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 VANGL2 0 genome.wustl.edu 37 1 160389028 160389028 + Silent SNP G G A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 1 160389028 160389028 G A SNP VANGL2 ENST00000368061 human ensembl 74_37 +1 known silent c.429 p.T143 0.987 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 80 0 0 30 29 49.1525 HIST3H2A 0 genome.wustl.edu 37 1 228645463 228645463 + Missense_Mutation SNP G G A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 1 228645463 228645463 G A SNP HIST3H2A ENST00000366695 human ensembl 74_37 -1 known missense c.56 p.S19L 0.999 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST3H2A HGNC ENSG00000181218 43 0 0 22 14 38.8889 KDM4A 0 genome.wustl.edu 37 1 44159762 44159762 + Missense_Mutation SNP C C T TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 1 44159762 44159762 C T SNP KDM4A ENST00000372396 human ensembl 74_37 +1 known missense c.2473 p.R825C 0.996 superfamily_Znf_FYVE_PHD 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 51 0 0 1 21 95.4545 CDC123 0 genome.wustl.edu 37 10 12291586 12291586 + Missense_Mutation SNP C C T TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 10 12291586 12291586 C T SNP CDC123 ENST00000281141 human ensembl 74_37 +1 known missense c.853 p.P285S 1.000 pfam_D123,pirsf_Cell_div_Cdc123 pfam_D123,pirsf_Cell_div_Cdc123 - no_errors CDC123 HGNC ENSG00000151465 150 0 0 83 7 7.77778 BMS1 0 genome.wustl.edu 37 10 43294033 43294033 + Missense_Mutation SNP G G A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 10 43294033 43294033 G A SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known missense c.2207 p.R736K 0.683 superfamily_P-loop_NTPase pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 170 0 0 64 56 46.6667 IFIT3 0 genome.wustl.edu 37 10 91099105 91099105 + Missense_Mutation SNP A A C TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 10 91099105 91099105 A C SNP IFIT3 ENST00000371811 human ensembl 74_37 +1 known missense c.693 p.E231D 0.338 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT3 HGNC ENSG00000119917 126 0 0 13 35 72.9167 ZNF195 0 genome.wustl.edu 37 11 3381028 3381028 + Nonsense_Mutation SNP C C A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 11 3381028 3381028 C A SNP ZNF195 ENST00000399602 human ensembl 74_37 -1 known nonsense c.1210 p.E404* 0.983 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 ZNF195 HGNC ENSG00000005801 416 0 0 26 102 79.6875 C11orf49 0 genome.wustl.edu 37 11 47183053 47183053 + Missense_Mutation SNP C C G TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 11 47183053 47183053 C G SNP C11orf49 ENST00000378615 human ensembl 74_37 +1 known missense c.878 p.A293G 0.993 NULL NULL - no_errors C11orf49 HGNC ENSG00000149179 96 0 0 42 25 37.3134 C11orf49 0 genome.wustl.edu 37 11 47183076 47183076 + Missense_Mutation SNP C C T TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 11 47183076 47183076 C T SNP C11orf49 ENST00000378615 human ensembl 74_37 +1 known missense c.901 p.P301S 1.000 NULL NULL - no_errors C11orf49 HGNC ENSG00000149179 105 0 0 45 23 33.8235 OR4A5 0 genome.wustl.edu 37 11 51412276 51412276 + Silent SNP G G A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 11 51412276 51412276 G A SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known silent c.120 p.N40 0.952 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 OR4A5 HGNC ENSG00000221840 69 0 0 35 28 44.4444 OR5M3 0 genome.wustl.edu 37 11 56237947 56237947 + Missense_Mutation SNP C C A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 11 56237947 56237947 C A SNP OR5M3 ENST00000312240 human ensembl 74_37 -1 known missense c.27 p.E9D 0.746 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 98 0 0 70 7 9.09091 KIF5A 0 genome.wustl.edu 37 12 57970599 57970599 + Missense_Mutation SNP C C A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 12 57970599 57970599 C A SNP KIF5A ENST00000455537 human ensembl 74_37 +1 known missense c.2254 p.L752M 1.000 superfamily_Prefoldin pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 83 0 0 25 15 37.5 SLC25A47 0 genome.wustl.edu 37 14 100793646 100793646 + Missense_Mutation SNP C C T TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 14 100793646 100793646 C T SNP SLC25A47 ENST00000361529 human ensembl 74_37 +1 known missense c.266 p.P89L 0.020 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A47 HGNC ENSG00000140107 92 0 0 47 37 44.0476 CPSF2 0 genome.wustl.edu 37 14 92625468 92625468 + Missense_Mutation SNP G G A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 14 92625468 92625468 G A SNP CPSF2 ENST00000298875 human ensembl 74_37 +1 known missense c.1963 p.D655N 1.000 NULL pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors CPSF2 HGNC ENSG00000165934 133 0 0 71 42 37.1681 NPAP1 0 genome.wustl.edu 37 15 24922006 24922006 + Missense_Mutation SNP C C T TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 15 24922006 24922006 C T SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.992 p.S331L 0.001 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 54 0 0 5 36 87.8049 THBS1 0 genome.wustl.edu 37 15 39885837 39885837 + Missense_Mutation SNP G G A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 15 39885837 39885837 G A SNP THBS1 ENST00000260356 human ensembl 74_37 +1 known missense c.3235 p.A1079T 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 277 0 0 155 33 17.5532 HMG20A 0 genome.wustl.edu 37 15 77769900 77769900 + Missense_Mutation SNP G G A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 15 77769900 77769900 G A SNP HMG20A ENST00000336216 human ensembl 74_37 +1 known missense c.619 p.E207K 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMG20A HGNC ENSG00000140382 76 0 0 23 9 28.125 LOC645752 0 genome.wustl.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 15 78212618 78212618 A G SNP LOC645752 ENST00000567226 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 56 0 0 78 5 6.0241 MTSS1L 0 genome.wustl.edu 37 16 70697913 70697913 + Silent SNP C C T TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 16 70697913 70697913 C T SNP MTSS1L ENST00000338779 human ensembl 74_37 -1 known silent c.1911 p.R637 0.999 NULL pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC ENSG00000132613 11 0 0 6 4 40 PMP22 0 genome.wustl.edu 37 17 15134175 15134175 + Missense_Mutation SNP T T G TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 17 15134175 15134175 T G SNP PMP22 ENST00000494511 human ensembl 74_37 -1 novel missense c.363 p.K121N 0.812 NULL NULL - no_errors PMP22 HGNC ENSG00000109099 125 0 0 32 3 8.57143 TOP2A 0 genome.wustl.edu 37 17 38560458 38560458 + Missense_Mutation SNP C C A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 17 38560458 38560458 C A SNP TOP2A ENST00000423485 human ensembl 74_37 -1 known missense c.2229 p.K743N 1.000 pfam_Topo_IIA_A/C,superfamily_Topo_IIA_like_dom,smart_Topo_IIA_A/C,prints_TopoII_euk pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 421 1 0.236967 148 109 42.4125 TANC2 0 genome.wustl.edu 37 17 61498904 61498904 + Missense_Mutation SNP G G A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 17 61498904 61498904 G A SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.5561 p.R1854Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 146 0 0 73 44 37.6068 TMEM104 0 genome.wustl.edu 37 17 72785005 72785005 + Missense_Mutation SNP T T G TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 17 72785005 72785005 T G SNP TMEM104 ENST00000335464 human ensembl 74_37 +1 known missense c.245 p.L82R 1.000 NULL pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 39 0 0 15 20 57.1429 CASKIN2 0 genome.wustl.edu 37 17 73498181 73498181 + Missense_Mutation SNP G G A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 17 73498181 73498181 G A SNP CASKIN2 ENST00000321617 human ensembl 74_37 -1 known missense c.2974 p.R992W 0.996 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 50 0 0 33 14 29.7872 ZNF536 0 genome.wustl.edu 37 19 31039824 31039824 + Missense_Mutation SNP G G A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 19 31039824 31039824 G A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.3298 p.V1100M 0.953 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 117 0 0 59 49 45.3704 DHX34 0 genome.wustl.edu 37 19 47870310 47870310 + Missense_Mutation SNP A A G TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 19 47870310 47870310 A G SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known missense c.1666 p.T556A 1.000 superfamily_P-loop_NTPase,smart_Helicase-assoc_dom 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 59 0 0 34 4 10.5263 LONP1 0 genome.wustl.edu 37 19 5692159 5692159 + Missense_Mutation SNP C C T TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 19 5692159 5692159 C T SNP LONP1 ENST00000360614 human ensembl 74_37 -1 known missense c.2764 p.D922N 0.998 pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP1 HGNC ENSG00000196365 199 0 0 20 63 75.9036 GCC2 0 genome.wustl.edu 37 2 109087107 109087107 + Missense_Mutation SNP A A G TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 2 109087107 109087107 A G SNP GCC2 ENST00000309863 human ensembl 74_37 +1 known missense c.1322 p.N441S 0.982 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 102 0 0 43 38 46.9136 ANKRD36C 0 genome.wustl.edu 37 2 96521777 96521777 + Missense_Mutation SNP T T C TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 2 96521777 96521777 T C SNP ANKRD36C ENST00000456556 human ensembl 74_37 -1 known missense c.4232 p.H1411R 0.464 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 45 0 0 27 3 10 BMS1P20 0 genome.wustl.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 22 22664141 22664141 G A SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BMS1P20 HGNC ENSG00000236850 135 1 0.735294 66 4 5.71429 PCDHA10 0 genome.wustl.edu 37 5 140237387 140237387 + Missense_Mutation SNP T T G TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 5 140237387 140237387 T G SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.1754 p.V585G 0.037 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 23 0 0 4 2 33.3333 PCDHGC5 0 genome.wustl.edu 37 5 140869709 140869709 + Missense_Mutation SNP C C A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 5 140869709 140869709 C A SNP PCDHGC5 ENST00000252087 human ensembl 74_37 +1 known missense c.902 p.A301E 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 PCDHGC5 HGNC ENSG00000240764 231 0 0 102 11 9.73451 FAT2 0 genome.wustl.edu 37 5 150922741 150922741 + Silent SNP C C A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 5 150922741 150922741 C A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known silent c.7947 p.L2649 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 252 0 0 77 5 6.09756 MGAT1 0 genome.wustl.edu 37 5 180218745 180218745 + Silent SNP C C T TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 5 180218745 180218745 C T SNP MGAT1 ENST00000307826 human ensembl 74_37 -1 known silent c.1227 p.S409 0.102 pfam_Glyco_trans_13 pfam_Glyco_trans_13 - no_errors MGAT1 HGNC ENSG00000131446 64 0 0 8 26 76.4706 AGXT2 0 genome.wustl.edu 37 5 35033644 35033644 + Missense_Mutation SNP C C A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 5 35033644 35033644 C A SNP AGXT2 ENST00000231420 human ensembl 74_37 -1 known missense c.596 p.G199V 0.998 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT2 HGNC ENSG00000113492 100 0 0 42 25 37.3134 BAI3 0 genome.wustl.edu 37 6 69349199 69349199 + Missense_Mutation SNP C C T TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 6 69349199 69349199 C T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.632 p.S211L 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 122 0 0 8 35 81.3953 SENP6 0 genome.wustl.edu 37 6 76376638 76376638 + Missense_Mutation SNP A A C TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 6 76376638 76376638 A C SNP SENP6 ENST00000370014 human ensembl 74_37 +1 known missense c.1205 p.K402T 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP6 HGNC ENSG00000112701 93 0 0 41 6 12.766 HOXA3 0 genome.wustl.edu 37 7 27147975 27147975 + Silent SNP G G A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 7 27147975 27147975 G A SNP HOXA3 ENST00000317201 human ensembl 74_37 -1 known silent c.891 p.F297 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 59 0 0 41 20 32.7869 ABCB1 0 genome.wustl.edu 37 7 87144608 87144608 + Missense_Mutation SNP C C A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 7 87144608 87144608 C A SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.3221 p.C1074F 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 75 0 0 65 21 24.4186 TBC1D31 0 genome.wustl.edu 37 8 124094943 124094943 + Missense_Mutation SNP T T G TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 8 124094943 124094943 T G SNP TBC1D31 ENST00000287380 human ensembl 74_37 +1 known missense c.226 p.F76V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat 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 112 0 0 28 21 42.8571 POU5F1B 0 genome.wustl.edu 37 8 128428332 128428332 + Missense_Mutation SNP C C T TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 8 128428332 128428332 C T SNP POU5F1B ENST00000391675 human ensembl 74_37 +1 known missense c.221 p.A74V 0.000 NULL 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 POU5F1B HGNC ENSG00000212993 30 0 0 16 6 27.2727 OC90 0 genome.wustl.edu 37 8 133045361 133045361 + Missense_Mutation SNP C C A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 8 133045361 133045361 C A SNP OC90 ENST00000443356 human ensembl 74_37 -1 known missense c.832 p.V278F 0.000 NULL pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors OC90 Uniprot_gn ENSG00000258417 26 0 0 8 3 27.2727 CCDC180 0 genome.wustl.edu 37 9 100053767 100053767 + Silent SNP G G C TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 9 100053767 100053767 G C SNP CCDC180 ENST00000357054 human ensembl 74_37 +1 known silent c.84 p.G28 0.162 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 144 0 0 59 40 40.404 NR5A1 0 genome.wustl.edu 37 9 127262899 127262899 + Missense_Mutation SNP G G A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 9 127262899 127262899 G A SNP NR5A1 ENST00000373588 human ensembl 74_37 -1 known missense c.340 p.R114W 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,pirsf_Steroidogenic_factor_1 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,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A1 HGNC ENSG00000136931 38 0 0 22 12 35.2941 GLT6D1 0 genome.wustl.edu 37 9 138523289 138523289 + Missense_Mutation SNP C C A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 9 138523289 138523289 C A SNP GLT6D1 ENST00000371763 human ensembl 74_37 -1 known missense c.107 p.W36L 0.995 pfam_Glyco_trans_6 pfam_Glyco_trans_6 - no_errors GLT6D1 HGNC ENSG00000204007 173 0 0 52 38 42.2222 ZNF645 0 genome.wustl.edu 37 X 22291218 22291218 + Missense_Mutation SNP G G A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 X 22291218 22291218 G A SNP ZNF645 ENST00000323684 human ensembl 74_37 +1 known missense c.110 p.R37H 0.000 NULL pfscan_Znf_RING,pfscan_Znf_C2H2 - no_errors ZNF645 HGNC ENSG00000175809 110 0 0 8 52 86.6667 TTF2 0 genome.wustl.edu 37 1 117640055 117640061 + Frame_Shift_Del DEL GGTAATG GGTAATG - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 GGTAATG GGTAATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 1 117640055 117640061 GGTAATG - DEL TTF2 ENST00000369466 human ensembl 74_37 +1 known frame_shift_del c.3269 p.W1090fs 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 342 0 0 109 42 27.8146 MRPS21 0 genome.wustl.edu 37 1 150266866 150266875 + Frame_Shift_Del DEL ACAGGTAACT ACAGGTAACT - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 ACAGGTAACT ACAGGTAACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 1 150266866 150266875 ACAGGTAACT - DEL MRPS21 ENST00000309092 human ensembl 74_37 +1 known frame_shift_del c.80_83 p.N27fs 1.000:1.000:1.000:1.000 pfam_Ribosomal_S21,tigrfam_Ribosomal_S21 pfam_Ribosomal_S21,tigrfam_Ribosomal_S21 - no_errors MRPS21 HGNC ENSG00000187145 52 0 0 31 15 32.6087 SPTA1 0 genome.wustl.edu 37 1 158626436 158626436 + Frame_Shift_Del DEL T T - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 1 158626436 158626436 T - DEL SPTA1 ENST00000368147 human ensembl 74_37 -1 known frame_shift_del c.2816 p.K939fs 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin 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 362 0 0 171 9 5 RABGAP1L 0 genome.wustl.edu 37 1 174340152 174340153 + Frame_Shift_Ins INS - - TGTC TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 1 174340152 174340153 - TGTC INS RABGAP1L ENST00000251507 human ensembl 74_37 +1 known frame_shift_ins c.1501_1502 p.K503fs 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 RABGAP1L HGNC ENSG00000152061 179 0 0 55 25 31.25 ASPM 0 genome.wustl.edu 37 1 197112645 197112657 + Frame_Shift_Del DEL GTAGTAGATCGAC GTAGTAGATCGAC - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 GTAGTAGATCGAC GTAGTAGATCGAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 1 197112645 197112657 GTAGTAGATCGAC - DEL ASPM ENST00000367409 human ensembl 74_37 -1 known frame_shift_del c.737_725 p.R242fs 0.097:0.006:0.002:0.253:0.249:0.232:0.252:0.218:0.000:0.000:0.000:0.000:0.003 NULL 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 281 0 0 151 31 17.033 ENAH 0 genome.wustl.edu 37 1 225755107 225755108 + Frame_Shift_Ins INS - - CT TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 1 225755107 225755108 - CT INS ENAH ENST00000366844 human ensembl 74_37 -1 known frame_shift_ins c.15_14 p.S5fs 1.000:1.000 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors ENAH HGNC ENSG00000154380 213 0 0 122 10 7.57576 MAP3K6 0 genome.wustl.edu 37 1 27683543 27683544 + In_Frame_Ins INS - - AGT TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 1 27683543 27683544 - AGT INS MAP3K6 ENST00000357582 human ensembl 74_37 -1 known in_frame_ins c.3321_3320 p.1109in_frame_insL 1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K6 HGNC ENSG00000142733 52 0 0 12 14 53.8462 C1orf177 0 genome.wustl.edu 37 1 55307376 55307381 + Splice_Site DEL GTACCT GTACCT - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 GTACCT GTACCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 1 55307376 55307381 GTACCT - DEL C1orf177 ENST00000358193 human ensembl 74_37 +1 known splice_site_del c.1245+1_6 e10+1 0.008:0.021:0.027:0.028:0.006:0.000 - - - no_errors C1orf177 HGNC ENSG00000162398 95 0 0 47 20 29.8507 RERE 0 genome.wustl.edu 37 1 8415164 8415166 + In_Frame_Del DEL CTT CTT - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 1 8415164 8415166 CTT - DEL RERE ENST00000337907 human ensembl 74_37 -1 known in_frame_del c.4684_4682 p.E1561in_frame_del 1.000:1.000:1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 109 0 0 46 27 36.9863 TRIM8 0 genome.wustl.edu 37 10 104416942 104416943 + Frame_Shift_Ins INS - - AGTG TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 10 104416942 104416943 - AGTG INS TRIM8 ENST00000302424 human ensembl 74_37 +1 known frame_shift_ins c.1487_1488 p.P498fs 1.000:1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TRIM8 HGNC ENSG00000171206 48 0 0 14 18 56.25 ACBD5 0 genome.wustl.edu 37 10 27529251 27529252 + Frame_Shift_Ins INS - - C TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 10 27529251 27529252 - C INS ACBD5 ENST00000375888 human ensembl 74_37 -1 known frame_shift_ins c.172_171 p.N57fs 1.000:1.000 pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein - no_errors ACBD5 HGNC ENSG00000107897 106 0 0 49 25 33.7838 FZD8 0 genome.wustl.edu 37 10 35930230 35930237 + Frame_Shift_Del DEL CACAGCGG CACAGCGG - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 CACAGCGG CACAGCGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 10 35930230 35930237 CACAGCGG - DEL FZD8 ENST00000374694 human ensembl 74_37 -1 known frame_shift_del c.128_121 p.P41fs 1.000:1.000:1.000:1.000:1.000:0.965:1.000:1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD8 HGNC ENSG00000177283 42 0 0 17 14 45.1613 PTEN 0 genome.wustl.edu 37 10 89711879 89711880 + Frame_Shift_Ins INS - - A TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 10 89711879 89711880 - A INS PTEN ENST00000371953 human ensembl 74_37 +1 known frame_shift_ins c.497_498 p.T167fs 1.000:0.996 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 326 0 0 37 46 55.4217 CELF1 0 genome.wustl.edu 37 11 47510448 47510451 + Frame_Shift_Del DEL CCAT CCAT - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 CCAT CCAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 11 47510448 47510451 CCAT - DEL CELF1 ENST00000532048 human ensembl 74_37 -1 known frame_shift_del c.200_197 p.Y66fs 1.000:1.000:1.000:1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF1 HGNC ENSG00000149187 311 0 0 126 57 31.1475 RTN4RL2 0 genome.wustl.edu 37 11 57243814 57243815 + Frame_Shift_Ins INS - - CT TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 11 57243814 57243815 - CT INS RTN4RL2 ENST00000335099 human ensembl 74_37 +1 known frame_shift_ins c.693_694 p.Y232fs 1.000:1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL2 HGNC ENSG00000186907 41 0 0 36 20 35.7143 UBXN1 0 genome.wustl.edu 37 11 62446163 62446165 + In_Frame_Del DEL AGT AGT - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 AGT AGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 11 62446163 62446165 AGT - DEL UBXN1 ENST00000294119 human ensembl 74_37 -1 known in_frame_del c.112_110 p.DW37in_frame_delG 1.000:1.000:1.000 pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_UBX,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_UBX,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_UBX - no_errors UBXN1 HGNC ENSG00000162191 39 0 0 18 12 40 PYGM 0 genome.wustl.edu 37 11 64514700 64514704 + Frame_Shift_Del DEL CATGG CATGG - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 CATGG CATGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 11 64514700 64514704 CATGG - DEL PYGM ENST00000164139 human ensembl 74_37 -1 known frame_shift_del c.2308_2304 p.H768fs 1.000:0.992:1.000:1.000:1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 75 0 0 38 18 32.1429 KAT5 0 genome.wustl.edu 37 11 65480413 65480414 + Frame_Shift_Ins INS - - G TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 11 65480413 65480414 - G INS KAT5 ENST00000341318 human ensembl 74_37 +1 known frame_shift_ins c.268_269 p.V91fs 1.000:1.000 pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT5 HGNC ENSG00000172977 146 0 0 58 42 42 ACACB 0 genome.wustl.edu 37 12 109637263 109637267 + Frame_Shift_Del DEL CAGTC CAGTC - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 CAGTC CAGTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 12 109637263 109637267 CAGTC - DEL ACACB ENST00000338432 human ensembl 74_37 +1 known frame_shift_del c.2684_2688 p.V896fs 1.000:0.902:0.982:1.000:0.999 superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl 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 172 0 0 11 46 80.7018 EP400 0 genome.wustl.edu 37 12 132547135 132547136 + In_Frame_Ins INS - - CAG TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 12 132547135 132547136 - CAG INS EP400 ENST00000333577 human ensembl 74_37 +1 known in_frame_ins c.8331_8332 p.2781in_frame_insQ 0.764:0.650 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 27 0 0 38 18 32.1429 FAM155A 0 genome.wustl.edu 37 13 108518687 108518689 + In_Frame_Del DEL CTG CTG - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 13 108518687 108518689 CTG - DEL FAM155A ENST00000375915 human ensembl 74_37 -1 known in_frame_del c.258_256 p.Q86in_frame_del 1.000:0.992:0.987 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 24 0 0 67 9 11.8421 MTMR6 0 genome.wustl.edu 37 13 25840027 25840029 + In_Frame_Del DEL ATT ATT - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 ATT ATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 13 25840027 25840029 ATT - DEL MTMR6 ENST00000381801 human ensembl 74_37 -1 known in_frame_del c.521_519 p.I174in_frame_del 1.000:0.999:0.653 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR6 HGNC ENSG00000139505 308 0 0 139 10 6.71141 TTC7B 0 genome.wustl.edu 37 14 91247181 91247195 + In_Frame_Del DEL CTTCTTTATAATCAC CTTCTTTATAATCAC - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 CTTCTTTATAATCAC CTTCTTTATAATCAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 14 91247181 91247195 CTTCTTTATAATCAC - DEL TTC7B ENST00000357056 human ensembl 74_37 -1 known in_frame_del c.346_332 p.GDYKE111in_frame_del 1.000:1.000:1.000:1.000:0.910:0.994:0.993:0.933:0.988:0.994:0.961:0.997:0.996:0.106:0.998 NULL pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 172 0 0 65 23 26.1364 DNM1P47 0 genome.wustl.edu 37 15 102292783 102292786 + RNA DEL CTCA CTCA - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 CTCA CTCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 15 102292783 102292786 CTCA - DEL DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000:0.999:0.997 - - - no_errors DNM1P47 HGNC ENSG00000259660 11 0 0 26 7 21.2121 MGA 0 genome.wustl.edu 37 15 41961590 41961590 + Frame_Shift_Del DEL T T - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 15 41961590 41961590 T - DEL MGA ENST00000219905 human ensembl 74_37 +1 known frame_shift_del c.498 p.H167fs 0.999 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 679 0 0 237 147 38.2812 MGA 0 genome.wustl.edu 37 15 42057159 42057188 + In_Frame_Del DEL TAAAAGGTCCCCTATTCTCAGGACCAGTGG TAAAAGGTCCCCTATTCTCAGGACCAGTGG - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 TAAAAGGTCCCCTATTCTCAGGACCAGTGG TAAAAGGTCCCCTATTCTCAGGACCAGTGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 15 42057159 42057188 TAAAAGGTCCCCTATTCTCAGGACCAGTGG - DEL MGA ENST00000219905 human ensembl 74_37 +1 known in_frame_del c.7820_7849 p.KGPLFSGPVV2608in_frame_del 0.979:0.979:1.000:1.000:1.000:1.000:1.000:0.990:0.998:0.991:0.043:0.027:0.310:0.306:0.467:0.571:0.570:0.922:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 411 0 0 146 10 6.41026 SLC30A4 0 genome.wustl.edu 37 15 45777428 45777429 + Frame_Shift_Del DEL AT AT - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 15 45777428 45777429 AT - DEL SLC30A4 ENST00000261867 human ensembl 74_37 -1 known frame_shift_del c.1223_1222 p.I408fs 1.000:1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A4 HGNC ENSG00000104154 86 0 0 27 18 40 MCTP2 0 genome.wustl.edu 37 15 94883506 94883507 + Splice_Site INS - - ACCG TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 15 94883506 94883507 - ACCG INS MCTP2 ENST00000357742 human ensembl 74_37 +1 known splice_site_ins c.857+2_857+1 e5+2 1.000:0.998 - - - no_errors MCTP2 HGNC ENSG00000140563 249 0 0 67 23 25.5556 SEZ6L2 0 genome.wustl.edu 37 16 29883844 29883845 + Frame_Shift_Ins INS - - TCAC TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 16 29883844 29883845 - TCAC INS SEZ6L2 ENST00000308713 human ensembl 74_37 -1 known frame_shift_ins c.2492_2491 p.T831fs 1.000:1.000 NULL pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 125 0 0 68 29 29.8969 PAPD5 0 genome.wustl.edu 37 16 50258847 50258848 + Frame_Shift_Ins INS - - AG TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 16 50258847 50258848 - AG INS PAPD5 ENST00000436909 human ensembl 74_37 +1 known frame_shift_ins c.1509_1510 p.D504fs 0.123:0.789 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD5 HGNC ENSG00000121274 278 0 0 109 51 31.875 PRPSAP2 0 genome.wustl.edu 37 17 18833952 18833977 + Frame_Shift_Del DEL CGGATCCACAATGGGGAGTCCATGTC CGGATCCACAATGGGGAGTCCATGTC - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 CGGATCCACAATGGGGAGTCCATGTC CGGATCCACAATGGGGAGTCCATGTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 17 18833952 18833977 CGGATCCACAATGGGGAGTCCATGTC - DEL PRPSAP2 ENST00000268835 human ensembl 74_37 +1 known frame_shift_del c.1051_1076 p.R351fs 1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.845:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 tigrfam_Rib-P_diPkinase tigrfam_Rib-P_diPkinase - no_errors PRPSAP2 HGNC ENSG00000141127 110 0 0 35 11 23.913 NLK 0 genome.wustl.edu 37 17 26512205 26512210 + In_Frame_Del DEL CCATCT CCATCT - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 CCATCT CCATCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 17 26512205 26512210 CCATCT - DEL NLK ENST00000407008 human ensembl 74_37 +1 known in_frame_del c.1150_1155 p.PS384in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NLK HGNC ENSG00000087095 28 0 0 6 3 33.3333 SYNRG 0 genome.wustl.edu 37 17 35930790 35930791 + Frame_Shift_Ins INS - - C TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 17 35930790 35930791 - C INS SYNRG ENST00000339208 human ensembl 74_37 -1 known frame_shift_ins c.1293_1292 p.G432fs 0.999:1.000 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 87 0 0 35 25 41.6667 PSMD12 0 genome.wustl.edu 37 17 65341955 65341956 + Frame_Shift_Ins INS - - T TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 17 65341955 65341956 - T INS PSMD12 ENST00000356126 human ensembl 74_37 -1 known frame_shift_ins c.814_813 p.L271fs 1.000:0.999 NULL pfam_PCI_dom,smart_PCI_dom - no_errors PSMD12 HGNC ENSG00000197170 127 0 0 49 16 24.6154 WDR16 0 genome.wustl.edu 37 17 9490044 9490045 + Frame_Shift_Ins INS - - AG TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 17 9490044 9490045 - AG INS WDR16 ENST00000299764 human ensembl 74_37 +1 known frame_shift_ins c.330_331 p.L112fs 0.992:0.998 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 WDR16 HGNC ENSG00000166596 115 0 0 16 24 60 VAV1 0 genome.wustl.edu 37 19 6829798 6829799 + Frame_Shift_Ins INS - - ATGC TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 19 6829798 6829799 - ATGC INS VAV1 ENST00000602142 human ensembl 74_37 +1 known frame_shift_ins c.1267_1268 p.F425fs 1.000:0.996 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 246 0 0 34 33 49.2537 IFIH1 0 genome.wustl.edu 37 2 163133243 163133249 + Frame_Shift_Del DEL TGGTGGG TGGTGGG - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 TGGTGGG TGGTGGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 2 163133243 163133249 TGGTGGG - DEL IFIH1 ENST00000263642 human ensembl 74_37 -1 known frame_shift_del c.2258_2252 p.A751fs 0.999:0.995:0.519:0.545:0.505:0.402:1.000 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 251 0 0 93 28 23.1405 ABCA12 0 genome.wustl.edu 37 2 215843526 215843528 + Splice_Site DEL ACC ACC - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 ACC ACC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 2 215843526 215843528 ACC - DEL ABCA12 ENST00000272895 human ensembl 74_37 -1 known splice_site_del c.4977+2_4977+1 e33-1 1.000:1.000:1.000 - - - no_errors ABCA12 HGNC ENSG00000144452 152 0 0 55 43 43.8776 GBX2 0 genome.wustl.edu 37 2 237076315 237076316 + Frame_Shift_Del DEL GA GA - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 2 237076315 237076316 GA - DEL GBX2 ENST00000306318 human ensembl 74_37 -1 known frame_shift_del c.300_299 p.L100fs 1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors GBX2 HGNC ENSG00000168505 17 0 0 4 4 50 HDAC4 0 genome.wustl.edu 37 2 240078399 240078408 + Frame_Shift_Del DEL GGTGGTTATA GGTGGTTATA - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 GGTGGTTATA GGTGGTTATA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 2 240078399 240078408 GGTGGTTATA - DEL HDAC4 ENST00000345617 human ensembl 74_37 -1 known frame_shift_del c.682_673 p.Y225fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 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 120 0 0 56 21 27.2727 KIF1A 0 genome.wustl.edu 37 2 241713674 241713676 + In_Frame_Del DEL ACC ACC - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 ACC ACC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 2 241713674 241713676 ACC - DEL KIF1A ENST00000498729 human ensembl 74_37 -1 known in_frame_del c.963_961 p.G321in_frame_del 0.948:1.000:1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom 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 58 0 0 11 6 35.2941 DYSF 0 genome.wustl.edu 37 2 71781054 71781055 + Frame_Shift_Ins INS - - CCAG TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 2 71781054 71781055 - CCAG INS DYSF ENST00000413539 human ensembl 74_37 +1 known frame_shift_ins c.2141_2142 p.R715fs 0.987:0.985 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 60 0 0 32 8 20 REG1P 0 genome.wustl.edu 37 2 79363175 79363176 + RNA INS - - C TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 2 79363175 79363176 - C INS REG1P ENST00000377435 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors REG1P HGNC ENSG00000204787 38 0 0 17 8 32 KCMF1 0 genome.wustl.edu 37 2 85255125 85255133 + In_Frame_Del DEL ACAAGGCAT ACAAGGCAT - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 ACAAGGCAT ACAAGGCAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 2 85255125 85255133 ACAAGGCAT - DEL KCMF1 ENST00000409785 human ensembl 74_37 +1 known in_frame_del c.130_138 p.RHT45in_frame_del 1.000:1.000:0.975:1.000:1.000:1.000:1.000:1.000:1.000 pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ pfam_Znf_ZZ,pfam_Di19_Zn_binding,smart_Znf_ZZ,smart_Znf_C2H2-like,pfscan_Znf_ZZ,pfscan_Znf_C2H2 - no_errors KCMF1 HGNC ENSG00000176407 122 0 0 37 9 19.5652 ACSS1 0 genome.wustl.edu 37 20 24995855 24995856 + Frame_Shift_Ins INS - - G TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 20 24995855 24995856 - G INS ACSS1 ENST00000323482 human ensembl 74_37 -1 known frame_shift_ins c.1258_1257 p.I419fs 0.998:0.531 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 134 0 0 44 18 29.0323 PTK6 0 genome.wustl.edu 37 20 62161438 62161439 + Frame_Shift_Del DEL GG GG - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 20 62161438 62161439 GG - DEL PTK6 ENST00000217185 human ensembl 74_37 -1 known frame_shift_del c.1161_1160 p.P387fs 0.970:1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors PTK6 HGNC ENSG00000101213 66 0 0 54 18 25 MED15 0 genome.wustl.edu 37 22 20920813 20920814 + In_Frame_Ins INS - - CAG TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 22 20920813 20920814 - CAG INS MED15 ENST00000263205 human ensembl 74_37 +1 known in_frame_ins c.750_751 p.254in_frame_insQ 0.993:0.998 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 29 0 0 24 23 48.9362 TF 0 genome.wustl.edu 37 3 133485263 133485264 + Frame_Shift_Ins INS - - C TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 3 133485263 133485264 - C INS TF ENST00000402696 human ensembl 74_37 +1 known frame_shift_ins c.1472_1473 p.H492fs 0.012:0.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 241 0 0 126 167 56.9966 PAQR9 0 genome.wustl.edu 37 3 142681655 142681656 + Frame_Shift_Ins INS - - G TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 3 142681655 142681656 - G INS PAQR9 ENST00000340634 human ensembl 74_37 -1 known frame_shift_ins c.524_523 p.Y175fs 1.000:1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 33 0 0 45 9 16.6667 LXN 0 genome.wustl.edu 37 3 158390244 158390245 + Frame_Shift_Ins INS - - TAGT TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 3 158390244 158390245 - TAGT INS LXN ENST00000264265 human ensembl 74_37 -1 known frame_shift_ins c.24_23 p.Y8fs 0.876:0.774 pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin - no_errors LXN HGNC ENSG00000079257 139 0 0 132 26 16.4557 SI 0 genome.wustl.edu 37 3 164786938 164786941 + Frame_Shift_Del DEL AGTC AGTC - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 AGTC AGTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 3 164786938 164786941 AGTC - DEL SI ENST00000264382 human ensembl 74_37 -1 known frame_shift_del c.301_298 p.D100fs 0.005:0.000:0.000:0.000 pfam_P_trefoil,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 61 0 0 30 41 57.7465 GNB4 0 genome.wustl.edu 37 3 179132768 179132775 + Frame_Shift_Del DEL ACATAATT ACATAATT - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 ACATAATT ACATAATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 3 179132768 179132775 ACATAATT - DEL GNB4 ENST00000232564 human ensembl 74_37 -1 known frame_shift_del c.335_328 p.N110fs 0.999:1.000:0.625:0.994:1.000:0.991:1.000:1.000 pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,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 224 0 0 275 15 5.17241 KNG1 0 genome.wustl.edu 37 3 186449361 186449365 + Frame_Shift_Del DEL TACAT TACAT - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 TACAT TACAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 3 186449361 186449365 TACAT - DEL KNG1 ENST00000265023 human ensembl 74_37 +1 known frame_shift_del c.700_704 p.Y234fs 0.000:0.000:0.000:0.000:0.025 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen - no_errors KNG1 HGNC ENSG00000113889 126 0 0 67 5 6.94444 TM4SF19 0 genome.wustl.edu 37 3 196051187 196051188 + Frame_Shift_Ins INS - - TC TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 3 196051187 196051188 - TC INS TM4SF19 ENST00000273695 human ensembl 74_37 -1 known frame_shift_ins c.404_403 p.T135fs 1.000:1.000 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF19 HGNC ENSG00000145107 129 0 0 53 63 54.3103 SGOL1 0 genome.wustl.edu 37 3 20202702 20202703 + Frame_Shift_Ins INS - - GA TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 3 20202702 20202703 - GA INS SGOL1 ENST00000263753 human ensembl 74_37 -1 known frame_shift_ins c.1581_1580 p.P528fs 0.001:0.002 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 49 0 0 3 19 86.3636 ARPP21 0 genome.wustl.edu 37 3 35723279 35723279 + Frame_Shift_Del DEL A A - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 3 35723279 35723279 A - DEL ARPP21 ENST00000417925 human ensembl 74_37 +1 known frame_shift_del c.36 p.E13fs 0.572 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 70 0 0 40 21 34.4262 CACNA1D 0 genome.wustl.edu 37 3 53836195 53836209 + Splice_Site DEL CATTAGGTATGTGCT CATTAGGTATGTGCT - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 CATTAGGTATGTGCT CATTAGGTATGTGCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 3 53836195 53836209 CATTAGGTATGTGCT - DEL CACNA1D ENST00000288139 human ensembl 74_37 +1 known splice_site_del c.5495+7_5495+1 e45-1 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.976:1.000:1.000:0.025:0.001:0.000 - - - no_errors CACNA1D HGNC ENSG00000157388 386 0 0 15 18 54.5455 OGG1 0 genome.wustl.edu 37 3 9792006 9792007 + Frame_Shift_Ins INS - - C TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 3 9792006 9792007 - C INS OGG1 ENST00000302036 human ensembl 74_37 +1 known frame_shift_ins c.36_37 p.H12fs 0.002:0.987 tigrfam_Ogg pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg - no_errors OGG1 HGNC ENSG00000114026 36 0 0 10 38 79.1667 DHX15 0 genome.wustl.edu 37 4 24529563 24529564 + Frame_Shift_Ins INS - - CC TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 4 24529563 24529564 - CC INS DHX15 ENST00000336812 human ensembl 74_37 -1 known frame_shift_ins c.2372_2371 p.E791fs 1.000:1.000 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,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 DHX15 HGNC ENSG00000109606 165 0 0 37 19 33.9286 AASDH 0 genome.wustl.edu 37 4 57244590 57244591 + Frame_Shift_Ins INS - - TATCA TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 4 57244590 57244591 - TATCA INS AASDH ENST00000205214 human ensembl 74_37 -1 known frame_shift_ins c.392_391 p.T131fs 0.005:0.004 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 105 0 0 55 12 17.9104 DIAPH1 0 genome.wustl.edu 37 5 140951490 140951492 + Splice_Site DEL CAC CAC - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 CAC CAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 5 140951490 140951492 CAC - DEL DIAPH1 ENST00000253811 human ensembl 74_37 -1 known splice_site_del c.2473+1_2473+1 e17+1 1.000:1.000:1.000 - - - no_errors DIAPH1 HGNC ENSG00000131504 232 0 0 15 42 73.6842 PAPD4 0 genome.wustl.edu 37 5 78981056 78981065 + Frame_Shift_Del DEL ACAGTATACT ACAGTATACT - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 ACAGTATACT ACAGTATACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 5 78981056 78981065 ACAGTATACT - DEL PAPD4 ENST00000296783 human ensembl 74_37 +1 known frame_shift_del c.1415_1424 p.S473fs 1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000 NULL pfam_PAP_assoc - no_errors PAPD4 HGNC ENSG00000164329 167 0 0 7 24 77.4194 WRNIP1 0 genome.wustl.edu 37 6 2783745 2783746 + Frame_Shift_Ins INS - - C TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 6 2783745 2783746 - C INS WRNIP1 ENST00000380773 human ensembl 74_37 +1 known frame_shift_ins c.1592_1593 p.L533fs 1.000:1.000 pfam_MgsA_C pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC ENSG00000124535 37 0 0 27 13 32.5 HLA-E 0 genome.wustl.edu 37 6 30460197 30460198 + Frame_Shift_Ins INS - - T TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 6 30460197 30460198 - T INS HLA-E ENST00000376630 human ensembl 74_37 +1 known frame_shift_ins c.1020_1021 p.Y340fs 0.002:0.004 NULL 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 173 0 0 97 49 33.5616 GABRR2 0 genome.wustl.edu 37 6 89977396 89977397 + Splice_Site DEL AC AC - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 6 89977396 89977397 AC - DEL GABRR2 ENST00000602399 human ensembl 74_37 -1 known splice_site_del c.811+1_811+1 e6+1 1.000:1.000 - - - no_errors GABRR2 HGNC ENSG00000111886 147 0 0 11 22 66.6667 PLEKHA8 0 genome.wustl.edu 37 7 30089000 30089001 + Splice_Site INS - - AA TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 7 30089000 30089001 - AA INS PLEKHA8 ENST00000449726 human ensembl 74_37 +1 known splice_site_ins c.597+2_597+1 e5+2 1.000:0.917 - - - no_errors PLEKHA8 HGNC ENSG00000106086 163 0 0 62 50 44.6429 DOK2 0 genome.wustl.edu 37 8 21767077 21767078 + Frame_Shift_Ins INS - - G TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 8 21767077 21767078 - G INS DOK2 ENST00000276420 human ensembl 74_37 -1 known frame_shift_ins c.984_983 p.L329fs 1.000:1.000 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK2 HGNC ENSG00000147443 167 0 0 120 39 24.5283 ZNF395 0 genome.wustl.edu 37 8 28209226 28209228 + In_Frame_Del DEL GCA GCA - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 8 28209226 28209228 GCA - DEL ZNF395 ENST00000344423 human ensembl 74_37 -1 known in_frame_del c.1019_1017 p.A341in_frame_del 0.082:0.295:0.411 NULL pfscan_Znf_C2H2 - no_errors ZNF395 HGNC ENSG00000186918 100 0 0 202 13 6.04651 SGK223 0 genome.wustl.edu 37 8 8234868 8234869 + In_Frame_Ins INS - - GCCGCT TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 8 8234868 8234869 - GCCGCT INS SGK223 ENST00000330777 human ensembl 74_37 -1 known in_frame_ins c.1051_1050 p.350in_frame_insSG 0.002:0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 10 0 0 11 8 42.1053 OR1L8 0 genome.wustl.edu 37 9 125330644 125330650 + Frame_Shift_Del DEL ACCAGGT ACCAGGT - TCGA-CG-5725-01A-11D-1600-08 TCGA-CG-5725-11A-01D-1600-08 ACCAGGT ACCAGGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 237e7e70-aa88-4bed-b032-318d262ea05b 15f67581-da8c-4ffc-9a81-9ae14fe3e2f1 9 125330644 125330650 ACCAGGT - DEL OR1L8 ENST00000304865 human ensembl 74_37 -1 known frame_shift_del c.113_107 p.Y36fs 0.767:0.019:0.247:0.983:0.991:0.999:0.999 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L8 HGNC ENSG00000171496 128 0 0 88 9 9.27835