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 ZNF782 0 genome.wustl.edu 37 9 99607255 99607255 + Missense_Mutation SNP T T C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 9 99607255 99607255 T C SNP ZNF782 ENST00000481138 human ensembl 74_37 -1 known missense c.59 p.E20G 0.996 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF782 HGNC ENSG00000196597 tier1 - - 94 0 0.00 101 65 39.16 16 0 0.00 13 8 38.10 OSBPL8 0 genome.wustl.edu 37 12 76786379 76786379 + Missense_Mutation SNP T T G TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 12 76786379 76786379 T G SNP OSBPL8 ENST00000261183 human ensembl 74_37 -1 known missense c.911 p.H304P 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL8 HGNC ENSG00000091039 tier1 - - 37 0 0.00 23 12 34.29 111 0 0.00 47 15 24.19 MCM10 0 genome.wustl.edu 37 10 13237231 13237231 + Missense_Mutation SNP C C G TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 10 13237231 13237231 C G SNP MCM10 ENST00000484800 human ensembl 74_37 +1 known missense c.1939 p.P647A 1.000 pfam_Rep_factor_Mcm10 pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 tier1 - - 16 0 0.00 7 6 46.15 45 0 0.00 38 28 41.79 ANXA1 0 genome.wustl.edu 37 9 75775261 75775261 + Missense_Mutation SNP T T A TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 9 75775261 75775261 T A SNP ANXA1 ENST00000257497 human ensembl 74_37 +1 known missense c.353 p.F118Y 1.000 pfam_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinI - no_errors ANXA1 HGNC ENSG00000135046 tier1 - - 44 0 0.00 49 22 30.99 101 0 0.00 80 57 41.61 TMEM132D 0 genome.wustl.edu 37 12 130184367 130184367 + Missense_Mutation SNP C C T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 12 130184367 130184367 C T SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.956 p.R319H 0.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 tier1 - - 37 0 0.00 20 5 20.00 168 0 0.00 94 43 31.39 PKHD1L1 0 genome.wustl.edu 37 8 110437395 110437395 + Missense_Mutation SNP A A T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 8 110437395 110437395 A T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.2779 p.I927F 0.998 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 26 0 0.00 41 10 19.61 74 0 0.00 66 18 21.43 LOC101927911 0 genome.wustl.edu 37 17 2865946 2865946 + R SNP T T A TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 17 2865946 2865946 T A SNP LOC101927911 ENST00000574885 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors CTD-3060P21.1 Clone_based_vega_gene ENSG00000262884 tier1 - - 154 1 0.65 99 22 18.18 83 0 0.00 100 25 20.00 CGN 0 genome.wustl.edu 37 1 151497206 151497206 + Silent SNP A A G TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 1 151497206 151497206 A G SNP CGN ENST00000271636 human ensembl 74_37 +1 known silent c.1458 p.V486 0.957 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 tier1 - - 56 0 0.00 43 7 14.00 36 0 0.00 44 8 15.38 DUSP27 0 genome.wustl.edu 37 1 167095964 167095964 + Silent SNP C C T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 1 167095964 167095964 C T SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known silent c.1596 p.N532 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 tier1 - - 32 0 0.00 20 17 45.95 71 0 0.00 66 46 41.07 LRRC37A6P 0 genome.wustl.edu 37 10 27539404 27539404 + R SNP G G C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 10 27539404 27539404 G C SNP LRRC37A6P ENST00000284414 human ensembl 74_37 -1 known rna NULL NULL 0.283 - - - no_errors LRRC37A6P HGNC ENSG00000230445 tier1 - - 70 0 0.00 45 19 29.69 37 0 0.00 39 19 32.76 SPATA31C1 0 genome.wustl.edu 37 9 90535818 90535818 + R SNP G G C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 9 90535818 90535818 G C SNP SPATA31C1 ENST00000602681 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SPATA31C1 HGNC ENSG00000230246 tier1 - - 260 0 0.00 147 106 41.90 22 0 0.00 19 27 58.70 LOC100132215 0 genome.wustl.edu 37 2 63272396 63272396 + R SNP T T G TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 2 63272396 63272396 T G SNP LOC100132215 ENST00000412297 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC009501.4 Clone_based_vega_gene ENSG00000231609 tier1 - - 32 0 0.00 10 29 74.36 37 0 0.00 15 22 59.46 BRD3 0 genome.wustl.edu 37 9 136905253 136905253 + Missense_Mutation SNP C C T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 9 136905253 136905253 C T SNP BRD3 ENST00000303407 human ensembl 74_37 -1 known missense c.1546 p.E516K 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 tier1 rs62639321 - 77 0 0.00 19 19 50.00 50 0 0.00 23 18 43.90 EGR2 0 genome.wustl.edu 37 10 64573803 64573803 + Missense_Mutation SNP A A C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 10 64573803 64573803 A C SNP EGR2 ENST00000242480 human ensembl 74_37 -1 known missense c.595 p.S199A 0.997 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR2 HGNC ENSG00000122877 tier1 - - 82 0 0.00 48 11 18.64 70 0 0.00 36 28 43.75 CDK3 0 genome.wustl.edu 37 17 73998102 73998102 + Splice_Site SNP G G A TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 17 73998102 73998102 G A SNP CDK3 ENST00000425876 human ensembl 74_37 +1 known splice_site c.195-1 e3-1 1.000 - - - no_errors CDK3 HGNC ENSG00000250506 tier1 - - 89 0 0.00 68 22 24.44 87 0 0.00 120 16 11.68 KIAA1549 0 genome.wustl.edu 37 7 138602589 138602589 + Missense_Mutation SNP C C A TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 7 138602589 138602589 C A SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.1783 p.V595F 0.001 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 tier1 - - 26 0 0.00 4 9 69.23 134 0 0.00 57 46 44.66 C17orf47 0 genome.wustl.edu 37 17 56620335 56620335 + Missense_Mutation SNP C C T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 17 56620335 56620335 C T SNP C17orf47 ENST00000321691 human ensembl 74_37 -1 known missense c.1213 p.E405K 0.353 NULL NULL - no_errors C17orf47 HGNC ENSG00000181013 tier1 - - 67 0 0.00 84 18 17.65 116 0 0.00 160 23 12.43 MCF2 0 genome.wustl.edu 37 X 138701798 138701798 + Missense_Mutation SNP G G A TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 X 138701798 138701798 G A SNP MCF2 ENST00000370578 human ensembl 74_37 -1 known missense c.1190 p.A397V 0.001 smart_Spectrin/alpha-actinin pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 tier1 - - 57 0 0.00 69 25 26.60 78 0 0.00 95 16 14.41 ADORA2A 0 genome.wustl.edu 37 22 24836570 24836570 + Missense_Mutation SNP G G C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 22 24836570 24836570 G C SNP ADORA2A ENST00000337539 human ensembl 74_37 +1 known missense c.352 p.G118R 0.298 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt - no_errors ADORA2A HGNC ENSG00000128271 tier1 - - 86 0 0.00 66 27 29.03 67 0 0.00 47 29 38.16 ANKRD36BP2 0 genome.wustl.edu 37 2 89104342 89104342 + R SNP A A C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 2 89104342 89104342 A C SNP ANKRD36BP2 ENST00000393515 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 tier1 - - 77 0 0.00 113 49 30.25 26 0 0.00 17 11 39.29 RYR2 0 genome.wustl.edu 37 1 237806668 237806668 + Silent SNP C C T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 1 237806668 237806668 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.7257 p.S2419 0.943 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 59 0 0.00 32 21 39.62 109 0 0.00 36 24 40.00 OR5T2 0 genome.wustl.edu 37 11 55999957 55999957 + Missense_Mutation SNP C C A TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 11 55999957 55999957 C A SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known missense c.705 p.Q235H 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 tier1 - - 76 0 0.00 70 40 36.36 22 0 0.00 26 14 35.00 ARHGAP32 0 genome.wustl.edu 37 11 128844161 128844161 + Missense_Mutation SNP C C G TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 11 128844161 128844161 C G SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known missense c.2889 p.E963D 0.996 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 tier1 - - 35 0 0.00 15 14 48.28 89 0 0.00 36 29 44.62 SPHKAP 0 genome.wustl.edu 37 2 228883262 228883262 + Missense_Mutation SNP T T C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 2 228883262 228883262 T C SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.2308 p.S770G 0.011 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 tier1 - - 51 0 0.00 41 13 24.07 95 1 1.04 47 32 40.51 STOML1 0 genome.wustl.edu 37 15 74280989 74280989 + Missense_Mutation SNP G G A TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 15 74280989 74280989 G A SNP STOML1 ENST00000316900 human ensembl 74_37 -1 known missense c.545 p.P182L 0.328 pfam_Band_7,smart_Band_7,prints_Stomatin pfam_Band_7,pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom,smart_Band_7,prints_Stomatin - no_errors STOML1 HGNC ENSG00000067221 tier1 - - 66 0 0.00 34 13 27.66 53 0 0.00 31 14 31.11 ANO4 0 genome.wustl.edu 37 12 101433740 101433740 + Missense_Mutation SNP A A T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 12 101433740 101433740 A T SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known missense c.905 p.Y302F 1.000 NULL pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 tier1 - - 34 0 0.00 25 9 26.47 98 0 0.00 73 38 33.93 ARID1B 0 genome.wustl.edu 37 6 157256633 157256633 + Nonsense_Mutation SNP C C T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 6 157256633 157256633 C T SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known nonsense c.1921 p.Q641* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_D-bd,superfamily_ARID/BRIGHT_D-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_D-bd,pfscan_ARID/BRIGHT_D-bd - no_errors ARID1B HGNC ENSG00000049618 tier1 - - 59 0 0.00 34 55 61.80 130 0 0.00 55 78 58.65 RANBP3 0 genome.wustl.edu 37 19 5918597 5918597 + Silent SNP G G C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 19 5918597 5918597 G C SNP RANBP3 ENST00000340578 human ensembl 74_37 -1 known silent c.1383 p.A461 0.010 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 tier1 - - 61 0 0.00 40 27 40.30 35 0 0.00 56 27 32.53 PAPPA 0 genome.wustl.edu 37 9 119124887 119124887 + Missense_Mutation SNP T T C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 9 119124887 119124887 T C SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.4364 p.V1455A 0.174 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 tier1 - - 26 0 0.00 29 27 48.21 98 0 0.00 72 66 47.83 C17orf47 0 genome.wustl.edu 37 17 56620182 56620182 + Missense_Mutation SNP C C G TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 17 56620182 56620182 C G SNP C17orf47 ENST00000321691 human ensembl 74_37 -1 known missense c.1366 p.D456H 0.528 NULL NULL - no_errors C17orf47 HGNC ENSG00000181013 tier1 - - 52 0 0.00 43 9 17.31 95 0 0.00 110 34 23.61 ODAM 0 genome.wustl.edu 37 4 71063870 71063870 + Missense_Mutation SNP G G T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 4 71063870 71063870 G T SNP ODAM ENST00000396094 human ensembl 74_37 +1 known missense c.371 p.S124I 0.001 NULL NULL - no_errors ODAM HGNC ENSG00000109205 tier1 - - 18 0 0.00 38 8 17.39 108 0 0.00 84 33 28.21 DJA4 0 genome.wustl.edu 37 15 78565508 78565508 + Missense_Mutation SNP C C G TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 15 78565508 78565508 C G SNP DJA4 ENST00000394855 human ensembl 74_37 +1 known missense c.472 p.L158V 0.995 pfam_HSP_DnaJ_Cys-rich_dom,superfamily_HSP40/DnaJ_pept-bd,pfscan_HSP_DnaJ_Cys-rich_dom pfam_DnaJ_domain,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DJA4 HGNC ENSG00000140403 tier1 - - 34 0 0.00 7 19 73.08 92 0 0.00 63 69 52.27 ZNF423 0 genome.wustl.edu 37 16 49670663 49670663 + Missense_Mutation SNP G G C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 16 49670663 49670663 G C SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.2400 p.I800M 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 tier1 - - 53 0 0.00 38 9 19.15 50 0 0.00 95 25 20.83 KLHL1 0 genome.wustl.edu 37 13 70371041 70371041 + Missense_Mutation SNP C C T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 13 70371041 70371041 C T SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known missense c.1468 p.G490R 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 tier1 - - 53 0 0.00 129 27 17.20 74 0 0.00 120 20 14.18 ALOX5 0 genome.wustl.edu 37 10 45939225 45939225 + Silent SNP C C A TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 10 45939225 45939225 C A SNP ALOX5 ENST00000374391 human ensembl 74_37 +1 known silent c.1623 p.T541 0.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom - no_errors ALOX5 HGNC ENSG00000012779 tier1 - - 75 0 0.00 32 24 42.86 31 0 0.00 16 9 36.00 PPP1R3A 0 genome.wustl.edu 37 7 113518694 113518694 + Missense_Mutation SNP T T C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 7 113518694 113518694 T C SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.2453 p.E818G 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 tier1 - - 68 0 0.00 55 16 22.54 99 0 0.00 70 38 35.19 LOC100132215 0 genome.wustl.edu 37 2 63272423 63272423 + R SNP C C T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 2 63272423 63272423 C T SNP LOC100132215 ENST00000412297 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC009501.4 Clone_based_vega_gene ENSG00000231609 tier1 - - 27 0 0.00 16 19 54.29 37 0 0.00 17 20 54.05 FAM47C 0 genome.wustl.edu 37 X 37028953 37028953 + Missense_Mutation SNP C C A TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 X 37028953 37028953 C A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.2470 p.L824I 0.018 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 - - 102 0 0.00 79 56 41.48 37 0 0.00 28 25 47.17 GNL3L 0 genome.wustl.edu 37 X 54578772 54578772 + Missense_Mutation SNP C C A TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 X 54578772 54578772 C A SNP GNL3L ENST00000336470 human ensembl 74_37 +1 known missense c.1229 p.P410H 1.000 NULL pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL3L HGNC ENSG00000130119 tier1 - - 58 0 0.00 86 22 20.37 71 0 0.00 68 32 32.00 PCMTD2 0 genome.wustl.edu 37 20 62896684 62896684 + Missense_Mutation SNP C C A TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 20 62896684 62896684 C A SNP PCMTD2 ENST00000308824 human ensembl 74_37 +1 known missense c.484 p.R162S 1.000 pfam_PCMT pfam_PCMT - no_errors PCMTD2 HGNC ENSG00000203880 tier1 - - 170 0 0.00 93 69 42.59 87 0 0.00 43 47 52.22 SP140 0 genome.wustl.edu 37 2 231112669 231112669 + Missense_Mutation SNP T T C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 2 231112669 231112669 T C SNP SP140 ENST00000392045 human ensembl 74_37 +1 known missense c.781 p.Y261H 0.000 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 tier1 - - 13 0 0.00 14 6 30.00 74 0 0.00 36 16 30.77 PSB 0 genome.wustl.edu 37 19 50839923 50839923 + R SNP C C T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 19 50839923 50839923 C T SNP PSB ENST00000527780 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PSB HGNC ENSG00000131401 tier1 - - 70 0 0.00 36 45 55.56 96 0 0.00 55 34 38.20 TFDP2 0 genome.wustl.edu 37 3 141713978 141713978 + Missense_Mutation SNP T T C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 3 141713978 141713978 T C SNP TFDP2 ENST00000489671 human ensembl 74_37 -1 known missense c.192 p.I64M 1.000 pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP2 HGNC ENSG00000114126 tier1 - - 44 0 0.00 81 14 14.74 59 0 0.00 83 20 19.42 ACSF2 0 genome.wustl.edu 37 17 48548432 48548432 + Missense_Mutation SNP A A C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 17 48548432 48548432 A C SNP ACSF2 ENST00000300441 human ensembl 74_37 +1 known missense c.1259 p.H420P 0.077 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ENSG00000167107 tier1 - - 49 0 0.00 39 7 15.22 57 0 0.00 67 16 19.28 PROKR2 0 genome.wustl.edu 37 20 5294713 5294713 + Silent SNP C C T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 20 5294713 5294713 C T SNP PROKR2 ENST00000217270 human ensembl 74_37 -1 known silent c.303 p.L101 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 tier1 - - 104 0 0.00 85 29 25.44 74 1 1.33 47 25 34.25 DMD 0 genome.wustl.edu 37 X 32663086 32663086 + Missense_Mutation SNP G G C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 X 32663086 32663086 G C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.1144 p.H382D 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 45 0 0.00 41 33 44.59 93 0 0.00 67 34 33.66 THEMIS 0 genome.wustl.edu 37 6 128176258 128176258 + Missense_Mutation SNP A A T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 6 128176258 128176258 A T SNP THEMIS ENST00000543064 human ensembl 74_37 -1 known missense c.167 p.V56D 1.000 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 tier1 - - 44 0 0.00 32 12 27.27 87 0 0.00 65 28 30.11 SV2C 0 genome.wustl.edu 37 5 75427805 75427805 + Missense_Mutation SNP A A G TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 5 75427805 75427805 A G SNP SV2C ENST00000502798 human ensembl 74_37 +1 known missense c.230 p.E77G 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2C HGNC ENSG00000122012 tier1 - - 32 0 0.00 26 13 33.33 64 0 0.00 56 13 18.84 BCL9 0 genome.wustl.edu 37 1 147096599 147096599 + Missense_Mutation SNP C C A TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 1 147096599 147096599 C A SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known missense c.4120 p.P1374T 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 tier1 - - 29 0 0.00 44 5 10.20 29 0 0.00 20 8 28.57 KSR1 0 genome.wustl.edu 37 17 25919582 25919582 + Missense_Mutation SNP A A T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 17 25919582 25919582 A T SNP KSR1 ENST00000319524 human ensembl 74_37 +1 known missense c.1229 p.D410V 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 tier1 - - 73 0 0.00 57 21 26.92 104 0 0.00 86 37 30.08 CENPE 0 genome.wustl.edu 37 4 104061997 104061997 + Missense_Mutation SNP C C T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 4 104061997 104061997 C T SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.5728 p.E1910K 0.035 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 tier1 - - 50 0 0.00 37 34 47.89 117 0 0.00 47 56 54.37 ARHGAP27 0 genome.wustl.edu 37 17 43474374 43474374 + Missense_Mutation SNP G G C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 17 43474374 43474374 G C SNP ARHGAP27 ENST00000428638 human ensembl 74_37 -1 known missense c.1859 p.P620R 0.000 NULL pfam_RhoGAP_dom,pfam_WW_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ENSG00000159314 tier1 - - 113 0 0.00 63 23 26.74 21 0 0.00 29 12 29.27 DNMT3B 0 genome.wustl.edu 37 20 31376688 31376688 + Missense_Mutation SNP T T G TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 20 31376688 31376688 T G SNP DNMT3B ENST00000328111 human ensembl 74_37 +1 known missense c.683 p.L228R 0.999 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 tier1 - - 148 0 0.00 178 38 17.59 42 0 0.00 57 17 22.67 KAT2B 0 genome.wustl.edu 37 3 20153214 20153214 + Silent SNP A A G TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 3 20153214 20153214 A G SNP KAT2B ENST00000263754 human ensembl 74_37 +1 known silent c.978 p.Q326 1.000 pirsf_Hist_acetylase_PCAF,pfam_PCAF_N pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GT_dom - no_errors KAT2B HGNC ENSG00000114166 tier1 - - 68 0 0.00 76 23 23.23 100 0 0.00 94 24 20.34 TTN 0 genome.wustl.edu 37 2 179440976 179440976 + Missense_Mutation SNP C C T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 2 179440976 179440976 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.62179 p.A20727T 0.948 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 11 0 0.00 4 4 50.00 104 0 0.00 35 22 38.60 KIF12 0 genome.wustl.edu 37 9 116854198 116854198 + Missense_Mutation SNP G G C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 9 116854198 116854198 G C SNP KIF12 ENST00000374118 human ensembl 74_37 -1 known missense c.1485 p.S495R 0.931 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF12 HGNC ENSG00000136883 tier1 - - 68 0 0.00 54 12 18.18 14 0 0.00 14 5 26.32 ATP10D 0 genome.wustl.edu 37 4 47548647 47548647 + Missense_Mutation SNP G G A TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 4 47548647 47548647 G A SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known missense c.1403 p.R468K 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 tier1 - - 32 0 0.00 25 9 26.47 79 0 0.00 50 18 26.47 SLC52A3 0 genome.wustl.edu 37 20 746010 746020 + Frame_Shift_Del DEL AGTAGGTGGGC AGTAGGTGGGC - TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 AGTAGGTGGGC AGTAGGTGGGC AGTAGGTGGGC - AGTAGGTGGGC AGTAGGTGGGC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 20 746010 746020 AGTAGGTGGGC - DEL SLC52A3 ENST00000217254 human ensembl 74_37 -1 known frame_shift_del c.409_399 p.T135fs 1.000:0.009:0.002:0.001:0.001:0.374:0.000:0.001:0.971:1.000:1.000 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A3 HGNC ENSG00000101276 tier1 32 0 0.00 31 4 11.43 32 0 0.00 31 4 11.43 TTN 0 genome.wustl.edu 37 2 179664458 179664459 + Frame_Shift_Del DEL TC TC - TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 TC TC TC - TC TC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 2 179664458 179664459 TC - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.670 p.K224fs 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 32 0 0.00 23 10 30.30 57 0 0.00 23 12 34.29 ZCCHC6 0 genome.wustl.edu 37 9 88967642 88967663 + Frame_Shift_Del DEL TCTTTATGAAACAGTCGTCTTA TCTTTATGAAACAGTCGTCTTA - TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 TCTTTATGAAACAGTCGTCTTA TCTTTATGAAACAGTCGTCTTA TCTTTATGAAACAGTCGTCTTA - TCTTTATGAAACAGTCGTCTTA TCTTTATGAAACAGTCGTCTTA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 9 88967642 88967663 TCTTTATGAAACAGTCGTCTTA - DEL ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known frame_shift_del c.473_452 p.V151fs 0.914:0.999:0.999:1.000:1.000:0.999:1.000:1.000:0.995:0.985:0.928:0.467:0.530:0.514:0.411:0.720:0.780:0.976:1.000:1.000:0.985:0.998 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 tier1 128 0 0.00 108 20 15.62 128 0 0.00 108 20 15.62 LDHB 0 genome.wustl.edu 37 12 21799948 21799956 + Splice_Site DEL AGACTGTAA AGACTGTAA - TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 AGACTGTAA AGACTGTAA AGACTGTAA - AGACTGTAA AGACTGTAA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 12 21799948 21799956 AGACTGTAA - DEL LDHB ENST00000350669 human ensembl 74_37 -1 known splice_site_del c.130-6_130-1 e2-1 1.000:1.000:1.000:1.000:0.991:0.006:0.000:0.001:0.002 - - - no_errors LDHB HGNC ENSG00000111716 tier1 110 0 0.00 77 11 12.50 110 0 0.00 77 11 12.50 SP91 0 genome.wustl.edu 37 6 84311022 84311023 + Frame_Shift_Ins INS - - T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 6 84311022 84311023 - T INS SP91 ENST00000369694 human ensembl 74_37 -1 known frame_shift_ins c.1292_1291 p.T431fs 1.000:0.998 NULL pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SP91 HGNC ENSG00000065609 tier1 59 0 0.00 43 34 44.16 104 0 0.00 51 25 32.89 GPX5 0 genome.wustl.edu 37 6 28501767 28501767 + Frame_Shift_Del DEL G G - TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 6 28501767 28501767 G - DEL GPX5 ENST00000412168 human ensembl 74_37 +1 known frame_shift_del c.489 p.G164fs 0.701 superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase - no_errors GPX5 HGNC ENSG00000224586 tier1 90 0 0.00 61 79 56.43 117 0 0.00 38 52 57.78 EM 0 genome.wustl.edu 37 4 71509722 71509722 + Frame_Shift_Del DEL A A - TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 4 71509722 71509722 A - DEL EM ENST00000396073 human ensembl 74_37 +1 known frame_shift_del c.2579 p.E862fs 0.998 NULL NULL - no_errors EM HGNC ENSG00000132464 tier1 12 0 0.00 17 7 29.17 117 0 0.00 89 20 18.35 RPPH1 0 genome.wustl.edu 37 14 20811609 20811609 + R DEL A A - TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 14 20811609 20811609 A - DEL RPPH1 ENST00000554988 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RPPH1 HGNC ENSG00000259001 tier1 27 0 0.00 8 12 60.00 57 0 0.00 14 37 72.55 GPR123 0 genome.wustl.edu 37 10 134916200 134916200 + Splice_Site SNP G G T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 10 134916200 134916200 G T SNP GPR123 ENST00000607359 human ensembl 74_37 +1 putative splice_site c.2416-1 e14-1 1.000 - - - no_errors GPR123 HGNC ENSG00000197177 tier1 - - 113 0 0.00 9 22 68.75 25 0 0.00 2 10 83.33 GRIN3B 0 genome.wustl.edu 37 19 1005248 1005248 + Missense_Mutation SNP C C T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 19 1005248 1005248 C T SNP GRIN3B ENST00000234389 human ensembl 74_37 +1 known missense c.1748 p.A583V 0.994 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC ENSG00000116032 tier1 - - 139 0 0.00 10 74 87.06 18 0 0.00 1 23 95.83 HPN-AS1 0 genome.wustl.edu 37 19 35597197 35597197 + R SNP C C T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 19 35597197 35597197 C T SNP HPN-AS1 ENST00000392227 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors HPN-AS1 HGNC ENSG00000227392 tier1 - - 104 0 0.00 11 40 78.43 18 0 0.00 2 4 66.67 KNDC1 0 genome.wustl.edu 37 10 135024137 135024137 + Missense_Mutation SNP G G C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 10 135024137 135024137 G C SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.3823 p.V1275L 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 tier1 - - 127 0 0.00 9 37 80.43 54 1 1.82 6 40 86.96 MGAT5B 0 genome.wustl.edu 37 17 74944891 74944891 + Nonsense_Mutation SNP C C T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 17 74944891 74944891 C T SNP MGAT5B ENST00000428789 human ensembl 74_37 +1 known nonsense c.2377 p.Q793* 1.000 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 tier1 - - 132 0 0.00 68 70 50.72 7 0 0.00 7 3 30.00 MTTP 0 genome.wustl.edu 37 4 100543870 100543870 + Silent SNP C C A TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 4 100543870 100543870 C A SNP MTTP ENST00000265517 human ensembl 74_37 +1 known silent c.2550 p.G850 0.981 NULL pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 tier1 - - 35 0 0.00 11 25 69.44 54 0 0.00 7 38 84.44 PCDHA1 0 genome.wustl.edu 37 5 140167415 140167415 + Missense_Mutation SNP A A G TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 5 140167415 140167415 A G SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.1540 p.S514G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 tier1 - - 170 0 0.00 66 37 35.92 16 0 0.00 7 2 22.22 PHLPP2 0 genome.wustl.edu 37 16 71712775 71712775 + Missense_Mutation SNP G G A TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 16 71712775 71712775 G A SNP PHLPP2 ENST00000356272 human ensembl 74_37 -1 known missense c.1151 p.P384L 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom - no_errors PHLPP2 HGNC ENSG00000040199 tier1 - - 30 0 0.00 3 14 82.35 95 0 0.00 6 36 85.71 SPTBN4 0 genome.wustl.edu 37 19 41019260 41019260 + Missense_Mutation SNP G G A TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 19 41019260 41019260 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.2564 p.R855H 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 tier1 - - 45 0 0.00 7 4 33.33 6 0 0.00 0 2 100.00 NEUROG3 0 genome.wustl.edu 37 10 71332468 71332468 + Missense_Mutation SNP G G C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 10 71332468 71332468 G C SNP NEUROG3 ENST00000242462 human ensembl 74_37 -1 known missense c.332 p.P111R 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG3 HGNC ENSG00000122859 tier1 - - 86 0 0.00 35 43 55.13 30 1 3.23 9 28 75.68 MIR3938 0 genome.wustl.edu 37 3 55886574 55886574 + R DEL A A - TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 3 55886574 55886574 A - DEL MIR3938 ENST00000582157 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3938 HGNC ENSG00000264013 tier1 21 0 0.00 23 13 36.11 39 1 2.50 22 13 37.14 IL17C 0 genome.wustl.edu 37 16 88706424 88706424 + Frame_Shift_Del DEL A A - TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 16 88706424 88706424 A - DEL IL17C ENST00000244241 human ensembl 74_37 +1 known frame_shift_del c.538 p.T180fs 0.000 pfam_IL-17_fam,prints_IL-17_chr pfam_IL-17_fam,prints_IL-17_chr - no_errors IL17C HGNC ENSG00000124391 tier1 79 0 0.00 16 2 11.11 12 0 0.00 6 0 0.00 TNRC6A 0 genome.wustl.edu 37 16 24788423 24788434 + In_Frame_Del DEL GCAGCCACAGCC GCAGCCACAGCC - TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 GCAGCCACAGCC GCAGCCACAGCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 16 24788423 24788434 GCAGCCACAGCC - DEL TNRC6A ENST00000395799 human ensembl 74_37 +1 known in_frame_del c.333_344 p.PQPQ115in_frame_del 0.272:0.260:0.233:0.187:0.163:0.109:0.101:0.113:0.113:0.139:0.129:0.003 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 tier1 5 0 0.00 4 0 0.00 5 0 0.00 4 0 0.00 YY1 0 genome.wustl.edu 37 14 100705951 100705951 + Nonsense_Mutation SNP G G T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 14 100705951 100705951 G T SNP YY1 ENST00000262238 human ensembl 74_37 +1 known nonsense c.370 p.E124* 1.000 pirsf_TF_Yin_yang pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY1 HGNC ENSG00000100811 tier1 - - 49 0 0.00 10 3 23.08 12 0 0.00 9 0 0.00 ENSG00000268673 0 genome.wustl.edu 37 19 15871188 15871188 + R SNP C C G TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 19 15871188 15871188 C G SNP ENSG00000268673 ENST00000595525 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LLNLR-249E10.1 Clone_based_vega_gene ENSG00000268673 tier1 - - 127 0 0.00 195 52 21.05 2 0 0.00 1 0 0.00 FAM86HP 0 genome.wustl.edu 37 3 129824474 129824474 + R SNP G G C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 3 129824474 129824474 G C SNP FAM86HP ENST00000500074 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors FAM86HP HGNC ENSG00000253540 tier1 - - 185 0 0.00 135 50 27.03 0 0 0.00 0 0 0.00 GALNT6 0 genome.wustl.edu 37 12 51785401 51785402 + R INS - - AGCCGC TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 12 51785401 51785402 - AGCCGC INS GALNT6 ENST00000603203 human ensembl 74_37 -1 known rna NULL NULL 0.021:0.127 - - - no_errors GALNT6 HGNC ENSG00000139629 tier1 1 0 0.00 0 0 0.00 1 0 0.00 0 0 0.00 GOLGA8M 0 genome.wustl.edu 37 15 28953550 28953550 + Missense_Mutation SNP T T C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 15 28953550 28953550 T C SNP GOLGA8M ENST00000563027 human ensembl 74_37 -1 novel missense c.319 p.K107E 0.825 NULL NULL - no_errors GOLGA8M HGNC ENSG00000188626 tier1 - - 39 0 0.00 36 23 38.98 0 0 0.00 0 0 0.00 HS3ST3B1 0 genome.wustl.edu 37 17 14248744 14248744 + Missense_Mutation SNP G G T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 17 14248744 14248744 G T SNP HS3ST3B1 ENST00000360954 human ensembl 74_37 +1 known missense c.954 p.K318N 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3B1 HGNC ENSG00000125430 tier1 - - 23 0 0.00 27 5 15.62 1 0 0.00 3 0 0.00 INSM2 0 genome.wustl.edu 37 14 36004278 36004278 + Missense_Mutation SNP G G T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 14 36004278 36004278 G T SNP INSM2 ENST00000307169 human ensembl 74_37 +1 known missense c.820 p.D274Y 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 tier1 - - 89 0 0.00 34 4 10.53 0 0 0.00 2 0 0.00 PLEKHN1 0 genome.wustl.edu 37 1 906235 906235 + Missense_Mutation SNP G G C TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 1 906235 906235 G C SNP PLEKHN1 ENST00000379409 human ensembl 74_37 +1 known missense c.581 p.C194S 0.001 smart_Pleckstrin_homology smart_Pleckstrin_homology - no_errors PLEKHN1 HGNC ENSG00000187583 tier1 - - 23 0 0.00 4 5 55.56 1 0 0.00 0 0 0.00 TMEM191C 0 genome.wustl.edu 37 22 21822373 21822385 + R DEL AGGATCCGGGGGT AGGATCCGGGGGT - TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 AGGATCCGGGGGT AGGATCCGGGGGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e341a72a-16fb-4279-b2af-6e2e1e0dafbc 40e2c457-030c-4524-af8a-0da16e6a4b63 22 21822373 21822385 AGGATCCGGGGGT - DEL TMEM191C ENST00000449424 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.005:0.001:0.001:0.002:0.003:0.000:0.000:0.000:0.057:0.077:0.000:0.000 - - - no_errors TMEM191C HGNC ENSG00000206140 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00