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 rsID rsID_ref_var_alleles CAF normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumor_var_reads tumor_vaf normal_ref_reads_val normal_var_reads_val normal_vaf_val tumor_ref_reads_val tumor_var_reads_val tumor_vaf_val ARHGAP6 0 genome.wustl.edu 37 X 11157087 11157087 + Missense_Mutation SNP G G A TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 X 11157087 11157087 G A SNP ARHGAP6 ENST00000337414 human ensembl 74_37 -1 known missense c.2821 p.R941C 0.002 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom 0 no_errors 0 0 0 20 0 0 26 3 10.34 24 0 0.00 23 7 23.33 ARMCX4 0 genome.wustl.edu 37 X 100747599 100747599 + Missense_Mutation SNP G G A TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 X 100747599 100747599 G A SNP ARMCX4 ENST00000423738 human ensembl 74_37 1 putative missense c.4023 p.M1341I 0 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo 0 no_errors 0 0 0 60 0 0 74 10 11.9 127 0 0.00 129 13 9.15 HAUS7 0 genome.wustl.edu 37 X 152722559 152722559 + RNA SNP G G A TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 X 152722559 152722559 G A SNP HAUS7 ENST00000464993 human ensembl 74_37 -1 known rna NULL NULL 0 0 0 0 no_errors rs377562227 G->A 0 45 1 2.17 56 8 12.5 198 0 0.00 180 19 9.55 MECP2 0 genome.wustl.edu 37 X 153296828 153296828 + Missense_Mutation SNP C C T TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 X 153296828 153296828 C T SNP MECP2 ENST00000303391 human ensembl 74_37 -1 known missense c.451 p.D151N 1 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd 0 no_errors 0 0 0 14 0 0 29 6 17.14 210 0 0.00 186 21 10.10 TAS1R1 0 genome.wustl.edu 37 1 6638782 6638782 + Missense_Mutation SNP G G A TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 1 6638782 6638782 G A SNP TAS1R1 ENST00000333172 human ensembl 74_37 1 known missense c.1664 p.R555H 0.886 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 0 no_errors 0 0 0 24 0 0 26 10 27.78 93 0 0.00 61 26 29.21 TRIM46 0 genome.wustl.edu 37 1 155149536 155149536 + Silent SNP C C G TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 1 155149536 155149536 C G SNP TRIM46 ENST00000334634 human ensembl 74_37 1 known silent c.798 p.A266 1 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box 0 no_errors 0 0 0 42 0 0 45 16 26.23 213 0 0.00 243 63 20.52 ASTN1 0 genome.wustl.edu 37 1 176992587 176992587 + Missense_Mutation SNP G G A TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 1 176992587 176992587 G A SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.1391 p.A464V 1 smart_EG-like_dom superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 0 no_errors 0 0 0 25 0 0 36 6 14.29 70 0 0.00 93 13 12.26 SWT1 0 genome.wustl.edu 37 1 185191111 185191111 + Missense_Mutation SNP G G A TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 1 185191111 185191111 G A SNP SWT1 ENST00000367500 human ensembl 74_37 1 known missense c.2252 p.R751K 0.997 NULL smart_PIN_dom 0 no_errors 0 0 0 47 0 0 69 11 13.75 265 0 0.00 382 49 11.32 OBSCN 0 genome.wustl.edu 37 1 228466566 228466566 + Silent SNP C C T TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 1 228466566 228466566 C T SNP OBSCN ENST00000422127 human ensembl 74_37 1 known silent c.7036 p.L2346 1 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain 0 no_errors 0 0 0 25 0 0 25 5 16.67 79 1 1.25 126 10 7.35 ATP6V1A 0 genome.wustl.edu 37 3 113497642 113497642 + Silent SNP A A G TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 3 113497642 113497642 A G SNP ATP6V1A ENST00000273398 human ensembl 74_37 1 known silent c.42 p.K14 0.939 superfamily_ATPase_F1_a/bsu_N pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_V1-cplx_asu 0 no_errors 0 0 0 196 0 0 147 61 29.33 238 0 0.00 130 58 30.85 CCDC158 0 genome.wustl.edu 37 4 77317601 77317601 + Missense_Mutation SNP T T C TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 4 77317601 77317601 T C SNP CCDC158 ENST00000388914 human ensembl 74_37 -1 known missense c.109 p.T37A 0.961 NULL superfamily_Prefoldin 0 no_errors 0 0 0 95 0 0 117 9 7.14 269 0 0.00 203 38 15.77 TRMT10A 0 genome.wustl.edu 37 4 100478534 100478534 + Missense_Mutation SNP C C T TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 4 100478534 100478534 C T SNP TRMT10A ENST00000273962 human ensembl 74_37 -1 known missense c.388 p.A130T 1 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 0 no_errors rs149241895 C->T 0.9996,0.0003994 58 0 0 53 6 10.17 226 0 0.00 169 38 18.36 RAPGEF6 0 genome.wustl.edu 37 5 130815362 130815362 + Missense_Mutation SNP C C A TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 5 130815362 130815362 C A SNP RAPGEF6 ENST00000509018 human ensembl 74_37 -1 known missense c.1925 p.R642L 1 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N 0 no_errors 0 0 0 79 0 0 80 15 15.79 273 0 0.00 248 32 11.43 PCDHGA4 0 genome.wustl.edu 37 5 140736822 140736822 + Silent SNP C C T TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 5 140736822 140736822 C T SNP PCDHGA4 ENST00000571252 human ensembl 74_37 1 known silent c.2055 p.D685 0 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin 0 no_errors 0 0 0 30 0 0 44 6 12 60 0 0.00 45 7 13.46 SH3PXD2B 0 genome.wustl.edu 37 5 171766742 171766742 + Missense_Mutation SNP T T G TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 5 171766742 171766742 T G SNP SH3PXD2B ENST00000311601 human ensembl 74_37 -1 known missense c.1367 p.E456A 0.997 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain 0 no_errors 0 0 0 25 0 0 32 3 8.57 84 0 0.00 74 9 10.84 VPS13B 0 genome.wustl.edu 37 8 100115327 100115327 + Missense_Mutation SNP C C T TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 8 100115327 100115327 C T SNP VPS13B ENST00000358544 human ensembl 74_37 1 known missense c.559 p.R187C 1 NULL pfam_Autophagy-rel_C 0 no_errors rs367561688 C->T 0 34 0 0 66 10 13.16 227 1 0.44 255 33 11.42 CER1 0 genome.wustl.edu 37 9 14720321 14720321 + Missense_Mutation SNP C C T TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 9 14720321 14720321 C T SNP CER1 ENST00000380911 human ensembl 74_37 -1 known missense c.571 p.G191R 0.729 pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Cerberus,pfscan_Cys_knot_C pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Cerberus,pfscan_Cys_knot_C 0 no_errors 0 0 0 42 0 0 47 7 12.96 223 0 0.00 192 32 14.29 IGF2 0 genome.wustl.edu 37 11 2154871 2154871 + Missense_Mutation SNP C C T TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 11 2154871 2154871 C T SNP IGF2 ENST00000434045 human ensembl 74_37 -1 known missense c.350 p.R117H 0.035 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2 pfam_IGF2_C,pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2,prints_Insulin_family,prints_Insulin-like_growth_factor 0 no_errors 0 0 0 37 0 0 34 7 17.07 107 0 0.00 93 10 9.71 BSCL2 0 genome.wustl.edu 37 11 62462143 62462143 + Missense_Mutation SNP A A C TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 11 62462143 62462143 A C SNP BSCL2 ENST00000360796 human ensembl 74_37 -1 known missense c.527 p.L176R 1 pfam_Adipose-reg_protein_Seipin pfam_Adipose-reg_protein_Seipin 0 no_errors 0 0 0 28 0 0 23 13 36.11 203 0 0.00 103 68 39.31 PLA2G16 0 genome.wustl.edu 37 11 63365595 63365595 + Missense_Mutation SNP G G A TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 11 63365595 63365595 G A SNP PLA2G16 ENST00000323646 human ensembl 74_37 -1 known missense c.56 p.P19L 0.63 NULL pfam_LRAT-like_dom 0 no_errors 0 0 0 36 0 0 34 5 12.82 200 0 0.00 180 33 15.42 COX8A 0 genome.wustl.edu 37 11 63742168 63742168 + Missense_Mutation SNP C C T TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 11 63742168 63742168 C T SNP COX8A ENST00000314133 human ensembl 74_37 1 known missense c.16 p.P6S 0.053 NULL pfam_Cyt_c_oxidase_su8,superfamily_Cyt_c_oxidase_su8 0 no_errors 0 0 0 43 0 0 49 10 16.95 113 0 0.00 83 13 13.54 TMEM225 0 genome.wustl.edu 37 11 123755310 123755310 + Missense_Mutation SNP G G A TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 11 123755310 123755310 G A SNP TMEM225 ENST00000375026 human ensembl 74_37 -1 known missense c.215 p.S72L 0 NULL NULL 0 no_errors 0 0 0 49 0 0 42 24 36.36 228 2 0.87 133 57 30.00 DRAM1 0 genome.wustl.edu 37 12 102302108 102302108 + Missense_Mutation SNP A A T TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 12 102302108 102302108 A T SNP DRAM1 ENST00000258534 human ensembl 74_37 1 known missense c.487 p.I163F 1 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 0 no_errors 0 0 0 34 0 0 35 7 16.67 178 0 0.00 164 34 17.09 SIPA1L1 0 genome.wustl.edu 37 14 72117205 72117205 + Nonsense_Mutation SNP C C T TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 14 72117205 72117205 C T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 1 known nonsense c.1972 p.R658* 1 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom 0 no_errors 0 0 0 28 0 0 43 5 10.42 206 0 0.00 181 9 4.74 ALOX12 0 genome.wustl.edu 37 17 6909880 6909880 + Nonsense_Mutation SNP G G A TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 17 6909880 6909880 G A SNP ALOX12 ENST00000251535 human ensembl 74_37 1 known nonsense c.1494 p.W498* 1 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C 0 no_errors 0 0 0 37 0 0 26 5 16.13 97 0 0.00 85 9 9.47 CHD3 0 genome.wustl.edu 37 17 7810746 7810746 + Missense_Mutation SNP C C T TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 17 7810746 7810746 C T SNP CHD3 ENST00000330494 human ensembl 74_37 1 known missense c.4864 p.P1622S 0.048 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow 0 no_errors 0 0 0 29 0 0 31 14 31.11 128 0 0.00 125 50 28.57 SUPT6H 0 genome.wustl.edu 37 17 27004811 27004811 + Missense_Mutation SNP G G C TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 17 27004811 27004811 G C SNP SUPT6H ENST00000314616 human ensembl 74_37 1 known missense c.976 p.A326P 1 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom 0 no_errors 0 0 0 31 0 0 39 9 18.75 327 0 0.00 244 39 13.73 ZNF614 0 genome.wustl.edu 37 19 52521687 52521687 + Missense_Mutation SNP C C A TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 19 52521687 52521687 C A SNP ZNF614 ENST00000270649 human ensembl 74_37 -1 known missense c.76 p.D26Y 0.568 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box 0 no_errors 0 0 0 82 0 0 81 10 10.99 130 0 0.00 86 18 17.31 SMARCAD1 0 genome.wustl.edu 37 4 95200079 95200080 + Frame_Shift_Ins INS - - A TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 4 95200079 95200080 0 A INS SMARCAD1 ENST00000359052 human ensembl 74_37 1 known frame_shift_ins c.2302_2303 p.N770fs 1.000:1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C 0 no_errors 0 0 0 49 0 0 74 16 17.78 243 0 0.00 174 34 16.35 DHX37 0 genome.wustl.edu 37 12 125465270 125465272 + In_Frame_Del DEL CTC CTC - TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 CTC CTC CTC - CTC CTC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 12 125465270 125465272 CTC 0 DEL DHX37 ENST00000308736 human ensembl 74_37 -1 known in_frame_del c.504_502 p.E168in_frame_del 0.904:0.904:0.905 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C 0 no_errors rs376470858 ACTC->A 0 38 0 0 43 5 10.42 41 0 0.00 23 3 11.54 TNXB 0 genome.wustl.edu 37 6 32029977 32029977 + Silent SNP G G A TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 6 32029977 32029977 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.7125 p.H2375 0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 0 no_errors rs372616750 G->A 0.9998,0.0001997 36 0 0 24 6 20 16 0 0.00 7 0 0.00 MAML3 0 genome.wustl.edu 37 4 140810639 140810641 + In_Frame_Del DEL GCT GCT - TCGA-XU-A936-01A-11D-A428-09 TCGA-XU-A936-10A-01D-A42B-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b6a3a21-3fe2-47f6-99ea-9aba5bbd51b0 d40c76f9-21b5-4dcc-a0c5-ce5fa7d0a081 4 140810639 140810641 GCT 0 DEL MAML3 ENST00000509479 human ensembl 74_37 -1 known in_frame_del c.1951_1949 p.Q650in_frame_del 0.196:0.001:0.000 NULL pfam_Neuroggenic_mastermind-like_N 0 no_errors 0 0 0 27 0 0 23 5 17.86 29 0 0.00 10 0 0.00