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 KCNQ5 0 genome.wustl.edu 37 6 73904416 73904416 + Missense_Mutation SNP C C T TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 6 73904416 73904416 C T SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.2108 p.T703M 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 tier1 - - 17 0 0.00 26 6 18.75 76 1 1.30 81 15 15.62 PLCB1 0 genome.wustl.edu 37 20 8665641 8665641 + Missense_Mutation SNP C C T TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 20 8665641 8665641 C T SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.925 p.P309S 1.000 pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 tier1 - - 58 0 0.00 36 20 35.71 134 0 0.00 57 31 35.23 WDFY2 0 genome.wustl.edu 37 13 52332390 52332390 + Missense_Mutation SNP C C G TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 13 52332390 52332390 C G SNP WDFY2 ENST00000298125 human ensembl 74_37 +1 known missense c.1127 p.A376G 0.993 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY2 HGNC ENSG00000139668 tier1 - - 66 0 0.00 24 21 46.67 82 0 0.00 46 41 47.13 MAP2K4 0 genome.wustl.edu 37 17 12032516 12032516 + Missense_Mutation SNP A A G TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 17 12032516 12032516 A G SNP MAP2K4 ENST00000415385 human ensembl 74_37 +1 known missense c.985 p.T329A 1.000 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 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 MAP2K4 HGNC ENSG00000065559 tier1 - - 46 0 0.00 24 19 44.19 60 0 0.00 19 14 42.42 OR4C3 0 genome.wustl.edu 37 11 48347059 48347059 + Silent SNP T T G TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 11 48347059 48347059 T G SNP OR4C3 ENST00000319856 human ensembl 74_37 +1 known silent c.567 p.L189 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC ENSG00000176547 tier1 - - 112 0 0.00 74 16 17.78 146 0 0.00 110 29 20.86 EHBP1L1 0 genome.wustl.edu 37 11 65348685 65348685 + Missense_Mutation SNP C C A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 11 65348685 65348685 C A SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known missense c.707 p.A236D 0.998 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 tier1 - - 15 0 0.00 17 36 67.92 56 0 0.00 41 79 65.83 SLC6A3 0 genome.wustl.edu 37 5 1432617 1432617 + Silent SNP G G A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 5 1432617 1432617 G A SNP SLC6A3 ENST00000270349 human ensembl 74_37 -1 known silent c.615 p.N205 0.989 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 tier1 - - 39 0 0.00 34 7 17.07 74 0 0.00 68 17 19.77 EHBP1L1 0 genome.wustl.edu 37 11 65348684 65348684 + Missense_Mutation SNP G G A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 11 65348684 65348684 G A SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known missense c.706 p.A236T 0.987 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 tier1 - - 14 0 0.00 18 37 67.27 56 0 0.00 42 79 65.29 KIAA1524 0 genome.wustl.edu 37 3 108273288 108273288 + Missense_Mutation SNP A A T TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 3 108273288 108273288 A T SNP KIAA1524 ENST00000295746 human ensembl 74_37 -1 known missense c.2259 p.D753E 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 tier1 - - 57 0 0.00 18 10 35.71 90 0 0.00 37 47 55.95 GRM3 0 genome.wustl.edu 37 7 86394618 86394618 + Missense_Mutation SNP G G A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 7 86394618 86394618 G A SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.157 p.G53R 1.000 superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 tier1 - - 30 0 0.00 17 13 43.33 119 0 0.00 69 66 48.53 MARK1 0 genome.wustl.edu 37 1 220825491 220825491 + Missense_Mutation SNP G G A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 1 220825491 220825491 G A SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known missense c.1735 p.G579S 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 tier1 - - 60 0 0.00 47 20 29.85 122 0 0.00 106 66 38.37 COL18A1 0 genome.wustl.edu 37 21 46909414 46909414 + Silent SNP G G A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 21 46909414 46909414 G A SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known silent c.3183 p.V1061 0.000 pfam_Collagen pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 tier1 - - 71 0 0.00 52 27 34.18 10 0 0.00 11 6 35.29 DCHS1 0 genome.wustl.edu 37 11 6651257 6651257 + Missense_Mutation SNP C C T TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 11 6651257 6651257 C T SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.4768 p.G1590S 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 tier1 - - 43 0 0.00 37 18 32.73 22 0 0.00 19 7 26.92 TRIM64B 0 genome.wustl.edu 37 11 89603886 89603886 + Missense_Mutation SNP C C G TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 11 89603886 89603886 C G SNP TRIM64B ENST00000329862 human ensembl 74_37 -1 known missense c.1253 p.S418T 0.277 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM64B HGNC ENSG00000189253 tier1 - - 244 0 0.00 387 41 9.58 74 0 0.00 160 18 10.11 CD244 0 genome.wustl.edu 37 1 160832438 160832438 + Silent SNP G G C TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 1 160832438 160832438 G C SNP CD244 ENST00000368033 human ensembl 74_37 -1 known silent c.30 p.L10 0.007 NULL pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like_dom - no_errors CD244 HGNC ENSG00000122223 tier1 - - 50 0 0.00 34 53 60.92 117 0 0.00 59 78 56.12 PIP 0 genome.wustl.edu 37 7 142829269 142829269 + Silent SNP C C T TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 7 142829269 142829269 C T SNP PIP ENST00000291009 human ensembl 74_37 +1 known silent c.60 p.C20 0.887 pfam_SV_autoAg,pirsf_SV_autoAg pfam_SV_autoAg,pirsf_SV_autoAg - no_errors PIP HGNC ENSG00000159763 tier1 - - 42 0 0.00 18 14 43.75 61 0 0.00 41 19 31.15 MYO10 0 genome.wustl.edu 37 5 16766285 16766285 + Missense_Mutation SNP T T G TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 5 16766285 16766285 T G SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.1083 p.L361F 0.998 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 tier1 - - 26 0 0.00 21 6 22.22 43 0 0.00 33 40 54.79 KDR 0 genome.wustl.edu 37 4 55981139 55981139 + Missense_Mutation SNP A A G TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 4 55981139 55981139 A G SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.560 p.I187T 0.901 smart_Ig_sub,prints_VEGFR2_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 tier1 - - 38 0 0.00 18 14 43.75 133 0 0.00 78 52 39.69 LOC100286922 0 genome.wustl.edu 37 2 234663608 234663608 + R SNP A A T TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 2 234663608 234663608 A T SNP LOC100286922 ENST00000450901 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC114812.5 Clone_based_vega_gene ENSG00000178836 tier1 - - 50 0 0.00 25 15 37.50 59 0 0.00 49 31 38.75 EFHC2 0 genome.wustl.edu 37 X 44008133 44008133 + Missense_Mutation SNP C C A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e X 44008133 44008133 C A SNP EFHC2 ENST00000420999 human ensembl 74_37 -1 known missense c.2158 p.D720Y 1.000 NULL pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom - no_errors EFHC2 HGNC ENSG00000183690 tier1 - - 65 0 0.00 27 31 53.45 179 0 0.00 91 103 53.09 KRTAP19-5 0 genome.wustl.edu 37 21 31874391 31874391 + Silent SNP G G A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 21 31874391 31874391 G A SNP KRTAP19-5 ENST00000334151 human ensembl 74_37 -1 known silent c.18 p.N6 0.353 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-5 HGNC ENSG00000186977 tier1 - - 126 0 0.00 46 47 50.54 49 0 0.00 38 20 34.48 HARS2 0 genome.wustl.edu 37 5 140073605 140073605 + Missense_Mutation SNP C C A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 5 140073605 140073605 C A SNP HARS2 ENST00000230771 human ensembl 74_37 +1 known missense c.269 p.A90E 1.000 pfam_aa-tR-synt_IIb_cons-dom,pirsf_HisRS/HisZ,pfscan_aa-tR-synth_II,tigrfam_His-tR-ligase pfam_aa-tR-synt_IIb_cons-dom,pfam_Anticodon-bd,superfamily_Anticodon-bd,pirsf_HisRS/HisZ,pfscan_aa-tR-synth_II,tigrfam_His-tR-ligase - no_errors HARS2 HGNC ENSG00000112855 tier1 - - 71 0 0.00 56 9 13.85 134 0 0.00 117 29 19.86 CYP11B2 0 genome.wustl.edu 37 8 143994865 143994865 + Silent SNP T T C TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 8 143994865 143994865 T C SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known silent c.957 p.T319 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 tier1 - - 60 0 0.00 33 21 38.89 4 0 0.00 11 7 38.89 FREM1 0 genome.wustl.edu 37 9 14842509 14842509 + Missense_Mutation SNP A A C TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 9 14842509 14842509 A C SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.1546 p.L516V 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 tier1 - - 36 0 0.00 25 12 32.43 115 0 0.00 75 50 40.00 KANSL1 0 genome.wustl.edu 37 17 44116420 44116420 + Nonsense_Mutation SNP G G A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 17 44116420 44116420 G A SNP KANSL1 ENST00000262419 human ensembl 74_37 -1 known nonsense c.2365 p.R789* 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 tier1 - - 73 0 0.00 35 32 47.76 94 0 0.00 69 55 44.00 SERPINB10 0 genome.wustl.edu 37 18 61587038 61587038 + Missense_Mutation SNP T T A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 18 61587038 61587038 T A SNP SERPINB10 ENST00000238508 human ensembl 74_37 +1 known missense c.389 p.M130K 0.999 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 tier1 - - 31 0 0.00 25 7 21.88 81 0 0.00 73 16 17.98 HOXC5 0 genome.wustl.edu 37 12 54426956 54426956 + Missense_Mutation SNP C C A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 12 54426956 54426956 C A SNP HOXC5 ENST00000312492 human ensembl 74_37 +1 known missense c.50 p.P17H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC5 HGNC ENSG00000172789 tier1 - - 49 0 0.00 33 24 42.11 73 0 0.00 35 39 52.70 EPHA3 0 genome.wustl.edu 37 3 89478261 89478261 + Missense_Mutation SNP C C A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 3 89478261 89478261 C A SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.2080 p.P694T 1.000 pirsf_Tyr_kinase_ephrin_rcpt,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 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 - - 49 0 0.00 19 9 32.14 81 0 0.00 74 18 19.57 FRYL 0 genome.wustl.edu 37 4 48551622 48551622 + Missense_Mutation SNP T T A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 4 48551622 48551622 T A SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.4652 p.Y1551F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 tier1 - - 35 0 0.00 22 7 24.14 77 0 0.00 22 15 40.54 PTCHD3 0 genome.wustl.edu 37 10 27702287 27702287 + Missense_Mutation SNP G G T TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 10 27702287 27702287 G T SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.893 p.T298N 0.255 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 tier1 - - 66 0 0.00 33 26 44.07 46 0 0.00 27 29 51.79 CX3CR1 0 genome.wustl.edu 37 3 39307683 39307683 + Silent SNP G G T TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 3 39307683 39307683 G T SNP CX3CR1 ENST00000358309 human ensembl 74_37 -1 known silent c.414 p.T138 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CX3CR1 HGNC ENSG00000168329 tier1 - - 25 0 0.00 12 8 40.00 108 0 0.00 88 31 26.05 GRM3 0 genome.wustl.edu 37 7 86394619 86394619 + Missense_Mutation SNP G G T TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 7 86394619 86394619 G T SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.158 p.G53V 1.000 superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 tier1 - - 29 0 0.00 17 13 43.33 120 0 0.00 68 66 48.89 PSME4 0 genome.wustl.edu 37 2 54152727 54152727 + Silent SNP C C T TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 2 54152727 54152727 C T SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known silent c.1758 p.L586 0.958 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 tier1 - - 86 0 0.00 31 26 45.61 159 0 0.00 76 64 45.71 LOC100128714 0 genome.wustl.edu 37 15 26260644 26260644 + R SNP C C T TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 15 26260644 26260644 C T SNP LOC100128714 ENST00000383019 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-1084I9.1 Clone_based_vega_gene ENSG00000206187 tier1 - - 40 0 0.00 21 20 48.78 68 0 0.00 31 23 42.59 KCNT2 0 genome.wustl.edu 37 1 196250098 196250098 + Silent SNP G G A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 1 196250098 196250098 G A SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known silent c.2802 p.D934 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 50 0 0.00 23 30 56.60 93 0 0.00 45 70 60.87 PPP3R2 0 genome.wustl.edu 37 9 104356954 104356954 + Missense_Mutation SNP C C G TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 9 104356954 104356954 C G SNP PPP3R2 ENST00000374806 human ensembl 74_37 -1 known missense c.259 p.V87L 1.000 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors PPP3R2 HGNC ENSG00000188386 tier1 - - 51 0 0.00 33 16 32.65 69 0 0.00 21 29 58.00 P1L3 0 genome.wustl.edu 37 X 92928275 92928275 + Missense_Mutation SNP G G A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e X 92928275 92928275 G A SNP P1L3 ENST00000373079 human ensembl 74_37 -1 known missense c.29 p.S10L 0.049 NULL pfam_P_family - no_errors P1L3 HGNC ENSG00000186310 tier1 - - 77 0 0.00 30 35 53.85 78 0 0.00 50 32 39.02 PTTG1 0 genome.wustl.edu 37 5 159854773 159854773 + Missense_Mutation SNP T T G TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 5 159854773 159854773 T G SNP PTTG1 ENST00000352433 human ensembl 74_37 +1 known missense c.422 p.L141W 1.000 pfam_Securin_separation_inhibitor pfam_Securin_separation_inhibitor - no_errors PTTG1 HGNC ENSG00000164611 tier1 - - 64 0 0.00 12 8 40.00 34 0 0.00 14 3 17.65 IGDCC4 0 genome.wustl.edu 37 15 65674297 65674297 + R SNP C C T TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 15 65674297 65674297 C T SNP IGDCC4 ENST00000558048 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors IGDCC4 HGNC ENSG00000103742 tier1 - - 22 0 0.00 14 9 39.13 141 0 0.00 71 66 48.18 V2 0 genome.wustl.edu 37 11 20070457 20070457 + Silent SNP C C A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 11 20070457 20070457 C A SNP V2 ENST00000396087 human ensembl 74_37 +1 known silent c.4155 p.L1385 0.999 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors V2 HGNC ENSG00000166833 tier1 - - 56 0 0.00 26 30 53.57 62 0 0.00 45 42 48.28 MALAT1 0 genome.wustl.edu 37 11 65269611 65269612 + R INS - - TTTCC TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 - - - TTTCC - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 11 65269611 65269612 - TTTCC INS MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 131 0 0.00 163 36 18.09 131 0 0.00 163 36 18.09 ARID1A 0 genome.wustl.edu 37 1 27097647 27097647 + Missense_Mutation SNP A A T TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 1 27097647 27097647 A T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.3236 p.N1079I 1.000 pfam_ARID/BRIGHT_D-bd,superfamily_ARID/BRIGHT_D-bd,smart_ARID/BRIGHT_D-bd,pfscan_ARID/BRIGHT_D-bd 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 ARID1A HGNC ENSG00000117713 tier1 - - 46 0 0.00 2 32 94.12 118 0 0.00 5 46 90.20 ARL4D 0 genome.wustl.edu 37 17 41477526 41477526 + Silent SNP A A G TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 17 41477526 41477526 A G SNP ARL4D ENST00000320033 human ensembl 74_37 +1 known silent c.426 p.A142 0.207 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL4D HGNC ENSG00000175906 tier1 - - 17 0 0.00 15 10 40.00 13 0 0.00 7 4 36.36 C14orf39 0 genome.wustl.edu 37 14 60950421 60950421 + Missense_Mutation SNP T T C TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 14 60950421 60950421 T C SNP C14orf39 ENST00000321731 human ensembl 74_37 -1 known missense c.221 p.D74G 0.996 NULL NULL - no_errors C14orf39 HGNC ENSG00000179008 tier1 - - 62 0 0.00 6 26 81.25 131 0 0.00 6 66 91.67 CD33 0 genome.wustl.edu 37 19 51729106 51729106 + Missense_Mutation SNP G G T TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 19 51729106 51729106 G T SNP CD33 ENST00000262262 human ensembl 74_37 +1 known missense c.466 p.G156C 0.004 pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD33 HGNC ENSG00000105383 tier1 - - 18 0 0.00 3 18 85.71 36 0 0.00 2 32 94.12 CLASRP 0 genome.wustl.edu 37 19 45561081 45561081 + Missense_Mutation SNP G G A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 19 45561081 45561081 G A SNP CLASRP ENST00000221455 human ensembl 74_37 +1 known missense c.538 p.E180K 0.983 NULL pfam_SWAP_N_domain - no_errors CLASRP HGNC ENSG00000104859 tier1 - - 35 0 0.00 6 15 71.43 72 0 0.00 2 34 87.18 CSMD2 0 genome.wustl.edu 37 1 34383726 34383726 + Missense_Mutation SNP C C G TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 1 34383726 34383726 C G SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.889 p.E297Q 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 32 0 0.00 1 19 95.00 96 0 0.00 3 52 94.55 GARNL3 0 genome.wustl.edu 37 9 130005414 130005414 + Missense_Mutation SNP G G A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 9 130005414 130005414 G A SNP GARNL3 ENST00000429629 human ensembl 74_37 +1 known missense c.29 p.G10E 1.000 NULL NULL - no_errors GARNL3 HGNC ENSG00000136895 tier1 - - 56 0 0.00 2 18 90.00 82 0 0.00 1 41 97.62 LRRC37A6P 0 genome.wustl.edu 37 10 27536666 27536666 + R SNP C C T TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 10 27536666 27536666 C T SNP LRRC37A6P ENST00000284414 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LRRC37A6P HGNC ENSG00000230445 tier1 - - 38 0 0.00 17 17 50.00 16 0 0.00 8 14 63.64 PTPN23 0 genome.wustl.edu 37 3 47452009 47452009 + Silent SNP G G A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 3 47452009 47452009 G A SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known silent c.2721 p.P907 0.066 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 tier1 rs150118207 - 9 0 0.00 5 5 50.00 8 0 0.00 9 6 27.27 SRRM1 0 genome.wustl.edu 37 1 24969812 24969812 + R SNP G G C TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 1 24969812 24969812 G C SNP SRRM1 ENST00000466910 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors SRRM1 HGNC ENSG00000133226 tier1 - - 52 0 0.00 6 19 76.00 23 0 0.00 1 7 87.50 CKAP5 0 genome.wustl.edu 37 11 46774244 46774244 + Missense_Mutation SNP G G A TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 11 46774244 46774244 G A SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known missense c.5074 p.L1692F 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 tier1 - - 29 0 0.00 10 7 41.18 122 2 1.61 72 53 42.06 BHLHA9 0 genome.wustl.edu 37 17 1174545 1174545 + Missense_Mutation SNP A A T TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 17 1174545 1174545 A T SNP BHLHA9 ENST00000391429 human ensembl 74_37 +1 known missense c.688 p.M230L 0.081 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHA9 HGNC ENSG00000205899 tier1 - - 29 0 0.00 9 8 47.06 0 0 0.00 0 0 0.00 CROCCP2 0 genome.wustl.edu 37 1 16952377 16952377 + R SNP C C T TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e 1 16952377 16952377 C T SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 tier1 rs9658928 - 92 0 0.00 52 5 8.77 0 0 0.00 3 0 0.00 ENSG00000221684 0 genome.wustl.edu 37 X 70979260 70979261 + R DEL GC GC - TCGA-K1-A42X-01A-11D-A24N-09 TCGA-K1-A42X-11A-11D-A24N-09 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 347468ce-6cf1-46ba-8d49-c9627f57b1b1 8bee70d0-af1d-40fb-9152-522822710a6e X 70979260 70979261 GC - DEL ENSG00000221684 ENST00000408757 human ensembl 74_37 -1 novel rna NULL NULL 0.000:0.000 - - - no_errors BX276092.1 Clone_based_ensembl_gene ENSG00000221684 tier1 27 0 0.00 19 5 20.83 0 0 0.00 1 0 0.00