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 SLC26A10 0 genome.wustl.edu 37 12 58019389 58019389 + Missense_Mutation SNP G G T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 12 58019389 58019389 G T SNP SLC26A10 ENST00000320442 human ensembl 74_37 +1 known missense c.1553 p.R518L 0.805 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A10 HGNC ENSG00000135502 tier1 - - 53 0 0.00 22 14 38.89 PMFBP1 0 genome.wustl.edu 37 16 72162648 72162648 + Silent SNP G G T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 16 72162648 72162648 G T SNP PMFBP1 ENST00000537465 human ensembl 74_37 -1 known silent c.2011 p.R671 0.043 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 tier1 - - 58 0 0.00 27 3 9.38 ENSG00000216004 0 genome.wustl.edu 37 10 72975564 72975573 + R DEL GTGTGTGTGT GTGTGTGTGT - TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 GTGTGTGTGT GTGTGTGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 10 72975564 72975573 GTGTGTGTGT - DEL ENSG00000216004 ENST00000401185 human ensembl 74_37 +1 novel rna NULL NULL 0.024:0.453:0.476:0.522:0.594:0.095:0.090:0.011:0.001:0.001 - - - no_errors AL359832.1 Clone_based_ensembl_gene ENSG00000216004 tier1 ALOX12B 0 genome.wustl.edu 37 17 7984275 7984275 + Missense_Mutation SNP C C A TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 17 7984275 7984275 C A SNP ALOX12B ENST00000319144 human ensembl 74_37 -1 known missense c.454 p.G152C 0.994 superfamily_LipOase_C,prints_LipOase_mml pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 tier1 - - 76 0 0.00 7 16 69.57 ENSG00000233434 0 genome.wustl.edu 37 9 67925135 67925135 + Missense_Mutation SNP A A G TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 9 67925135 67925135 A G SNP ENSG00000233434 ENST00000543078 human ensembl 74_37 -1 novel missense c.76 p.C26R 0.106 NULL NULL - no_errors BX649567.1 Clone_based_ensembl_gene ENSG00000233434 tier1 - - 13 0 0.00 11 4 26.67 ASH1L 0 genome.wustl.edu 37 1 155448260 155448260 + Silent SNP G G A TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 1 155448260 155448260 G A SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known silent c.4401 p.P1467 0.994 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_D-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 tier1 - - 60 0 0.00 42 17 28.33 SAMM50 0 genome.wustl.edu 37 22 44377307 44377307 + Missense_Mutation SNP C C T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 22 44377307 44377307 C T SNP SAMM50 ENST00000350028 human ensembl 74_37 +1 known missense c.973 p.P325S 0.999 pfam_Bac_surfAg_D15 pfam_Bac_surfAg_D15 - no_errors SAMM50 HGNC ENSG00000100347 tier1 - - 70 0 0.00 33 4 10.81 TICAM1 0 genome.wustl.edu 37 19 4817152 4817152 + Missense_Mutation SNP C C A TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 19 4817152 4817152 C A SNP TICAM1 ENST00000248244 human ensembl 74_37 -1 known missense c.1238 p.R413L 0.746 superfamily_TIR_dom,pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 tier1 - - 60 0 0.00 41 14 25.45 ADAM3A 0 genome.wustl.edu 37 8 39370106 39370106 + R SNP T T C TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 8 39370106 39370106 T C SNP ADAM3A ENST00000460383 human ensembl 74_37 -1 known rna NULL NULL 0.060 - - - no_errors ADAM3A HGNC ENSG00000197475 tier1 - - 20 0 0.00 13 6 31.58 PLAU 0 genome.wustl.edu 37 10 75674654 75674654 + Missense_Mutation SNP G G T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 10 75674654 75674654 G T SNP PLAU ENST00000372764 human ensembl 74_37 +1 known missense c.950 p.G317V 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PLAU HGNC ENSG00000122861 tier1 - - 50 0 0.00 18 3 14.29 THAP5 0 genome.wustl.edu 37 7 108204958 108204958 + Missense_Mutation SNP T T C TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 7 108204958 108204958 T C SNP THAP5 ENST00000415914 human ensembl 74_37 -1 known missense c.865 p.I289V 0.155 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP5 HGNC ENSG00000177683 tier1 - - 83 0 0.00 47 27 36.49 CTDSPL2 0 genome.wustl.edu 37 15 44791989 44791989 + Missense_Mutation SNP T T C TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 15 44791989 44791989 T C SNP CTDSPL2 ENST00000260327 human ensembl 74_37 +1 known missense c.947 p.L316P 1.000 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSPL2 HGNC ENSG00000137770 tier1 - - 48 0 0.00 28 4 12.50 HCLS1 0 genome.wustl.edu 37 3 121361875 121361875 + R SNP T T C TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 3 121361875 121361875 T C SNP HCLS1 ENST00000473883 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HCLS1 HGNC ENSG00000180353 tier1 - - 66 0 0.00 22 32 59.26 SNORD116-27 0 genome.wustl.edu 37 15 25346762 25346762 + R SNP A A G TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 15 25346762 25346762 A G SNP SNORD116-27 ENST00000516087 human ensembl 74_37 +1 known rna NULL NULL 0.019 - - - no_errors SNORD116-27 HGNC ENSG00000251896 tier1 - - 47 0 0.00 36 4 10.00 P4HA3 0 genome.wustl.edu 37 11 73990432 73990432 + Splice_Site SNP C C T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 11 73990432 73990432 C T SNP P4HA3 ENST00000331597 human ensembl 74_37 -1 known splice_site c.1175+1 e8+1 1.000 - - - no_errors P4HA3 HGNC ENSG00000149380 tier1 - - 57 0 0.00 23 13 36.11 CLU 0 genome.wustl.edu 37 8 27468062 27468062 + Silent SNP C C A TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 8 27468062 27468062 C A SNP CLU ENST00000560366 human ensembl 74_37 -1 known silent c.183 p.V61 0.999 pfam_Clusterin-like pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLU HGNC ENSG00000120885 tier1 - - 65 0 0.00 41 27 39.71 NLRP9 0 genome.wustl.edu 37 19 56249610 56249610 + Missense_Mutation SNP C C A TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 19 56249610 56249610 C A SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.131 p.W44L 0.929 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 tier1 - - 69 0 0.00 18 34 65.38 FSIP2 0 genome.wustl.edu 37 2 186627948 186627948 + Missense_Mutation SNP G G T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 2 186627948 186627948 G T SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.1546 p.A516S 0.016 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 38 0 0.00 45 4 8.16 OR2T12 0 genome.wustl.edu 37 1 248458735 248458735 + Nonsense_Mutation SNP C C T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 1 248458735 248458735 C T SNP OR2T12 ENST00000317996 human ensembl 74_37 -1 known nonsense c.146 p.W49* 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 OR2T12 HGNC ENSG00000177201 tier1 - - 37 0 0.00 37 16 30.19 RYR3 0 genome.wustl.edu 37 15 34042401 34042401 + Silent SNP C C A TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 15 34042401 34042401 C A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.8313 p.T2771 0.993 pfam_Ryanodine_rcpt,superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 42 0 0.00 34 4 10.53 ZNF271 0 genome.wustl.edu 37 18 32888074 32888074 + R SNP T T A TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 18 32888074 32888074 T A SNP ZNF271 ENST00000399070 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors ZNF271 HGNC ENSG00000257267 tier1 - - 46 0 0.00 47 5 9.62 CAGE1 0 genome.wustl.edu 37 6 7365794 7365794 + Silent SNP A A G TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 6 7365794 7365794 A G SNP CAGE1 ENST00000338150 human ensembl 74_37 -1 known silent c.2100 p.D700 0.013 NULL NULL - no_errors CAGE1 HGNC ENSG00000164304 tier1 - - 69 0 0.00 23 19 45.24 ALDH1A3 0 genome.wustl.edu 37 15 101425559 101425559 + Missense_Mutation SNP G G T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 15 101425559 101425559 G T SNP ALDH1A3 ENST00000329841 human ensembl 74_37 +1 known missense c.187 p.V63L 0.995 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 tier1 - - 39 0 0.00 25 13 33.33 TRAF2 0 genome.wustl.edu 37 9 139815618 139815618 + Missense_Mutation SNP G G T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 9 139815618 139815618 G T SNP TRAF2 ENST00000359662 human ensembl 74_37 +1 known missense c.1245 p.R415S 0.996 superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF2 HGNC ENSG00000127191 tier1 - - 56 0 0.00 36 4 10.00 MUC2 0 genome.wustl.edu 37 11 1080568 1080568 + Missense_Mutation SNP G G C TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 11 1080568 1080568 G C SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.1210 p.G404R 1.000 pfam_VWF_type-D,smart_VWC_out,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 tier1 - - 17 0 0.00 4 10 71.43 DIS3 0 genome.wustl.edu 37 13 73345952 73345952 + Missense_Mutation SNP G G T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 13 73345952 73345952 G T SNP DIS3 ENST00000377767 human ensembl 74_37 -1 known missense c.1586 p.T529N 1.000 NULL smart_PIN_dom - no_errors DIS3 HGNC ENSG00000083520 tier1 - - 43 0 0.00 12 4 25.00 GABRA2 0 genome.wustl.edu 37 4 46252509 46252509 + Missense_Mutation SNP G G A TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 4 46252509 46252509 G A SNP GABRA2 ENST00000540012 human ensembl 74_37 -1 known missense c.1187 p.A396V 0.995 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAa2_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 tier1 - - 60 0 0.00 34 4 10.53 P1L6 0 genome.wustl.edu 37 X 72347614 72347614 + Silent SNP G G A TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 X 72347614 72347614 G A SNP P1L6 ENST00000373518 human ensembl 74_37 -1 known silent c.108 p.D36 0.000 NULL pfam_P_family - no_errors P1L6 HGNC ENSG00000204118 tier1 - - 157 0 0.00 80 65 44.83 PGLYRP3 0 genome.wustl.edu 37 1 153283134 153283134 + Missense_Mutation SNP G G A TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 1 153283134 153283134 G A SNP PGLYRP3 ENST00000290722 human ensembl 74_37 -1 known missense c.8 p.T3M 0.128 NULL pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP3 HGNC ENSG00000159527 tier1 rs79228057 GMAF=0.0005 33 0 0.00 18 14 43.75 NIPAL3 0 genome.wustl.edu 37 1 24779930 24779930 + Silent SNP C C T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 1 24779930 24779930 C T SNP NIPAL3 ENST00000374399 human ensembl 74_37 +1 known silent c.573 p.L191 0.970 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL3 HGNC ENSG00000001461 tier1 - - 34 0 0.00 20 10 33.33 HOOK2 0 genome.wustl.edu 37 19 12874565 12874565 + Silent SNP G G T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 19 12874565 12874565 G T SNP HOOK2 ENST00000397668 human ensembl 74_37 -1 known silent c.1855 p.R619 0.632 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 tier1 - - 29 0 0.00 16 3 15.79 AR 0 genome.wustl.edu 37 X 66765229 66765229 + Missense_Mutation SNP G G C TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 X 66765229 66765229 G C SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.241 p.E81Q 0.001 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,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,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 tier1 - - 49 0 0.00 35 7 16.28 RB1 0 genome.wustl.edu 37 13 48955526 48955550 + Frame_Shift_Del DEL AAACATTTAGAACGATGTGAACATC AAACATTTAGAACGATGTGAACATC - TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 AAACATTTAGAACGATGTGAACATC AAACATTTAGAACGATGTGAACATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 13 48955526 48955550 AAACATTTAGAACGATGTGAACATC - DEL RB1 ENST00000267163 human ensembl 74_37 +1 known frame_shift_del c.1642_1666 p.K548fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_RB_A,superfamily_Cyclin-like pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 ANKRD44 0 genome.wustl.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 2 197943383 197943384 TG - DEL ANKRD44 ENST00000409153 human ensembl 74_37 -1 known frame_shift_del c.1694_1693 p.H565fs 0.001:0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 tier1 34 0 0.00 31 4 11.43 CARM1P1 0 genome.wustl.edu 37 9 2921838 2921838 + R SNP C C T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 9 2921838 2921838 C T SNP CARM1P1 ENST00000497195 human ensembl 74_37 -1 known rna NULL NULL 0.938 - - - no_errors CARM1P1 HGNC ENSG00000227835 tier1 - - 36 0 0.00 29 4 12.12 MACF1 0 genome.wustl.edu 37 1 39888445 39888445 + Missense_Mutation SNP G G C TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 1 39888445 39888445 G C SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.9836 p.C3279S 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 47 0 0.00 25 12 32.43 ARHGAP21 0 genome.wustl.edu 37 10 24959220 24959220 + Missense_Mutation SNP G G T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 10 24959220 24959220 G T SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known missense c.170 p.S57Y 1.000 superfamily_PDZ,pfscan_PDZ pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 tier1 - - 58 0 0.00 33 4 10.81 LRP2 0 genome.wustl.edu 37 2 170003437 170003437 + Missense_Mutation SNP G G T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 2 170003437 170003437 G T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.12623 p.P4208H 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 65 0 0.00 44 12 21.43 MTERFD1 0 genome.wustl.edu 37 8 97258655 97258655 + Missense_Mutation SNP G G T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 8 97258655 97258655 G T SNP MTERFD1 ENST00000287025 human ensembl 74_37 -1 known missense c.705 p.F235L 1.000 pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD1 HGNC ENSG00000156469 tier1 - - 71 0 0.00 36 4 10.00 R3HDM2 0 genome.wustl.edu 37 12 57674222 57674222 + Silent SNP C C T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 12 57674222 57674222 C T SNP R3HDM2 ENST00000347140 human ensembl 74_37 -1 known silent c.1221 p.Q407 0.991 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM2 HGNC ENSG00000179912 tier1 - - 37 0 0.00 41 4 8.89 ENSG00000240253 0 genome.wustl.edu 37 2 131453966 131453966 + R DEL C C - TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 2 131453966 131453966 C - DEL ENSG00000240253 ENST00000425151 human ensembl 74_37 +1 known rna NULL NULL 0.422 - - - no_errors AC140481.7 Clone_based_vega_gene ENSG00000240253 tier1 27 0 0.00 13 4 23.53 SLC6A6 0 genome.wustl.edu 37 3 14487301 14487301 + Silent SNP C C G TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 3 14487301 14487301 C G SNP SLC6A6 ENST00000360861 human ensembl 74_37 +1 known silent c.306 p.G102 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine - no_errors SLC6A6 HGNC ENSG00000131389 tier1 - - 58 0 0.00 46 54 54.00 TTC3 0 genome.wustl.edu 37 21 38563714 38563714 + Nonsense_Mutation SNP G G T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 21 38563714 38563714 G T SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known nonsense c.5104 p.E1702* 0.839 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 tier1 - - 34 0 0.00 16 3 15.79 MAGEC1 0 genome.wustl.edu 37 X 140996392 140996392 + Missense_Mutation SNP G G A TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 X 140996392 140996392 G A SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.3202 p.E1068K 0.003 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 rs199683263 GMAF=0 60 0 0.00 19 17 47.22 HMGN5 0 genome.wustl.edu 37 X 80377176 80377176 + R DEL A A - TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 X 80377176 80377176 A - DEL HMGN5 ENST00000491275 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HMGN5 HGNC ENSG00000198157 tier1 17 0 0.00 7 5 41.67 LINC00959 0 genome.wustl.edu 37 10 131877888 131877888 + R SNP G G T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 10 131877888 131877888 G T SNP LINC00959 ENST00000456581 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00959 HGNC ENSG00000237489 tier1 - - 28 0 0.00 17 3 15.00 DDX50 0 genome.wustl.edu 37 10 70670138 70670138 + Missense_Mutation SNP G G T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 10 70670138 70670138 G T SNP DDX50 ENST00000373585 human ensembl 74_37 +1 known missense c.460 p.G154C 1.000 superfamily_P-loop_NTPase pfam_D/R_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX50 HGNC ENSG00000107625 tier1 - - 66 0 0.00 21 4 15.38 GPR158 0 genome.wustl.edu 37 10 25878034 25878034 + Missense_Mutation SNP C C G TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 10 25878034 25878034 C G SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.1852 p.H618D 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 71 0 0.00 34 4 10.53 EDNRA 0 genome.wustl.edu 37 4 148463682 148463682 + Missense_Mutation SNP C C T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 4 148463682 148463682 C T SNP EDNRA ENST00000324300 human ensembl 74_37 +1 known missense c.1196 p.P399L 1.000 prints_ETA_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn - no_errors EDNRA HGNC ENSG00000151617 tier1 - - 32 0 0.00 19 3 13.64 PPP2R2B 0 genome.wustl.edu 37 5 146258290 146258291 + R INS - - GCTGCTGCTGCT TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 5 146258290 146258291 - GCTGCTGCTGCT INS PPP2R2B ENST00000530902 human ensembl 74_37 -1 known rna NULL NULL 0.975:0.996 - - - no_errors PPP2R2B HGNC ENSG00000156475 tier1 FAM84A 0 genome.wustl.edu 37 2 14789582 14789582 + R SNP G G T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 2 14789582 14789582 G T SNP FAM84A ENST00000497769 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors FAM84A HGNC ENSG00000162981 tier1 - - 50 0 0.00 21 4 16.00 PANK3 0 genome.wustl.edu 37 5 167984604 167984604 + Missense_Mutation SNP G G T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 5 167984604 167984604 G T SNP PANK3 ENST00000239231 human ensembl 74_37 -1 known missense c.1085 p.A362E 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK3 HGNC ENSG00000120137 tier1 - - 46 0 0.00 47 5 9.62 NKPD1 0 genome.wustl.edu 37 19 45655411 45655411 + Missense_Mutation SNP C C T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 19 45655411 45655411 C T SNP NKPD1 ENST00000317951 human ensembl 74_37 -1 known missense c.2284 p.A762T 0.557 NULL pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 tier1 - - 42 0 0.00 19 5 20.83 ZNF623 0 genome.wustl.edu 37 8 144732815 144732815 + Missense_Mutation SNP C C T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 8 144732815 144732815 C T SNP ZNF623 ENST00000501748 human ensembl 74_37 +1 known missense c.773 p.T258M 0.982 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF623 HGNC ENSG00000183309 tier1 - - 25 0 0.00 22 4 15.38 PPP1R15B 0 genome.wustl.edu 37 1 204378836 204378836 + Silent SNP A A G TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 1 204378836 204378836 A G SNP PPP1R15B ENST00000367188 human ensembl 74_37 -1 known silent c.1704 p.P568 0.978 pfam_Prot_Pase1_reg-su15A/B_C pfam_Prot_Pase1_reg-su15B_N,pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15B HGNC ENSG00000158615 tier1 - - 35 0 0.00 19 3 13.64 GLT8D2 0 genome.wustl.edu 37 12 104387183 104387183 + Missense_Mutation SNP G G T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 12 104387183 104387183 G T SNP GLT8D2 ENST00000360814 human ensembl 74_37 -1 known missense c.867 p.H289Q 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D2 HGNC ENSG00000120820 tier1 - - 58 0 0.00 33 4 10.81 DIAPH1 0 genome.wustl.edu 37 5 140963175 140963175 + Missense_Mutation SNP C C T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 5 140963175 140963175 C T SNP DIAPH1 ENST00000253811 human ensembl 74_37 -1 known missense c.410 p.S137N 0.895 pfam_GTPase-bd pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tR-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 tier1 - - 29 0 0.00 20 4 16.67 NCAPG 0 genome.wustl.edu 37 4 17816903 17816903 + Missense_Mutation SNP G G T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 4 17816903 17816903 G T SNP NCAPG ENST00000251496 human ensembl 74_37 +1 known missense c.697 p.A233S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NCAPG HGNC ENSG00000109805 tier1 - - 67 0 0.00 46 4 8.00 TCL6 0 genome.wustl.edu 37 14 96138459 96138459 + R SNP A A G TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 14 96138459 96138459 A G SNP TCL6 ENST00000459662 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TCL6 HGNC ENSG00000187621 tier1 - - 31 0 0.00 46 4 8.00 LIFR-AS1 0 genome.wustl.edu 37 5 38557555 38557555 + R SNP C C T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 5 38557555 38557555 C T SNP LIFR-AS1 ENST00000500733 human ensembl 74_37 +1 known rna NULL NULL 0.987 - - - no_errors LIFR-AS1 HGNC ENSG00000244968 tier1 - - 46 0 0.00 29 4 12.12 NRXN1 0 genome.wustl.edu 37 2 50147836 50147853 + R DEL GTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT - TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 GTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 2 50147836 50147853 GTGTGTGTGTGTGTGTGT - DEL NRXN1 ENST00000484192 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001:0.005:0.106:0.113:0.127:0.107:0.109:0.093:0.096:0.025:0.055:0.070:0.324:0.354:0.283:0.295:0.258 - - - no_errors NRXN1 HGNC ENSG00000179915 tier1 MYH7 0 genome.wustl.edu 37 14 23897840 23897840 + Missense_Mutation SNP C C T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 14 23897840 23897840 C T SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.1447 p.E483K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 rs121913651 - 179 0 0.00 73 53 41.73 NMD3 0 genome.wustl.edu 37 3 160945124 160945124 + Missense_Mutation SNP T T C TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 3 160945124 160945124 T C SNP NMD3 ENST00000351193 human ensembl 74_37 +1 known missense c.269 p.L90P 1.000 pfam_NMD3 pfam_NMD3 - no_errors NMD3 HGNC ENSG00000169251 tier1 - - 54 0 0.00 21 21 50.00 ALDH8A1 0 genome.wustl.edu 37 6 135239814 135239814 + Frame_Shift_Del DEL G G - TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 6 135239814 135239814 G - DEL ALDH8A1 ENST00000265605 human ensembl 74_37 -1 known frame_shift_del c.1203 p.F402fs 0.996 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH8A1 HGNC ENSG00000118514 tier1 35 0 0.00 15 8 34.78 CENPF 0 genome.wustl.edu 37 1 214814122 214814122 + Missense_Mutation SNP G G T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 1 214814122 214814122 G T SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.2441 p.C814F 0.001 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 tier1 - - 33 0 0.00 21 4 16.00 ANKRD28 0 genome.wustl.edu 37 3 15838150 15838151 + R INS - - T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 3 15838150 15838151 - T INS ANKRD28 ENST00000461696 human ensembl 74_37 -1 known rna NULL NULL 0.016:0.428 - - - no_errors ANKRD28 HGNC ENSG00000206560 tier1 10 0 0.00 10 2 16.67 NEK1 0 genome.wustl.edu 37 4 170482982 170482982 + Splice_Site SNP C C T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 4 170482982 170482982 C T SNP NEK1 ENST00000507142 human ensembl 74_37 -1 known splice_site c.1140+1 e12+1 1.000 - - - no_errors NEK1 HGNC ENSG00000137601 tier1 - - 58 0 0.00 34 15 30.61 TP53 0 genome.wustl.edu 37 17 7578536 7578536 + Missense_Mutation SNP T T C TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 17 7578536 7578536 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.394 p.K132E 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 39 0 0.00 2 12 85.71 EXOSC10 0 genome.wustl.edu 37 1 11140854 11140854 + Frame_Shift_Del DEL T T - TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 1 11140854 11140854 T - DEL EXOSC10 ENST00000376936 human ensembl 74_37 -1 known frame_shift_del c.1553 p.D518fs 1.000 pfam_HRDC_dom,superfamily_HRDC-like,smart_HRDC_dom,pfscan_HRDC_dom pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom - no_errors EXOSC10 HGNC ENSG00000171824 tier1 49 0 0.00 17 2 10.53 POTEB 0 genome.wustl.edu 37 15 22063539 22063539 + Missense_Mutation SNP A A G TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 15 22063539 22063539 A G SNP POTEB ENST00000439682 human ensembl 74_37 -1 known missense c.1120 p.C374R 0.028 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors POTEB HGNC ENSG00000233917 tier1 rs200568517 - 11 0 0.00 7 3 30.00 PLEC 0 genome.wustl.edu 37 8 144995719 144995719 + Missense_Mutation SNP C C G TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 8 144995719 144995719 C G SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.8681 p.G2894A 0.602 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 tier1 - - 47 0 0.00 24 16 40.00 CPN1 0 genome.wustl.edu 37 10 101841225 101841225 + Missense_Mutation SNP C C T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 10 101841225 101841225 C T SNP CPN1 ENST00000370418 human ensembl 74_37 -1 known missense c.158 p.R53H 0.997 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC ENSG00000120054 tier1 - - 28 0 0.00 13 3 18.75 EMR2 0 genome.wustl.edu 37 19 14875250 14875250 + Missense_Mutation SNP C C T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 19 14875250 14875250 C T SNP EMR2 ENST00000315576 human ensembl 74_37 -1 known missense c.1079 p.G360D 0.957 prints_GPCR_2_CD97 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 - - 42 0 0.00 31 4 11.43 KCNC2 0 genome.wustl.edu 37 12 75441989 75441989 + Missense_Mutation SNP C C T TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 12 75441989 75441989 C T SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known missense c.1724 p.C575Y 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_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 tier1 - - 54 0 0.00 26 17 39.53 PSD 0 genome.wustl.edu 37 10 104172156 104172156 + Missense_Mutation SNP G G A TCGA-WK-A8XZ-01A-11D-A37C-09 TCGA-WK-A8XZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 82b3cc1e-5a9f-413a-bf84-f936bf806217 4f0633e4-1412-4a20-8b9c-0451a23d8b55 10 104172156 104172156 G A SNP PSD ENST00000020673 human ensembl 74_37 -1 known missense c.1730 p.A577V 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 tier1 - - 63 0 0.00 33 4 10.81