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 ACTL9 0 genome.wustl.edu 37 19 8807881 8807881 + Missense_Mutation SNP G G A TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 19 8807881 8807881 G A SNP ACTL9 ENST00000324436 human ensembl 74_37 -1 known missense c.1171 p.R391C 0.994 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL9 HGNC ENSG00000181786 tier1 - - 52 0 0.00 35 19 35.19 33 0 0.00 31 30 49.18 ZNF430 0 genome.wustl.edu 37 19 21216935 21216935 + Missense_Mutation SNP G G C TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 19 21216935 21216935 G C SNP ZNF430 ENST00000261560 human ensembl 74_37 +1 known missense c.267 p.E89D 0.225 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF430 HGNC ENSG00000118620 tier1 - - 70 0 0.00 31 23 42.59 42 0 0.00 27 20 42.55 C4orf22 0 genome.wustl.edu 37 4 81504291 81504291 + Missense_Mutation SNP C C T TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 4 81504291 81504291 C T SNP C4orf22 ENST00000508675 human ensembl 74_37 +1 known missense c.287 p.T96M 1.000 NULL NULL - no_errors C4orf22 HGNC ENSG00000197826 tier1 rs142731425 GMAF=0.0005 44 0 0.00 6 11 61.11 103 0 0.00 37 40 51.95 CCDC22 0 genome.wustl.edu 37 X 49106184 49106184 + Missense_Mutation SNP C C A TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 X 49106184 49106184 C A SNP CCDC22 ENST00000376227 human ensembl 74_37 +1 known missense c.1768 p.Q590K 1.000 pfam_DUF812 pfam_DUF812 - no_errors CCDC22 HGNC ENSG00000101997 tier1 - - 81 0 0.00 49 31 38.75 17 0 0.00 13 4 23.53 ANGEL2 0 genome.wustl.edu 37 1 213168525 213168525 + Missense_Mutation SNP A A G TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 1 213168525 213168525 A G SNP ANGEL2 ENST00000366962 human ensembl 74_37 -1 known missense c.1493 p.V498A 0.015 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors ANGEL2 HGNC ENSG00000174606 tier1 - - 29 0 0.00 29 12 29.27 129 0 0.00 103 51 33.12 FXR2 0 genome.wustl.edu 37 17 7496167 7496167 + Missense_Mutation SNP G G A TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 17 7496167 7496167 G A SNP FXR2 ENST00000250113 human ensembl 74_37 -1 known missense c.1574 p.S525F 0.997 pfam_Frag_X_MRP_fam pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR2 HGNC ENSG00000129245 tier1 - - 22 0 0.00 10 32 76.19 58 0 0.00 12 36 75.00 PARL 0 genome.wustl.edu 37 3 183551567 183551567 + Missense_Mutation SNP G G A TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 3 183551567 183551567 G A SNP PARL ENST00000317096 human ensembl 74_37 -1 known missense c.875 p.P292L 1.000 pfam_Peptidase_S54_rhomboid_dom pfam_Peptidase_S54_rhomboid_dom - no_errors PARL HGNC ENSG00000175193 tier1 - - 30 0 0.00 12 5 29.41 73 0 0.00 37 28 43.08 ABCB10 0 genome.wustl.edu 37 1 229667402 229667402 + Silent SNP C C T TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 1 229667402 229667402 C T SNP ABCB10 ENST00000344517 human ensembl 74_37 -1 known silent c.1416 p.E472 0.996 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB10 HGNC ENSG00000135776 tier1 - - 55 0 0.00 35 23 39.66 45 0 0.00 32 12 27.27 TRPV6 0 genome.wustl.edu 37 7 142571440 142571440 + Missense_Mutation SNP G G T TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 7 142571440 142571440 G T SNP TRPV6 ENST00000359396 human ensembl 74_37 -1 known missense c.1549 p.P517T 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 tier1 - - 26 0 0.00 15 14 48.28 91 0 0.00 59 46 43.81 MYO1E 0 genome.wustl.edu 37 15 59470648 59470648 + Missense_Mutation SNP C C A TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 15 59470648 59470648 C A SNP MYO1E ENST00000288235 human ensembl 74_37 -1 known missense c.1993 p.D665Y 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,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1E HGNC ENSG00000157483 tier1 - - 53 0 0.00 44 18 29.03 64 0 0.00 60 34 36.17 ENSG00000252677 0 genome.wustl.edu 37 18 19292022 19292022 + R SNP A A C TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 18 19292022 19292022 A C SNP ENSG00000252677 ENST00000516868 human ensembl 74_37 -1 novel rna NULL NULL 0.991 - - - no_errors SNORA81 RFAM ENSG00000252677 tier1 - - 32 0 0.00 16 9 36.00 106 0 0.00 82 47 36.43 PYGM 0 genome.wustl.edu 37 11 64518806 64518806 + Missense_Mutation SNP C C T TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 11 64518806 64518806 C T SNP PYGM ENST00000164139 human ensembl 74_37 -1 known missense c.1960 p.A654T 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 tier1 - - 23 0 0.00 12 10 45.45 100 0 0.00 28 31 52.54 NRP2 0 genome.wustl.edu 37 2 206588537 206588537 + Silent SNP G G T TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 2 206588537 206588537 G T SNP NRP2 ENST00000360409 human ensembl 74_37 +1 known silent c.693 p.G231 0.962 pirsf_Neuropilin,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 tier1 - - 60 0 0.00 25 11 30.56 134 0 0.00 69 58 45.67 IL2RG 0 genome.wustl.edu 37 X 70328508 70328508 + Missense_Mutation SNP G G C TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 X 70328508 70328508 G C SNP IL2RG ENST00000374202 human ensembl 74_37 -1 known missense c.795 p.I265M 0.918 NULL pfam_IL-6_rcpt_alpha-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RG HGNC ENSG00000147168 tier1 - - 20 0 0.00 17 9 34.62 152 0 0.00 98 52 34.44 PAPOLB 0 genome.wustl.edu 37 7 4901098 4901098 + Missense_Mutation SNP A A G TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 7 4901098 4901098 A G SNP PAPOLB ENST00000404991 human ensembl 74_37 -1 known missense c.341 p.I114T 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 PAPOLB HGNC ENSG00000218823 tier1 - - 35 0 0.00 10 5 33.33 96 0 0.00 52 43 45.26 ATRX 0 genome.wustl.edu 37 X 76939577 76939577 + Nonsense_Mutation SNP G G A TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 X 76939577 76939577 G A SNP ATRX ENST00000373344 human ensembl 74_37 -1 known nonsense c.1171 p.Q391* 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 - - 51 0 0.00 16 12 42.86 155 0 0.00 51 60 54.05 INTS5 0 genome.wustl.edu 37 11 62415487 62415487 + Silent SNP G G A TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 11 62415487 62415487 G A SNP INTS5 ENST00000330574 human ensembl 74_37 -1 known silent c.2065 p.L689 0.999 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 tier1 - - 40 0 0.00 26 8 23.53 64 0 0.00 38 20 34.48 XKR4 0 genome.wustl.edu 37 8 56436473 56436473 + Missense_Mutation SNP G G A TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 8 56436473 56436473 G A SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.1640 p.R547Q 1.000 NULL pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 tier1 - - 44 0 0.00 25 9 26.47 44 0 0.00 37 15 28.85 PEX5L 0 genome.wustl.edu 37 3 179525571 179525571 + Missense_Mutation SNP G G A TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 3 179525571 179525571 G A SNP PEX5L ENST00000467460 human ensembl 74_37 -1 known missense c.1567 p.R523C 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 tier1 - - 27 0 0.00 29 7 19.44 38 0 0.00 44 9 16.98 PPP2R3A 0 genome.wustl.edu 37 3 135806749 135806749 + Missense_Mutation SNP G G T TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 3 135806749 135806749 G T SNP PPP2R3A ENST00000264977 human ensembl 74_37 +1 known missense c.2813 p.R938M 1.000 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 tier1 - - 46 0 0.00 21 17 44.74 97 0 0.00 63 41 39.42 C2orf74 0 genome.wustl.edu 37 2 61391639 61391639 + Nonsense_Mutation SNP C C T TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 2 61391639 61391639 C T SNP C2orf74 ENST00000432605 human ensembl 74_37 +1 known nonsense c.562 p.R188* 0.001 NULL NULL - no_errors C2orf74 HGNC ENSG00000237651 tier1 - - 39 0 0.00 21 7 25.00 124 0 0.00 105 55 34.38 FANCB 0 genome.wustl.edu 37 X 14862776 14862776 + Missense_Mutation SNP T T A TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 X 14862776 14862776 T A SNP FANCB ENST00000324138 human ensembl 74_37 -1 known missense c.2014 p.M672L 0.000 NULL NULL - no_errors FANCB HGNC ENSG00000181544 tier1 - - 64 0 0.00 36 14 28.00 97 0 0.00 76 31 28.97 MTHFSD 0 genome.wustl.edu 37 16 86575760 86575760 + Missense_Mutation SNP T T A TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 16 86575760 86575760 T A SNP MTHFSD ENST00000360900 human ensembl 74_37 -1 known missense c.502 p.M168L 0.994 pfam_FTHF_cligase pfam_FTHF_cligase,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MTHFSD HGNC ENSG00000103248 tier1 - - 15 0 0.00 8 10 55.56 37 0 0.00 21 18 46.15 TPTE2P5 0 genome.wustl.edu 37 13 41429945 41429945 + R SNP C C A TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 13 41429945 41429945 C A SNP TPTE2P5 ENST00000379515 human ensembl 74_37 -1 known rna NULL NULL 0.334 - - - no_errors TPTE2P5 HGNC ENSG00000168852 tier1 - - 53 0 0.00 80 35 30.43 94 0 0.00 161 75 31.65 SND1 0 genome.wustl.edu 37 7 127721533 127721533 + Missense_Mutation SNP A A C TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 7 127721533 127721533 A C SNP SND1 ENST00000354725 human ensembl 74_37 +1 known missense c.2090 p.Y697S 0.997 pfam_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 tier1 - - 32 0 0.00 15 10 40.00 64 0 0.00 47 24 33.80 SERPINF2 0 genome.wustl.edu 37 17 1657814 1657814 + Missense_Mutation SNP G G A TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 17 1657814 1657814 G A SNP SERPINF2 ENST00000324015 human ensembl 74_37 +1 known missense c.1462 p.G488S 0.000 NULL pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINF2 HGNC ENSG00000167711 tier1 - - 18 0 0.00 2 11 84.62 105 1 0.93 25 60 70.59 CRAT 0 genome.wustl.edu 37 9 131871486 131871486 + Missense_Mutation SNP T T A TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 9 131871486 131871486 T A SNP CRAT ENST00000441796 human ensembl 74_37 -1 known missense c.98 p.H33L 0.001 NULL NULL - no_errors CRAT HGNC ENSG00000095321 tier1 - - 17 0 0.00 24 10 29.41 108 0 0.00 77 38 32.76 IGDCC3 0 genome.wustl.edu 37 15 65628224 65628224 + Silent SNP G G A TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 15 65628224 65628224 G A SNP IGDCC3 ENST00000327987 human ensembl 74_37 -1 known silent c.480 p.C160 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC3 HGNC ENSG00000174498 tier1 - - 33 0 0.00 19 12 38.71 104 0 0.00 57 26 31.33 TMTC3 0 genome.wustl.edu 37 12 88589095 88589095 + Frame_Shift_Del DEL A A - TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 12 88589095 88589095 A - DEL TMTC3 ENST00000266712 human ensembl 74_37 +1 known frame_shift_del c.2414 p.E805fs 1.000 NULL pfam_TPR_2,pfam_TPR_1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC ENSG00000139324 tier1 33 0 0.00 15 4 21.05 57 0 0.00 59 9 13.24 TNXB 0 genome.wustl.edu 37 6 32023775 32023775 + Missense_Mutation SNP C C T TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 6 32023775 32023775 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.8320 p.D2774N 0.925 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 55 0 0.00 42 67 61.47 19 0 0.00 5 2 28.57 CTPS2 0 genome.wustl.edu 37 X 16609019 16609020 + R INS - - A TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 X 16609019 16609020 - A INS CTPS2 ENST00000483053 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors CTPS2 HGNC ENSG00000047230 tier1 25 0 0.00 22 3 12.00 135 1 0.74 121 9 6.92 HSPG2 0 genome.wustl.edu 37 1 22149775 22149775 + R SNP G G A TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 1 22149775 22149775 G A SNP HSPG2 ENST00000486901 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors HSPG2 HGNC ENSG00000142798 tier1 - - 26 0 0.00 38 5 11.63 8 0 0.00 6 0 0.00 KRTAP5-5 0 genome.wustl.edu 37 11 1651597 1651597 + Missense_Mutation SNP C C T TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 11 1651597 1651597 C T SNP KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known missense c.527 p.S176F 0.192 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 tier1 - - 116 0 0.00 95 22 18.80 5 0 0.00 3 1 25.00 SKIDA1 0 genome.wustl.edu 37 10 21805720 21805720 + Silent SNP A A G TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 10 21805720 21805720 A G SNP SKIDA1 ENST00000449193 human ensembl 74_37 -1 known silent c.1032 p.H344 0.972 NULL pfam_Transform_Ski,superfamily_D-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 tier1 - - 32 0 0.00 63 6 8.70 10 0 0.00 7 0 0.00 CENPB 0 genome.wustl.edu 37 20 3767122 3767184 + In_Frame_Del DEL GGGGCCCATCCCGGCGCGCCCCCCGCCCCGGGGCCCGGCGCCGCCGCCGCCGCCCCGGGGCGG GGGGCCCATCCCGGCGCGCCCCCCGCCCCGGGGCCCGGCGCCGCCGCCGCCGCCCCGGGGCGG - TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 GGGGCCCATCCCGGCGCGCCCCCCGCCCCGGGGCCCGGCGCCGCCGCCGCCGCCCCGGGGCGG GGGGCCCATCCCGGCGCGCCCCCCGCCCCGGGGCCCGGCGCCGCCGCCGCCGCCCCGGGGCGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 20 3767122 3767184 GGGGCCCATCCCGGCGCGCCCCCCGCCCCGGGGCCCGGCGCCGCCGCCGCCGCCCCGGGGCGG - DEL CENPB ENST00000379751 human ensembl 74_37 -1 known in_frame_del c.9_1 p.MGP1in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 superfamily_Homeodomain-like,pfscan_HTH_Psq pfam_Centromere_CenpB_dimerisation,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,pfam_HTH_CenpB_D-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_D-bd_dom,pfscan_HTH_Psq - no_errors CENPB HGNC ENSG00000125817 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 DNM1P34 0 genome.wustl.edu 37 15 75592881 75592908 + R DEL CGGGCTTCCCTCTTCTCTGGTCACCCTC CGGGCTTCCCTCTTCTCTGGTCACCCTC - TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 CGGGCTTCCCTCTTCTCTGGTCACCCTC CGGGCTTCCCTCTTCTCTGGTCACCCTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 15 75592881 75592908 CGGGCTTCCCTCTTCTCTGGTCACCCTC - DEL DNM1P34 ENST00000567292 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001:0.002:0.003:0.016:0.019:0.542:0.707:0.754:0.765:0.759:0.735:0.645:0.577:0.391:0.379:0.371:0.364:0.334:0.225:0.038:0.019:0.014:0.015:0.015:0.021:0.029:0.030 - - - no_errors DNM1P34 HGNC ENSG00000260357 tier1 0 0 0.00 0 1 100.00 0 0 0.00 0 1 100.00 FAM120C 0 genome.wustl.edu 37 X 54209302 54209303 + In_Frame_Ins INS - - GGCGGC TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 X 54209302 54209303 - GGCGGC INS FAM120C ENST00000375180 human ensembl 74_37 -1 known in_frame_ins c.330_329 p.112in_frame_insPP 0.999:0.998 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 tier1 0 0 0.00 2 0 0.00 0 0 0.00 2 0 0.00 GOLGA8N 0 genome.wustl.edu 37 15 32890118 32890118 + Silent SNP A A G TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 15 32890118 32890118 A G SNP GOLGA8N ENST00000448387 human ensembl 74_37 +1 known silent c.426 p.K142 0.187 NULL NULL - no_errors GOLGA8N HGNC ENSG00000232653 tier1 - - 52 0 0.00 65 29 30.85 0 0 0.00 0 0 0.00 ID4 0 genome.wustl.edu 37 6 19838106 19838108 + In_Frame_Del DEL GCG GCG - TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 GCG GCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 6 19838106 19838108 GCG - DEL ID4 ENST00000378700 human ensembl 74_37 +1 known in_frame_del c.121_123 p.A44in_frame_del 0.988:0.989:0.984 superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_bHLH_dom,superfamily_bHLH_dom,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ID4 HGNC ENSG00000172201 tier1 13 0 0.00 22 4 15.38 0 0 0.00 0 0 0.00 MLC1 0 genome.wustl.edu 37 22 50502469 50502470 + In_Frame_Ins INS - - GCACCCCCACCCCACAGGCCACTCACCTCCCCG TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 22 50502469 50502470 - GCACCCCCACCCCACAGGCCACTCACCTCCCCG INS MLC1 ENST00000311597 human ensembl 74_37 -1 known in_frame_ins c.1053_1052 p.355in_frame_insSGLWGGGAGEV 0.000:0.000 NULL NULL - no_errors MLC1 HGNC ENSG00000100427 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 TBC1D10B 0 genome.wustl.edu 37 16 30381257 30381268 + In_Frame_Del DEL GCCGGGGCTGGG GCCGGGGCTGGG - TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 GCCGGGGCTGGG GCCGGGGCTGGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 16 30381257 30381268 GCCGGGGCTGGG - DEL TBC1D10B ENST00000409939 human ensembl 74_37 -1 known in_frame_del c.248_237 p.PAPA80in_frame_del 0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10B HGNC ENSG00000169221 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 KRTAP5-5 0 genome.wustl.edu 37 11 1651627 1651627 + Missense_Mutation SNP C C T TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 11 1651627 1651627 C T SNP KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known missense c.557 p.S186F 0.931 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 tier1 - - 101 0 0.00 102 10 8.93 2 0 0.00 5 2 28.57 TCP11 0 genome.wustl.edu 37 6 35109033 35109040 + R DEL GCGGCCTG GCGGCCTG - TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 GCGGCCTG GCGGCCTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 6 35109033 35109040 GCGGCCTG - DEL TCP11 ENST00000394696 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000:0.000:0.001:0.002:0.001:0.000:0.000 - - - no_errors TCP11 HGNC ENSG00000124678 tier1 0 0 0.00 0 2 100.00 0 0 0.00 0 2 100.00 P2RX2 0 genome.wustl.edu 37 12 133197922 133197922 + Silent SNP G G A TCGA-DX-A8BN-01A-11D-A37C-09 TCGA-DX-A8BN-11A-22D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0238c3ff-c720-4350-b0e8-5b4823f91075 87bd9e83-45b1-430d-b7ef-bb83264ebbb3 12 133197922 133197922 G A SNP P2RX2 ENST00000343948 human ensembl 74_37 +1 known silent c.987 p.V329 1.000 pfam_P2X_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX2 HGNC ENSG00000187848 tier1 - - 30 0 0.00 18 5 21.74 54 0 0.00 57 2 3.39