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 OR1G1 0 genome.wustl.edu 37 17 3030438 3030438 + Missense_Mutation SNP C C A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 17 3030438 3030438 C A SNP OR1G1 ENST00000328890 human ensembl 74_37 -1 known missense c.408 p.M136I 0.915 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1G1 HGNC ENSG00000183024 tier1 - - 29 0 0.00 14 19 57.58 83 0 0.00 29 29 50.00 GPR98 0 genome.wustl.edu 37 5 90001356 90001356 + Missense_Mutation SNP A A G TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 5 90001356 90001356 A G SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.8526 p.I2842M 0.019 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 66 0 0.00 37 6 13.95 103 0 0.00 48 17 26.15 GSG1 0 genome.wustl.edu 37 12 13237900 13237900 + Missense_Mutation SNP G G T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 12 13237900 13237900 G T SNP GSG1 ENST00000324458 human ensembl 74_37 -1 known missense c.1024 p.Q342K 0.001 NULL pfam_GSG-1 - no_errors GSG1 HGNC ENSG00000111305 tier1 - - 70 0 0.00 69 23 25.00 97 0 0.00 89 21 18.75 EMR2 0 genome.wustl.edu 37 19 14877108 14877108 + Nonsense_Mutation SNP G G T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 19 14877108 14877108 G T SNP EMR2 ENST00000315576 human ensembl 74_37 -1 known nonsense c.573 p.C191* 0.597 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR2 HGNC ENSG00000127507 tier1 - - 54 0 0.00 27 39 59.09 41 0 0.00 12 10 45.45 OBSCN 0 genome.wustl.edu 37 1 228447341 228447341 + Missense_Mutation SNP C C A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 1 228447341 228447341 C A SNP OBSCN ENST00000570156 human ensembl 74_37 +1 putative missense c.5001 p.S1667R 0.031 pfam_Ig_I-set,pfam_Immunoglobulin,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 - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 79 0 0.00 48 7 12.73 44 0 0.00 16 6 27.27 LARP6 0 genome.wustl.edu 37 15 71124995 71124995 + Missense_Mutation SNP A A G TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 15 71124995 71124995 A G SNP LARP6 ENST00000299213 human ensembl 74_37 -1 known missense c.872 p.I291T 1.000 NULL pfam_Lupus_La_R-bd,smart_Lupus_La_R-bd,pfscan_Lupus_La_R-bd,prints_Lupus_La - no_errors LARP6 HGNC ENSG00000166173 tier1 - - 88 0 0.00 69 26 27.37 101 1 0.98 70 18 20.45 PPFIA1 0 genome.wustl.edu 37 11 70189796 70189796 + Missense_Mutation SNP G G T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 11 70189796 70189796 G T SNP PPFIA1 ENST00000253925 human ensembl 74_37 +1 known missense c.1729 p.D577Y 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC ENSG00000131626 tier1 - - 43 0 0.00 21 11 34.38 88 0 0.00 44 25 36.23 MEG3 0 genome.wustl.edu 37 14 101300787 101300787 + R SNP C C T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 14 101300787 101300787 C T SNP MEG3 ENST00000398461 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MEG3 HGNC ENSG00000214548 tier1 - - 78 0 0.00 66 9 12.00 170 0 0.00 106 17 13.82 NDST4 0 genome.wustl.edu 37 4 115997952 115997952 + Missense_Mutation SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 4 115997952 115997952 G A SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known missense c.241 p.L81F 0.968 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 tier1 - - 94 0 0.00 52 25 32.05 116 0 0.00 69 28 28.87 SPIN4 0 genome.wustl.edu 37 X 62570182 62570182 + Missense_Mutation SNP C C T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 X 62570182 62570182 C T SNP SPIN4 ENST00000335144 human ensembl 74_37 -1 known missense c.517 p.D173N 1.000 NULL pfam_Spin_Ssty - no_errors SPIN4 HGNC ENSG00000186767 tier1 - - 44 0 0.00 30 9 23.08 113 0 0.00 60 31 34.07 OR51F1 0 genome.wustl.edu 37 11 4790430 4790430 + Missense_Mutation SNP A A G TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 11 4790430 4790430 A G SNP OR51F1 ENST00000380383 human ensembl 74_37 -1 known missense c.739 p.F247L 0.829 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F1 HGNC ENSG00000188069 tier1 - - 71 0 0.00 30 5 14.29 134 0 0.00 44 14 24.14 PIK3C2G 0 genome.wustl.edu 37 12 18649044 18649044 + Missense_Mutation SNP A A G TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 12 18649044 18649044 A G SNP PIK3C2G ENST00000538779 human ensembl 74_37 +1 known missense c.2842 p.I948V 0.987 superfamily_Kinase-like_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 tier1 - - 59 0 0.00 63 17 21.25 48 0 0.00 68 27 28.12 NCALD 0 genome.wustl.edu 37 8 102731522 102731522 + Silent SNP T T C TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 8 102731522 102731522 T C SNP NCALD ENST00000311028 human ensembl 74_37 -1 known silent c.336 p.G112 0.099 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors NCALD HGNC ENSG00000104490 tier1 - - 33 0 0.00 34 18 34.62 94 0 0.00 38 26 40.62 MYH7B 0 genome.wustl.edu 37 20 33588591 33588591 + Missense_Mutation SNP G G C TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 20 33588591 33588591 G C SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.5325 p.Q1775H 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tR-bd_arm,superfamily_t-SRE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 tier1 - - 35 0 0.00 32 32 50.00 54 0 0.00 38 28 42.42 FBN1 0 genome.wustl.edu 37 15 48729275 48729275 + Splice_Site SNP C C G TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 15 48729275 48729275 C G SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known splice_site c.6380-1 e52-1 1.000 - - - no_errors FBN1 HGNC ENSG00000166147 tier1 - - 112 0 0.00 62 31 33.33 77 0 0.00 70 24 25.53 TMEM217 0 genome.wustl.edu 37 6 37186447 37186447 + Missense_Mutation SNP G G T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 6 37186447 37186447 G T SNP TMEM217 ENST00000336655 human ensembl 74_37 -1 known missense c.360 p.D120E 0.000 NULL NULL - no_errors TMEM217 HGNC ENSG00000172738 tier1 - - 48 0 0.00 56 11 16.42 151 0 0.00 89 16 15.09 C5orf42 0 genome.wustl.edu 37 5 37239051 37239051 + Silent SNP T T A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 5 37239051 37239051 T A SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known silent c.846 p.V282 0.995 superfamily_Quino_amine_DH_bsu superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 tier1 - - 135 0 0.00 74 16 17.78 35 0 0.00 49 10 16.95 ASIC5 0 genome.wustl.edu 37 4 156773430 156773430 + Silent SNP A A G TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 4 156773430 156773430 A G SNP ASIC5 ENST00000537611 human ensembl 74_37 -1 known silent c.624 p.F208 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC5 HGNC ENSG00000256394 tier1 - - 151 0 0.00 61 16 20.78 51 0 0.00 50 18 26.47 TNXB 0 genome.wustl.edu 37 6 32056601 32056601 + Missense_Mutation SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 6 32056601 32056601 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.2740 p.R914W 0.914 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 - - 83 0 0.00 59 24 28.57 48 0 0.00 31 4 11.43 PLEKHA2 0 genome.wustl.edu 37 8 38827160 38827160 + Silent SNP C C T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 8 38827160 38827160 C T SNP PLEKHA2 ENST00000420274 human ensembl 74_37 +1 known silent c.1137 p.F379 0.148 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA2 HGNC ENSG00000169499 tier1 - - 99 0 0.00 98 188 65.73 26 0 0.00 30 44 59.46 CTBP1-AS2 0 genome.wustl.edu 37 4 1244275 1244275 + R SNP G G T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 4 1244275 1244275 G T SNP CTBP1-AS2 ENST00000578730 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors CTBP1-AS2 HGNC ENSG00000196810 tier1 - - 28 0 0.00 21 5 19.23 34 0 0.00 45 6 11.76 SGIP1 0 genome.wustl.edu 37 1 67206385 67206385 + Missense_Mutation SNP C C T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 1 67206385 67206385 C T SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known missense c.2372 p.S791F 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 tier1 - - 169 0 0.00 66 40 37.74 43 0 0.00 45 32 41.56 CHST14 0 genome.wustl.edu 37 15 40764365 40764365 + Missense_Mutation SNP A A T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 15 40764365 40764365 A T SNP CHST14 ENST00000306243 human ensembl 74_37 +1 known missense c.953 p.H318L 0.115 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST14 HGNC ENSG00000169105 tier1 - - 84 0 0.00 62 14 18.42 66 0 0.00 46 9 16.36 MYT1L 0 genome.wustl.edu 37 2 1921033 1921033 + Missense_Mutation SNP T T C TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 2 1921033 1921033 T C SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.1562 p.Y521C 1.000 pfam_Znf_C2HC pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 75 0 0.00 35 18 33.96 158 0 0.00 95 21 18.10 LTK 0 genome.wustl.edu 37 15 41797191 41797191 + Missense_Mutation SNP C C T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 15 41797191 41797191 C T SNP LTK ENST00000263800 human ensembl 74_37 -1 known missense c.1997 p.G666E 0.995 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LTK HGNC ENSG00000062524 tier1 - - 50 0 0.00 39 7 15.22 93 0 0.00 58 14 19.18 SPAG17 0 genome.wustl.edu 37 1 118509355 118509355 + Missense_Mutation SNP C C T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 1 118509355 118509355 C T SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.6409 p.E2137K 0.856 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 tier1 - - 73 0 0.00 25 6 19.35 117 0 0.00 48 31 39.24 NUB1 0 genome.wustl.edu 37 7 151049238 151049238 + Missense_Mutation SNP G G T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 7 151049238 151049238 G T SNP NUB1 ENST00000470316 human ensembl 74_37 +1 known missense c.404 p.G135V 0.000 NULL NULL - no_errors NUB1 HGNC ENSG00000013374 tier1 - - 64 0 0.00 17 8 32.00 118 0 0.00 17 13 43.33 DAPK1 0 genome.wustl.edu 37 9 90283512 90283512 + Missense_Mutation SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 9 90283512 90283512 G A SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known missense c.1924 p.D642N 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 tier1 - - 43 0 0.00 26 11 29.73 68 0 0.00 33 14 29.79 TNRC6C 0 genome.wustl.edu 37 17 76047077 76047077 + Missense_Mutation SNP C C A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 17 76047077 76047077 C A SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known missense c.1934 p.T645K 1.000 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 tier1 - - 86 0 0.00 106 27 20.30 112 0 0.00 82 29 26.13 MKI67 0 genome.wustl.edu 37 10 129901119 129901119 + Silent SNP G G C TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 10 129901119 129901119 G C SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known silent c.8985 p.P2995 0.012 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 tier1 - - 80 0 0.00 44 12 21.43 105 0 0.00 62 40 38.46 GRID1 0 genome.wustl.edu 37 10 87482894 87482894 + Silent SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 10 87482894 87482894 G A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known silent c.1863 p.G621 0.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_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 GRID1 HGNC ENSG00000182771 tier1 - - 36 0 0.00 19 10 34.48 59 0 0.00 30 13 30.23 ANKRD11 0 genome.wustl.edu 37 16 89347362 89347362 + Missense_Mutation SNP T T C TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 16 89347362 89347362 T C SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.5588 p.D1863G 0.085 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 tier1 - - 79 0 0.00 38 12 24.00 56 0 0.00 39 6 13.33 CDK11B 0 genome.wustl.edu 37 1 1576445 1576445 + Missense_Mutation SNP C C T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 1 1576445 1576445 C T SNP CDK11B ENST00000407249 human ensembl 74_37 -1 known missense c.1048 p.D350N 0.267 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK11B HGNC ENSG00000248333 tier1 - - 31 0 0.00 20 8 28.57 45 0 0.00 30 12 28.57 TEX11 0 genome.wustl.edu 37 X 69830390 69830390 + Silent SNP C C T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 X 69830390 69830390 C T SNP TEX11 ENST00000344304 human ensembl 74_37 -1 known silent c.1800 p.K600 0.815 NULL pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC ENSG00000120498 tier1 - - 201 0 0.00 99 24 19.51 71 0 0.00 43 13 23.21 EPHA3 0 genome.wustl.edu 37 3 89259017 89259017 + Missense_Mutation SNP A A G TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 3 89259017 89259017 A G SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.161 p.E54G 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 tier1 - - 50 0 0.00 17 8 32.00 72 0 0.00 40 23 36.51 MPDZ 0 genome.wustl.edu 37 9 13217183 13217183 + Silent SNP T T C TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 9 13217183 13217183 T C SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known silent c.1197 p.K399 0.998 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 tier1 - - 149 0 0.00 62 24 27.91 48 0 0.00 21 28 57.14 CNTRL 0 genome.wustl.edu 37 9 123912674 123912674 + Missense_Mutation SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 9 123912674 123912674 G A SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known missense c.3876 p.M1292I 0.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tR-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 tier1 - - 58 0 0.00 27 20 42.55 158 0 0.00 43 24 35.82 ENSG00000204398 0 genome.wustl.edu 37 13 112278380 112278380 + Missense_Mutation SNP A A T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 13 112278380 112278380 A T SNP ENSG00000204398 ENST00000375713 human ensembl 74_37 +1 putative missense c.38 p.K13M 0.000 NULL NULL - no_errors RP11-65D24.2 Clone_based_vega_gene ENSG00000204398 tier1 - - 110 0 0.00 32 30 48.39 79 0 0.00 31 17 35.42 SLC4A7 0 genome.wustl.edu 37 3 27442283 27442283 + Missense_Mutation SNP T T C TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 3 27442283 27442283 T C SNP SLC4A7 ENST00000454389 human ensembl 74_37 -1 known missense c.2399 p.N800S 0.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 tier1 rs200933810 GMAF=0.0005 95 0 0.00 53 20 27.40 42 0 0.00 53 26 32.50 SCYL1 0 genome.wustl.edu 37 11 65305961 65305961 + Missense_Mutation SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 11 65305961 65305961 G A SNP SCYL1 ENST00000270176 human ensembl 74_37 +1 known missense c.2351 p.R784Q 0.840 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors SCYL1 HGNC ENSG00000142186 tier1 - - 9 0 0.00 16 5 23.81 12 0 0.00 14 5 26.32 KCNK13 0 genome.wustl.edu 37 14 90651110 90651110 + Silent SNP C C T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 14 90651110 90651110 C T SNP KCNK13 ENST00000282146 human ensembl 74_37 +1 known silent c.990 p.D330 0.129 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 tier1 rs139112374 - 87 0 0.00 57 33 36.67 53 0 0.00 25 13 34.21 BCL11A 0 genome.wustl.edu 37 2 60687183 60687183 + R SNP G G T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 2 60687183 60687183 G T SNP BCL11A ENST00000477659 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BCL11A HGNC ENSG00000119866 tier1 - - 62 0 0.00 44 5 10.20 80 1 1.19 71 13 15.12 PPP1R12A 0 genome.wustl.edu 37 12 80199528 80199528 + Missense_Mutation SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 12 80199528 80199528 G A SNP PPP1R12A ENST00000261207 human ensembl 74_37 -1 known missense c.1844 p.A615V 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC ENSG00000058272 tier1 - - 48 0 0.00 26 11 29.73 141 0 0.00 44 24 35.29 OR51D1 0 genome.wustl.edu 37 11 4661029 4661029 + Missense_Mutation SNP G G T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 11 4661029 4661029 G T SNP OR51D1 ENST00000357605 human ensembl 74_37 +1 known missense c.9 p.K3N 0.067 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51D1 HGNC ENSG00000197428 tier1 - - 62 0 0.00 26 19 42.22 134 0 0.00 49 38 43.18 IFT52 0 genome.wustl.edu 37 20 42275733 42275733 + R SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 20 42275733 42275733 G A SNP IFT52 ENST00000461012 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IFT52 HGNC ENSG00000101052 tier1 - - 38 0 0.00 43 45 51.14 50 0 0.00 97 113 53.81 PLP1 0 genome.wustl.edu 37 X 103041725 103041725 + R SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 X 103041725 103041725 G A SNP PLP1 ENST00000465975 human ensembl 74_37 +1 putative rna NULL NULL 0.103 - - - no_errors PLP1 HGNC ENSG00000123560 tier1 - - 18 0 0.00 7 47 87.04 49 0 0.00 27 120 81.63 SCUBE1 0 genome.wustl.edu 37 22 43604213 43604213 + Missense_Mutation SNP T T A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 22 43604213 43604213 T A SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known missense c.2599 p.T867S 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 tier1 - - 33 0 0.00 63 16 20.25 71 0 0.00 87 16 15.53 PTPRU 0 genome.wustl.edu 37 1 29618406 29618406 + Missense_Mutation SNP A A G TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 1 29618406 29618406 A G SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.2374 p.T792A 0.992 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 tier1 - - 62 0 0.00 41 4 8.89 64 0 0.00 19 3 13.64 PKD1L1 0 genome.wustl.edu 37 7 47894630 47894630 + Missense_Mutation SNP C C G TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 7 47894630 47894630 C G SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.4709 p.R1570T 0.000 pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 tier1 - - 109 0 0.00 43 16 27.12 84 0 0.00 63 8 11.27 OR2H1 0 genome.wustl.edu 37 6 29429643 29429643 + Missense_Mutation SNP T T A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 6 29429643 29429643 T A SNP OR2H1 ENST00000377132 human ensembl 74_37 +1 known missense c.97 p.Y33N 0.987 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2H1 HGNC ENSG00000204688 tier1 - - 74 0 0.00 35 16 31.37 40 0 0.00 22 4 15.38 GTF2B 0 genome.wustl.edu 37 1 89325834 89325834 + Nonsense_Mutation SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 1 89325834 89325834 G A SNP GTF2B ENST00000370500 human ensembl 74_37 -1 known nonsense c.394 p.R132* 0.993 pfam_TFIIB_cyclin,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like pfam_TFIIB_cyclin,pfam_Znf_TFIIB,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors GTF2B HGNC ENSG00000137947 tier1 - - 69 0 0.00 33 19 36.54 66 1 1.49 58 24 29.27 PARD6B 0 genome.wustl.edu 37 20 49366862 49366862 + Missense_Mutation SNP C C T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 20 49366862 49366862 C T SNP PARD6B ENST00000371610 human ensembl 74_37 +1 known missense c.956 p.S319L 0.991 NULL pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6B HGNC ENSG00000124171 tier1 - - 69 0 0.00 43 28 39.44 139 0 0.00 113 38 25.17 EMX1 0 genome.wustl.edu 37 2 73161038 73161038 + Silent SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 2 73161038 73161038 G A SNP EMX1 ENST00000258106 human ensembl 74_37 +1 known silent c.828 p.T276 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors EMX1 HGNC ENSG00000135638 tier1 - - 62 0 0.00 52 25 32.05 113 0 0.00 70 16 18.60 SPAG5-AS1 0 genome.wustl.edu 37 17 26925903 26925903 + R SNP C C T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 17 26925903 26925903 C T SNP SPAG5-AS1 ENST00000414744 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors SPAG5-AS1 HGNC ENSG00000227543 tier1 - - 127 0 0.00 82 48 36.92 38 0 0.00 16 6 27.27 RSU1P2 0 genome.wustl.edu 37 10 45602152 45602152 + R SNP G G C TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 10 45602152 45602152 G C SNP RSU1P2 ENST00000423875 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RSU1P2 HGNC ENSG00000232554 tier1 - - 109 0 0.00 73 18 19.78 59 0 0.00 36 18 33.33 SNX29P2 0 genome.wustl.edu 37 16 29339873 29339873 + Splice_Site SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 16 29339873 29339873 G A SNP SNX29P2 ENST00000398878 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors SNX29P2 HGNC ENSG00000198106 tier1 - - 52 0 0.00 78 11 12.36 4 0 0.00 10 8 44.44 EP300 0 genome.wustl.edu 37 22 41513493 41513493 + Missense_Mutation SNP T T G TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 22 41513493 41513493 T G SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.397 p.S133A 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 tier1 - - 29 0 0.00 31 6 16.22 125 0 0.00 133 22 14.19 PCDHB15 0 genome.wustl.edu 37 5 140625567 140625567 + Missense_Mutation SNP A A G TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 5 140625567 140625567 A G SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.421 p.K141E 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 tier1 - - 48 0 0.00 22 19 46.34 127 0 0.00 58 21 26.58 HECTD3 0 genome.wustl.edu 37 1 45469037 45469037 + R SNP C C T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 1 45469037 45469037 C T SNP HECTD3 ENST00000486132 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HECTD3 HGNC ENSG00000126107 tier1 - - 25 0 0.00 21 10 32.26 56 0 0.00 28 17 37.78 SMC5 0 genome.wustl.edu 37 9 72882851 72882851 + Missense_Mutation SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 9 72882851 72882851 G A SNP SMC5 ENST00000361138 human ensembl 74_37 +1 known missense c.340 p.V114M 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase - no_errors SMC5 HGNC ENSG00000198887 tier1 - - 125 0 0.00 71 32 31.07 111 0 0.00 122 29 19.21 AKAP9 0 genome.wustl.edu 37 7 91641895 91641895 + Silent SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 7 91641895 91641895 G A SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known silent c.3507 p.K1169 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 tier1 - - 72 0 0.00 45 48 51.61 40 0 0.00 44 68 60.71 TBL3 0 genome.wustl.edu 37 16 2026921 2026921 + Missense_Mutation SNP A A T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 16 2026921 2026921 A T SNP TBL3 ENST00000568546 human ensembl 74_37 +1 known missense c.1399 p.I467F 0.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC ENSG00000183751 tier1 - - 46 0 0.00 26 21 44.68 88 0 0.00 42 22 34.38 ZBED4 0 genome.wustl.edu 37 22 50278947 50278948 + Frame_Shift_Ins INS - - A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 22 50278947 50278948 - A INS ZBED4 ENST00000216268 human ensembl 74_37 +1 known frame_shift_ins c.1637_1638 p.N548fs 0.005:0.000 NULL pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 tier1 56 0 0.00 77 13 14.44 132 0 0.00 174 20 10.31 LOC101928921 0 genome.wustl.edu 37 11 78807973 78807974 + R INS - - CA TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 - - - CA - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 11 78807973 78807974 - CA INS LOC101928921 ENST00000526091 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors CTD-2337I7.1 Clone_based_vega_gene ENSG00000255345 tier1 8 0 0.00 34 5 12.82 7 0 0.00 11 7 38.89 TSHZ2 0 genome.wustl.edu 37 20 51870078 51870080 + In_Frame_Del DEL AAA AAA - TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 AAA AAA AAA - AAA AAA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 20 51870078 51870080 AAA - DEL TSHZ2 ENST00000371497 human ensembl 74_37 +1 known in_frame_del c.81_83 p.K28in_frame_del 0.466:0.989:1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 tier1 50 0 0.00 67 14 17.28 92 0 0.00 87 13 13.00 GLA 0 genome.wustl.edu 37 X 100653780 100653780 + Frame_Shift_Del DEL G G - TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 X 100653780 100653780 G - DEL GLA ENST00000218516 human ensembl 74_37 -1 known frame_shift_del c.794 p.P265fs 1.000 superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors GLA HGNC ENSG00000102393 tier1 189 0 0.00 48 29 37.66 173 0 0.00 32 46 58.97 OR2A25 0 genome.wustl.edu 37 7 143771448 143771448 + Missense_Mutation SNP G G T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 7 143771448 143771448 G T SNP OR2A25 ENST00000408898 human ensembl 74_37 +1 known missense c.136 p.G46W 0.014 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A25 HGNC ENSG00000221933 tier1 - - 140 0 0.00 24 30 55.56 23 0 0.00 4 7 63.64 LRG1 0 genome.wustl.edu 37 19 4538293 4538293 + Nonsense_Mutation SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 19 4538293 4538293 G A SNP LRG1 ENST00000306390 human ensembl 74_37 -1 known nonsense c.703 p.Q235* 0.029 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRG1 HGNC ENSG00000171236 tier1 - - 50 0 0.00 65 12 15.58 127 0 0.00 81 4 4.71 APMAP 0 genome.wustl.edu 37 20 24949549 24949549 + Nonsense_Mutation SNP C C T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 20 24949549 24949549 C T SNP APMAP ENST00000217456 human ensembl 74_37 -1 known nonsense c.1020 p.W340* 0.324 NULL pfam_Strictosidine_synth_cons-reg,pfam_SGL - no_errors APMAP HGNC ENSG00000101474 tier1 - - 86 0 0.00 61 9 12.86 97 0 0.00 62 5 7.46 GOLT1B 0 genome.wustl.edu 37 12 21661451 21661451 + Missense_Mutation SNP G G C TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 12 21661451 21661451 G C SNP GOLT1B ENST00000229314 human ensembl 74_37 +1 known missense c.252 p.L84F 1.000 pfam_Vesicle_transpt_Got1/SFT2 pfam_Vesicle_transpt_Got1/SFT2 - no_errors GOLT1B HGNC ENSG00000111711 tier1 - - 99 0 0.00 112 12 9.68 75 0 0.00 126 10 7.35 FBXO42 0 genome.wustl.edu 37 1 16578257 16578257 + Silent SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 1 16578257 16578257 G A SNP FBXO42 ENST00000375592 human ensembl 74_37 -1 known silent c.1062 p.F354 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO42 HGNC ENSG00000037637 tier1 - - 21 0 0.00 23 6 20.69 96 0 0.00 91 7 7.07 HSP90AA1 0 genome.wustl.edu 37 14 102549597 102549597 + Missense_Mutation SNP C C A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 14 102549597 102549597 C A SNP HSP90AA1 ENST00000334701 human ensembl 74_37 -1 known missense c.1895 p.R632L 1.000 pirsf_Hsp90_fam,pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC ENSG00000080824 tier1 - - 91 0 0.00 96 14 12.73 88 0 0.00 64 5 7.25 TRIM38 0 genome.wustl.edu 37 6 25966859 25966859 + Missense_Mutation SNP C C T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 6 25966859 25966859 C T SNP TRIM38 ENST00000349458 human ensembl 74_37 +1 known missense c.109 p.H37Y 0.004 smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM38 HGNC ENSG00000112343 tier1 - - 55 0 0.00 55 5 8.33 97 0 0.00 61 5 7.58 DGKB 0 genome.wustl.edu 37 7 14647116 14647116 + Missense_Mutation SNP T T A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 7 14647116 14647116 T A SNP DGKB ENST00000258767 human ensembl 74_37 -1 known missense c.1379 p.Q460L 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 tier1 - - 342 0 0.00 276 29 9.51 47 0 0.00 92 6 6.12 DLGAP2 0 genome.wustl.edu 37 8 1639774 1639774 + Missense_Mutation SNP G G C TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 8 1639774 1639774 G C SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.2538 p.W846C 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 tier1 - - 52 0 0.00 38 16 29.63 82 0 0.00 84 9 9.68 ADAM28 0 genome.wustl.edu 37 8 24184147 24184147 + Missense_Mutation SNP A A T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 8 24184147 24184147 A T SNP ADAM28 ENST00000265769 human ensembl 74_37 +1 known missense c.971 p.Q324L 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 tier1 - - 131 0 0.00 128 12 8.57 99 0 0.00 91 6 6.19 ALG1L 0 genome.wustl.edu 37 3 125652482 125652482 + Silent SNP C C A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 3 125652482 125652482 C A SNP ALG1L ENST00000340333 human ensembl 74_37 -1 known silent c.36 p.G12 0.000 NULL NULL - no_errors ALG1L HGNC ENSG00000189366 tier1 - - 56 0 0.00 45 7 13.46 8 0 0.00 7 0 0.00 DAF3 0 genome.wustl.edu 37 19 55672542 55672542 + Missense_Mutation SNP A A G TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 19 55672542 55672542 A G SNP DAF3 ENST00000527223 human ensembl 74_37 -1 known missense c.1007 p.V336A 0.242 NULL NULL - no_errors DAF3 HGNC ENSG00000167646 tier1 - - 71 0 0.00 45 37 45.12 18 0 0.00 5 1 16.67 ENSG00000214105 0 genome.wustl.edu 37 17 77681418 77681418 + R SNP G G C TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 17 77681418 77681418 G C SNP ENSG00000214105 ENST00000397549 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2116F7.1 Clone_based_vega_gene ENSG00000214105 tier1 - - 91 0 0.00 85 8 8.60 12 0 0.00 9 0 0.00 ENSG00000229953 0 genome.wustl.edu 37 1 156616443 156616449 + R DEL CCCTGGC CCCTGGC - TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 CCCTGGC CCCTGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 1 156616443 156616449 CCCTGGC - DEL ENSG00000229953 ENST00000448869 human ensembl 74_37 -1 known rna NULL NULL 0.040:0.040:0.040:0.039:0.037:0.036:0.008 - - - no_errors RP11-284F21.7 Clone_based_vega_gene ENSG00000229953 tier1 13 0 0.00 6 1 14.29 13 0 0.00 6 1 14.29 ENSG00000249430 0 genome.wustl.edu 37 5 139924 139924 + R SNP C C A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 5 139924 139924 C A SNP ENSG00000249430 ENST00000512035 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2231H16.1 Clone_based_vega_gene ENSG00000249430 tier1 - - 25 0 0.00 43 7 14.00 15 0 0.00 7 1 12.50 KIR3DL1 0 genome.wustl.edu 37 19 55340890 55340890 + Missense_Mutation SNP C C A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 19 55340890 55340890 C A SNP KIR3DL1 ENST00000391728 human ensembl 74_37 +1 known missense c.1075 p.L359I 0.001 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 tier1 - - 85 0 0.00 48 27 35.53 7 0 0.00 2 1 33.33 MEOX2 0 genome.wustl.edu 37 7 15725770 15725770 + Missense_Mutation SNP C C G TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 7 15725770 15725770 C G SNP MEOX2 ENST00000262041 human ensembl 74_37 -1 known missense c.258 p.Q86H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MEOX2 HGNC ENSG00000106511 tier1 - - 73 0 0.00 72 14 16.09 13 0 0.00 9 1 10.00 TNPO1 0 genome.wustl.edu 37 5 72184001 72184001 + Missense_Mutation SNP G G T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 5 72184001 72184001 G T SNP TNPO1 ENST00000337273 human ensembl 74_37 +1 known missense c.1400 p.C467F 1.000 pfam_HEAT,superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 tier1 - - 27 0 0.00 27 4 12.90 23 0 0.00 8 0 0.00 CDX2 0 genome.wustl.edu 37 13 28542874 28542874 + Missense_Mutation SNP G G C TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 13 28542874 28542874 G C SNP CDX2 ENST00000381020 human ensembl 74_37 -1 known missense c.270 p.N90K 0.875 pfam_Caudal_activation_dom pfam_Caudal_activation_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX2 HGNC ENSG00000165556 tier1 - - 15 0 0.00 3 5 62.50 4 0 0.00 0 0 0.00 DJA3 0 genome.wustl.edu 37 16 4475871 4475871 + R DEL C C - TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 16 4475871 4475871 C - DEL DJA3 ENST00000572974 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors DJA3 HGNC ENSG00000103423 tier1 30 0 0.00 21 3 12.50 3 0 0.00 0 0 0.00 ISLR2 0 genome.wustl.edu 37 15 74425761 74425761 + Silent SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 15 74425761 74425761 G A SNP ISLR2 ENST00000361742 human ensembl 74_37 +1 known silent c.666 p.V222 0.746 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like_dom - no_errors ISLR2 HGNC ENSG00000167178 tier1 - - 34 0 0.00 18 4 18.18 0 0 0.00 0 0 0.00 MT-CO1 0 genome.wustl.edu 37 MT 7306 7306 + Missense_Mutation SNP T T C TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 MT 7306 7306 T C SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.1403 p.M468T NULL superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 148 0 0.00 6 54 90.00 1 0 0.00 0 1 100.00 OR7E14P 0 genome.wustl.edu 37 11 17073832 17073832 + R SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 11 17073832 17073832 G A SNP OR7E14P ENST00000530490 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors OR7E14P HGNC ENSG00000184669 tier1 - - 66 0 0.00 51 18 26.09 0 0 0.00 0 1 100.00 OR7E14P 0 genome.wustl.edu 37 11 17073884 17073884 + R SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 11 17073884 17073884 G A SNP OR7E14P ENST00000530490 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors OR7E14P HGNC ENSG00000184669 tier1 - - 70 0 0.00 59 12 16.90 0 0 0.00 0 0 0.00 PCDHB14 0 genome.wustl.edu 37 5 140605261 140605261 + Silent SNP C C T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 5 140605261 140605261 C T SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known silent c.2184 p.P728 0.014 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 tier1 - - 65 0 0.00 23 13 36.11 0 0 0.00 0 0 0.00 PKD1 0 genome.wustl.edu 37 16 2156948 2156948 + Missense_Mutation SNP A A C TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 16 2156948 2156948 A C SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.7067 p.V2356G 1.000 pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 tier1 - - 129 0 0.00 121 17 12.32 0 0 0.00 0 0 0.00 ARSD 0 genome.wustl.edu 37 X 2827908 2827908 + Silent SNP G G A TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 X 2827908 2827908 G A SNP ARSD ENST00000381154 human ensembl 74_37 -1 known silent c.1248 p.D416 0.992 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSD HGNC ENSG00000006756 tier1 - - 77 0 0.00 65 15 18.75 3 0 0.00 0 3 100.00 UNC13B 0 genome.wustl.edu 37 9 35386248 35386248 + Missense_Mutation SNP C C G TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 9 35386248 35386248 C G SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.2805 p.I935M 1.000 pfam_Ca-dep_secretion_activator pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 tier1 - - 48 0 0.00 42 5 10.64 122 0 0.00 82 3 3.53 GPRC5C 0 genome.wustl.edu 37 17 72443158 72443158 + Silent SNP G G T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 17 72443158 72443158 G T SNP GPRC5C ENST00000392627 human ensembl 74_37 +1 known silent c.1452 p.V484 0.924 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5C HGNC ENSG00000170412 tier1 - - 61 0 0.00 56 6 9.68 61 0 0.00 31 3 8.82 PSPH 0 genome.wustl.edu 37 7 56088848 56088848 + Missense_Mutation SNP C C T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 7 56088848 56088848 C T SNP PSPH ENST00000275605 human ensembl 74_37 -1 known missense c.58 p.D20N 1.000 pfam_HAD-like_dom,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PSPH HGNC ENSG00000146733 tier1 - - 65 0 0.00 155 22 12.43 26 0 0.00 50 3 5.66 MYH15 0 genome.wustl.edu 37 3 108182019 108182020 + Frame_Shift_Ins INS - - AATACAG TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 3 108182019 108182020 - AATACAG INS MYH15 ENST00000273353 human ensembl 74_37 -1 known frame_shift_ins c.1863_1862 p.Q622fs 0.999:0.977 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_D-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 tier1 125 0 0.00 63 2 3.08 125 0 0.00 63 2 3.08 GPX8 0 genome.wustl.edu 37 5 54460112 54460113 + R INS - - T TCGA-DX-AB2Q-01A-11D-A38Z-09 TCGA-DX-AB2Q-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2efcaa60-02fc-4a76-b706-d8e466b8a002 550cb351-7d6a-45f1-a370-c8fee525d3a6 5 54460112 54460113 - T INS GPX8 ENST00000506123 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors GPX8 HGNC ENSG00000164294 tier1 23 0 0.00 22 3 12.00 36 0 0.00 35 2 5.41