors SMG6 HGNC ENSG00000070366 12 0 0 7 6 46.1538 NOS2 0 genome.wustl.edu 37 17 26091136 26091136 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 26091136 26091136 G - DEL NOS2 ENST00000313735 human ensembl 74_37 -1 known frame_shift_del c.2463 p.C822fs 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 43 0 0 51 4 7.27273 TMEM97 0 genome.wustl.edu 37 17 26653807 26653807 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 26653807 26653807 A - DEL TMEM97 ENST00000226230 human ensembl 74_37 +1 known frame_shift_del c.519 p.K176fs 1.000 pirsf_Transmembrane_6/97 pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97 - no_errors TMEM97 HGNC ENSG00000109084 99 0 0 83 29 25.8929 KIAA0100 0 genome.wustl.edu 37 17 26971123 26971123 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 26971123 26971123 A - DEL KIAA0100 ENST00000528896 human ensembl 74_37 -1 known frame_shift_del c.151 p.W51fs 1.000 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 186 1 0.534759 166 40 19.4175 SEZ6 0 genome.wustl.edu 37 17 27296914 27296914 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 27296914 27296914 C - DEL SEZ6 ENST00000317338 human ensembl 74_37 -1 known frame_shift_del c.915 p.P306fs 0.497 superfamily_CUB_dom pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC ENSG00000063015 47 0 0 34 19 35.8491 NF1 0 genome.wustl.edu 37 17 29553477 29553478 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 29553477 29553478 - C INS NF1 ENST00000358273 human ensembl 74_37 +1 known frame_shift_ins c.2026_2027 p.I679fs 0.997:0.998 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 79 0 0 56 52 48.1481 SLFN13 0 genome.wustl.edu 37 17 33768996 33768996 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 33768996 33768996 C - DEL SLFN13 ENST00000285013 human ensembl 74_37 -1 known frame_shift_del c.1508 p.G503fs 0.052 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN13 HGNC ENSG00000154760 127 0 0 149 23 13.3721 LHX1 0 genome.wustl.edu 37 17 35300395 35300395 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 35300395 35300395 C - DEL LHX1 ENST00000254457 human ensembl 74_37 +1 known frame_shift_del c.1188 p.E399fs 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 LHX1 HGNC ENSG00000132130 24 0 0 43 11 20.3704 SRCIN1 0 genome.wustl.edu 37 17 36707452 36707452 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 36707452 36707452 G - DEL SRCIN1 ENST00000264659 human ensembl 74_37 -1 known frame_shift_del c.2901 p.K968fs 1.000 NULL pfam_AIP3_C - no_errors SRCIN1 HGNC ENSG00000017373 54 0 0 29 22 43.1373 HAP1 0 genome.wustl.edu 37 17 39881315 39881315 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 39881315 39881315 C - DEL HAP1 ENST00000310778 human ensembl 74_37 -1 known frame_shift_del c.1654 p.E552fs 0.001 NULL pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 612 0 0 580 138 19.2201 KANSL1 0 genome.wustl.edu 37 17 44109601 44109601 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 44109601 44109601 G - DEL KANSL1 ENST00000262419 human ensembl 74_37 -1 known frame_shift_del c.2902 p.Q968fs 0.999 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 104 0 0 104 33 24.0876 TMEM92 0 genome.wustl.edu 37 17 48356598 48356598 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 48356598 48356598 C - DEL TMEM92 ENST00000300433 human ensembl 74_37 +1 known frame_shift_del c.409 p.P138fs 0.948 NULL NULL - no_errors TMEM92 HGNC ENSG00000167105 529 0 0 435 87 16.6667 HLF 0 genome.wustl.edu 37 17 53345288 53345288 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 53345288 53345288 C - DEL HLF ENST00000226067 human ensembl 74_37 +1 known frame_shift_del c.292 p.S100fs 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors HLF HGNC ENSG00000108924 255 0 0 229 100 30.3951 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 261 0 0 144 116 44.6154 PRR11 0 genome.wustl.edu 37 17 57247171 57247171 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 57247171 57247171 A - DEL PRR11 ENST00000262293 human ensembl 74_37 +1 known frame_shift_del c.58 p.E23fs 0.749 NULL NULL - no_errors PRR11 HGNC ENSG00000068489 83 0 0 104 33 24.0876 LRRC37A3 0 genome.wustl.edu 37 17 62856785 62856785 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 62856785 62856785 T - DEL LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known frame_shift_del c.3479 p.N1160fs 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 270 0 0 251 97 27.8736 RPH3AL 0 genome.wustl.edu 37 17 63687 63688 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 63687 63688 - G INS RPH3AL ENST00000331302 human ensembl 74_37 -1 known frame_shift_ins c.904_903 p.A301fs 0.002:0.005 NULL pfam_Znf_FYVE-typ,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RPH3AL HGNC ENSG00000181031 69 0 0 63 13 17.1053 ABCA10 0 genome.wustl.edu 37 17 67189694 67189694 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 67189694 67189694 T - DEL ABCA10 ENST00000269081 human ensembl 74_37 -1 known frame_shift_del c.1581 p.K527fs 0.013 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 ABCA10 HGNC ENSG00000154263 65 0 0 56 24 30 ABCA5 0 genome.wustl.edu 37 17 67309411 67309412 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 67309411 67309412 - A INS ABCA5 ENST00000392677 human ensembl 74_37 -1 known frame_shift_ins c.129_128 p.L43fs 1.000:1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 26 0 0 26 8 23.5294 RECQL5 0 genome.wustl.edu 37 17 73625328 73625328 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 73625328 73625328 C - DEL RECQL5 ENST00000317905 human ensembl 74_37 -1 known frame_shift_del c.2175 p.S727fs 0.000 pfam_RecQ_helicase-like_5 pfam_RecQ_helicase-like_5,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,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 44 0 0 45 25 35.7143 TNRC6C 0 genome.wustl.edu 37 17 76046980 76046980 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 76046980 76046980 A - DEL TNRC6C ENST00000335749 human ensembl 74_37 +1 known frame_shift_del c.1837 p.N615fs 0.960 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 124 1 0.8 90 37 29.1339 KDM6B 0 genome.wustl.edu 37 17 7750533 7750533 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 7750533 7750533 C - DEL KDM6B ENST00000254846 human ensembl 74_37 +1 known frame_shift_del c.1020 p.P342fs 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 75 0 0 114 36 24 LRRC45 0 genome.wustl.edu 37 17 79983283 79983283 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 79983283 79983283 G - DEL LRRC45 ENST00000306688 human ensembl 74_37 +1 known frame_shift_del c.561 p.G189fs 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC45 HGNC ENSG00000169683 122 0 0 141 24 14.5455 PER1 0 genome.wustl.edu 37 17 8050889 8050889 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 17 8050889 8050889 G - DEL PER1 ENST00000317276 human ensembl 74_37 -1 known frame_shift_del c.1396 p.L466fs 1.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 42 0 0 41 19 31.6667 ROCK1P1 0 genome.wustl.edu 37 18 117217 117217 + RNA DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 117217 117217 C - DEL ROCK1P1 ENST00000576266 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ROCK1P1 HGNC ENSG00000263006 48 0 0 41 25 37.8788 ANKRD20A5P 0 genome.wustl.edu 37 18 14219963 14219963 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 14219963 14219963 A - DEL ANKRD20A5P ENST00000580995 human ensembl 74_37 +1 known rna NULL NULL 0.296 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 23 0 0 28 8 22.2222 ROCK1 0 genome.wustl.edu 37 18 18533679 18533679 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 18533679 18533679 T - DEL ROCK1 ENST00000399799 human ensembl 74_37 -1 known frame_shift_del c.3921 p.K1307fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology 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 115 0 0 171 18 9.52381 THOC1 0 genome.wustl.edu 37 18 265348 265348 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 265348 265348 T - DEL THOC1 ENST00000261600 human ensembl 74_37 -1 known frame_shift_del c.144 p.K48fs 1.000 NULL pfam_THO_THOC1,pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain - no_errors THOC1 HGNC ENSG00000079134 32 0 0 20 9 31.0345 ENSG00000263606 0 genome.wustl.edu 37 18 2946646 2946647 + RNA INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 2946646 2946647 - A INS ENSG00000263606 ENST00000581139 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-737O24.3 Clone_based_vega_gene ENSG00000263606 8 0 0 6 4 40 ENSG00000252258 0 genome.wustl.edu 37 18 3025533 3025533 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 3025533 3025533 A - DEL ENSG00000252258 ENST00000516449 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors SNORA70 RFAM ENSG00000252258 30 0 0 38 7 15.5556 MYL12A 0 genome.wustl.edu 37 18 3255845 3255845 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 3255845 3255845 A - DEL MYL12A ENST00000217652 human ensembl 74_37 +1 known frame_shift_del c.445 p.K150fs 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL12A HGNC ENSG00000101608 48 0 0 39 23 37.0968 EPG5 0 genome.wustl.edu 37 18 43459143 43459143 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 43459143 43459143 A - DEL EPG5 ENST00000282041 human ensembl 74_37 -1 known frame_shift_del c.5704 p.Y1902fs 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 122 0 0 171 33 16.1765 EPG5 0 genome.wustl.edu 37 18 43535048 43535048 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 43535048 43535048 C - DEL EPG5 ENST00000282041 human ensembl 74_37 -1 known frame_shift_del c.320 p.G107fs 0.008 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 124 0 0 148 46 23.7113 WDR7 0 genome.wustl.edu 37 18 54358513 54358513 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 54358513 54358513 G - DEL WDR7 ENST00000254442 human ensembl 74_37 +1 known frame_shift_del c.784 p.D264fs 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 188 1 0.529101 196 51 20.6478 SERPINB8 0 genome.wustl.edu 37 18 61652328 61652328 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 61652328 61652328 A - DEL SERPINB8 ENST00000353706 human ensembl 74_37 +1 known frame_shift_del c.569 p.K192fs 0.750 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB8 HGNC ENSG00000166401 107 0 0 113 49 30.2469 TSHZ1 0 genome.wustl.edu 37 18 72998443 72998443 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 18 72998443 72998443 C - DEL TSHZ1 ENST00000580243 human ensembl 74_37 +1 known frame_shift_del c.1081 p.C363fs 0.898 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 120 0 0 100 40 28.5714 ICAM4 0 genome.wustl.edu 37 19 10397719 10397719 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 10397719 10397719 T - DEL ICAM4 ENST00000340992 human ensembl 74_37 +1 known frame_shift_del c.31 p.L13fs 0.004 NULL pfam_ICAM_N - no_errors ICAM4 HGNC ENSG00000105371 25 0 0 24 5 17.2414 ELAVL3 0 genome.wustl.edu 37 19 11577604 11577605 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 11577604 11577605 - C INS ELAVL3 ENST00000359227 human ensembl 74_37 -1 known frame_shift_ins c.48_47 p.A18fs 1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 29 0 0 38 6 13.6364 ZNF878 0 genome.wustl.edu 37 19 12155624 12155625 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 12155624 12155625 - T INS ZNF878 ENST00000602107 human ensembl 74_37 -1 known frame_shift_ins c.733_732 p.P244fs 0.999:0.999 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 ZNF878 HGNC ENSG00000257446 334 0 0 279 116 29.3671 C19orf26 0 genome.wustl.edu 37 19 1231206 1231206 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 1231206 1231206 C - DEL C19orf26 ENST00000382477 human ensembl 74_37 -1 known frame_shift_del c.1108 p.D370fs 0.616 NULL NULL - no_errors C19orf26 HGNC ENSG00000099625 130 0 0 109 41 27.3333 GCDH 0 genome.wustl.edu 37 19 13008601 13008601 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 13008601 13008601 G - DEL GCDH ENST00000222214 human ensembl 74_37 +1 known frame_shift_del c.1167 p.N392fs 0.996 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors GCDH HGNC ENSG00000105607 165 0 0 165 25 13.1579 CACNA1A 0 genome.wustl.edu 37 19 13373629 13373629 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 13373629 13373629 T - DEL CACNA1A ENST00000360228 human ensembl 74_37 -1 known frame_shift_del c.4008 p.D1337fs 0.993 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 41 0 0 33 24 42.1053 DAZAP1 0 genome.wustl.edu 37 19 1430254 1430254 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 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 47 0 0 51 14 21.5385 CIB3 0 genome.wustl.edu 37 19 16275654 16275654 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 16275654 16275654 C - DEL CIB3 ENST00000269878 human ensembl 74_37 -1 known frame_shift_del c.417 p.L140fs 1.000 NULL pfscan_EF_hand_dom - no_errors CIB3 HGNC ENSG00000141977 144 0 0 130 34 20.7317 FKBP8 0 genome.wustl.edu 37 19 18649226 18649226 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 18649226 18649226 G - DEL FKBP8 ENST00000453489 human ensembl 74_37 -1 known frame_shift_del c.656 p.P219fs 0.997 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP8 HGNC ENSG00000105701 34 0 0 43 14 24.5614 CRTC1 0 genome.wustl.edu 37 19 18887993 18887993 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 18887993 18887993 C - DEL CRTC1 ENST00000338797 human ensembl 74_37 +1 known frame_shift_del c.1754 p.S588fs 1.000 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 106 0 0 81 52 39.0977 ZNF90 0 genome.wustl.edu 37 19 20228702 20228702 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 20228702 20228702 A - DEL ZNF90 ENST00000418063 human ensembl 74_37 +1 known frame_shift_del c.339 p.G116fs 0.054 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 ZNF90 HGNC ENSG00000213988 26 0 0 37 18 32.7273 UPK1A 0 genome.wustl.edu 37 19 36166866 36166867 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 36166866 36166867 - C INS UPK1A ENST00000379013 human ensembl 74_37 +1 known frame_shift_ins c.593_594 p.L200fs 0.624:0.360 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC ENSG00000105668 98 0 0 71 25 26.0417 KMT2B 0 genome.wustl.edu 37 19 36223002 36223002 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 36223002 36223002 G - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.5631 p.G1879fs 0.997 pirsf_MeTrfase_trithorax 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_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_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 9 0 0 13 5 27.7778 SIPA1L3 0 genome.wustl.edu 37 19 38610300 38610300 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 38610300 38610300 G - DEL SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known frame_shift_del c.2646 p.V884fs 0.999 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 124 0 0 116 53 31.3609 FAM98C 0 genome.wustl.edu 37 19 38899416 38899416 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 38899416 38899416 G - DEL FAM98C ENST00000252530 human ensembl 74_37 +1 known frame_shift_del c.944 p.G317fs 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98C HGNC ENSG00000130244 138 0 0 152 44 22.449 HNRNPL 0 genome.wustl.edu 37 19 39330959 39330959 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 39330959 39330959 G - DEL HNRNPL ENST00000221419 human ensembl 74_37 -1 known frame_shift_del c.1010 p.P337fs 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 17 0 0 14 7 33.3333 DYRK1B 0 genome.wustl.edu 37 19 40320999 40320999 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 40320999 40320999 G - DEL DYRK1B ENST00000601972 human ensembl 74_37 -1 putative frame_shift_del c.388 p.H130fs 0.002 NULL superfamily_Kinase-like_dom - no_errors DYRK1B HGNC ENSG00000105204 79 0 0 61 26 29.8851 CIC 0 genome.wustl.edu 37 19 42793161 42793162 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 42793161 42793162 - C INS CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_ins c.1053_1054 p.R352fs 1.000:1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 125 0 0 128 29 18.4713 APOC1 0 genome.wustl.edu 37 19 45419665 45419666 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 45419665 45419666 - A INS APOC1 ENST00000592885 human ensembl 74_37 +1 novel frame_shift_ins c.277_278 p.T96fs 0.009:0.005 NULL pfam_ApoC-I - no_errors APOC1 HGNC ENSG00000130208 28 0 0 25 5 16.6667 APOC1 0 genome.wustl.edu 37 19 45419666 45419666 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 45419666 45419666 A - DEL APOC1 ENST00000592885 human ensembl 74_37 +1 novel frame_shift_del c.278 p.T96fs 0.005 NULL pfam_ApoC-I - no_errors APOC1 HGNC ENSG00000130208 28 0 0 21 9 30 RELB 0 genome.wustl.edu 37 19 45515357 45515357 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 45515357 45515357 C - DEL RELB ENST00000221452 human ensembl 74_37 +1 known frame_shift_del c.327 p.L111fs 0.932 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELB HGNC ENSG00000104856 18 0 0 13 10 43.4783 FBXO46 0 genome.wustl.edu 37 19 46216274 46216274 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 46216274 46216274 G - DEL FBXO46 ENST00000317683 human ensembl 74_37 -1 known frame_shift_del c.480 p.A161fs 0.000 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 11 0 0 14 4 22.2222 IRF2BP1 0 genome.wustl.edu 37 19 46388666 46388666 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 46388666 46388666 G - DEL IRF2BP1 ENST00000302165 human ensembl 74_37 -1 known frame_shift_del c.367 p.L123fs 0.004 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP1 HGNC ENSG00000170604 26 0 0 25 4 13.7931 CABP5 0 genome.wustl.edu 37 19 48537535 48537535 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 48537535 48537535 G - DEL CABP5 ENST00000293255 human ensembl 74_37 -1 known frame_shift_del c.433 p.R145fs 0.088 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP5 HGNC ENSG00000105507 66 0 0 42 20 32.2581 SPHK2 0 genome.wustl.edu 37 19 49131529 49131530 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 49131529 49131530 - G INS SPHK2 ENST00000443164 human ensembl 74_37 +1 known frame_shift_ins c.1053_1054 p.F353fs 0.640:0.998 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 69 0 0 65 21 24.4186 BAX 0 genome.wustl.edu 37 19 49458971 49458971 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 49458971 49458971 G - DEL BAX ENST00000293288 human ensembl 74_37 +1 known frame_shift_del c.114 p.E41fs 0.588 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAX HGNC ENSG00000087088 104 0 0 69 59 46.0938 TEAD2 0 genome.wustl.edu 37 19 49850473 49850474 + Frame_Shift_Del DEL GG GG - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 49850473 49850474 GG - DEL TEAD2 ENST00000311227 human ensembl 74_37 -1 known frame_shift_del c.883_882 p.H295fs 0.961:0.528 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 387 0 0 359 98 21.4442 SCAF1 0 genome.wustl.edu 37 19 50158042 50158042 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 50158042 50158042 C - DEL SCAF1 ENST00000360565 human ensembl 74_37 +1 known frame_shift_del c.3533 p.T1181fs 0.934 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 68 0 0 88 5 5.37634 ENSG00000268889 0 genome.wustl.edu 37 19 51906670 51906670 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 51906670 51906670 T - DEL ENSG00000268889 ENST00000600765 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors CTD-2616J11.14 Clone_based_vega_gene ENSG00000268889 74 0 0 55 39 41.4894 PRPF31 0 genome.wustl.edu 37 19 54629881 54629881 + RNA DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 54629881 54629881 C - DEL PRPF31 ENST00000498612 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PRPF31 HGNC ENSG00000105618 19 0 0 15 10 40 LILRB1 0 genome.wustl.edu 37 19 55148385 55148385 + RNA DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 55148385 55148385 C - DEL LILRB1 ENST00000462628 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LILRB1 HGNC ENSG00000104972 36 0 0 38 14 26.9231 SAFB 0 genome.wustl.edu 37 19 5667115 5667115 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 5667115 5667115 G - DEL SAFB ENST00000588852 human ensembl 74_37 +1 known frame_shift_del c.2393 p.G800fs 1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 104 0 0 137 41 23.0337 CATSPERD 0 genome.wustl.edu 37 19 5754227 5754227 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 5754227 5754227 C - DEL CATSPERD ENST00000381624 human ensembl 74_37 +1 known frame_shift_del c.1249 p.Q418fs 0.002 NULL superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 268 0 0 255 80 23.8806 ZNF264 0 genome.wustl.edu 37 19 57724155 57724155 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 57724155 57724155 A - DEL ZNF264 ENST00000263095 human ensembl 74_37 +1 known frame_shift_del c.1690 p.N565fs 1.000 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 ZNF264 HGNC ENSG00000083844 175 0 0 150 70 31.8182 DENND1C 0 genome.wustl.edu 37 19 6477251 6477251 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 6477251 6477251 G - DEL DENND1C ENST00000381480 human ensembl 74_37 -1 known frame_shift_del c.491 p.P164fs 0.983 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom 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 DENND1C HGNC ENSG00000205744 21 0 0 44 4 8.33333 OR7G2 0 genome.wustl.edu 37 19 9213598 9213599 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 19 9213598 9213599 - A INS OR7G2 ENST00000305456 human ensembl 74_37 -1 known frame_shift_ins c.385_384 p.A128fs 0.001:0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G2 HGNC ENSG00000170923 111 0 0 101 46 31.2925 ENSG00000214184 0 genome.wustl.edu 37 2 109123989 109123989 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 109123989 109123989 T - DEL ENSG00000214184 ENST00000322353 human ensembl 74_37 -1 known rna NULL NULL 0.892 - - - no_errors AC012487.2 Clone_based_vega_gene ENSG00000214184 69 0 0 64 28 30.4348 ATP6V1C2 0 genome.wustl.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 10917819 10917820 AG - DEL ATP6V1C2 ENST00000272238 human ensembl 74_37 +1 known frame_shift_del c.934_935 p.E315fs 1.000:1.000 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C2 HGNC ENSG00000143882 182 1 0.546448 157 53 25.2381 FAM168B 0 genome.wustl.edu 37 2 131812907 131812907 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 131812907 131812907 G - DEL FAM168B ENST00000389915 human ensembl 74_37 -1 known frame_shift_del c.413 p.P138fs 0.946 NULL NULL - no_errors FAM168B HGNC ENSG00000152102 219 0 0 225 62 21.6028 LRP1B 0 genome.wustl.edu 37 2 141115624 141115624 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 141115624 141115624 T - DEL LRP1B ENST00000389484 human ensembl 74_37 -1 known frame_shift_del c.11319 p.K3773fs 0.565 pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt_N_dom,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 117 0 0 146 71 32.7189 KYNU 0 genome.wustl.edu 37 2 143798151 143798151 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 143798151 143798151 G - DEL KYNU ENST00000264170 human ensembl 74_37 +1 known frame_shift_del c.1196 p.C401fs 0.871 superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase - no_errors KYNU HGNC ENSG00000115919 101 0 0 93 37 28.4615 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683687 + Frame_Shift_Del DEL AA AA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 148683686 148683687 AA - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303_1304 p.K437fs 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,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 ACVR2A HGNC ENSG00000121989 175 0 0 230 76 24.8366 KIF5C 0 genome.wustl.edu 37 2 149861973 149861973 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 149861973 149861973 A - DEL KIF5C ENST00000435030 human ensembl 74_37 +1 known frame_shift_del c.2440 p.S816fs 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 28 0 0 40 11 21.5686 RIF1 0 genome.wustl.edu 37 2 152285379 152285379 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 152285379 152285379 A - DEL RIF1 ENST00000243326 human ensembl 74_37 +1 known frame_shift_del c.868 p.K291fs 1.000 pfam_Rif1_N,superfamily_ARM-type_fold pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 70 0 0 84 24 22.2222 ITGA6 0 genome.wustl.edu 37 2 173338908 173338910 + In_Frame_Del DEL CTC CTC - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 173338908 173338910 CTC - DEL ITGA6 ENST00000264106 human ensembl 74_37 +1 known in_frame_del c.1018_1020 p.L341in_frame_del 0.493:0.465:0.027 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ENSG00000091409 120 0 0 88 39 30.7087 SMC6 0 genome.wustl.edu 37 2 17898125 17898126 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 17898125 17898126 - T INS SMC6 ENST00000381272 human ensembl 74_37 -1 known frame_shift_ins c.1307_1306 p.I436fs 0.994:1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 58 0 0 81 15 15.625 TTN-AS1 0 genome.wustl.edu 37 2 179497149 179497149 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 179497149 179497149 A - DEL TTN-AS1 ENST00000589907 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors TTN-AS1 HGNC ENSG00000237298 23 0 0 19 11 36.6667 UBE2E3 0 genome.wustl.edu 37 2 181846888 181846890 + In_Frame_Del DEL CTT CTT - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 181846888 181846890 CTT - DEL UBE2E3 ENST00000392415 human ensembl 74_37 +1 known in_frame_del c.119_121 p.S41in_frame_del 1.000:1.000:1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2E3 HGNC ENSG00000170035 105 0 0 134 42 23.8636 CERKL 0 genome.wustl.edu 37 2 182468750 182468751 + Frame_Shift_Del DEL AT AT - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 182468750 182468751 AT - DEL CERKL ENST00000339098 human ensembl 74_37 -1 known frame_shift_del c.295_294 p.F99fs 1.000:1.000 NULL pfam_Diacylglycerol_kinase_cat_dom - no_errors CERKL HGNC ENSG00000188452 23 0 0 30 15 33.3333 GLS 0 genome.wustl.edu 37 2 191797646 191797646 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 191797646 191797646 T - DEL GLS ENST00000471443 human ensembl 74_37 +1 putative rna NULL NULL 0.013 - - - no_errors GLS HGNC ENSG00000115419 14 0 0 26 7 21.2121 STAT1 0 genome.wustl.edu 37 2 191847230 191847232 + In_Frame_Del DEL GAA GAA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 191847230 191847232 GAA - DEL STAT1 ENST00000361099 human ensembl 74_37 -1 known in_frame_del c.1461_1459 p.F487in_frame_del 1.000:1.000:1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 125 0 0 138 46 25 CCDC150 0 genome.wustl.edu 37 2 197531519 197531520 + Frame_Shift_Del DEL AA AA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 197531519 197531520 AA - DEL CCDC150 ENST00000389175 human ensembl 74_37 +1 known frame_shift_del c.839_840 p.K283fs 0.374:0.000 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 42 0 0 43 21 32.8125 COQ10B 0 genome.wustl.edu 37 2 198318518 198318518 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 198318518 198318518 T - DEL COQ10B ENST00000488445 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors COQ10B HGNC ENSG00000115520 13 0 0 11 4 26.6667 ENSG00000257045 0 genome.wustl.edu 37 2 200193649 200193649 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 200193649 200193649 A - DEL ENSG00000257045 ENST00000489557 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-486F17.1 Clone_based_vega_gene ENSG00000257045 29 0 0 28 14 33.3333 SGOL2 0 genome.wustl.edu 37 2 201437004 201437004 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 201437004 201437004 T - DEL SGOL2 ENST00000357799 human ensembl 74_37 +1 known frame_shift_del c.1935 p.F648fs 0.016 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 188 0 0 223 75 25.1678 BZW1 0 genome.wustl.edu 37 2 201683505 201683505 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 201683505 201683505 A - DEL BZW1 ENST00000409600 human ensembl 74_37 +1 known frame_shift_del c.847 p.N285fs 1.000 superfamily_ARM-type_fold pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW1 HGNC ENSG00000082153 80 0 0 74 29 28.1553 PARD3B 0 genome.wustl.edu 37 2 206166298 206166298 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 206166298 206166298 A - DEL PARD3B ENST00000406610 human ensembl 74_37 +1 known frame_shift_del c.2503 p.T837fs 0.996 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 95 0 0 97 37 27.6119 ADAM23 0 genome.wustl.edu 37 2 207310055 207310055 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 207310055 207310055 A - DEL ADAM23 ENST00000264377 human ensembl 74_37 +1 known frame_shift_del c.239 p.N82fs 0.994 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 139 0 0 116 70 37.6344 METTL21A 0 genome.wustl.edu 37 2 208477876 208477878 + In_Frame_Del DEL AAG AAG - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 208477876 208477878 AAG - DEL METTL21A ENST00000406927 human ensembl 74_37 -1 known in_frame_del c.551_549 p.F183in_frame_del 1.000:1.000:1.000 pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom - no_errors METTL21A HGNC ENSG00000144401 282 0 0 223 110 33.033 KANSL1L 0 genome.wustl.edu 37 2 210887680 210887680 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 210887680 210887680 T - DEL KANSL1L ENST00000281772 human ensembl 74_37 -1 known frame_shift_del c.2957 p.N986fs 0.980 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 61 0 0 68 29 29.8969 CCDC108 0 genome.wustl.edu 37 2 219892637 219892637 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 219892637 219892637 G - DEL CCDC108 ENST00000341552 human ensembl 74_37 -1 known frame_shift_del c.1946 p.P649fs 0.959 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 102 0 0 71 37 34.2593 LOC101927958 0 genome.wustl.edu 37 2 239164119 239164120 + RNA INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 239164119 239164120 - C INS LOC101927958 ENST00000456601 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors AC096574.4 Clone_based_vega_gene ENSG00000225057 19 0 0 15 5 25 PPP1R7 0 genome.wustl.edu 37 2 242092999 242092999 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 242092999 242092999 G - DEL PPP1R7 ENST00000234038 human ensembl 74_37 +1 known frame_shift_del c.161 p.E56fs 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors PPP1R7 HGNC ENSG00000115685 176 0 0 120 58 32.5843 CENPO 0 genome.wustl.edu 37 2 25016261 25016261 + RNA DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 25016261 25016261 G - DEL CENPO ENST00000473476 human ensembl 74_37 +1 putative rna NULL NULL 0.132 - - - no_errors CENPO HGNC ENSG00000138092 161 0 0 167 32 16.0804 ZFP36L2 0 genome.wustl.edu 37 2 43452623 43452623 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 43452623 43452623 C - DEL ZFP36L2 ENST00000282388 human ensembl 74_37 -1 known frame_shift_del c.320 p.G107fs 1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 11 0 0 33 4 10.8108 SPTBN1 0 genome.wustl.edu 37 2 54895695 54895695 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 54895695 54895695 A - DEL SPTBN1 ENST00000356805 human ensembl 74_37 +1 known frame_shift_del c.7084 p.K2363fs 1.000 pirsf_Spectrin_bsu 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 31 0 0 26 10 27.7778 CCDC88A 0 genome.wustl.edu 37 2 55561924 55561925 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 55561924 55561925 - T INS CCDC88A ENST00000436346 human ensembl 74_37 -1 known frame_shift_ins c.2033_2032 p.T678fs 0.998:1.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 51 0 0 58 23 28.3951 EHBP1 0 genome.wustl.edu 37 2 63176204 63176205 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 63176204 63176205 - A INS EHBP1 ENST00000263991 human ensembl 74_37 +1 known frame_shift_ins c.2328_2329 p.H778fs 1.000:1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 101 0 0 108 46 29.8701 AFTPH 0 genome.wustl.edu 37 2 64779844 64779844 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 64779844 64779844 A - DEL AFTPH ENST00000422803 human ensembl 74_37 +1 known frame_shift_del c.1236 p.N414fs 0.741 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 183 1 0.543478 146 94 39.1667 MEIS1 0 genome.wustl.edu 37 2 66798467 66798467 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 66798467 66798467 C - DEL MEIS1 ENST00000407092 human ensembl 74_37 +1 known frame_shift_del c.1204 p.H404fs 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS1 HGNC ENSG00000143995 14 0 0 21 9 30 FBXO48 0 genome.wustl.edu 37 2 68692195 68692195 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 68692195 68692195 T - DEL FBXO48 ENST00000377957 human ensembl 74_37 -1 known frame_shift_del c.83 p.N28fs 0.001 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO48 HGNC ENSG00000204923 89 0 0 110 32 22.5352 ADD2 0 genome.wustl.edu 37 2 70933540 70933540 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 70933540 70933540 T - DEL ADD2 ENST00000264436 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 105 0 0 97 22 18.4874 RNF144A 0 genome.wustl.edu 37 2 7160687 7160688 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 7160687 7160688 - C INS RNF144A ENST00000320892 human ensembl 74_37 +1 known frame_shift_ins c.385_386 p.Q131fs 0.997:0.991 pfam_Znf_C6HC,smart_Znf_C6HC pfam_Znf_C6HC,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF144A HGNC ENSG00000151692 142 0 0 136 30 18.0723 TPRKB 0 genome.wustl.edu 37 2 73957881 73957881 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 73957881 73957881 A - DEL TPRKB ENST00000485758 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors TPRKB HGNC ENSG00000144034 30 0 0 43 22 33.8462 TET3 0 genome.wustl.edu 37 2 74274090 74274090 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 74274090 74274090 A - DEL TET3 ENST00000409262 human ensembl 74_37 +1 known frame_shift_del c.641 p.N216fs 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 77 0 0 77 21 21.4286 DQX1 0 genome.wustl.edu 37 2 74747154 74747155 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 74747154 74747155 - G INS DQX1 ENST00000393951 human ensembl 74_37 -1 known frame_shift_ins c.1503_1502 p.G502fs 1.000:1.000 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 166 0 0 133 37 21.7647 GGCX 0 genome.wustl.edu 37 2 85780733 85780733 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 85780733 85780733 T - DEL GGCX ENST00000482662 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors GGCX HGNC ENSG00000115486 29 0 0 20 6 23.0769 FAHD2CP 0 genome.wustl.edu 37 2 96687157 96687157 + RNA DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 96687157 96687157 C - DEL FAHD2CP ENST00000443258 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FAHD2CP HGNC ENSG00000231584 26 0 0 28 5 15.1515 UNC50 0 genome.wustl.edu 37 2 99232795 99232795 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 99232795 99232795 T - DEL UNC50 ENST00000409347 human ensembl 74_37 +1 known frame_shift_del c.578 p.F195fs 0.997 pfam_UNC-50 pfam_UNC-50 - no_errors UNC50 HGNC ENSG00000115446 239 0 0 224 102 31.2883 TAF1B 0 genome.wustl.edu 37 2 9989571 9989571 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 2 9989571 9989571 A - DEL TAF1B ENST00000263663 human ensembl 74_37 +1 known frame_shift_del c.187 p.N66fs 0.991 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 13 0 0 17 5 22.7273 ENSG00000232675 0 genome.wustl.edu 37 20 19673863 19673863 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 19673863 19673863 T - DEL ENSG00000232675 ENST00000435992 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-718D20.3 Clone_based_vega_gene ENSG00000232675 37 0 0 34 23 40.3509 RIN2 0 genome.wustl.edu 37 20 19955586 19955586 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 19955586 19955586 C - DEL RIN2 ENST00000255006 human ensembl 74_37 +1 known frame_shift_del c.1064 p.P357fs 0.999 NULL pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 47 0 0 70 17 19.5402 CRNKL1 0 genome.wustl.edu 37 20 20016830 20016830 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 20016830 20016830 A - DEL CRNKL1 ENST00000521379 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors CRNKL1 HGNC ENSG00000101343 127 0 0 135 66 32.8358 GZF1 0 genome.wustl.edu 37 20 23345195 23345195 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 23345195 23345195 T - DEL GZF1 ENST00000338121 human ensembl 74_37 +1 known frame_shift_del c.175 p.F60fs 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_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 GZF1 HGNC ENSG00000125812 88 0 0 92 42 31.3433 ENSG00000226465 0 genome.wustl.edu 37 20 25733370 25733370 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 25733370 25733370 A - DEL ENSG00000226465 ENST00000376445 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP13-401N8.1 Clone_based_vega_gene ENSG00000226465 104 0 0 126 7 5.26316 HM13 0 genome.wustl.edu 37 20 30142485 30142486 + RNA DEL AA AA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 30142485 30142486 AA - DEL HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.172:0.159 - - - no_errors HM13 HGNC ENSG00000101294 32 0 0 20 10 33.3333 OXT 0 genome.wustl.edu 37 20 3052728 3052728 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 3052728 3052728 C - DEL OXT ENST00000217386 human ensembl 74_37 +1 known frame_shift_del c.126 p.C44fs 1.000 pirsf_Neurhyp_horm,pfam_Neurhyp_horm,superfamily_Neurhyp_horm,smart_Neurhyp_horm,prints_Neurhyp_horm pirsf_Neurhyp_horm,pfam_Neurhyp_horm,superfamily_Neurhyp_horm,smart_Neurhyp_horm,prints_Neurhyp_horm - no_errors OXT HGNC ENSG00000101405 9 0 0 7 5 41.6667 ASXL1 0 genome.wustl.edu 37 20 31017181 31017182 + Frame_Shift_Del DEL GA GA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 31017181 31017182 GA - DEL ASXL1 ENST00000375687 human ensembl 74_37 +1 known frame_shift_del c.512_513 p.V172fs 1.000:0.997 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 95 0 0 79 31 28.1818 ASXL1 0 genome.wustl.edu 37 20 31022442 31022442 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 31022442 31022442 G - DEL ASXL1 ENST00000375687 human ensembl 74_37 +1 known frame_shift_del c.1927 p.G645fs 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 24 0 0 28 2 6.66667 ACSS2 0 genome.wustl.edu 37 20 33502206 33502206 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 33502206 33502206 C - DEL ACSS2 ENST00000253382 human ensembl 74_37 +1 known frame_shift_del c.800 p.P269fs 0.850 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS2 HGNC ENSG00000131069 61 0 0 76 5 6.17284 TTI1 0 genome.wustl.edu 37 20 36627613 36627613 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 36627613 36627613 G - DEL TTI1 ENST00000373447 human ensembl 74_37 -1 known frame_shift_del c.2770 p.L924fs 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 110 0 0 118 45 27.6074 PANK2 0 genome.wustl.edu 37 20 3893120 3893120 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 3893120 3893120 T - DEL PANK2 ENST00000316562 human ensembl 74_37 +1 known frame_shift_del c.1251 p.F419fs 0.827 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK2 HGNC ENSG00000125779 481 1 0.207469 380 161 29.7597 PTPRT 0 genome.wustl.edu 37 20 40739003 40739003 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 40739003 40739003 G - DEL PTPRT ENST00000373198 human ensembl 74_37 -1 known frame_shift_del c.3281 p.P1094fs 0.991 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,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 PTPRT HGNC ENSG00000196090 76 0 0 82 30 26.7857 DDX27 0 genome.wustl.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 47858504 47858504 A - DEL DDX27 ENST00000371764 human ensembl 74_37 +1 known frame_shift_del c.2065 p.K691fs 1.000 NULL 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 DDX27 HGNC ENSG00000124228 141 0 0 134 64 32.3232 ADNP 0 genome.wustl.edu 37 20 49508204 49508204 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 49508204 49508204 T - DEL ADNP ENST00000349014 human ensembl 74_37 -1 known frame_shift_del c.3047 p.K1016fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 203 0 0 191 83 30.292 ZNF831 0 genome.wustl.edu 37 20 57769139 57769140 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 57769139 57769140 - G INS ZNF831 ENST00000371030 human ensembl 74_37 +1 novel frame_shift_ins c.3065_3066 p.D1025fs 0.000:0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 41 0 0 53 11 17.1875 SYCP2 0 genome.wustl.edu 37 20 58467740 58467741 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 58467740 58467741 - T INS SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_ins c.1810_1809 p.D603fs 0.038:0.014 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 60 0 0 65 32 32.9897 PLCB1 0 genome.wustl.edu 37 20 8703048 8703048 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 20 8703048 8703048 A - DEL PLCB1 ENST00000338037 human ensembl 74_37 +1 known frame_shift_del c.1561 p.K522fs 1.000 pirsf_PLC-beta,superfamily_PLC-like_Pdiesterase_TIM-brl 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 220 0 0 234 81 25.7143 TPTE 0 genome.wustl.edu 37 21 10944697 10944697 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 10944697 10944697 A - DEL TPTE ENST00000361285 human ensembl 74_37 -1 known frame_shift_del c.537 p.F179fs 0.335 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 343 1 0.290698 352 56 13.7255 NRIP1 0 genome.wustl.edu 37 21 16338326 16338327 + Frame_Shift_Del DEL TC TC - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 16338326 16338327 TC - DEL NRIP1 ENST00000318948 human ensembl 74_37 -1 known frame_shift_del c.2188_2187 p.K730fs 0.086:0.086 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 103 0 0 95 29 23.3871 NRIP1 0 genome.wustl.edu 37 21 16338330 16338330 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 16338330 16338330 T - DEL NRIP1 ENST00000318948 human ensembl 74_37 -1 known frame_shift_del c.2184 p.E729fs 0.998 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 103 0 0 94 35 27.1318 DNAJC28 0 genome.wustl.edu 37 21 34861335 34861336 + In_Frame_Ins INS - - TCT TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 34861335 34861336 - TCT INS DNAJC28 ENST00000314399 human ensembl 74_37 -1 known in_frame_ins c.366_365 p.122in_frame_insE 0.819:1.000 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 96 0 0 118 44 27.1605 ITSN1 0 genome.wustl.edu 37 21 35094910 35094910 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 35094910 35094910 T - DEL ITSN1 ENST00000381285 human ensembl 74_37 +1 known frame_shift_del c.139 p.Q50fs 1.000 smart_EPS15_homology,pfscan_EPS15_homology pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 94 0 0 86 45 34.3511 TTC3 0 genome.wustl.edu 37 21 38460480 38460480 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 38460480 38460480 T - DEL TTC3 ENST00000484047 human ensembl 74_37 +1 known rna NULL NULL 0.813 - - - no_errors TTC3 HGNC ENSG00000182670 17 0 0 19 10 34.4828 FLJ45139 0 genome.wustl.edu 37 21 40250362 40250362 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 40250362 40250362 A - DEL FLJ45139 ENST00000380931 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AF064858.6 Clone_based_vega_gene ENSG00000205622 28 0 0 18 12 40 PDE9A 0 genome.wustl.edu 37 21 44195538 44195539 + RNA DEL AA AA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 44195538 44195539 AA - DEL PDE9A ENST00000460989 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors PDE9A HGNC ENSG00000160191 21 0 0 27 5 15.625 DNMT3L 0 genome.wustl.edu 37 21 45666330 45666330 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 45666330 45666330 G - DEL DNMT3L ENST00000270172 human ensembl 74_37 -1 known frame_shift_del c.1114 p.L372fs 0.916 NULL superfamily_Znf_FYVE_PHD - no_errors DNMT3L HGNC ENSG00000142182 104 0 0 101 54 34.8387 KRTAP10-1 0 genome.wustl.edu 37 21 45959500 45959500 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 45959500 45959500 G - DEL KRTAP10-1 ENST00000400375 human ensembl 74_37 -1 known frame_shift_del c.534 p.C179fs 0.977 NULL NULL - no_errors KRTAP10-1 HGNC ENSG00000215455 233 0 0 275 80 22.5352 UBE2G2 0 genome.wustl.edu 37 21 46191156 46191157 + RNA DEL AA AA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 46191156 46191157 AA - DEL UBE2G2 ENST00000477954 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors UBE2G2 HGNC ENSG00000184787 15 0 0 17 12 41.3793 MCM3AP-AS1 0 genome.wustl.edu 37 21 47662900 47662902 + RNA DEL AAA AAA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 21 47662900 47662902 AAA - DEL MCM3AP-AS1 ENST00000421927 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors MCM3AP-AS1 HGNC ENSG00000215424 46 0 0 77 7 8.33333 CCT8L2 0 genome.wustl.edu 37 22 17071787 17071787 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 17071787 17071787 T - DEL CCT8L2 ENST00000359963 human ensembl 74_37 -1 known frame_shift_del c.1654 p.I552fs 0.000 NULL pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 152 0 0 124 81 39.5122 GAB4 0 genome.wustl.edu 37 22 17488852 17488852 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 17488852 17488852 G - DEL GAB4 ENST00000400588 human ensembl 74_37 -1 known frame_shift_del c.153 p.E52fs 0.067 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 10 0 0 16 6 27.2727 RFPL2 0 genome.wustl.edu 37 22 32586740 32586741 + RNA INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 32586740 32586741 - T INS RFPL2 ENST00000489846 human ensembl 74_37 -1 putative rna NULL NULL 0.050:0.039 - - - no_errors RFPL2 HGNC ENSG00000128253 170 0 0 159 58 26.7281 TIMP3 0 genome.wustl.edu 37 22 33255324 33255324 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 33255324 33255324 C - DEL TIMP3 ENST00000266085 human ensembl 74_37 +1 known frame_shift_del c.596 p.P201fs 0.990 NULL pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP3 HGNC ENSG00000100234 46 0 0 75 17 18.4783 BAIAP2L2 0 genome.wustl.edu 37 22 38503898 38503899 + Frame_Shift_Del DEL AG AG - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 38503898 38503899 AG - DEL BAIAP2L2 ENST00000381669 human ensembl 74_37 -1 known frame_shift_del c.237_236 p.S79fs 0.313:0.989 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L2 HGNC ENSG00000128298 168 0 0 128 64 33.3333 EP300 0 genome.wustl.edu 37 22 41545781 41545782 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 41545781 41545782 - T INS EP300 ENST00000263253 human ensembl 74_37 +1 known frame_shift_ins c.2396_2397 p.S800fs 1.000:1.000 NULL 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 EP300 HGNC ENSG00000100393 82 0 0 65 32 32.9897 RRP7B 0 genome.wustl.edu 37 22 42972105 42972107 + RNA DEL CCT CCT - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 42972105 42972107 CCT - DEL RRP7B ENST00000357802 human ensembl 74_37 -1 known rna NULL NULL 1.000:0.990:1.000 - - - no_errors RRP7B HGNC ENSG00000182841 28 0 0 33 7 17.5 TBC1D22A 0 genome.wustl.edu 37 22 47188443 47188444 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 47188443 47188444 - C INS TBC1D22A ENST00000337137 human ensembl 74_37 +1 known frame_shift_ins c.89_90 p.F33fs 1.000:1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22A HGNC ENSG00000054611 223 0 0 201 80 28.4698 ZBED4 0 genome.wustl.edu 37 22 50280682 50280682 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 22 50280682 50280682 C - DEL ZBED4 ENST00000216268 human ensembl 74_37 +1 known frame_shift_del c.3372 p.P1126fs 0.983 pfam_HATC_dom_C,superfamily_RNaseH-like_dom 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 69 0 0 56 29 34.1176 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 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 ZBTB20 HGNC ENSG00000181722 102 0 0 107 52 32.7044 C3orf30 0 genome.wustl.edu 37 3 118866406 118866406 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 118866406 118866406 A - DEL C3orf30 ENST00000295622 human ensembl 74_37 +1 known frame_shift_del c.1370 p.T459fs 0.286 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C3orf30 HGNC ENSG00000163424 121 0 0 110 16 12.6984 FBXO40 0 genome.wustl.edu 37 3 121340411 121340412 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 121340411 121340412 - T INS FBXO40 ENST00000338040 human ensembl 74_37 +1 known frame_shift_ins c.135_136 p.H46fs 0.998:1.000 superfamily_TRAF-like superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO40 HGNC ENSG00000163833 124 0 0 144 67 31.7536 TF 0 genome.wustl.edu 37 3 133476714 133476714 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 133476714 133476714 C - DEL TF ENST00000402696 human ensembl 74_37 +1 known frame_shift_del c.972 p.R327fs 0.032 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 126 0 0 105 33 23.913 NUP210 0 genome.wustl.edu 37 3 13378471 13378471 + RNA DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 13378471 13378471 C - DEL NUP210 ENST00000485755 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors NUP210 HGNC ENSG00000132182 79 0 0 67 22 24.7191 MSL2 0 genome.wustl.edu 37 3 135871342 135871344 + In_Frame_Del DEL AGA AGA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 135871342 135871344 AGA - DEL MSL2 ENST00000309993 human ensembl 74_37 -1 known in_frame_del c.381_379 p.S127in_frame_del 0.999:1.000:1.000 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 232 0 0 205 70 25.4545 STAG1 0 genome.wustl.edu 37 3 136240261 136240262 + Splice_Site INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 136240261 136240262 - A INS STAG1 ENST00000383202 human ensembl 74_37 -1 known splice_site_ins c.472-3_472-2 e6-2 1.000:0.988 - - - no_errors STAG1 HGNC ENSG00000118007 94 0 0 108 33 23.4043 ENSG00000244327 0 genome.wustl.edu 37 3 142184164 142184165 + RNA DEL AA AA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 142184164 142184165 AA - DEL ENSG00000244327 ENST00000460977 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors RP11-383G6.3 Clone_based_vega_gene ENSG00000244327 12 0 0 27 7 20.5882 ATR 0 genome.wustl.edu 37 3 142217557 142217557 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 142217557 142217557 T - DEL ATR ENST00000350721 human ensembl 74_37 -1 known frame_shift_del c.5440 p.R1814fs 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 72 0 0 66 24 26.6667 PLSCR1 0 genome.wustl.edu 37 3 146234963 146234963 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 146234963 146234963 A - DEL PLSCR1 ENST00000484560 human ensembl 74_37 -1 putative rna NULL NULL 0.163 - - - no_errors PLSCR1 HGNC ENSG00000188313 38 0 0 32 40 55.5556 NR2C2 0 genome.wustl.edu 37 3 15084406 15084406 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 15084406 15084406 T - DEL NR2C2 ENST00000323373 human ensembl 74_37 +1 known frame_shift_del c.1739 p.F582fs 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd 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_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 70 0 0 77 11 12.5 P2RY12 0 genome.wustl.edu 37 3 151055936 151055936 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 151055936 151055936 T - DEL P2RY12 ENST00000302632 human ensembl 74_37 -1 known frame_shift_del c.698 p.K233fs 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y12_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y12_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors P2RY12 HGNC ENSG00000169313 100 0 0 82 40 32.7869 NMD3 0 genome.wustl.edu 37 3 160964183 160964183 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 160964183 160964183 T - DEL NMD3 ENST00000351193 human ensembl 74_37 +1 known frame_shift_del c.1077 p.C361fs 1.000 NULL pfam_NMD3 - no_errors NMD3 HGNC ENSG00000169251 58 0 0 68 32 32 USP13 0 genome.wustl.edu 37 3 179472611 179472611 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 179472611 179472611 C - DEL USP13 ENST00000263966 human ensembl 74_37 +1 known frame_shift_del c.1890 p.I633fs 0.990 pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP13 HGNC ENSG00000058056 184 0 0 139 46 24.8649 FETUB 0 genome.wustl.edu 37 3 186362544 186362544 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 186362544 186362544 A - DEL FETUB ENST00000265029 human ensembl 74_37 +1 known frame_shift_del c.429 p.K146fs 0.854 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC ENSG00000090512 229 1 0.434783 200 71 26.1993 BCL6 0 genome.wustl.edu 37 3 187446269 187446270 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 187446269 187446270 - G INS BCL6 ENST00000232014 human ensembl 74_37 -1 known frame_shift_ins c.1419_1418 p.K474fs 0.430:0.891 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 51 0 0 53 10 15.873 ENSG00000234136 0 genome.wustl.edu 37 3 197557556 197557557 + RNA INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 197557556 197557557 - T INS ENSG00000234136 ENST00000454526 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AC055764.1 Clone_based_vega_gene ENSG00000234136 24 0 0 31 12 27.907 CLASP2 0 genome.wustl.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 33602361 33602361 T - DEL CLASP2 ENST00000399362 human ensembl 74_37 -1 known frame_shift_del c.2890 p.M964fs 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 238 0 0 199 86 30.1754 GOLGA4 0 genome.wustl.edu 37 3 37360697 37360697 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 37360697 37360697 T - DEL GOLGA4 ENST00000435830 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors GOLGA4 HGNC ENSG00000144674 61 0 0 57 31 35.2273 PTPN23 0 genome.wustl.edu 37 3 47451532 47451532 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 47451532 47451532 C - DEL PTPN23 ENST00000265562 human ensembl 74_37 +1 known frame_shift_del c.2244 p.P750fs 1.000 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 22 0 0 20 10 33.3333 TREX1 0 genome.wustl.edu 37 3 48508191 48508192 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 48508191 48508192 - C INS TREX1 ENST00000422277 human ensembl 74_37 +1 known frame_shift_ins c.302_303 p.T104fs 0.212:0.073 superfamily_RNaseH-like_dom,smart_Exonuclease superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors TREX1 HGNC ENSG00000213689 189 0 0 184 53 22.3629 TMEM89 0 genome.wustl.edu 37 3 48659073 48659073 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 48659073 48659073 C - DEL TMEM89 ENST00000330862 human ensembl 74_37 -1 known frame_shift_del c.117 p.C40fs 0.996 NULL NULL - no_errors TMEM89 HGNC ENSG00000183396 71 0 0 85 18 17.4757 APEH 0 genome.wustl.edu 37 3 49714427 49714427 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 49714427 49714427 C - DEL APEH ENST00000296456 human ensembl 74_37 +1 known frame_shift_del c.969 p.H325fs 0.007 NULL pfam_Peptidase_S9,pfam_AB_hydrolase_1,pfam_Dienelactn_hydro - no_errors APEH HGNC ENSG00000164062 116 0 0 105 35 25 RBM6 0 genome.wustl.edu 37 3 50005145 50005145 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 50005145 50005145 G - DEL RBM6 ENST00000266022 human ensembl 74_37 +1 known frame_shift_del c.287 p.G98fs 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 171 0 0 155 50 24.3902 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 91 0 0 99 25 20.1613 VPRBP 0 genome.wustl.edu 37 3 51457447 51457448 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 51457447 51457448 - T INS VPRBP ENST00000335891 human ensembl 74_37 -1 known frame_shift_ins c.1630_1629 p.Q543fs 1.000:1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC ENSG00000145041 413 1 0.241546 361 122 25.2588 APPL1 0 genome.wustl.edu 37 3 57276921 57276921 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 57276921 57276921 A - DEL APPL1 ENST00000288266 human ensembl 74_37 +1 known frame_shift_del c.453 p.R154fs 0.881 NULL pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL1 HGNC ENSG00000157500 74 0 0 90 35 28 DENND6A 0 genome.wustl.edu 37 3 57619023 57619023 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 57619023 57619023 A - DEL DENND6A ENST00000311128 human ensembl 74_37 -1 known frame_shift_del c.1322 p.L441fs 1.000 pfam_Afi1_N pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom - no_errors DENND6A HGNC ENSG00000174839 92 0 0 75 37 33.0357 FAM86DP 0 genome.wustl.edu 37 3 75480039 75480040 + RNA INS - - CA TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 75480039 75480040 - CA INS FAM86DP ENST00000459803 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors FAM86DP HGNC ENSG00000244026 61 0 0 42 16 27.5862 ROBO2 0 genome.wustl.edu 37 3 77147335 77147335 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 77147335 77147335 C - DEL ROBO2 ENST00000461745 human ensembl 74_37 +1 known frame_shift_del c.232 p.R79fs 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 101 0 0 105 26 19.8473 RAD18 0 genome.wustl.edu 37 3 8944121 8944121 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 8944121 8944121 T - DEL RAD18 ENST00000264926 human ensembl 74_37 -1 known frame_shift_del c.1111 p.T371fs 0.000 NULL pfam_SAP_dom,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_dom,pfscan_Znf_RING,pfscan_SAP_dom - no_errors RAD18 HGNC ENSG00000070950 116 0 0 117 57 32.7586 FILIP1L 0 genome.wustl.edu 37 3 99568273 99568273 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 3 99568273 99568273 T - DEL FILIP1L ENST00000354552 human ensembl 74_37 -1 known frame_shift_del c.2247 p.K749fs 1.000 superfamily_Prefoldin pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 269 0 0 249 100 28.6533 ADH6 0 genome.wustl.edu 37 4 100137214 100137214 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 100137214 100137214 T - DEL ADH6 ENST00000513262 human ensembl 74_37 -1 putative rna NULL NULL 0.050 - - - no_errors ADH6 HGNC ENSG00000172955 18 0 0 24 16 40 LARP7 0 genome.wustl.edu 37 4 113578483 113578483 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 113578483 113578483 A - DEL LARP7 ENST00000324052 human ensembl 74_37 +1 known frame_shift_del c.1749 p.*583fs 1.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 27 0 0 19 5 20.8333 TRAM1L1 0 genome.wustl.edu 37 4 118005517 118005517 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 118005517 118005517 T - DEL TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known frame_shift_del c.1033 p.R345fs 1.000 pirsf_Translocation_assoc_membrane pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 343 0 0 368 130 26.1044 SPATA5 0 genome.wustl.edu 37 4 123859335 123859335 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 123859335 123859335 G - DEL SPATA5 ENST00000274008 human ensembl 74_37 +1 known frame_shift_del c.1389 p.A465fs 1.000 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors SPATA5 HGNC ENSG00000145375 212 0 0 201 86 29.9652 SCLT1 0 genome.wustl.edu 37 4 129869675 129869675 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 129869675 129869675 T - DEL SCLT1 ENST00000281142 human ensembl 74_37 -1 known frame_shift_del c.1269 p.A424fs 1.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 64 0 0 62 35 36.0825 TBC1D9 0 genome.wustl.edu 37 4 141598226 141598231 + In_Frame_Del DEL CTCTCA CTCTCA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 CTCTCA CTCTCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 141598226 141598231 CTCTCA - DEL TBC1D9 ENST00000442267 human ensembl 74_37 -1 known in_frame_del c.881_876 p.SE292in_frame_del 1.000:0.997:1.000:1.000:1.000:0.929 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 TBC1D9 HGNC ENSG00000109436 226 0 0 199 58 22.5681 SMARCA5 0 genome.wustl.edu 37 4 144467118 144467118 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 144467118 144467118 A - DEL SMARCA5 ENST00000283131 human ensembl 74_37 +1 known frame_shift_del c.2438 p.E815fs 1.000 pfam_ISWI_HAND-dom,superfamily_ISWI_HAND-dom pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC ENSG00000153147 179 0 0 177 65 26.8595 HHIP 0 genome.wustl.edu 37 4 145627734 145627734 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 145627734 145627734 A - DEL HHIP ENST00000296575 human ensembl 74_37 +1 known frame_shift_del c.883 p.N296fs 1.000 superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 39 0 0 35 17 32.6923 ABCE1 0 genome.wustl.edu 37 4 146041093 146041093 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 146041093 146041093 T - DEL ABCE1 ENST00000296577 human ensembl 74_37 +1 known frame_shift_del c.932 p.L313fs 1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E - no_errors ABCE1 HGNC ENSG00000164163 47 0 0 61 39 39 RBM46 0 genome.wustl.edu 37 4 155720146 155720146 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 155720146 155720146 T - DEL RBM46 ENST00000281722 human ensembl 74_37 +1 known frame_shift_del c.832 p.F279fs 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 RBM46 HGNC ENSG00000151962 61 0 0 61 31 33.6957 DDX60L 0 genome.wustl.edu 37 4 169292766 169292766 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 169292766 169292766 T - DEL DDX60L ENST00000260184 human ensembl 74_37 -1 known frame_shift_del c.4925 p.N1642fs 0.479 NULL 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 - no_errors DDX60L HGNC ENSG00000181381 10 0 0 2 4 66.6667 HAND2 0 genome.wustl.edu 37 4 174450193 174450194 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 174450193 174450194 - C INS HAND2 ENST00000359562 human ensembl 74_37 -1 known frame_shift_ins c.248_247 p.V83fs 1.000:1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors HAND2 HGNC ENSG00000164107 10 0 0 4 2 33.3333 QDPR 0 genome.wustl.edu 37 4 17513588 17513588 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 17513588 17513588 A - DEL QDPR ENST00000281243 human ensembl 74_37 -1 known frame_shift_del c.90 p.R31fs 1.000 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR - no_errors QDPR HGNC ENSG00000151552 29 0 0 24 8 25 POLN 0 genome.wustl.edu 37 4 2200403 2200403 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 2200403 2200403 T - DEL POLN ENST00000382865 human ensembl 74_37 -1 known frame_shift_del c.756 p.K252fs 0.001 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A - no_errors POLN HGNC ENSG00000130997 155 0 0 146 47 24.3523 FAM193A 0 genome.wustl.edu 37 4 2661592 2661593 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 2661592 2661593 - C INS FAM193A ENST00000324666 human ensembl 74_37 +1 known frame_shift_ins c.683_684 p.V231fs 1.000:0.995 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 222 0 0 258 41 13.7124 GRK4 0 genome.wustl.edu 37 4 2986251 2986251 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 2986251 2986251 A - DEL GRK4 ENST00000398052 human ensembl 74_37 +1 known frame_shift_del c.64 p.S24fs 0.983 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 104 0 0 84 33 28.2051 DOK7 0 genome.wustl.edu 37 4 3494970 3494970 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 3494970 3494970 C - DEL DOK7 ENST00000389653 human ensembl 74_37 +1 known frame_shift_del c.1257 p.S422fs 0.007 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK7 HGNC ENSG00000175920 30 0 0 32 7 17.9487 SLAIN2 0 genome.wustl.edu 37 4 48371975 48371975 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 48371975 48371975 A - DEL SLAIN2 ENST00000264313 human ensembl 74_37 +1 known frame_shift_del c.499 p.K168fs 1.000 NULL NULL - no_errors SLAIN2 HGNC ENSG00000109171 37 0 0 46 26 36.1111 C4orf6 0 genome.wustl.edu 37 4 5527116 5527116 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 5527116 5527116 T - DEL C4orf6 ENST00000195455 human ensembl 74_37 +1 known frame_shift_del c.59 p.F23fs 0.077 NULL NULL - no_errors C4orf6 HGNC ENSG00000082929 46 0 0 15 51 77.2727 IGFBP7 0 genome.wustl.edu 37 4 57897251 57897251 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 57897251 57897251 A - DEL IGFBP7 ENST00000512512 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors IGFBP7 HGNC ENSG00000163453 20 0 0 28 9 24.3243 IGFBP7 0 genome.wustl.edu 37 4 57898593 57898593 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 57898593 57898593 T - DEL IGFBP7 ENST00000295666 human ensembl 74_37 -1 known frame_shift_del c.828 p.G277fs 1.000 pirsf_IGFBP_rP_mac25 pfam_Ig_I-set,pfam_Kazal_dom,pfam_IGFBP-like,smart_IGFBP-like,smart_Kazal_dom,smart_Ig_sub,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom - no_errors IGFBP7 HGNC ENSG00000163453 68 0 0 62 23 27.0588 CENPC 0 genome.wustl.edu 37 4 68384936 68384936 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 68384936 68384936 T - DEL CENPC ENST00000273853 human ensembl 74_37 -1 known frame_shift_del c.616 p.R206fs 1.000 NULL pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC HGNC ENSG00000145241 85 0 0 60 30 33.3333 STAP1 0 genome.wustl.edu 37 4 68456664 68456664 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 68456664 68456664 A - DEL STAP1 ENST00000265404 human ensembl 74_37 +1 known frame_shift_del c.722 p.K242fs 1.000 smart_SH2,pfscan_SH2 pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors STAP1 HGNC ENSG00000035720 68 0 0 56 30 34.8837 SLC4A4 0 genome.wustl.edu 37 4 72338798 72338798 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 72338798 72338798 T - DEL SLC4A4 ENST00000512686 human ensembl 74_37 +1 novel frame_shift_del c.1882 p.S630fs 0.000 NULL pfam_Band3_cytoplasmic_dom,pfam_HCO3_transpt_C,superfamily_PTrfase/Anion_transptr,prints_Na/HCO3_transpt,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 20 0 0 27 8 22.8571 EREG 0 genome.wustl.edu 37 4 75246761 75246762 + Frame_Shift_Del DEL AA AA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 75246761 75246762 AA - DEL EREG ENST00000244869 human ensembl 74_37 +1 known frame_shift_del c.185_186 p.Q62fs 1.000:0.993 NULL pfscan_EG-like_dom - no_errors EREG HGNC ENSG00000124882 179 0 0 169 68 28.692 GK2 0 genome.wustl.edu 37 4 80327749 80327750 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 80327749 80327750 - A INS GK2 ENST00000358842 human ensembl 74_37 -1 known frame_shift_ins c.1606_1605 p.I535fs 1.000:1.000 NULL pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK2 HGNC ENSG00000196475 124 1 0.8 133 40 23.1214 ANTXR2 0 genome.wustl.edu 37 4 80905990 80905990 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 80905990 80905990 C - DEL ANTXR2 ENST00000307333 human ensembl 74_37 -1 known frame_shift_del c.1069 p.A357fs 0.559 pirsf_Anthrax_toxin_rcpt pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR2 HGNC ENSG00000163297 28 0 0 28 10 26.3158 BMP3 0 genome.wustl.edu 37 4 81967644 81967644 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 81967644 81967644 A - DEL BMP3 ENST00000282701 human ensembl 74_37 +1 known frame_shift_del c.1069 p.K358fs 1.000 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors BMP3 HGNC ENSG00000152785 145 0 0 103 48 31.7881 SEC31A 0 genome.wustl.edu 37 4 83785565 83785565 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 83785565 83785565 T - DEL SEC31A ENST00000432794 human ensembl 74_37 -1 known frame_shift_del c.1384 p.I462fs 0.985 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 87 0 0 87 43 33.0769 GAK 0 genome.wustl.edu 37 4 845556 845556 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 845556 845556 C - DEL GAK ENST00000314167 human ensembl 74_37 -1 known frame_shift_del c.3490 p.V1164fs 0.111 superfamily_DnaJ_domain pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 158 0 0 132 34 20.4819 PKD2 0 genome.wustl.edu 37 4 88979251 88979251 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 88979251 88979251 T - DEL PKD2 ENST00000237596 human ensembl 74_37 +1 known frame_shift_del c.2015 p.L673fs 1.000 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 54 0 0 57 23 28.75 GPRIN3 0 genome.wustl.edu 37 4 90170454 90170454 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 90170454 90170454 G - DEL GPRIN3 ENST00000333209 human ensembl 74_37 -1 known frame_shift_del c.808 p.L270fs 0.000 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 180 0 0 162 59 26.6968 SLC26A1 0 genome.wustl.edu 37 4 982996 982997 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 4 982996 982997 - C INS SLC26A1 ENST00000361661 human ensembl 74_37 -1 known frame_shift_ins c.1731_1730 p.S578fs 0.001:0.001 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A1 HGNC ENSG00000145217 53 0 0 73 13 15.1163 SLC12A7 0 genome.wustl.edu 37 5 1074698 1074698 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 1074698 1074698 G - DEL SLC12A7 ENST00000264930 human ensembl 74_37 -1 known frame_shift_del c.2056 p.H686fs 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 91 0 0 93 36 27.907 SRFBP1 0 genome.wustl.edu 37 5 121356130 121356130 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 121356130 121356130 A - DEL SRFBP1 ENST00000339397 human ensembl 74_37 +1 known frame_shift_del c.700 p.N236fs 0.000 NULL pfam_Bud-site_select_BUD22 - no_errors SRFBP1 HGNC ENSG00000151304 192 0 0 203 109 34.9359 SNCAIP 0 genome.wustl.edu 37 5 121776153 121776156 + Splice_Site DEL TCAG TCAG - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 TCAG TCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 121776153 121776156 TCAG - DEL SNCAIP ENST00000542191 human ensembl 74_37 +1 known splice_site_del c.1-4_1 e1-1 0.000:0.000:0.001:0.001 - - - no_errors SNCAIP HGNC ENSG00000064692 14 0 0 15 8 34.7826 FBN2 0 genome.wustl.edu 37 5 127744418 127744418 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 127744418 127744418 A - DEL FBN2 ENST00000262464 human ensembl 74_37 -1 known frame_shift_del c.1027 p.C343fs 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 116 0 0 138 46 25 VDAC1 0 genome.wustl.edu 37 5 133316708 133316708 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 133316708 133316708 T - DEL VDAC1 ENST00000492324 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors VDAC1 HGNC ENSG00000213585 19 0 0 38 9 19.1489 DNAH5 0 genome.wustl.edu 37 5 13845086 13845087 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 13845086 13845087 - T INS DNAH5 ENST00000265104 human ensembl 74_37 -1 known frame_shift_ins c.5131_5130 p.R1710fs 1.000:1.000 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 DNAH5 HGNC ENSG00000039139 94 0 0 91 25 21.5517 PCDHB2 0 genome.wustl.edu 37 5 140474590 140474590 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 140474590 140474590 A - DEL PCDHB2 ENST00000194155 human ensembl 74_37 +1 known frame_shift_del c.216 p.M75fs 0.087 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 110 0 0 108 41 27.5168 DIAPH1 0 genome.wustl.edu 37 5 140953309 140953309 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 140953309 140953309 G - DEL DIAPH1 ENST00000253811 human ensembl 74_37 -1 known frame_shift_del c.2108 p.P703fs 0.995 pfam_Formin_homology_1 pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 10 0 0 18 7 28 NDFIP1 0 genome.wustl.edu 37 5 141511526 141511528 + RNA DEL AAA AAA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 141511526 141511528 AAA - DEL NDFIP1 ENST00000509436 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors NDFIP1 HGNC ENSG00000131507 52 0 0 50 22 30.5556 TRIO 0 genome.wustl.edu 37 5 14477004 14477004 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 14477004 14477004 T - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.6085 p.L2031fs 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 40 0 0 32 20 38.4615 TRIO 0 genome.wustl.edu 37 5 14487781 14487781 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 14487781 14487781 C - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.7044 p.V2351fs 1.000 superfamily_Capsid/spike_ssDNA_virus pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 21 0 0 22 9 29.0323 RBM27 0 genome.wustl.edu 37 5 145647320 145647320 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 145647320 145647320 A - DEL RBM27 ENST00000265271 human ensembl 74_37 +1 known frame_shift_del c.2440 p.K816fs 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 129 0 0 108 46 29.8701 TCERG1 0 genome.wustl.edu 37 5 145883505 145883506 + Frame_Shift_Del DEL GA GA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 145883505 145883506 GA - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2666_2667 p.E892fs 1.000:0.891 superfamily_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 TCERG1 HGNC ENSG00000113649 138 0 0 109 55 33.5366 TCERG1 0 genome.wustl.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 145886723 145886723 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863 p.K957fs 1.000 pfam_FF_domain,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 TCERG1 HGNC ENSG00000113649 182 0 0 201 64 24.1509 SPINK5 0 genome.wustl.edu 37 5 147499875 147499875 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 147499875 147499875 A - DEL SPINK5 ENST00000359874 human ensembl 74_37 +1 known frame_shift_del c.2459 p.K823fs 0.998 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 16 0 0 17 13 43.3333 FAT2 0 genome.wustl.edu 37 5 150886793 150886794 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 150886793 150886794 - G INS FAT2 ENST00000261800 human ensembl 74_37 -1 known frame_shift_ins c.12439_12438 p.R4146fs 1.000:0.985 NULL 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 192 0 0 187 47 20.0855 GALNT10 0 genome.wustl.edu 37 5 153674402 153674403 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 153674402 153674403 - T INS GALNT10 ENST00000297107 human ensembl 74_37 +1 known frame_shift_ins c.186_187 p.G66fs 0.000:0.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT10 HGNC ENSG00000164574 121 0 0 94 49 34.2657 LARP1 0 genome.wustl.edu 37 5 154173390 154173390 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 154173390 154173390 C - DEL LARP1 ENST00000336314 human ensembl 74_37 +1 known frame_shift_del c.668 p.T226fs 0.999 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 435 2 0.457666 414 101 19.6117 EBF1 0 genome.wustl.edu 37 5 158526597 158526597 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 158526597 158526597 T - DEL EBF1 ENST00000518836 human ensembl 74_37 -1 known rna NULL NULL 0.941 - - - no_errors EBF1 HGNC ENSG00000164330 33 0 0 57 15 20.8333 MIR146A 0 genome.wustl.edu 37 5 159912473 159912474 + RNA DEL GA GA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 159912473 159912474 GA - DEL MIR146A ENST00000517927 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MIR146A HGNC ENSG00000253522 12 0 0 19 5 20.8333 HMMR 0 genome.wustl.edu 37 5 162917426 162917426 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 162917426 162917426 A - DEL HMMR ENST00000393915 human ensembl 74_37 +1 known frame_shift_del c.1993 p.K667fs 1.000 NULL NULL - no_errors HMMR HGNC ENSG00000072571 65 0 0 71 42 37.1681 NSD1 0 genome.wustl.edu 37 5 176673750 176673750 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 176673750 176673750 A - DEL NSD1 ENST00000439151 human ensembl 74_37 +1 known frame_shift_del c.4450 p.V1486fs 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,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 NSD1 HGNC ENSG00000165671 89 0 0 95 37 28.0303 DBN1 0 genome.wustl.edu 37 5 176885163 176885163 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 176885163 176885163 G - DEL DBN1 ENST00000292385 human ensembl 74_37 -1 known frame_shift_del c.1678 p.Q560fs 0.960 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors DBN1 HGNC ENSG00000113758 98 0 0 112 38 25.3333 CNOT6 0 genome.wustl.edu 37 5 179994114 179994114 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 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 163 0 0 181 74 29.0196 RAI14 0 genome.wustl.edu 37 5 34814751 34814751 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 34814751 34814751 T - DEL RAI14 ENST00000515799 human ensembl 74_37 +1 known frame_shift_del c.925 p.F310fs 0.990 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 122 0 0 86 36 29.5082 SPEF2 0 genome.wustl.edu 37 5 35705894 35705894 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 35705894 35705894 A - DEL SPEF2 ENST00000356031 human ensembl 74_37 +1 known frame_shift_del c.2649 p.K886fs 0.129 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 17 0 0 18 13 41.9355 NIPBL 0 genome.wustl.edu 37 5 36985083 36985083 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 36985083 36985083 A - DEL NIPBL ENST00000282516 human ensembl 74_37 +1 known frame_shift_del c.1801 p.K603fs 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 92 0 0 96 49 33.7931 C5orf42 0 genome.wustl.edu 37 5 37162611 37162611 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 37162611 37162611 T - DEL C5orf42 ENST00000425232 human ensembl 74_37 -1 known frame_shift_del c.7646 p.K2549fs 1.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 198 0 0 201 72 26.3736 RICTOR 0 genome.wustl.edu 37 5 38954825 38954826 + RNA INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 38954825 38954826 - T INS RICTOR ENST00000503698 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RICTOR HGNC ENSG00000164327 41 0 0 19 15 44.1176 GPX8 0 genome.wustl.edu 37 5 54460112 54460113 + RNA INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 54460112 54460113 - T INS GPX8 ENST00000506123 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors GPX8 HGNC ENSG00000164294 28 0 0 31 6 16.2162 ERCC8 0 genome.wustl.edu 37 5 60187968 60187968 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 60187968 60187968 T - DEL ERCC8 ENST00000462279 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ERCC8 HGNC ENSG00000049167 21 0 0 21 6 22.2222 CENPH 0 genome.wustl.edu 37 5 68491597 68491598 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 68491597 68491598 - A INS CENPH ENST00000283006 human ensembl 74_37 +1 known frame_shift_ins c.293_294 p.L101fs 0.949:0.926 NULL pfam_CENP-H - no_errors CENPH HGNC ENSG00000153044 41 0 0 41 11 21.1538 TBCA 0 genome.wustl.edu 37 5 76989061 76989061 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 76989061 76989061 T - DEL TBCA ENST00000306388 human ensembl 74_37 -1 putative frame_shift_del c.276 p.K92fs 0.000 NULL pfam_CofA_tubulin-bd,superfamily_CofA_tubulin-bd - no_errors TBCA HGNC ENSG00000171530 14 0 0 13 8 38.0952 ANKRD32 0 genome.wustl.edu 37 5 94030769 94030769 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 94030769 94030769 A - DEL ANKRD32 ENST00000265140 human ensembl 74_37 +1 known frame_shift_del c.2929 p.I977fs 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD32 HGNC ENSG00000133302 66 0 0 65 29 30.8511 RHOBTB3 0 genome.wustl.edu 37 5 95067839 95067839 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 5 95067839 95067839 T - DEL RHOBTB3 ENST00000506817 human ensembl 74_37 +1 putative frame_shift_del c.279 p.S96fs 0.013 NULL NULL - no_errors RHOBTB3 HGNC ENSG00000164292 21 0 0 23 8 25.8065 ASCC3 0 genome.wustl.edu 37 6 101091910 101091910 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 101091910 101091910 T - DEL ASCC3 ENST00000369162 human ensembl 74_37 -1 known frame_shift_del c.3729 p.K1243fs 0.999 pfam_Sec63-dom,superfamily_P-loop_NTPase,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 68 0 0 79 9 10.2273 ASCC3 0 genome.wustl.edu 37 6 101296336 101296336 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 101296336 101296336 A - DEL ASCC3 ENST00000369162 human ensembl 74_37 -1 known frame_shift_del c.489 p.F163fs 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 97 0 0 99 39 28.2609 TMEM14C 0 genome.wustl.edu 37 6 10731012 10731013 + RNA DEL AA AA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 10731012 10731013 AA - DEL TMEM14C ENST00000467415 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.009 - - - no_errors TMEM14C HGNC ENSG00000111843 13 0 0 16 3 15.7895 BEND3 0 genome.wustl.edu 37 6 107391602 107391602 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 107391602 107391602 C - DEL BEND3 ENST00000369042 human ensembl 74_37 -1 known frame_shift_del c.793 p.D265fs 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 35 0 0 45 9 16.6667 TMEM14B 0 genome.wustl.edu 37 6 10756864 10756864 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 10756864 10756864 A - DEL TMEM14B ENST00000486421 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors TMEM14B HGNC ENSG00000137210 18 0 0 13 7 35 ADTRP 0 genome.wustl.edu 37 6 11714640 11714642 + RNA DEL AAA AAA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 11714640 11714642 AAA - DEL ADTRP ENST00000512139 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.001 - - - no_errors ADTRP HGNC ENSG00000111863 45 0 0 27 27 50 AKAP7 0 genome.wustl.edu 37 6 131481276 131481276 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 131481276 131481276 A - DEL AKAP7 ENST00000368123 human ensembl 74_37 +1 known frame_shift_del c.163 p.K57fs 0.449 pfam_Kinase-A_anchor_nucl_local_sig pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 52 0 0 52 29 35.8025 MYB 0 genome.wustl.edu 37 6 135520107 135520107 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 135520107 135520107 C - DEL MYB ENST00000341911 human ensembl 74_37 +1 known frame_shift_del c.1628 p.L545fs 0.992 pfam_C-myb_C pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 101 0 0 82 35 29.9145 AHI1 0 genome.wustl.edu 37 6 135784284 135784284 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 135784284 135784284 T - DEL AHI1 ENST00000265602 human ensembl 74_37 -1 known frame_shift_del c.910 p.T304fs 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 59 0 0 74 32 30.1887 CITED2 0 genome.wustl.edu 37 6 139694831 139694831 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 139694831 139694831 G - DEL CITED2 ENST00000367651 human ensembl 74_37 -1 known frame_shift_del c.251 p.P84fs 0.771 pfam_CITED pfam_CITED - no_errors CITED2 HGNC ENSG00000164442 28 0 0 43 12 21.8182 SASH1 0 genome.wustl.edu 37 6 148865376 148865376 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 148865376 148865376 C - DEL SASH1 ENST00000367467 human ensembl 74_37 +1 known frame_shift_del c.2770 p.P925fs 0.001 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 119 0 0 151 45 22.9592 JARID2 0 genome.wustl.edu 37 6 15508639 15508639 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 15508639 15508639 C - DEL JARID2 ENST00000341776 human ensembl 74_37 +1 known frame_shift_del c.2800 p.H934fs 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 105 0 0 85 30 26.087 WTAP 0 genome.wustl.edu 37 6 160163106 160163106 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 160163106 160163106 T - DEL WTAP ENST00000462110 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors WTAP HGNC ENSG00000146457 85 0 0 58 47 44.7619 SLC22A1 0 genome.wustl.edu 37 6 160557287 160557287 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 160557287 160557287 A - DEL SLC22A1 ENST00000366963 human ensembl 74_37 +1 known frame_shift_del c.875 p.R294fs 0.698 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A1 HGNC ENSG00000175003 82 0 0 68 23 25.2747 RBM24 0 genome.wustl.edu 37 6 17292449 17292450 + RNA DEL AA AA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 17292449 17292450 AA - DEL RBM24 ENST00000508508 human ensembl 74_37 +1 known rna NULL NULL 0.915:0.719 - - - no_errors RBM24 HGNC ENSG00000112183 52 0 0 57 9 13.6364 GPX5 0 genome.wustl.edu 37 6 28502011 28502011 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 28502011 28502011 A - DEL GPX5 ENST00000442674 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GPX5 HGNC ENSG00000224586 12 0 0 18 10 35.7143 RPP21 0 genome.wustl.edu 37 6 30313261 30313261 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 30313261 30313261 C - DEL RPP21 ENST00000433076 human ensembl 74_37 +1 known frame_shift_del c.176 p.R61fs 0.056 pfam_Rpr2 pfam_Rpr2 - no_errors RPP21 HGNC ENSG00000241370 15 0 0 30 3 9.09091 HLA-B 0 genome.wustl.edu 37 6 31323363 31323363 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 31323363 31323363 G - DEL HLA-B ENST00000412585 human ensembl 74_37 -1 known frame_shift_del c.626 p.P209fs 0.142 pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 300 0 0 262 69 20.8459 LSM2 0 genome.wustl.edu 37 6 31765402 31765402 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 31765402 31765402 A - DEL LSM2 ENST00000470083 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LSM2 HGNC ENSG00000204392 37 0 0 34 21 38.1818 SLC44A4 0 genome.wustl.edu 37 6 31832357 31832359 + RNA DEL AAA AAA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 31832357 31832359 AAA - DEL SLC44A4 ENST00000487680 human ensembl 74_37 -1 putative rna NULL NULL 0.055:0.066:0.070 - - - no_errors SLC44A4 HGNC ENSG00000204385 105 0 0 77 31 28.7037 SKIV2L 0 genome.wustl.edu 37 6 31934881 31934881 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 31934881 31934881 G - DEL SKIV2L ENST00000375394 human ensembl 74_37 +1 known frame_shift_del c.2441 p.E816fs 1.000 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 176 1 0.564972 153 40 20.7254 ATF6B 0 genome.wustl.edu 37 6 32095989 32095989 + RNA DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 32095989 32095989 C - DEL ATF6B ENST00000468502 human ensembl 74_37 -1 known rna NULL NULL 0.565 - - - no_errors ATF6B HGNC ENSG00000213676 43 0 0 39 4 9.30233 TAP2 0 genome.wustl.edu 37 6 32805788 32805788 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 32805788 32805788 G - DEL TAP2 ENST00000374897 human ensembl 74_37 -1 known frame_shift_del c.223 p.L75fs 0.060 prints_ABC_B3,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC ENSG00000204267 86 0 0 102 39 27.6596 STK38 0 genome.wustl.edu 37 6 36465582 36465583 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 36465582 36465583 - A INS STK38 ENST00000229812 human ensembl 74_37 -1 known frame_shift_ins c.1147_1146 p.E382fs 1.000:1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors STK38 HGNC ENSG00000112079 130 0 0 134 50 27.1739 C6orf89 0 genome.wustl.edu 37 6 36867371 36867371 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 36867371 36867371 C - DEL C6orf89 ENST00000355190 human ensembl 74_37 +1 known frame_shift_del c.172 p.P60fs 0.991 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 131 1 0.757576 161 33 17.0103 DNAH8 0 genome.wustl.edu 37 6 38885823 38885824 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 38885823 38885824 - A INS DNAH8 ENST00000359357 human ensembl 74_37 +1 known frame_shift_ins c.9780_9781 p.V3262fs 0.992:1.000 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 DNAH8 HGNC ENSG00000124721 125 0 0 138 49 26.2032 ENSG00000245261 0 genome.wustl.edu 37 6 43190737 43190739 + RNA DEL CTC CTC - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 43190737 43190739 CTC - DEL ENSG00000245261 ENST00000500590 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.003 - - - no_errors RP3-330M21.5 Clone_based_vega_gene ENSG00000245261 21 0 0 19 5 20.8333 TDRD6 0 genome.wustl.edu 37 6 46660415 46660415 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 46660415 46660415 A - DEL TDRD6 ENST00000316081 human ensembl 74_37 +1 known frame_shift_del c.4550 p.M1520fs 0.009 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 102 0 0 106 53 33.3333 PTCHD4 0 genome.wustl.edu 37 6 47846151 47846151 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 47846151 47846151 A - DEL PTCHD4 ENST00000339488 human ensembl 74_37 -1 known frame_shift_del c.2429 p.F810fs 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 127 0 0 136 51 27.2727 DST 0 genome.wustl.edu 37 6 56382365 56382365 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 56382365 56382365 T - DEL DST ENST00000370754 human ensembl 74_37 -1 known frame_shift_del c.18090 p.K6030fs 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 42 0 0 35 24 40.678 DST 0 genome.wustl.edu 37 6 56476324 56476324 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 56476324 56476324 A - DEL DST ENST00000370754 human ensembl 74_37 -1 known frame_shift_del c.5030 p.L1677fs 1.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 67 0 0 56 24 30 TTK 0 genome.wustl.edu 37 6 80751910 80751910 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 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 67 0 0 65 20 23.5294 IBTK 0 genome.wustl.edu 37 6 82891683 82891683 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 6 82891683 82891683 T - DEL IBTK ENST00000306270 human ensembl 74_37 -1 known frame_shift_del c.3638 p.K1213fs 0.998 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 56 0 0 88 19 17.757 AP1S1 0 genome.wustl.edu 37 7 100802405 100802406 + Frame_Shift_Del DEL GG GG - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 100802405 100802406 GG - DEL AP1S1 ENST00000337619 human ensembl 74_37 +1 known frame_shift_del c.357_358 p.D122fs 1.000:1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP1S1 HGNC ENSG00000106367 60 0 0 65 26 28.5714 LAMB1 0 genome.wustl.edu 37 7 107638926 107638926 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 107638926 107638926 T - DEL LAMB1 ENST00000222399 human ensembl 74_37 -1 known frame_shift_del c.225 p.K75fs 0.994 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 157 0 0 184 51 21.7021 PHF14 0 genome.wustl.edu 37 7 11022426 11022426 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 11022426 11022426 A - DEL PHF14 ENST00000403050 human ensembl 74_37 +1 known frame_shift_del c.540 p.K182fs 0.990 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC ENSG00000106443 61 0 0 60 22 26.8293 WNT16 0 genome.wustl.edu 37 7 120971879 120971879 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 120971879 120971879 G - DEL WNT16 ENST00000222462 human ensembl 74_37 +1 known frame_shift_del c.494 p.G167fs 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt - no_errors WNT16 HGNC ENSG00000002745 77 0 0 82 31 27.4336 NUP205 0 genome.wustl.edu 37 7 135287555 135287555 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 135287555 135287555 A - DEL NUP205 ENST00000285968 human ensembl 74_37 +1 known frame_shift_del c.2515 p.K840fs 1.000 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 111 0 0 118 58 32.9545 JHDM1D 0 genome.wustl.edu 37 7 139833448 139833448 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 139833448 139833448 T - DEL JHDM1D ENST00000397560 human ensembl 74_37 -1 known frame_shift_del c.289 p.R97fs 1.000 superfamily_Znf_FYVE_PHD pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors JHDM1D HGNC ENSG00000006459 96 0 0 113 35 23.6486 NOBOX 0 genome.wustl.edu 37 7 144096174 144096175 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 144096174 144096175 - G INS NOBOX ENST00000467773 human ensembl 74_37 -1 known frame_shift_ins c.1338_1337 p.P447fs 1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NOBOX HGNC ENSG00000106410 44 0 0 37 11 22.9167 ZNF862 0 genome.wustl.edu 37 7 149545311 149545311 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 149545311 149545311 C - DEL ZNF862 ENST00000223210 human ensembl 74_37 +1 known frame_shift_del c.729 p.P245fs 0.570 NULL pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 29 0 0 30 10 25 NOS3 0 genome.wustl.edu 37 7 150698397 150698398 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 150698397 150698398 - G INS NOS3 ENST00000297494 human ensembl 74_37 +1 known frame_shift_ins c.1312_1313 p.C441fs 0.998:1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 114 0 0 124 24 16.2162 ITGB8 0 genome.wustl.edu 37 7 20449395 20449395 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 20449395 20449395 A - DEL ITGB8 ENST00000222573 human ensembl 74_37 +1 known frame_shift_del c.2181 p.K729fs 0.698 pirsf_Integrin_bsu 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 93 0 0 114 45 28.3019 HOXA2 0 genome.wustl.edu 37 7 27140390 27140390 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 27140390 27140390 A - DEL HOXA2 ENST00000222718 human ensembl 74_37 -1 known frame_shift_del c.1086 p.F362fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA2 HGNC ENSG00000105996 307 0 0 231 108 31.8584 CPVL 0 genome.wustl.edu 37 7 29111459 29111459 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 29111459 29111459 T - DEL CPVL ENST00000265394 human ensembl 74_37 -1 known frame_shift_del c.794 p.K265fs 0.977 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CPVL HGNC ENSG00000106066 144 0 0 149 56 27.3171 POLM 0 genome.wustl.edu 37 7 44120413 44120414 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 44120413 44120414 - G INS POLM ENST00000242248 human ensembl 74_37 -1 known frame_shift_ins c.291_290 p.A98fs 0.000:0.047 superfamily_BRCT_dom,pirsf_TdT/Mu,pfscan_BRCT_dom pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors POLM HGNC ENSG00000122678 137 1 0.724638 144 38 20.8791 OGDH 0 genome.wustl.edu 37 7 44747227 44747228 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 44747227 44747228 - C INS OGDH ENST00000222673 human ensembl 74_37 +1 known frame_shift_ins c.2843_2844 p.N950fs 1.000:1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 198 0 0 199 86 30.1754 PRKAR1B 0 genome.wustl.edu 37 7 720281 720281 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 720281 720281 G - DEL PRKAR1B ENST00000360274 human ensembl 74_37 -1 known frame_shift_del c.260 p.P87fs 0.998 pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1B HGNC ENSG00000188191 109 0 0 115 31 21.2329 POM121 0 genome.wustl.edu 37 7 72397426 72397427 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 72397426 72397427 - C INS POM121 ENST00000434423 human ensembl 74_37 +1 known frame_shift_ins c.947_948 p.K317fs 1.000:1.000 NULL NULL - no_errors POM121 HGNC ENSG00000196313 479 0 0 454 213 31.934 RHBDD2 0 genome.wustl.edu 37 7 75512837 75512837 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 75512837 75512837 A - DEL RHBDD2 ENST00000467406 human ensembl 74_37 +1 putative rna NULL NULL 0.010 - - - no_errors RHBDD2 HGNC ENSG00000005486 14 0 0 7 5 41.6667 PCLO 0 genome.wustl.edu 37 7 82582694 82582694 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 82582694 82582694 T - DEL PCLO ENST00000333891 human ensembl 74_37 -1 known frame_shift_del c.7575 p.K2525fs 0.995 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 126 0 0 100 48 32.4324 PCLO 0 genome.wustl.edu 37 7 82585204 82585204 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 82585204 82585204 T - DEL PCLO ENST00000333891 human ensembl 74_37 -1 known frame_shift_del c.5065 p.T1689fs 0.577 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 64 0 0 64 36 36 AP4M1 0 genome.wustl.edu 37 7 99701731 99701731 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 7 99701731 99701731 T - DEL AP4M1 ENST00000359593 human ensembl 74_37 +1 known frame_shift_del c.560 p.L189fs 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C - no_errors AP4M1 HGNC ENSG00000221838 95 0 0 83 39 31.9672 VPS13B 0 genome.wustl.edu 37 8 100654474 100654474 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 100654474 100654474 A - DEL VPS13B ENST00000358544 human ensembl 74_37 +1 known frame_shift_del c.5731 p.I1913fs 0.452 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 256 1 0.389105 318 97 23.3735 RGS22 0 genome.wustl.edu 37 8 101076179 101076181 + In_Frame_Del DEL CTT CTT - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 101076179 101076181 CTT - DEL RGS22 ENST00000360863 human ensembl 74_37 -1 known in_frame_del c.817_815 p.E272in_frame_del 0.232:0.227:0.291 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 299 0 0 421 102 19.5029 RIMS2 0 genome.wustl.edu 37 8 104898446 104898446 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 104898446 104898446 A - DEL RIMS2 ENST00000406091 human ensembl 74_37 +1 known frame_shift_del c.1619 p.G542fs 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 57 0 0 102 35 25.5474 MTMR9 0 genome.wustl.edu 37 8 11162509 11162509 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 11162509 11162509 A - DEL MTMR9 ENST00000221086 human ensembl 74_37 +1 known frame_shift_del c.577 p.N195fs 0.997 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom - no_errors MTMR9 HGNC ENSG00000104643 82 0 0 132 35 20.9581 TBC1D31 0 genome.wustl.edu 37 8 124140521 124140521 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 124140521 124140521 T - DEL TBC1D31 ENST00000287380 human ensembl 74_37 +1 known frame_shift_del c.1885 p.H632fs 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors TBC1D31 HGNC ENSG00000156787 124 0 0 169 58 25.5507 FER1L6 0 genome.wustl.edu 37 8 125080030 125080031 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 125080030 125080031 - A INS FER1L6 ENST00000399018 human ensembl 74_37 +1 known frame_shift_ins c.3701_3702 p.G1237fs 0.222:0.152 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 92 0 0 121 27 18.2432 MIR1208 0 genome.wustl.edu 37 8 129162433 129162433 + RNA DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 129162433 129162433 G - DEL MIR1208 ENST00000408334 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MIR1208 HGNC ENSG00000221261 87 0 0 126 28 18.1818 KCNQ3 0 genome.wustl.edu 37 8 133150233 133150233 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 133150233 133150233 T - DEL KCNQ3 ENST00000388996 human ensembl 74_37 -1 known frame_shift_del c.1599 p.K533fs 0.715 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 151 0 0 225 60 21.0526 RECQL4 0 genome.wustl.edu 37 8 145741231 145741231 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 145741231 145741231 C - DEL RECQL4 ENST00000428558 human ensembl 74_37 -1 known frame_shift_del c.1175 p.G392fs 0.288 NULL pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL4 HGNC ENSG00000160957 30 0 0 36 8 18.1818 MYOM2 0 genome.wustl.edu 37 8 1998982 1998982 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 1998982 1998982 A - DEL MYOM2 ENST00000262113 human ensembl 74_37 +1 known frame_shift_del c.102 p.K36fs 0.002 NULL 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 23 0 0 45 14 23.7288 KIF13B 0 genome.wustl.edu 37 8 28929788 28929788 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 28929788 28929788 C - DEL KIF13B ENST00000524189 human ensembl 74_37 -1 known frame_shift_del c.4567 p.A1523fs 0.006 NULL 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 11 0 0 14 7 33.3333 TEX15 0 genome.wustl.edu 37 8 30703516 30703516 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 30703516 30703516 T - DEL TEX15 ENST00000256246 human ensembl 74_37 -1 known frame_shift_del c.3018 p.A1007fs 1.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 330 0 0 491 143 22.5552 BAG4 0 genome.wustl.edu 37 8 38067995 38067995 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 38067995 38067995 A - DEL BAG4 ENST00000287322 human ensembl 74_37 +1 known frame_shift_del c.1358 p.G456fs 1.000 smart_BAG_domain,pfscan_BAG_domain pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG4 HGNC ENSG00000156735 82 0 0 120 29 19.4631 CHRNA6 0 genome.wustl.edu 37 8 42611529 42611529 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 42611529 42611529 T - DEL CHRNA6 ENST00000276410 human ensembl 74_37 -1 known frame_shift_del c.813 p.V272fs 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA6 HGNC ENSG00000147434 99 0 0 128 42 24.7059 ENSG00000199405 0 genome.wustl.edu 37 8 56815414 56815414 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 56815414 56815414 T - DEL ENSG00000199405 ENST00000362535 human ensembl 74_37 -1 novel rna NULL NULL 0.582 - - - no_errors SNORA1 RFAM ENSG00000199405 20 0 0 12 10 45.4545 CHCHD7 0 genome.wustl.edu 37 8 57129070 57129070 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 57129070 57129070 A - DEL CHCHD7 ENST00000303759 human ensembl 74_37 +1 known frame_shift_del c.208 p.N71fs 1.000 superfamily_Cys_alpha_HP_mot_SF,pfscan_Ricin_B_lectin superfamily_Cys_alpha_HP_mot_SF,pfscan_Ricin_B_lectin - no_errors CHCHD7 HGNC ENSG00000170791 146 0 0 195 47 19.4215 NSMAF 0 genome.wustl.edu 37 8 59548059 59548060 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 59548059 59548060 - A INS NSMAF ENST00000427130 human ensembl 74_37 -1 known frame_shift_ins c.289_288 p.E96fs 1.000:1.000 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 174 0 0 297 76 20.3753 CHD7 0 genome.wustl.edu 37 8 61778454 61778454 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 61778454 61778454 G - DEL CHD7 ENST00000423902 human ensembl 74_37 +1 known frame_shift_del c.8956 p.D2988fs 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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 CHD7 HGNC ENSG00000171316 23 0 0 27 9 25 SGK3 0 genome.wustl.edu 37 8 67753177 67753179 + RNA DEL AAA AAA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 67753177 67753179 AAA - DEL SGK3 ENST00000523260 human ensembl 74_37 +1 putative rna NULL NULL 0.034:0.037:0.044 - - - no_errors SGK3 HGNC ENSG00000104205 19 0 0 22 12 35.2941 PREX2 0 genome.wustl.edu 37 8 68992720 68992721 + Frame_Shift_Ins INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 68992720 68992721 - T INS PREX2 ENST00000288368 human ensembl 74_37 +1 known frame_shift_ins c.1685_1686 p.S565fs 1.000:0.015 smart_DEP_dom,pfscan_DEP_dom 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 82 0 0 145 36 19.8895 KCNB2 0 genome.wustl.edu 37 8 73480396 73480397 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 73480396 73480397 - A INS KCNB2 ENST00000523207 human ensembl 74_37 +1 known frame_shift_ins c.427_428 p.E146fs 1.000:1.000 prints_K_chnl_volt-dep_Kv2 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_Kv2.2,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 KCNB2 HGNC ENSG00000182674 196 0 0 232 72 23.6842 ZFHX4 0 genome.wustl.edu 37 8 77617546 77617547 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 77617546 77617547 - G INS ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_ins c.1223_1224 p.L411fs 1.000:1.000 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 31 0 0 60 10 14.2857 ZFHX4 0 genome.wustl.edu 37 8 77775799 77775799 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 77775799 77775799 G - DEL ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_del c.9849 p.G3285fs 0.999 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 143 0 0 244 52 17.5676 ENSG00000253722 0 genome.wustl.edu 37 8 94745548 94745548 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 94745548 94745548 A - DEL ENSG00000253722 ENST00000517998 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-10N23.4 Clone_based_vega_gene ENSG00000253722 12 0 0 15 11 42.3077 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 80 0 0 88 73 45.3416 SNORA72 0 genome.wustl.edu 37 8 99054504 99054504 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 99054504 99054504 T - DEL SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 11 0 0 19 11 36.6667 NIPAL2 0 genome.wustl.edu 37 8 99205152 99205153 + RNA INS - - T TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 8 99205152 99205153 - T INS NIPAL2 ENST00000520545 human ensembl 74_37 -1 known rna NULL NULL 0.072:0.070 - - - no_errors NIPAL2 HGNC ENSG00000104361 42 0 0 65 17 20.7317 COL15A1 0 genome.wustl.edu 37 9 101806909 101806909 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 101806909 101806909 G - DEL COL15A1 ENST00000375001 human ensembl 74_37 +1 known frame_shift_del c.2634 p.K881fs 0.011 pfam_Collagen,superfamily_C-type_lectin_fold pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 64 0 0 55 18 24.6575 INIP 0 genome.wustl.edu 37 9 115449705 115449705 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 115449705 115449705 A - DEL INIP ENST00000481146 human ensembl 74_37 -1 known rna NULL NULL 0.342 - - - no_errors INIP HGNC ENSG00000148153 29 0 0 36 7 16.2791 DAB2IP 0 genome.wustl.edu 37 9 124536637 124536637 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 124536637 124536637 C - DEL DAB2IP ENST00000408936 human ensembl 74_37 +1 known frame_shift_del c.3066 p.H1025fs 0.988 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 37 0 0 26 11 29.7297 RABGAP1 0 genome.wustl.edu 37 9 125861041 125861042 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 125861041 125861042 - A INS RABGAP1 ENST00000373647 human ensembl 74_37 +1 known frame_shift_ins c.2781_2782 p.N929fs 1.000:1.000 NULL 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 RABGAP1 HGNC ENSG00000011454 133 0 0 122 52 29.8851 SLC2A8 0 genome.wustl.edu 37 9 130160336 130160336 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 130160336 130160336 G - DEL SLC2A8 ENST00000373371 human ensembl 74_37 +1 known frame_shift_del c.372 p.G126fs 0.887 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,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 SLC2A8 HGNC ENSG00000136856 11 0 0 19 4 17.3913 CDK9 0 genome.wustl.edu 37 9 130550722 130550722 + RNA DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 130550722 130550722 C - DEL CDK9 ENST00000498339 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors CDK9 HGNC ENSG00000136807 12 0 0 29 5 14.7059 ST6GALNAC4 0 genome.wustl.edu 37 9 130672340 130672340 + RNA DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 130672340 130672340 G - DEL ST6GALNAC4 ENST00000495983 human ensembl 74_37 -1 known rna NULL NULL 0.977 - - - no_errors ST6GALNAC4 HGNC ENSG00000136840 36 0 0 49 4 7.54717 DNM1 0 genome.wustl.edu 37 9 130988357 130988357 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 130988357 130988357 A - DEL DNM1 ENST00000486160 human ensembl 74_37 +1 known frame_shift_del c.1240 p.K415fs 1.000 pfam_Dynamin_central pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM1 HGNC ENSG00000106976 54 0 0 64 20 23.8095 MPDZ 0 genome.wustl.edu 37 9 13125277 13125277 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 13125277 13125277 T - DEL MPDZ ENST00000319217 human ensembl 74_37 -1 known frame_shift_del c.4745 p.K1582fs 0.029 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 124 0 0 118 38 24.359 NUP214 0 genome.wustl.edu 37 9 134003995 134003995 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 134003995 134003995 A - DEL NUP214 ENST00000526412 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NUP214 HGNC ENSG00000126883 13 0 0 15 10 40 NUP214 0 genome.wustl.edu 37 9 134007992 134007993 + Frame_Shift_Ins INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 134007992 134007993 - A INS NUP214 ENST00000451030 human ensembl 74_37 +1 known frame_shift_ins c.673_674 p.V228fs 1.000:1.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 198 0 0 212 71 25.0883 TTF1 0 genome.wustl.edu 37 9 135277388 135277388 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 135277388 135277388 T - DEL TTF1 ENST00000334270 human ensembl 74_37 -1 known frame_shift_del c.821 p.K274fs 0.001 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 240 0 0 228 83 26.6881 CEL 0 genome.wustl.edu 37 9 135946579 135946579 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 135946579 135946579 G - DEL CEL ENST00000372080 human ensembl 74_37 +1 known frame_shift_del c.1699 p.D568fs 0.688 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 24 0 0 30 7 18.9189 COL5A1 0 genome.wustl.edu 37 9 137693828 137693829 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 137693828 137693829 - C INS COL5A1 ENST00000371817 human ensembl 74_37 +1 known frame_shift_ins c.2981_2982 p.G997fs 1.000:0.011 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 144 0 0 179 40 18.2648 PPP1R26 0 genome.wustl.edu 37 9 138378961 138378961 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 138378961 138378961 G - DEL PPP1R26 ENST00000356818 human ensembl 74_37 +1 known frame_shift_del c.2605 p.G870fs 0.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 156 0 0 139 55 28.3505 KCNT1 0 genome.wustl.edu 37 9 138594134 138594134 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 138594134 138594134 G - DEL KCNT1 ENST00000298480 human ensembl 74_37 +1 known frame_shift_del c.30 p.G12fs 0.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 47 0 0 51 7 12.069 GRIN1 0 genome.wustl.edu 37 9 140036496 140036496 + Frame_Shift_Del DEL C C - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 140036496 140036496 C - DEL GRIN1 ENST00000371561 human ensembl 74_37 +1 known frame_shift_del c.290 p.N99fs 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC ENSG00000176884 290 0 0 292 67 18.663 RNF208 0 genome.wustl.edu 37 9 140115502 140115502 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 140115502 140115502 G - DEL RNF208 ENST00000391553 human ensembl 74_37 -1 known frame_shift_del c.163 p.R55fs 1.000 NULL pfscan_Znf_RING - no_errors RNF208 HGNC ENSG00000212864 12 0 0 14 12 46.1538 NOXA1 0 genome.wustl.edu 37 9 140327669 140327670 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 140327669 140327670 - G INS NOXA1 ENST00000341349 human ensembl 74_37 +1 known frame_shift_ins c.863_864 p.P291fs 0.000:0.000 NULL pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_TPR_repeat,smart_OPR_PB1,smart_SH3_domain,pfscan_SH3_domain,pfscan_TPR-contain_dom - no_errors NOXA1 HGNC ENSG00000188747 19 0 0 14 5 26.3158 PTENP1 0 genome.wustl.edu 37 9 33675365 33675365 + RNA DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 33675365 33675365 A - DEL PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors PTENP1 HGNC ENSG00000237984 9 0 0 16 7 30.4348 DOCK8 0 genome.wustl.edu 37 9 405015 405015 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 405015 405015 T - DEL DOCK8 ENST00000453981 human ensembl 74_37 +1 known frame_shift_del c.3332 p.F1113fs 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 114 0 0 123 25 16.8919 CNTNAP3B 0 genome.wustl.edu 37 9 43815990 43815991 + Splice_Site INS - - A TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 43815990 43815991 - A INS CNTNAP3B ENST00000377564 human ensembl 74_37 +1 known splice_site_ins c.742+2_742+1 e5+2 1.000:0.975 - - - no_errors CNTNAP3B HGNC ENSG00000154529 180 0 0 201 12 5.6338 RLN2 0 genome.wustl.edu 37 9 5304561 5304561 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 5304561 5304561 A - DEL RLN2 ENST00000381627 human ensembl 74_37 -1 known frame_shift_del c.20 p.F7fs 0.078 prints_Relaxin pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family - no_errors RLN2 HGNC ENSG00000107014 130 0 0 136 39 22.2857 PLGRKT 0 genome.wustl.edu 37 9 5361173 5361173 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 5361173 5361173 T - DEL PLGRKT ENST00000223864 human ensembl 74_37 -1 known frame_shift_del c.227 p.K76fs 1.000 pfam_DUF2368 pfam_DUF2368 - no_errors PLGRKT HGNC ENSG00000107020 117 0 0 103 36 25.8993 FAM122A 0 genome.wustl.edu 37 9 71395787 71395788 + Frame_Shift_Del DEL GT GT - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 71395787 71395788 GT - DEL FAM122A ENST00000394264 human ensembl 74_37 +1 known frame_shift_del c.707_708 p.V239fs 0.152:0.077 NULL NULL - no_errors FAM122A HGNC ENSG00000187866 227 0 0 199 86 30.1754 VPS13A 0 genome.wustl.edu 37 9 79897181 79897181 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 79897181 79897181 A - DEL VPS13A ENST00000360280 human ensembl 74_37 +1 known frame_shift_del c.3109 p.K1038fs 0.998 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 56 0 0 58 22 27.5 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 14 0 0 19 7 26.9231 STAG2 0 genome.wustl.edu 37 X 123179073 123179073 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 123179073 123179073 T - DEL STAG2 ENST00000218089 human ensembl 74_37 +1 known frame_shift_del c.522 p.C176fs 1.000 pfam_STAG,superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 89 0 0 49 84 63.1579 MOSPD1 0 genome.wustl.edu 37 X 134033048 134033048 + RNA DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 134033048 134033048 T - DEL MOSPD1 ENST00000462060 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MOSPD1 HGNC ENSG00000101928 66 0 0 30 48 61.5385 MAP7D3 0 genome.wustl.edu 37 X 135314193 135314194 + Frame_Shift_Ins INS - - G TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 135314193 135314194 - G INS MAP7D3 ENST00000370663 human ensembl 74_37 -1 known frame_shift_ins c.869_868 p.Q290fs 0.000:0.000 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 226 0 0 147 127 46.3504 ARHGEF6 0 genome.wustl.edu 37 X 135764121 135764121 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 135764121 135764121 T - DEL ARHGEF6 ENST00000250617 human ensembl 74_37 -1 known frame_shift_del c.1486 p.I496fs 0.996 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ENSG00000129675 91 0 0 66 82 55.4054 F8 0 genome.wustl.edu 37 X 154091467 154091467 + Frame_Shift_Del DEL T T - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 154091467 154091467 T - DEL F8 ENST00000360256 human ensembl 74_37 -1 known frame_shift_del c.6465 p.K2155fs 0.939 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 88 0 0 43 66 60.5505 RAI2 0 genome.wustl.edu 37 X 17819461 17819461 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 17819461 17819461 G - DEL RAI2 ENST00000331511 human ensembl 74_37 -1 known frame_shift_del c.670 p.L224fs 0.033 NULL NULL - no_errors RAI2 HGNC ENSG00000131831 39 0 0 29 32 52.459 DMD 0 genome.wustl.edu 37 X 31222117 31222118 + Frame_Shift_Ins INS - - C TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 31222117 31222118 - C INS DMD ENST00000357033 human ensembl 74_37 -1 known frame_shift_ins c.9768_9767 p.S3257fs 1.000:1.000 pfam_EF-hand_dom_typ2,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 64 0 0 43 46 51.6854 WDR13 0 genome.wustl.edu 37 X 48457035 48457036 + RNA DEL CC CC - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 48457035 48457036 CC - DEL WDR13 ENST00000479279 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors WDR13 HGNC ENSG00000101940 8 0 0 3 7 70 HMGN5 0 genome.wustl.edu 37 X 80377176 80377177 + RNA DEL AA AA - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 80377176 80377177 AA - DEL HMGN5 ENST00000491275 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors HMGN5 HGNC ENSG00000198157 13 0 0 5 9 64.2857 PCDH19 0 genome.wustl.edu 37 X 99662505 99662505 + Frame_Shift_Del DEL G G - TCGA-CG-4442-01A-01D-1158-08 TCGA-CG-4442-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c1bbf67-5d74-4404-a6bf-ba7f23de3c29 037b82de-70da-4122-a9b6-0180852a5545 X 99662505 99662505 G - DEL PCDH19 ENST00000373034 human ensembl 74_37 -1 known frame_shift_del c.1091 p.P364fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 68 0 0 30 30 50