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 TMEM131 0 genome.wustl.edu 37 2 98408981 98408981 + Missense_Mutation SNP C C T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 2 98408981 98408981 C T SNP TMEM131 ENST00000186436 human ensembl 74_37 -1 known missense c.4012 p.A1338T 0.078 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 tier1 - - 51 0 0.00 39 12 23.53 44 0 0.00 16 6 27.27 ATP8B1 0 genome.wustl.edu 37 18 55351329 55351329 + Missense_Mutation SNP T T G TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 18 55351329 55351329 T G SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known missense c.1569 p.E523D 0.979 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B1 HGNC ENSG00000081923 tier1 - - 37 0 0.00 38 12 24.00 105 0 0.00 92 17 15.32 CLUL1 0 genome.wustl.edu 37 18 627423 627423 + Missense_Mutation SNP C C A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 18 627423 627423 C A SNP CLUL1 ENST00000338387 human ensembl 74_37 +1 known missense c.750 p.N250K 0.026 pfam_Clusterin-like,smart_Clusterin_C pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLUL1 HGNC ENSG00000079101 tier1 - - 41 0 0.00 33 8 19.51 146 0 0.00 78 17 17.89 GHSR 0 genome.wustl.edu 37 3 172165433 172165433 + Missense_Mutation SNP G G T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 3 172165433 172165433 G T SNP GHSR ENST00000241256 human ensembl 74_37 -1 known missense c.771 p.N257K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn - no_errors GHSR HGNC ENSG00000121853 tier1 - - 58 0 0.00 38 50 56.82 65 0 0.00 43 24 35.82 ZFYVE28 0 genome.wustl.edu 37 4 2307170 2307170 + Silent SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 4 2307170 2307170 G A SNP ZFYVE28 ENST00000290974 human ensembl 74_37 -1 known silent c.897 p.D299 0.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 tier1 - - 47 0 0.00 37 11 22.92 31 0 0.00 16 5 23.81 MED13L 0 genome.wustl.edu 37 12 116413410 116413410 + Missense_Mutation SNP G G C TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 12 116413410 116413410 G C SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.5498 p.S1833C 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 tier1 - - 64 0 0.00 40 7 14.89 59 0 0.00 54 7 11.48 KLK4 0 genome.wustl.edu 37 19 51411893 51411893 + Silent SNP C C T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 19 51411893 51411893 C T SNP KLK4 ENST00000324041 human ensembl 74_37 -1 known silent c.417 p.S139 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK4 HGNC ENSG00000167749 tier1 - - 37 0 0.00 21 6 22.22 65 0 0.00 61 14 18.67 STXBP4 0 genome.wustl.edu 37 17 53237201 53237201 + Missense_Mutation SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 17 53237201 53237201 G A SNP STXBP4 ENST00000376352 human ensembl 74_37 +1 known missense c.1591 p.V531I 0.757 NULL pfam_WW_dom,pfam_PDZ,superfamily_PDZ,superfamily_WW_dom,smart_PDZ,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom - no_errors STXBP4 HGNC ENSG00000166263 tier1 - - 35 0 0.00 34 24 40.68 91 0 0.00 69 22 24.18 FAF1 0 genome.wustl.edu 37 1 51121153 51121153 + Silent SNP T T C TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 1 51121153 51121153 T C SNP FAF1 ENST00000371778 human ensembl 74_37 -1 known silent c.705 p.Q235 0.998 NULL pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 tier1 - - 69 0 0.00 53 24 31.17 130 0 0.00 86 43 33.33 ENSG00000211510 0 genome.wustl.edu 37 9 30774270 30774270 + R SNP A A T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 9 30774270 30774270 A T SNP ENSG00000211510 ENST00000390176 human ensembl 74_37 +1 novel rna NULL NULL 0.928 - - - no_errors AL590726.1 Clone_based_ensembl_gene ENSG00000211510 tier1 - - 37 0 0.00 39 8 17.02 45 0 0.00 30 6 16.67 RELA 0 genome.wustl.edu 37 11 65425869 65425869 + Missense_Mutation SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 11 65425869 65425869 G A SNP RELA ENST00000406246 human ensembl 74_37 -1 known missense c.766 p.P256S 1.000 superfamily_Ig_E-set,smart_IPT,prints_NF_Rel_Dor pfam_RHD,superfamily_p53-like_TF_D-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELA HGNC ENSG00000173039 tier1 - - 51 0 0.00 45 11 19.30 43 0 0.00 28 11 28.21 PRNP 0 genome.wustl.edu 37 20 4680309 4680309 + Missense_Mutation SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 20 4680309 4680309 G A SNP PRNP ENST00000379440 human ensembl 74_37 +1 known missense c.443 p.R148H 1.000 pfam_Prion/Doppel_prot_b-ribbon_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion - no_errors PRNP HGNC ENSG00000171867 tier1 rs181348299 GMAF=0.0005 41 0 0.00 33 4 10.81 105 0 0.00 79 12 13.19 LOC100505635 0 genome.wustl.edu 37 6 39865095 39865095 + R SNP T T C TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 6 39865095 39865095 T C SNP LOC100505635 ENST00000420293 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-61I13.3 Clone_based_vega_gene ENSG00000235033 tier1 - - 82 0 0.00 60 18 23.08 146 0 0.00 86 34 28.33 KIF22 0 genome.wustl.edu 37 16 29816457 29816457 + Missense_Mutation SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 16 29816457 29816457 G A SNP KIF22 ENST00000160827 human ensembl 74_37 +1 known missense c.1912 p.E638K 1.000 superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_D-bd_motif pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_D-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF22 HGNC ENSG00000079616 tier1 - - 50 0 0.00 46 6 11.54 96 0 0.00 51 7 12.07 MKI67 0 genome.wustl.edu 37 10 129903472 129903472 + Missense_Mutation SNP G G C TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 10 129903472 129903472 G C SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.6632 p.T2211R 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 tier1 - - 104 0 0.00 96 16 14.29 31 0 0.00 11 2 15.38 ZNF225 0 genome.wustl.edu 37 19 44635365 44635365 + Missense_Mutation SNP G G T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 19 44635365 44635365 G T SNP ZNF225 ENST00000262894 human ensembl 74_37 +1 known missense c.598 p.G200W 0.091 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF225 HGNC ENSG00000256294 tier1 - - 54 0 0.00 38 10 20.83 54 0 0.00 33 12 26.67 ZNF710 0 genome.wustl.edu 37 15 90611108 90611108 + Missense_Mutation SNP G G T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 15 90611108 90611108 G T SNP ZNF710 ENST00000268154 human ensembl 74_37 +1 known missense c.739 p.V247L 0.972 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 tier1 - - 144 0 0.00 111 15 11.90 50 0 0.00 31 4 11.43 UBE2I 0 genome.wustl.edu 37 16 1364372 1364372 + Missense_Mutation SNP A A G TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 16 1364372 1364372 A G SNP UBE2I ENST00000325437 human ensembl 74_37 +1 known missense c.145 p.K49E 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2I HGNC ENSG00000103275 tier1 - - 71 0 0.00 34 7 17.07 75 0 0.00 45 7 13.46 EMR1 0 genome.wustl.edu 37 19 6896476 6896476 + Silent SNP C C T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 19 6896476 6896476 C T SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known silent c.162 p.Y54 0.095 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,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 tier1 - - 86 0 0.00 50 8 13.79 104 0 0.00 81 10 10.99 DROSHA 0 genome.wustl.edu 37 5 31526295 31526295 + Missense_Mutation SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 5 31526295 31526295 G A SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known missense c.745 p.R249W 0.996 NULL pfam_RNase_III_dom,pfam_dsR-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsR-bd_dom,pfscan_dsR-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 tier1 - - 46 0 0.00 57 5 8.06 62 0 0.00 64 10 13.51 SNORD114-21 0 genome.wustl.edu 37 14 101448360 101448360 + R SNP C C T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 14 101448360 101448360 C T SNP SNORD114-21 ENST00000606412 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD114-21 HGNC ENSG00000272344 tier1 - - 86 0 0.00 72 26 26.53 87 0 0.00 55 10 15.38 SYNE1 0 genome.wustl.edu 37 6 152772193 152772193 + Missense_Mutation SNP T T G TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 6 152772193 152772193 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.3175 p.K1059Q 0.217 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 44 0 0.00 41 4 8.89 72 0 0.00 38 7 15.56 UNC45B 0 genome.wustl.edu 37 17 33477089 33477089 + Silent SNP C C T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 17 33477089 33477089 C T SNP UNC45B ENST00000268876 human ensembl 74_37 +1 known silent c.228 p.D76 1.000 superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC ENSG00000141161 tier1 - - 112 0 0.00 64 19 22.89 91 0 0.00 63 9 12.33 TOR1A 0 genome.wustl.edu 37 9 132584885 132584885 + Missense_Mutation SNP T T C TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 9 132584885 132584885 T C SNP TOR1A ENST00000351698 human ensembl 74_37 -1 known missense c.419 p.H140R 0.997 pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr - no_errors TOR1A HGNC ENSG00000136827 tier1 - - 81 0 0.00 69 11 13.75 156 0 0.00 110 18 14.06 EPHA6 0 genome.wustl.edu 37 3 97251225 97251225 + Missense_Mutation SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 3 97251225 97251225 G A SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.2224 p.G742R 1.000 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_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 tier1 - - 71 0 0.00 80 24 22.86 148 0 0.00 83 22 20.75 PIK3AP1 0 genome.wustl.edu 37 10 98412517 98412517 + Missense_Mutation SNP G G T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 10 98412517 98412517 G T SNP PIK3AP1 ENST00000339364 human ensembl 74_37 -1 known missense c.650 p.S217Y 0.589 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 tier1 - - 51 0 0.00 53 13 19.70 107 0 0.00 75 14 15.73 NRG2 0 genome.wustl.edu 37 5 139251347 139251347 + Silent SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 5 139251347 139251347 G A SNP NRG2 ENST00000545385 human ensembl 74_37 -1 known silent c.1071 p.G357 0.936 pfscan_EG-like_dom pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like_dom - no_errors NRG2 HGNC ENSG00000158458 tier1 - - 95 0 0.00 60 6 9.09 122 0 0.00 66 9 11.84 CDH7 0 genome.wustl.edu 37 18 63430124 63430124 + Missense_Mutation SNP G G T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 18 63430124 63430124 G T SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.46 p.A16S 0.994 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 tier1 - - 47 0 0.00 37 4 9.76 88 0 0.00 47 9 15.79 CAC1C 0 genome.wustl.edu 37 12 2786965 2786965 + Missense_Mutation SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 12 2786965 2786965 G A SNP CAC1C ENST00000399634 human ensembl 74_37 +1 known missense c.5023 p.A1675T 0.953 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CAC1C HGNC ENSG00000151067 tier1 - - 87 0 0.00 46 15 24.59 64 0 0.00 32 8 20.00 KC3 0 genome.wustl.edu 37 1 111215894 111215894 + Missense_Mutation SNP T T C TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 1 111215894 111215894 T C SNP KC3 ENST00000369769 human ensembl 74_37 -1 known missense c.1538 p.E513G 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KC3 HGNC ENSG00000177272 tier1 - - 52 0 0.00 40 12 23.08 99 0 0.00 82 26 24.07 TNFRSF9 0 genome.wustl.edu 37 1 7998781 7998781 + Missense_Mutation SNP C C T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 1 7998781 7998781 C T SNP TNFRSF9 ENST00000377507 human ensembl 74_37 -1 known missense c.208 p.G70S 1.000 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_9 - no_errors TNFRSF9 HGNC ENSG00000049249 tier1 - - 77 0 0.00 51 23 31.08 92 0 0.00 61 37 37.76 OR51D1 0 genome.wustl.edu 37 11 4661220 4661220 + Missense_Mutation SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 11 4661220 4661220 G A SNP OR51D1 ENST00000357605 human ensembl 74_37 +1 known missense c.200 p.R67Q 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51D1 HGNC ENSG00000197428 tier1 rs138099428 - 68 0 0.00 53 20 27.03 116 0 0.00 71 31 30.39 DST 0 genome.wustl.edu 37 6 56397194 56397194 + Missense_Mutation SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 6 56397194 56397194 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.16963 p.L5655F 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 76 0 0.00 68 11 13.92 100 0 0.00 60 11 15.49 SLC30A9 0 genome.wustl.edu 37 4 42003739 42003739 + Silent SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 4 42003739 42003739 G A SNP SLC30A9 ENST00000264451 human ensembl 74_37 +1 known silent c.216 p.Q72 1.000 NULL pfam_Cation_efflux,superfamily_D-bd_dom_put,tigrfam_Cation_efflux - no_errors SLC30A9 HGNC ENSG00000014824 tier1 - - 74 0 0.00 108 17 13.60 155 1 0.64 165 32 16.24 KY 0 genome.wustl.edu 37 3 134329079 134329079 + Missense_Mutation SNP C C A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 3 134329079 134329079 C A SNP KY ENST00000423778 human ensembl 74_37 -1 known missense c.857 p.G286V 1.000 NULL pfam_Transglutaminase-like,smart_Transglutaminase-like - no_errors KY HGNC ENSG00000174611 tier1 - - 52 0 0.00 55 6 9.84 51 0 0.00 31 7 18.42 DH8 0 genome.wustl.edu 37 6 38800097 38800097 + Splice_Site SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 6 38800097 38800097 G A SNP DH8 ENST00000359357 human ensembl 74_37 +1 known splice_site c.3538-1 e27-1 0.986 - - - no_errors DH8 HGNC ENSG00000124721 tier1 - - 80 0 0.00 87 11 11.22 157 0 0.00 92 13 12.38 KIF22 0 genome.wustl.edu 37 16 29815365 29815365 + Silent SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 16 29815365 29815365 G A SNP KIF22 ENST00000160827 human ensembl 74_37 +1 known silent c.1656 p.K552 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_D-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF22 HGNC ENSG00000079616 tier1 - - 24 0 0.00 18 3 14.29 76 0 0.00 62 10 13.89 MGAM 0 genome.wustl.edu 37 7 141708495 141708495 + Missense_Mutation SNP C C T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 7 141708495 141708495 C T SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.317 p.P106L 0.076 pfam_P_trefoil,smart_P_trefoil pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 - - 56 0 0.00 61 12 16.44 122 0 0.00 101 30 22.73 TUBB2B 0 genome.wustl.edu 37 6 3227775 3227775 + Missense_Mutation SNP C C A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 6 3227775 3227775 C A SNP TUBB2B ENST00000259818 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2B HGNC ENSG00000137285 tier1 - - 319 1 0.31 238 40 14.39 73 0 0.00 54 8 12.90 DHRS4-AS1 0 genome.wustl.edu 37 14 24410284 24410284 + R SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 14 24410284 24410284 G A SNP DHRS4-AS1 ENST00000555045 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors DHRS4-AS1 HGNC ENSG00000215256 tier1 - - 81 0 0.00 55 5 8.33 161 0 0.00 99 18 15.25 OR4Q3 0 genome.wustl.edu 37 14 20215944 20215944 + Missense_Mutation SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 14 20215944 20215944 G A SNP OR4Q3 ENST00000331723 human ensembl 74_37 +1 known missense c.358 p.A120T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4Q3 HGNC ENSG00000182652 tier1 - - 118 0 0.00 118 12 9.23 165 0 0.00 103 14 11.86 RYR1 0 genome.wustl.edu 37 19 39077992 39077992 + Nonsense_Mutation SNP G G T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 19 39077992 39077992 G T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known nonsense c.15049 p.E5017* 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 48 0 0.00 48 9 15.79 86 0 0.00 73 11 13.10 HMHA1 0 genome.wustl.edu 37 19 1080092 1080092 + Missense_Mutation SNP G G C TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 19 1080092 1080092 G C SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known missense c.1678 p.E560Q 0.987 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 tier1 - - 90 0 0.00 109 23 17.42 24 0 0.00 35 7 16.67 C2CD5 0 genome.wustl.edu 37 12 22610069 22610069 + Missense_Mutation SNP C C T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 12 22610069 22610069 C T SNP C2CD5 ENST00000333957 human ensembl 74_37 -1 known missense c.2560 p.V854M 0.014 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors C2CD5 HGNC ENSG00000111731 tier1 - - 75 0 0.00 56 16 22.22 155 0 0.00 101 39 27.86 IDH3G 0 genome.wustl.edu 37 X 153055183 153055183 + Missense_Mutation SNP G G T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 X 153055183 153055183 G T SNP IDH3G ENST00000217901 human ensembl 74_37 -1 known missense c.330 p.N110K 1.000 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_D pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_D - no_errors IDH3G HGNC ENSG00000067829 tier1 - - 50 0 0.00 32 7 17.95 63 1 1.56 46 6 11.54 SLC34A2 0 genome.wustl.edu 37 4 25667869 25667869 + Missense_Mutation SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 4 25667869 25667869 G A SNP SLC34A2 ENST00000382051 human ensembl 74_37 +1 known missense c.499 p.V167I 0.988 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 tier1 - - 55 0 0.00 56 5 8.20 67 0 0.00 54 6 10.00 OR2L8 0 genome.wustl.edu 37 1 248112446 248112446 + Missense_Mutation SNP G G T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 1 248112446 248112446 G T SNP OR2L8 ENST00000357191 human ensembl 74_37 +1 known missense c.287 p.C96F 0.988 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,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 OR2L8 HGNC ENSG00000196936 tier1 - - 132 0 0.00 112 27 19.42 77 0 0.00 56 12 17.65 NCBP2 0 genome.wustl.edu 37 3 196664064 196664064 + R DEL A A - TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 3 196664064 196664064 A - DEL NCBP2 ENST00000467803 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors NCBP2 HGNC ENSG00000114503 tier1 30 0 0.00 46 6 11.54 92 0 0.00 120 18 13.04 SALL3 0 genome.wustl.edu 37 18 76754525 76754525 + Missense_Mutation SNP A A G TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 18 76754525 76754525 A G SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.2534 p.N845S 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 tier1 - - 41 0 0.00 24 7 22.58 24 0 0.00 6 3 33.33 RGS18 0 genome.wustl.edu 37 1 192127772 192127772 + Missense_Mutation SNP A A G TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 1 192127772 192127772 A G SNP RGS18 ENST00000367460 human ensembl 74_37 +1 known missense c.5 p.E2G 0.997 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS18 HGNC ENSG00000150681 tier1 - - 47 0 0.00 42 5 10.64 133 0 0.00 100 5 4.76 CSPG4 0 genome.wustl.edu 37 15 75982625 75982625 + Missense_Mutation SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 15 75982625 75982625 G A SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.781 p.R261W 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 tier1 - - 92 0 0.00 89 9 9.18 67 0 0.00 64 6 8.57 TTLL6 0 genome.wustl.edu 37 17 46876980 46876980 + Silent SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 17 46876980 46876980 G A SNP TTLL6 ENST00000393382 human ensembl 74_37 -1 known silent c.754 p.L252 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL6 HGNC ENSG00000170703 tier1 - - 91 0 0.00 67 27 28.72 138 1 0.72 131 11 7.75 RORC 0 genome.wustl.edu 37 1 151779974 151779974 + Missense_Mutation SNP C C T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 1 151779974 151779974 C T SNP RORC ENST00000392697 human ensembl 74_37 -1 known missense c.1693 p.E565K 0.280 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt - no_errors RORC HGNC ENSG00000143365 tier1 - - 91 0 0.00 51 6 10.53 107 0 0.00 93 8 7.92 CAPN13 0 genome.wustl.edu 37 2 30954221 30954221 + Missense_Mutation SNP T T C TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 2 30954221 30954221 T C SNP CAPN13 ENST00000295055 human ensembl 74_37 -1 known missense c.1972 p.T658A 0.999 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC ENSG00000162949 tier1 - - 61 0 0.00 42 8 16.00 101 0 0.00 85 7 7.61 PDE3A 0 genome.wustl.edu 37 12 20833347 20833347 + R SNP G G T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 12 20833347 20833347 G T SNP PDE3A ENST00000544307 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors PDE3A HGNC ENSG00000172572 tier1 - - 95 0 0.00 64 7 9.86 176 0 0.00 115 12 9.45 LAMA3 0 genome.wustl.edu 37 18 21427505 21427505 + Missense_Mutation SNP T T A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 18 21427505 21427505 T A SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.4009 p.C1337S 1.000 smart_EGF_laminin pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 tier1 - - 64 0 0.00 90 14 13.46 21 0 0.00 64 4 5.88 ZBED1 0 genome.wustl.edu 37 X 2408604 2408604 + Nonsense_Mutation SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 X 2408604 2408604 G A SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known nonsense c.157 p.Q53* 1.000 pfam_Znf_BED_prd,smart_Znf_BED_prd,pfscan_Znf_BED_prd pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 tier1 - - 200 0 0.00 92 29 23.97 141 0 0.00 63 6 8.70 SLMAP 0 genome.wustl.edu 37 3 57894866 57894866 + Missense_Mutation SNP A A G TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 3 57894866 57894866 A G SNP SLMAP ENST00000428312 human ensembl 74_37 +1 known missense c.1637 p.Q546R 1.000 pfam_PFD_beta-like,superfamily_Prefoldin pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom - no_errors SLMAP HGNC ENSG00000163681 tier1 - - 110 0 0.00 123 12 8.89 127 0 0.00 122 12 8.96 SELV 0 genome.wustl.edu 37 19 40009544 40009544 + Missense_Mutation SNP A A G TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 19 40009544 40009544 A G SNP SELV ENST00000423711 human ensembl 74_37 +1 known missense c.890 p.E297G 0.985 pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ - no_errors SELV Uniprot_gn ENSG00000186838 tier1 - - 37 0 0.00 32 10 23.81 87 0 0.00 81 6 6.90 CLEC4F 0 genome.wustl.edu 37 2 71043556 71043556 + Silent SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 2 71043556 71043556 G A SNP CLEC4F ENST00000272367 human ensembl 74_37 -1 known silent c.957 p.F319 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC ENSG00000152672 tier1 - - 46 0 0.00 41 4 8.89 153 0 0.00 92 9 8.82 ADPGK 0 genome.wustl.edu 37 15 73044752 73044752 + Missense_Mutation SNP C C A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 15 73044752 73044752 C A SNP ADPGK ENST00000311669 human ensembl 74_37 -1 known missense c.1421 p.R474L 1.000 pfam_ADP_PFK/GK pfam_ADP_PFK/GK - no_errors ADPGK HGNC ENSG00000159322 tier1 - - 50 0 0.00 61 7 10.29 142 0 0.00 121 9 6.92 CPVL 0 genome.wustl.edu 37 7 29160601 29160601 + Missense_Mutation SNP G G C TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 7 29160601 29160601 G C SNP CPVL ENST00000265394 human ensembl 74_37 -1 known missense c.77 p.S26C 0.005 NULL pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CPVL HGNC ENSG00000106066 tier1 - - 66 0 0.00 52 9 14.75 107 0 0.00 124 10 7.46 LTN1 0 genome.wustl.edu 37 21 30316157 30316157 + Missense_Mutation SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 21 30316157 30316157 G A SNP LTN1 ENST00000389194 human ensembl 74_37 -1 known missense c.4190 p.T1397M 0.891 NULL pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 tier1 - - 67 0 0.00 77 9 10.47 105 0 0.00 80 7 8.05 SOX12 0 genome.wustl.edu 37 20 307338 307338 + Missense_Mutation SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 20 307338 307338 G A SNP SOX12 ENST00000342665 human ensembl 74_37 +1 known missense c.770 p.R257K 1.000 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX12 HGNC ENSG00000177732 tier1 - - 33 0 0.00 28 4 12.50 8 0 0.00 0 0 0.00 ENSG00000215941 0 genome.wustl.edu 37 3 38948822 38948843 + R DEL TGTGTGTGTGTGTATATATCTA TGTGTGTGTGTGTATATATCTA - TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 TGTGTGTGTGTGTATATATCTA TGTGTGTGTGTGTATATATCTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 3 38948822 38948843 TGTGTGTGTGTGTATATATCTA - DEL ENSG00000215941 ENST00000401122 human ensembl 74_37 +1 novel rna NULL NULL 0.193:0.195:0.137:0.126:0.125:0.119:0.107:0.069:0.062:0.049:0.028:0.020:0.007:0.002:0.001:0.001:0.002:0.002:0.002:0.001:0.001:0.001 - - - no_errors AC116038.1 Clone_based_ensembl_gene ENSG00000215941 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000221388 0 genome.wustl.edu 37 2 213628297 213628298 + R INS - - TATATA TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 2 213628297 213628298 - TATATA INS ENSG00000221388 ENST00000408461 human ensembl 74_37 -1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC093865.1 Clone_based_ensembl_gene ENSG00000221388 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 JUNB 0 genome.wustl.edu 37 19 12902946 12902954 + In_Frame_Del DEL GCAGGGGGC GCAGGGGGC - TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 GCAGGGGGC GCAGGGGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 19 12902946 12902954 GCAGGGGGC - DEL JUNB ENST00000302754 human ensembl 74_37 +1 known in_frame_del c.361_369 p.AGG124in_frame_del 0.966:0.969:0.937:0.987:0.990:0.985:0.851:0.799:0.762 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_TF_D-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUNB HGNC ENSG00000171223 tier1 3 0 0.00 2 0 0.00 3 0 0.00 2 0 0.00 LINC00266-1 0 genome.wustl.edu 37 20 62934863 62934864 + R INS - - TT TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 20 62934863 62934864 - TT INS LINC00266-1 ENST00000279067 human ensembl 74_37 +1 known rna NULL NULL 0.448:0.498 - - - no_errors LINC00266-1 HGNC ENSG00000149656 tier1 40 0 0.00 41 7 14.58 0 0 0.00 0 0 0.00 PABPN1 0 genome.wustl.edu 37 14 23790681 23790683 + In_Frame_Del DEL GGC GGC - TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 14 23790681 23790683 GGC - DEL PABPN1 ENST00000216727 human ensembl 74_37 +1 known in_frame_del c.3_5 p.A5in_frame_del 1.000:1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PABPN1 HGNC ENSG00000100836 tier1 36 0 0.00 29 3 9.38 0 0 0.00 1 0 0.00 PLBD1 0 genome.wustl.edu 37 12 14720555 14720557 + In_Frame_Del DEL GCA GCA - TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 12 14720555 14720557 GCA - DEL PLBD1 ENST00000240617 human ensembl 74_37 -1 known in_frame_del c.76_74 p.L25in_frame_del 0.009:0.005:0.008 NULL pfam_PLipase_B-like - no_errors PLBD1 HGNC ENSG00000121316 tier1 10 0 0.00 7 3 30.00 1 0 0.00 0 0 0.00 RBM47 0 genome.wustl.edu 37 4 40440825 40440825 + Missense_Mutation SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 4 40440825 40440825 G A SNP RBM47 ENST00000295971 human ensembl 74_37 -1 known missense c.86 p.A29V 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 tier1 - - 44 0 0.00 34 9 20.93 0 0 0.00 0 0 0.00 STK25 0 genome.wustl.edu 37 2 242447504 242447504 + R DEL G G - TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 2 242447504 242447504 G - DEL STK25 ENST00000436917 human ensembl 74_37 -1 known rna NULL NULL 0.252 - - - no_errors STK25 HGNC ENSG00000115694 tier1 114 0 0.00 51 9 15.00 2 0 0.00 4 0 0.00 IF1 0 genome.wustl.edu 37 9 130825710 130825710 + Missense_Mutation SNP C C G TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 9 130825710 130825710 C G SNP IF1 ENST00000373078 human ensembl 74_37 -1 known missense c.981 p.Q327H 0.998 NULL NULL - no_errors IF1 HGNC ENSG00000171169 tier1 - - 53 0 0.00 32 7 17.95 62 0 0.00 40 3 6.98 ATP2B2 0 genome.wustl.edu 37 3 10370153 10370153 + R SNP G G A TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 3 10370153 10370153 G A SNP ATP2B2 ENST00000467702 human ensembl 74_37 -1 known rna NULL NULL 0.141 - - - no_errors ATP2B2 HGNC ENSG00000157087 tier1 - - 138 0 0.00 93 18 16.22 56 0 0.00 75 2 2.60 FLT4 0 genome.wustl.edu 37 5 180030333 180030333 + Silent SNP C C G TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 5 180030333 180030333 C G SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known silent c.3951 p.G1317 0.144 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-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_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 tier1 - - 116 0 0.00 77 15 16.13 41 0 0.00 35 2 5.41 TECPR1 0 genome.wustl.edu 37 7 97860661 97860661 + Missense_Mutation SNP C C T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 7 97860661 97860661 C T SNP TECPR1 ENST00000379795 human ensembl 74_37 -1 known missense c.2002 p.V668M 1.000 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 tier1 - - 70 0 0.00 48 10 17.24 68 0 0.00 34 2 5.56 NIPBL 0 genome.wustl.edu 37 5 36995692 36995693 + R INS - - T TCGA-DX-AB2Z-01A-11D-A387-09 TCGA-DX-AB2Z-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24690075-90d4-4ca2-89da-feff903d6810 3c1d12e0-8846-46c2-86ba-a6ef01cbf595 5 36995692 36995693 - T INS NIPBL ENST00000503274 human ensembl 74_37 +1 known rna NULL NULL 0.869:0.879 - - - no_errors NIPBL HGNC ENSG00000164190 tier1 25 0 0.00 44 5 10.20 54 0 0.00 68 2 2.86