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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val PPFIA2 0 genome.wustl.edu 37 12 81777917 81777917 + Missense_Mutation SNP C C A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 12 81777917 81777917 C A SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.869 p.R290L 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 tier1 - - 51 0 0.00 21 10 32.26 149 1 0.66 36 18 33.33 CKAP2 0 genome.wustl.edu 37 13 53048039 53048039 + Missense_Mutation SNP T T C TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 13 53048039 53048039 T C SNP CKAP2 ENST00000378037 human ensembl 74_37 +1 known missense c.1625 p.V542A 0.000 NULL NULL - no_errors CKAP2 HGNC ENSG00000136108 tier1 - - 113 0 0.00 54 17 23.94 220 0 0.00 96 33 25.58 NUF2 0 genome.wustl.edu 37 1 163313591 163313591 + Missense_Mutation SNP T T G TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 1 163313591 163313591 T G SNP NUF2 ENST00000271452 human ensembl 74_37 +1 known missense c.738 p.D246E 0.980 NULL pfam_Kinetochore_Nuf2 - no_errors NUF2 HGNC ENSG00000143228 tier1 - - 281 0 0.00 129 13 9.15 207 0 0.00 70 9 11.39 UBE2J1 0 genome.wustl.edu 37 6 90045027 90045027 + Missense_Mutation SNP G G T TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 6 90045027 90045027 G T SNP UBE2J1 ENST00000435041 human ensembl 74_37 -1 known missense c.552 p.S184R 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2J1 HGNC ENSG00000198833 tier1 - - 53 0 0.00 37 10 20.83 197 1 0.51 121 27 18.24 OR2V2 0 genome.wustl.edu 37 5 180582647 180582647 + Nonsense_Mutation SNP G G A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 5 180582647 180582647 G A SNP OR2V2 ENST00000328275 human ensembl 74_37 +1 known nonsense c.705 p.W235* 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2V2 HGNC ENSG00000182613 tier1 - - 73 0 0.00 19 16 45.71 105 0 0.00 31 12 27.91 IF1 0 genome.wustl.edu 37 9 21440957 21440957 + Missense_Mutation SNP A A T TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 9 21440957 21440957 A T SNP IF1 ENST00000276927 human ensembl 74_37 +1 known missense c.451 p.T151S 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IF1 HGNC ENSG00000197919 tier1 - - 42 0 0.00 17 13 43.33 28 0 0.00 13 6 31.58 HOOK1 0 genome.wustl.edu 37 1 60330673 60330673 + R SNP T T A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 1 60330673 60330673 T A SNP HOOK1 ENST00000466803 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HOOK1 HGNC ENSG00000134709 tier1 - - 22 0 0.00 12 7 36.84 243 0 0.00 48 54 52.94 APOB 0 genome.wustl.edu 37 2 21247913 21247913 + Nonsense_Mutation SNP G G T TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 2 21247913 21247913 G T SNP APOB ENST00000233242 human ensembl 74_37 -1 known nonsense c.2328 p.Y776* 1.000 pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 84 0 0.00 47 23 32.86 216 0 0.00 102 41 28.47 LGALS7B 0 genome.wustl.edu 37 19 39281369 39281369 + Missense_Mutation SNP G G A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 19 39281369 39281369 G A SNP LGALS7B ENST00000314980 human ensembl 74_37 +1 known missense c.136 p.D46N 0.022 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS7B HGNC ENSG00000178934 tier1 - - 265 0 0.00 192 24 11.11 67 0 0.00 69 10 12.66 FRMD4B 0 genome.wustl.edu 37 3 69230187 69230187 + Missense_Mutation SNP C C A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 3 69230187 69230187 C A SNP FRMD4B ENST00000398540 human ensembl 74_37 -1 known missense c.2714 p.R905L 1.000 NULL pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4B HGNC ENSG00000114541 tier1 - - 40 0 0.00 29 14 32.56 55 0 0.00 33 12 26.67 NRG3 0 genome.wustl.edu 37 10 84745311 84745311 + Missense_Mutation SNP C C A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 10 84745311 84745311 C A SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.2113 p.Q705K 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 tier1 - - 63 0 0.00 20 15 42.86 225 0 0.00 61 43 41.35 PLCL1 0 genome.wustl.edu 37 2 198948489 198948489 + Nonsense_Mutation SNP C C G TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 2 198948489 198948489 C G SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known nonsense c.248 p.S83* 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 tier1 - - 63 0 0.00 23 6 20.69 214 0 0.00 67 32 32.00 FASN 0 genome.wustl.edu 37 17 80042811 80042811 + Missense_Mutation SNP G G C TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 17 80042811 80042811 G C SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.4428 p.N1476K 1.000 NULL pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 tier1 - - 71 0 0.00 90 18 16.67 14 0 0.00 10 5 33.33 SCNN1G 0 genome.wustl.edu 37 16 23197815 23197815 + Missense_Mutation SNP G G A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 16 23197815 23197815 G A SNP SCNN1G ENST00000300061 human ensembl 74_37 +1 known missense c.223 p.V75I 0.713 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 tier1 - - 29 0 0.00 6 3 33.33 107 0 0.00 19 16 45.71 SNX29 0 genome.wustl.edu 37 16 12497352 12497352 + Missense_Mutation SNP G G A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 16 12497352 12497352 G A SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known missense c.848 p.R283Q 1.000 superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 tier1 - - 78 0 0.00 36 8 18.18 204 0 0.00 90 33 26.83 CDCP2 0 genome.wustl.edu 37 1 54610408 54610408 + Missense_Mutation SNP T T G TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 1 54610408 54610408 T G SNP CDCP2 ENST00000371330 human ensembl 74_37 -1 novel missense c.158 p.N53T 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom - no_errors CDCP2 HGNC ENSG00000157211 tier1 - - 68 0 0.00 38 14 26.92 165 0 0.00 102 32 23.88 ZFP37 0 genome.wustl.edu 37 9 115806243 115806243 + Missense_Mutation SNP T T C TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 9 115806243 115806243 T C SNP ZFP37 ENST00000553380 human ensembl 74_37 -1 known missense c.700 p.T234A 0.150 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 ZFP37 HGNC ENSG00000136866 tier1 - - 37 0 0.00 12 8 40.00 213 0 0.00 68 48 41.38 CD300LG 0 genome.wustl.edu 37 17 41930355 41930355 + Missense_Mutation SNP C C A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 17 41930355 41930355 C A SNP CD300LG ENST00000317310 human ensembl 74_37 +1 known missense c.455 p.A152D 0.029 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300LG HGNC ENSG00000161649 tier1 - - 70 0 0.00 39 23 37.10 129 0 0.00 68 34 33.33 TERT 0 genome.wustl.edu 37 5 1293552 1293552 + Silent SNP G G A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 5 1293552 1293552 G A SNP TERT ENST00000310581 human ensembl 74_37 -1 known silent c.1449 p.N483 0.984 pfam_Telomerase_RBD,smart_Telomerase_RBD pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 tier1 - - 29 0 0.00 33 15 31.25 62 0 0.00 50 32 39.02 CDH6 0 genome.wustl.edu 37 5 31317976 31317976 + Silent SNP G G T TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 5 31317976 31317976 G T SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known silent c.1827 p.T609 0.996 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 tier1 - - 48 0 0.00 39 5 11.11 136 0 0.00 85 17 16.50 USH2A 0 genome.wustl.edu 37 1 216062047 216062047 + Silent SNP G G T TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 1 216062047 216062047 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.7944 p.T2648 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 40 0 0.00 16 6 27.27 197 0 0.00 53 41 43.62 SYT9 0 genome.wustl.edu 37 11 7334914 7334914 + Silent SNP C C A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 11 7334914 7334914 C A SNP SYT9 ENST00000318881 human ensembl 74_37 +1 known silent c.786 p.I262 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC ENSG00000170743 tier1 - - 48 0 0.00 27 11 28.95 225 0 0.00 103 24 18.90 MAN2A2 0 genome.wustl.edu 37 15 91456916 91456916 + Missense_Mutation SNP A A G TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 15 91456916 91456916 A G SNP MAN2A2 ENST00000360468 human ensembl 74_37 +1 known missense c.2791 p.I931V 1.000 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 MAN2A2 HGNC ENSG00000196547 tier1 - - 27 0 0.00 23 4 14.81 107 0 0.00 78 18 18.75 SCAND3 0 genome.wustl.edu 37 6 28554200 28554200 + Missense_Mutation SNP G G T TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 6 28554200 28554200 G T SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.295 p.Q99K 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN 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 tier1 - - 67 0 0.00 56 9 13.85 82 0 0.00 54 29 34.94 PLEKHA2 0 genome.wustl.edu 37 8 38793524 38793524 + Missense_Mutation SNP G G C TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 8 38793524 38793524 G C SNP PLEKHA2 ENST00000420274 human ensembl 74_37 +1 known missense c.154 p.G52R 0.986 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA2 HGNC ENSG00000169499 tier1 - - 86 0 0.00 5 14 73.68 181 0 0.00 26 62 69.66 CDH12 0 genome.wustl.edu 37 5 21751881 21751881 + Missense_Mutation SNP C C T TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 5 21751881 21751881 C T SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.2350 p.E784K 0.998 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 49 0 0.00 12 36 75.00 149 0 0.00 49 105 67.74 MYO1H 0 genome.wustl.edu 37 12 109845713 109845713 + Missense_Mutation SNP A A G TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 12 109845713 109845713 A G SNP MYO1H ENST00000431443 human ensembl 74_37 +1 known missense c.1102 p.N368D 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1H HGNC ENSG00000174527 tier1 - - 119 0 0.00 49 23 31.94 262 0 0.00 116 56 32.56 ACSM4 0 genome.wustl.edu 37 12 7480905 7480905 + Missense_Mutation SNP C C A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 12 7480905 7480905 C A SNP ACSM4 ENST00000399422 human ensembl 74_37 +1 novel missense c.1679 p.P560Q 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM4 HGNC ENSG00000215009 tier1 - - 84 0 0.00 43 16 27.12 304 0 0.00 187 46 19.74 YTHDC2 0 genome.wustl.edu 37 5 112871433 112871433 + Missense_Mutation SNP C C A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 5 112871433 112871433 C A SNP YTHDC2 ENST00000161863 human ensembl 74_37 +1 known missense c.1040 p.S347Y 1.000 pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 tier1 - - 81 0 0.00 32 17 34.69 230 0 0.00 93 29 23.77 GCOM1 0 genome.wustl.edu 37 15 57918073 57918073 + Missense_Mutation SNP G G C TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 15 57918073 57918073 G C SNP GCOM1 ENST00000380569 human ensembl 74_37 +1 known missense c.508 p.D170H 0.994 NULL NULL - no_errors GCOM1 HGNC ENSG00000137878 tier1 - - 33 0 0.00 7 3 30.00 175 0 0.00 44 36 45.00 TP53 0 genome.wustl.edu 37 17 7577136 7577136 + Missense_Mutation SNP T T A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 17 7577136 7577136 T A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.802 p.N268Y 0.001 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 27 0 0.00 2 18 90.00 189 1 0.53 26 85 75.89 COL6A6 0 genome.wustl.edu 37 3 130282278 130282278 + Missense_Mutation SNP A A T TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 3 130282278 130282278 A T SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.431 p.E144V 0.895 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 tier1 - - 57 0 0.00 35 7 16.67 82 0 0.00 40 15 27.27 KC6 0 genome.wustl.edu 37 12 4919890 4919890 + Missense_Mutation SNP A A T TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 12 4919890 4919890 A T SNP KC6 ENST00000280684 human ensembl 74_37 +1 known missense c.683 p.E228V 0.070 prints_K_chnl_volt-dep_Kv1.6 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KC6 HGNC ENSG00000151079 tier1 - - 67 0 0.00 52 9 14.75 162 0 0.00 100 31 23.66 TMEM200A 0 genome.wustl.edu 37 6 130762280 130762280 + Missense_Mutation SNP G G C TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 6 130762280 130762280 G C SNP TMEM200A ENST00000296978 human ensembl 74_37 +1 known missense c.713 p.S238T 0.372 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC ENSG00000164484 tier1 - - 39 0 0.00 16 5 23.81 152 0 0.00 81 15 15.62 ASPDH 0 genome.wustl.edu 37 19 51015485 51015485 + Missense_Mutation SNP C C T TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 19 51015485 51015485 C T SNP ASPDH ENST00000389208 human ensembl 74_37 -1 known missense c.716 p.S239N 0.613 pfam_Asp_DH pfam_Asp_DH,pfam_Asp/hSer_DH_D-bd - no_errors ASPDH HGNC ENSG00000204653 tier1 - - 54 0 0.00 30 6 16.67 29 0 0.00 17 11 39.29 KIAA1468 0 genome.wustl.edu 37 18 59947038 59947038 + Missense_Mutation SNP T T C TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 18 59947038 59947038 T C SNP KIAA1468 ENST00000256858 human ensembl 74_37 +1 known missense c.3101 p.V1034A 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 tier1 - - 70 0 0.00 29 16 35.56 207 0 0.00 82 30 26.55 TP53 0 genome.wustl.edu 37 17 7577137 7577137 + Silent SNP C C T TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 17 7577137 7577137 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known silent c.801 p.R267 0.001 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 27 0 0.00 2 18 90.00 190 0 0.00 26 85 76.58 MAPK6 0 genome.wustl.edu 37 15 52338058 52338058 + R SNP G G C TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 15 52338058 52338058 G C SNP MAPK6 ENST00000558063 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors MAPK6 HGNC ENSG00000069956 tier1 - - 80 0 0.00 24 9 27.27 84 0 0.00 30 14 31.82 NBPF22P 0 genome.wustl.edu 37 5 85578685 85578685 + R SNP G G C TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 5 85578685 85578685 G C SNP NBPF22P ENST00000590707 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors NBPF22P HGNC ENSG00000205449 tier1 - - 156 0 0.00 87 26 23.01 79 0 0.00 42 14 25.00 GBP7 0 genome.wustl.edu 37 1 89618012 89618012 + Missense_Mutation SNP C C A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 1 89618012 89618012 C A SNP GBP7 ENST00000294671 human ensembl 74_37 -1 known missense c.564 p.K188N 0.981 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP7 HGNC ENSG00000213512 tier1 - - 64 0 0.00 33 11 25.00 179 0 0.00 95 30 23.44 ARPP19 0 genome.wustl.edu 37 15 52844135 52844135 + Missense_Mutation SNP C C T TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 15 52844135 52844135 C T SNP ARPP19 ENST00000249822 human ensembl 74_37 -1 known missense c.335 p.G112D 1.000 NULL pfam_Endosulphine - no_errors ARPP19 HGNC ENSG00000128989 tier1 - - 56 0 0.00 18 8 30.77 64 0 0.00 16 17 51.52 CRISP3 0 genome.wustl.edu 37 6 49705150 49705150 + Missense_Mutation SNP A A T TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 6 49705150 49705150 A T SNP CRISP3 ENST00000371159 human ensembl 74_37 -1 novel missense c.53 p.F18Y 0.000 NULL pfam_CAP_domain,pfam_Cysteine_rich_secretory,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors CRISP3 HGNC ENSG00000096006 tier1 - - 60 0 0.00 30 10 25.00 267 0 0.00 90 42 31.82 CP 0 genome.wustl.edu 37 3 148928119 148928119 + Nonsense_Mutation SNP T T A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 3 148928119 148928119 T A SNP CP ENST00000264613 human ensembl 74_37 -1 known nonsense c.442 p.K148* 1.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 tier1 - - 87 0 0.00 40 20 33.33 264 0 0.00 103 36 25.90 SFMBT2 0 genome.wustl.edu 37 10 7262457 7262457 + Missense_Mutation SNP C C A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 10 7262457 7262457 C A SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.1246 p.A416S 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt 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 tier1 - - 94 0 0.00 86 13 13.13 177 0 0.00 145 32 18.08 FOXD3 0 genome.wustl.edu 37 1 63789443 63789443 + Missense_Mutation SNP G G C TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 1 63789443 63789443 G C SNP FOXD3 ENST00000371116 human ensembl 74_37 +1 known missense c.714 p.K238N 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXD3 HGNC ENSG00000187140 tier1 - - 66 0 0.00 29 23 44.23 17 0 0.00 15 2 11.76 PPRC1 0 genome.wustl.edu 37 10 103901296 103901296 + Missense_Mutation SNP G G T TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 10 103901296 103901296 G T SNP PPRC1 ENST00000278070 human ensembl 74_37 +1 known missense c.3031 p.V1011F 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 tier1 - - 37 0 0.00 16 15 48.39 157 0 0.00 58 34 36.96 ZNF521 0 genome.wustl.edu 37 18 22806657 22806657 + Missense_Mutation SNP A A T TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 18 22806657 22806657 A T SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.1225 p.Y409N 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 60 0 0.00 27 14 34.15 188 0 0.00 94 33 25.98 MGA 0 genome.wustl.edu 37 15 41989072 41989072 + Missense_Mutation SNP C C G TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 15 41989072 41989072 C G SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.1864 p.L622V 0.983 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_D-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 tier1 - - 71 0 0.00 26 13 33.33 300 0 0.00 91 36 28.35 NOTCH3 0 genome.wustl.edu 37 19 15271540 15271540 + Missense_Mutation SNP A A T TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 19 15271540 15271540 A T SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.6899 p.L2300H 0.024 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 tier1 - - 76 0 0.00 40 12 23.08 56 0 0.00 24 7 22.58 KC6 0 genome.wustl.edu 37 12 4919850 4919850 + Missense_Mutation SNP T T A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 12 4919850 4919850 T A SNP KC6 ENST00000280684 human ensembl 74_37 +1 known missense c.643 p.S215T 0.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KC6 HGNC ENSG00000151079 tier1 - - 39 0 0.00 33 7 17.50 170 0 0.00 105 26 19.85 PCSK5 0 genome.wustl.edu 37 9 78710840 78710840 + Missense_Mutation SNP C C T TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 9 78710840 78710840 C T SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.929 p.A310V 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 tier1 - - 48 0 0.00 35 9 20.00 222 0 0.00 119 31 20.67 NUF2 0 genome.wustl.edu 37 1 163313586 163313586 + Missense_Mutation SNP G G A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 1 163313586 163313586 G A SNP NUF2 ENST00000271452 human ensembl 74_37 +1 known missense c.733 p.V245M 1.000 NULL pfam_Kinetochore_Nuf2 - no_errors NUF2 HGNC ENSG00000143228 tier1 - - 279 0 0.00 125 16 11.35 207 0 0.00 72 8 10.00 SCML2 0 genome.wustl.edu 37 X 18259309 18259309 + R SNP T T C TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd X 18259309 18259309 T C SNP SCML2 ENST00000491988 human ensembl 74_37 -1 known rna NULL NULL 0.043 - - - no_errors SCML2 HGNC ENSG00000102098 tier1 - - 49 0 0.00 28 17 37.78 161 0 0.00 119 47 28.14 CDCA2 0 genome.wustl.edu 37 8 25337454 25337454 + Silent SNP G G A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 8 25337454 25337454 G A SNP CDCA2 ENST00000330560 human ensembl 74_37 +1 known silent c.846 p.V282 0.002 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 tier1 - - 57 0 0.00 13 11 45.83 148 0 0.00 28 29 50.88 UNKL 0 genome.wustl.edu 37 16 1464016 1464016 + Missense_Mutation SNP A A G TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 16 1464016 1464016 A G SNP UNKL ENST00000397462 human ensembl 74_37 -1 known missense c.118 p.S40P 0.942 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNKL HGNC ENSG00000059145 tier1 rs202202852 GMAF=0.0005 61 0 0.00 14 14 50.00 66 0 0.00 23 16 41.03 SLURP1 0 genome.wustl.edu 37 8 143823300 143823300 + Silent SNP G G T TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 8 143823300 143823300 G T SNP SLURP1 ENST00000246515 human ensembl 74_37 -1 known silent c.99 p.T33 0.000 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors SLURP1 HGNC ENSG00000126233 tier1 - - 62 0 0.00 42 5 10.64 78 0 0.00 36 4 10.00 C12orf55 0 genome.wustl.edu 37 12 96883406 96883406 + Missense_Mutation SNP C C A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 12 96883406 96883406 C A SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.19 p.P7T 0.000 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 82 0 0.00 31 10 23.81 39 0 0.00 30 7 18.92 MYBPC2 0 genome.wustl.edu 37 19 50949209 50949209 + Silent SNP G G A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 19 50949209 50949209 G A SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known silent c.1206 p.K402 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 tier1 - - 63 0 0.00 16 14 46.67 190 1 0.52 38 30 44.12 BFAR 0 genome.wustl.edu 37 16 14761590 14761590 + Missense_Mutation SNP A A G TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 16 14761590 14761590 A G SNP BFAR ENST00000261658 human ensembl 74_37 +1 known missense c.1259 p.N420S 1.000 NULL pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors BFAR HGNC ENSG00000103429 tier1 - - 76 0 0.00 29 17 36.96 233 1 0.43 119 42 26.09 STX7 0 genome.wustl.edu 37 6 132781974 132781974 + Frame_Shift_Del DEL T T - TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 6 132781974 132781974 T - DEL STX7 ENST00000367941 human ensembl 74_37 -1 known frame_shift_del c.709 p.T237fs 1.000 NULL pfam_T_SRE_dom,pfam_Syntaxin_N,superfamily_t-SRE,smart_Syntaxin_N,smart_T_SRE_dom,pfscan_T_SRE_dom - no_errors STX7 HGNC ENSG00000079950 tier1 43 0 0.00 21 6 22.22 131 0 0.00 54 12 18.18 TP53 0 genome.wustl.edu 37 17 7577134 7577134 + Frame_Shift_Del DEL G G - TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 17 7577134 7577134 G - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.804 p.N268fs 0.425 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 28 0 0.00 3 16 84.21 189 0 0.00 28 83 74.77 ZEB2 0 genome.wustl.edu 37 2 145157714 145157715 + Frame_Shift_Del DEL TT TT - TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 TT TT TT - TT TT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 2 145157714 145157715 TT - DEL ZEB2 ENST00000303660 human ensembl 74_37 -1 known frame_shift_del c.1040_1039 p.N347fs 1.000:1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 tier1 104 0 0.00 51 13 20.31 232 0 0.00 139 36 20.57 SLC8A3 0 genome.wustl.edu 37 14 70634157 70634157 + Frame_Shift_Del DEL G G - TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 14 70634157 70634157 G - DEL SLC8A3 ENST00000381269 human ensembl 74_37 -1 known frame_shift_del c.983 p.P328fs 1.000 tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 tier1 52 0 0.00 20 7 25.93 214 0 0.00 46 36 43.90 AKAP11 0 genome.wustl.edu 37 13 42875991 42875991 + Frame_Shift_Del DEL A A - TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 13 42875991 42875991 A - DEL AKAP11 ENST00000025301 human ensembl 74_37 +1 known frame_shift_del c.3109 p.K1037fs 0.393 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 tier1 75 0 0.00 55 14 20.29 229 0 0.00 147 39 20.97 SLC12A9 0 genome.wustl.edu 37 7 100459181 100459192 + In_Frame_Del DEL TCAGCCAGGCCT TCAGCCAGGCCT - TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 TCAGCCAGGCCT TCAGCCAGGCCT TCAGCCAGGCCT - TCAGCCAGGCCT TCAGCCAGGCCT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 7 100459181 100459192 TCAGCCAGGCCT - DEL SLC12A9 ENST00000354161 human ensembl 74_37 +1 known in_frame_del c.1511_1522 p.SQAL505in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.992:0.999 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC12A9 HGNC ENSG00000146828 tier1 30 0 0.00 12 5 29.41 30 0 0.00 12 5 29.41 TSHZ2 0 genome.wustl.edu 37 20 51872532 51872539 + Frame_Shift_Del DEL GTCCAACT GTCCAACT - TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 GTCCAACT GTCCAACT GTCCAACT - GTCCAACT GTCCAACT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 20 51872532 51872539 GTCCAACT - DEL TSHZ2 ENST00000371497 human ensembl 74_37 +1 known frame_shift_del c.2535_2542 p.S846fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 superfamily_Homeodomain-like,smart_Homeobox_dom superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 tier1 197 0 0.00 114 14 10.94 197 0 0.00 114 14 10.94 SLC2A7 0 genome.wustl.edu 37 1 9070297 9070297 + Frame_Shift_Del DEL G G - TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 1 9070297 9070297 G - DEL SLC2A7 ENST00000400906 human ensembl 74_37 -1 known frame_shift_del c.1021 p.V342fs 0.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A7 HGNC ENSG00000197241 tier1 76 0 0.00 82 21 20.39 31 0 0.00 36 4 10.00 ARHGEF4 0 genome.wustl.edu 37 2 131803760 131803760 + Nonstop_Mutation SNP T T C TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 2 131803760 131803760 T C SNP ARHGEF4 ENST00000326016 human ensembl 74_37 +1 known nonstop c.2071 p.*691R 1.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF4 HGNC ENSG00000136002 tier1 - - 84 0 0.00 36 18 33.33 47 0 0.00 9 8 47.06 IGFN1 0 genome.wustl.edu 37 1 201190739 201190739 + Missense_Mutation SNP G G A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 1 201190739 201190739 G A SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.10066 p.V3356M 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 tier1 - - 52 0 0.00 8 30 76.92 50 0 0.00 4 22 84.62 SREBF1 0 genome.wustl.edu 37 17 17719281 17719281 + Missense_Mutation SNP G G T TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 17 17719281 17719281 G T SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known missense c.2366 p.A789D 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 tier1 - - 59 0 0.00 25 10 28.57 26 0 0.00 8 5 38.46 CD84 0 genome.wustl.edu 37 1 160549203 160549203 + Silent SNP A A G TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 1 160549203 160549203 A G SNP CD84 ENST00000534968 human ensembl 74_37 -1 known silent c.25 p.L9 0.999 NULL pfscan_Ig-like_dom - no_errors CD84 HGNC ENSG00000066294 tier1 - - 71 0 0.00 18 7 28.00 207 0 0.00 101 8 7.34 ACTR5 0 genome.wustl.edu 37 20 37380900 37380900 + Missense_Mutation SNP G G C TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 20 37380900 37380900 G C SNP ACTR5 ENST00000243903 human ensembl 74_37 +1 known missense c.732 p.E244D 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR5 HGNC ENSG00000101442 tier1 - - 71 0 0.00 41 7 14.58 84 0 0.00 67 4 5.63 PAPOLG 0 genome.wustl.edu 37 2 60997608 60997608 + Missense_Mutation SNP T T A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 2 60997608 60997608 T A SNP PAPOLG ENST00000238714 human ensembl 74_37 +1 known missense c.454 p.F152I 1.000 pfam_PolA_pol_cen_dom,pfam_Nucleotidyltransferase,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_R-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLG HGNC ENSG00000115421 tier1 - - 101 0 0.00 45 16 26.23 314 2 0.63 107 41 27.70 INPP5B 0 genome.wustl.edu 37 1 38411475 38411476 + Frame_Shift_Ins INS - - A TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 1 38411475 38411476 - A INS INPP5B ENST00000373023 human ensembl 74_37 -1 known frame_shift_ins c.105_104 p.L36fs 1.000:1.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors INPP5B HGNC ENSG00000204084 tier1 49 0 0.00 16 2 11.11 21 0 0.00 4 0 0.00 BCR 0 genome.wustl.edu 37 22 23658274 23658275 + R INS - - TTC TCGA-X6-A8C2-01A-11D-A36J-09 TCGA-X6-A8C2-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c9802b37-e213-4a7a-afcd-5822502fb968 18d5c618-c91c-4714-9683-ec3098cb28bd 22 23658274 23658275 - TTC INS BCR ENST00000436990 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors BCR HGNC ENSG00000186716 tier1 8 0 0.00 7 2 22.22 0 0 0.00 0 0 0.00