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 C19orf35 0 genome.wustl.edu 37 19 2280757 2280776 + Frame_Shift_Del DEL CCTGCCGCTCCCTGCACCCA CCTGCCGCTCCCTGCACCCA - TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 CCTGCCGCTCCCTGCACCCA CCTGCCGCTCCCTGCACCCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 19 2280757 2280776 CCTGCCGCTCCCTGCACCCA - DEL C19orf35 ENST00000590316 human ensembl 74_37 -1 known frame_shift_del c.174_155 p.V52fs 0.339:0.033:0.011:0.003:0.002:0.000:0.002:0.002:0.003:0.008:0.009:0.011:0.005:0.001:0.000:0.000:0.000:0.000:0.000:0.000 NULL NULL - no_errors C19orf35 HGNC ENSG00000188305 tier1 GIN1 0 genome.wustl.edu 37 5 102432377 102432377 + Frame_Shift_Del DEL C C - TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 5 102432377 102432377 C - DEL GIN1 ENST00000399004 human ensembl 74_37 -1 known frame_shift_del c.1162 p.V388fs 1.000 NULL pfam_Integrase_cat-core,pfam_Znf_H2C2_histone_UAS-bd,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors GIN1 HGNC ENSG00000145723 tier1 81 0 0.00 36 10 21.74 GBP2 0 genome.wustl.edu 37 1 89583433 89583433 + Missense_Mutation SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 1 89583433 89583433 C T SNP GBP2 ENST00000370466 human ensembl 74_37 -1 known missense c.452 p.R151Q 0.009 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP2 HGNC ENSG00000162645 tier1 rs140765409 - 26 0 0.00 25 9 26.47 MYH3 0 genome.wustl.edu 37 17 10541139 10541139 + Silent SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 17 10541139 10541139 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known silent c.3843 p.L1281 0.112 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 tier1 - - 35 0 0.00 14 3 17.65 ZNF646 0 genome.wustl.edu 37 16 31092310 31092310 + Silent SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 16 31092310 31092310 C T SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known silent c.4665 p.D1555 0.423 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 tier1 rs201208689 GMAF=0.0005 38 0 0.00 26 4 13.33 C14orf166B 0 genome.wustl.edu 37 14 77319755 77319755 + Splice_Site SNP T T C TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 14 77319755 77319755 T C SNP C14orf166B ENST00000393774 human ensembl 74_37 +1 known splice_site c.1008+2 e9+2 1.000 - - - no_errors C14orf166B HGNC ENSG00000100565 tier1 - - 21 0 0.00 10 4 28.57 TMEM38A 0 genome.wustl.edu 37 19 16791255 16791255 + Missense_Mutation SNP G G A TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 19 16791255 16791255 G A SNP TMEM38A ENST00000187762 human ensembl 74_37 +1 known missense c.329 p.C110Y 1.000 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38A HGNC ENSG00000072954 tier1 - - 48 0 0.00 43 5 10.42 LRP1 0 genome.wustl.edu 37 12 57591343 57591343 + Missense_Mutation SNP G G A TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 12 57591343 57591343 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.9178 p.V3060I 0.988 superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 - - 33 0 0.00 17 4 19.05 LPCAT1 0 genome.wustl.edu 37 5 1461990 1461990 + R DEL A A - TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 5 1461990 1461990 A - DEL LPCAT1 ENST00000503252 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LPCAT1 HGNC ENSG00000153395 tier1 36 0 0.00 14 2 12.50 KIR3DX1 0 genome.wustl.edu 37 19 55048290 55048290 + Missense_Mutation SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 19 55048290 55048290 C T SNP KIR3DX1 ENST00000335056 human ensembl 74_37 +1 known missense c.857 p.T286M 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors KIR3DX1 HGNC ENSG00000104970 tier1 - - 66 0 0.00 25 21 45.65 SPPL2A 0 genome.wustl.edu 37 15 51040331 51040331 + Missense_Mutation SNP T T A TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 15 51040331 51040331 T A SNP SPPL2A ENST00000261854 human ensembl 74_37 -1 known missense c.429 p.K143N 0.990 pfam_Protease-assoc_domain pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2A HGNC ENSG00000138600 tier1 - - 91 0 0.00 30 4 11.43 ENSG00000222043 0 genome.wustl.edu 37 2 178129391 178129399 + R DEL GGCGGCGGC GGCGGCGGC - TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 GGCGGCGGC GGCGGCGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 2 178129391 178129399 GGCGGCGGC - DEL ENSG00000222043 ENST00000428541 human ensembl 74_37 +1 known rna NULL NULL 0.035:0.040:0.045:0.113:0.071:0.024:0.016:0.012:0.009 - - - no_errors AC079305.10 Clone_based_vega_gene ENSG00000222043 tier1 PPP1R12B 0 genome.wustl.edu 37 1 202407189 202407190 + Frame_Shift_Ins INS - - T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 1 202407189 202407190 - T INS PPP1R12B ENST00000480184 human ensembl 74_37 +1 novel frame_shift_ins c.1495_1496 p.F503fs 0.085:0.041 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 PPP1R12B HGNC ENSG00000077157 tier1 24 0 0.00 16 2 11.11 MIR490 0 genome.wustl.edu 37 7 136849019 136849019 + R SNP G G A TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 7 136849019 136849019 G A SNP MIR490 ENST00000425981 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors hsa-mir-490 miRBase ENSG00000234352 tier1 - - 56 0 0.00 64 15 18.75 NKX1-1 0 genome.wustl.edu 37 4 1397136 1397136 + Missense_Mutation SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 4 1397136 1397136 G T SNP NKX1-1 ENST00000422806 human ensembl 74_37 -1 known missense c.820 p.L274M 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX1-1 HGNC ENSG00000235608 tier1 - - 23 0 0.00 8 3 27.27 PFKL 0 genome.wustl.edu 37 21 45738392 45738392 + Nonsense_Mutation SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 21 45738392 45738392 G T SNP PFKL ENST00000403390 human ensembl 74_37 +1 known nonsense c.1117 p.E373* 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKL HGNC ENSG00000141959 tier1 - - 42 0 0.00 40 4 9.09 PARP6 0 genome.wustl.edu 37 15 72534537 72534537 + Missense_Mutation SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 15 72534537 72534537 G T SNP PARP6 ENST00000287196 human ensembl 74_37 -1 known missense c.1666 p.L556M 1.000 pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP6 HGNC ENSG00000137817 tier1 - - 29 0 0.00 15 3 16.67 APPL2 0 genome.wustl.edu 37 12 105591572 105591572 + Nonsense_Mutation SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 12 105591572 105591572 G T SNP APPL2 ENST00000551662 human ensembl 74_37 -1 known nonsense c.1041 p.C347* 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PTB/PI_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL2 HGNC ENSG00000136044 tier1 - - 31 0 0.00 16 4 20.00 PHEX 0 genome.wustl.edu 37 X 22196424 22196424 + Missense_Mutation SNP T T C TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 X 22196424 22196424 T C SNP PHEX ENST00000379374 human ensembl 74_37 +1 known missense c.1517 p.V506A 1.000 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 tier1 - - 77 0 0.00 33 37 52.86 ENSG00000215923 0 genome.wustl.edu 37 12 16562191 16562191 + R DEL G G - TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 12 16562191 16562191 G - DEL ENSG00000215923 ENST00000401104 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AC007528.1 Clone_based_ensembl_gene ENSG00000215923 tier1 45 0 0.00 13 2 13.33 ABCE1 0 genome.wustl.edu 37 4 146031349 146031349 + Missense_Mutation SNP T T A TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 4 146031349 146031349 T A SNP ABCE1 ENST00000296577 human ensembl 74_37 +1 known missense c.500 p.I167N 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E - no_errors ABCE1 HGNC ENSG00000164163 tier1 - - 64 0 0.00 44 4 8.33 RNF149 0 genome.wustl.edu 37 2 101893720 101893720 + Missense_Mutation SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 2 101893720 101893720 G T SNP RNF149 ENST00000295317 human ensembl 74_37 -1 known missense c.1183 p.H395N 0.001 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF149 HGNC ENSG00000163162 tier1 - - 31 0 0.00 35 4 10.26 ELL3 0 genome.wustl.edu 37 15 44066407 44066407 + Silent SNP T T C TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 15 44066407 44066407 T C SNP ELL3 ENST00000319359 human ensembl 74_37 -1 known silent c.1011 p.R337 0.998 pfam_Occludin_Rpol2_elong_fac_ELL pfam_R_pol_II_elong_fac_ELL,pfam_Occludin_Rpol2_elong_fac_ELL - no_errors ELL3 HGNC ENSG00000128886 tier1 - - 51 0 0.00 20 3 13.04 SLC26A9 0 genome.wustl.edu 37 1 205898419 205898419 + Silent SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 1 205898419 205898419 G T SNP SLC26A9 ENST00000340781 human ensembl 74_37 -1 known silent c.783 p.I261 1.000 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 tier1 - - 47 0 0.00 23 3 11.54 RBM10 0 genome.wustl.edu 37 X 47035947 47035947 + Missense_Mutation SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 X 47035947 47035947 C T SNP RBM10 ENST00000377604 human ensembl 74_37 +1 known missense c.625 p.P209S 1.000 pfscan_RRM_dom pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 tier1 - - 50 0 0.00 29 9 23.68 FBXL12 0 genome.wustl.edu 37 19 9929421 9929421 + Silent SNP G G A TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 19 9929421 9929421 G A SNP FBXL12 ENST00000247977 human ensembl 74_37 -1 known silent c.69 p.D23 1.000 pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXL12 HGNC ENSG00000127452 tier1 - - 27 0 0.00 32 4 11.11 KLHL36 0 genome.wustl.edu 37 16 84690651 84690651 + Missense_Mutation SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 16 84690651 84690651 C T SNP KLHL36 ENST00000564996 human ensembl 74_37 +1 known missense c.238 p.R80W 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC ENSG00000135686 tier1 - - 31 0 0.00 26 4 13.33 ENSG00000221672 0 genome.wustl.edu 37 22 47243832 47243853 + R DEL GTGTGTGTGTGTGTGTGTGTGC GTGTGTGTGTGTGTGTGTGTGC - TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 GTGTGTGTGTGTGTGTGTGTGC GTGTGTGTGTGTGTGTGTGTGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 22 47243832 47243853 GTGTGTGTGTGTGTGTGTGTGC - DEL ENSG00000221672 ENST00000408745 human ensembl 74_37 +1 novel rna NULL NULL 0.001:0.002:0.001:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.003:0.002:0.002:0.003:0.004:0.001 - - - no_errors Z97351.1 Clone_based_ensembl_gene ENSG00000221672 tier1 ITIH4 0 genome.wustl.edu 37 3 52853932 52853932 + Missense_Mutation SNP T T C TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 3 52853932 52853932 T C SNP ITIH4 ENST00000434759 human ensembl 74_37 -1 known missense c.1672 p.R558G 0.000 NULL pfam_VWF_A,pfam_VIT,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH4 HGNC ENSG00000055955 tier1 - - 61 0 0.00 40 4 9.09 TMEM104 0 genome.wustl.edu 37 17 72832223 72832223 + Silent SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 17 72832223 72832223 C T SNP TMEM104 ENST00000335464 human ensembl 74_37 +1 known silent c.888 p.P296 0.849 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 tier1 - - 36 0 0.00 16 3 15.79 DST 0 genome.wustl.edu 37 6 56485078 56485078 + Missense_Mutation SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 6 56485078 56485078 G T SNP DST ENST00000370765 human ensembl 74_37 -1 known missense c.3754 p.L1252M 0.018 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 tier1 - - 25 0 0.00 19 4 17.39 MAOA 0 genome.wustl.edu 37 X 43571984 43571984 + Silent SNP T T C TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 X 43571984 43571984 T C SNP MAOA ENST00000338702 human ensembl 74_37 +1 known silent c.444 p.H148 0.967 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_D-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase - no_errors MAOA HGNC ENSG00000189221 tier1 - - 45 0 0.00 21 11 34.38 TCL6 0 genome.wustl.edu 37 14 96134782 96134782 + R SNP G G A TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 14 96134782 96134782 G A SNP TCL6 ENST00000352367 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors TCL6 HGNC ENSG00000187621 tier1 - - 14 0 0.00 7 9 56.25 SDHAF2 0 genome.wustl.edu 37 11 61205586 61205586 + Splice_Site SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 11 61205586 61205586 G T SNP SDHAF2 ENST00000301761 human ensembl 74_37 +1 known splice_site c.370+1 e3+1 1.000 - - - no_errors SDHAF2 HGNC ENSG00000167985 tier1 - - 38 0 0.00 41 4 8.89 SLCO6A1 0 genome.wustl.edu 37 5 101794149 101794149 + Frame_Shift_Del DEL A A - TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 5 101794149 101794149 A - DEL SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known frame_shift_del c.1068 p.F356fs 0.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 tier1 41 0 0.00 32 4 11.11 SULT6B1 0 genome.wustl.edu 37 2 37406711 37406711 + Missense_Mutation SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 2 37406711 37406711 C T SNP SULT6B1 ENST00000535679 human ensembl 74_37 -1 known missense c.419 p.R140Q 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT6B1 HGNC ENSG00000138068 tier1 rs11569744 - 37 0 0.00 24 8 25.00 PRDM16 0 genome.wustl.edu 37 1 3342727 3342727 + Silent SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 1 3342727 3342727 G T SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known silent c.3222 p.S1074 0.254 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 tier1 - - 83 0 0.00 38 45 54.22 DH8 0 genome.wustl.edu 37 6 38794123 38794123 + Missense_Mutation SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 6 38794123 38794123 C T SNP DH8 ENST00000359357 human ensembl 74_37 +1 known missense c.3388 p.R1130C 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH8 HGNC ENSG00000124721 tier1 - - 38 0 0.00 16 12 42.86 PARP10 0 genome.wustl.edu 37 8 145057487 145057487 + Missense_Mutation SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 8 145057487 145057487 C T SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known missense c.2270 p.C757Y 0.010 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 tier1 - - 57 0 0.00 36 13 26.53 MSH4 0 genome.wustl.edu 37 1 76276463 76276463 + Silent SNP T T C TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 1 76276463 76276463 T C SNP MSH4 ENST00000263187 human ensembl 74_37 +1 known silent c.670 p.L224 1.000 pfam_D_mmatch_repair_MutS_con_dom,superfamily_D_mmatch_repair_MutS_con_dom pfam_D_mismatch_repair_MutS_C,pfam_D_mismatch_repair_MutS_core,pfam_D_mmatch_repair_MutS_con_dom,pfam_D_mismatch_repair_MutS_clamp,superfamily_D_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_D_mmatch_repair_MutS_con_dom,smart_D_mismatch_repair_MutS_core,smart_D_mismatch_repair_MutS_C - no_errors MSH4 HGNC ENSG00000057468 tier1 - - 66 0 0.00 25 21 45.65 ASB13 0 genome.wustl.edu 37 10 5682032 5682032 + R SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 10 5682032 5682032 C T SNP ASB13 ENST00000479033 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ASB13 HGNC ENSG00000196372 tier1 - - 69 0 0.00 41 4 8.89 ARG2 0 genome.wustl.edu 37 14 68087671 68087671 + Missense_Mutation SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 14 68087671 68087671 C T SNP ARG2 ENST00000261783 human ensembl 74_37 +1 known missense c.172 p.L58F 1.000 pfam_Ureohydrolase,tigrfam_Arginase pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase - no_errors ARG2 HGNC ENSG00000081181 tier1 - - 56 0 0.00 24 5 17.24 ENSG00000226145 0 genome.wustl.edu 37 17 16722353 16722353 + R SNP G G A TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 17 16722353 16722353 G A SNP ENSG00000226145 ENST00000417510 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC022596.6 Clone_based_vega_gene ENSG00000226145 tier1 - - 85 0 0.00 16 30 65.22 ZAP70 0 genome.wustl.edu 37 2 98340859 98340859 + Silent SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 2 98340859 98340859 C T SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known silent c.360 p.D120 0.911 pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 tier1 - - 14 0 0.00 7 7 50.00 ASTE1 0 genome.wustl.edu 37 3 130743806 130743806 + Silent SNP A A G TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 3 130743806 130743806 A G SNP ASTE1 ENST00000264992 human ensembl 74_37 -1 known silent c.345 p.C115 0.064 NULL pfam_XPG_D_repair_N - no_errors ASTE1 HGNC ENSG00000034533 tier1 - - 39 0 0.00 22 4 15.38 NLRX1 0 genome.wustl.edu 37 11 119053027 119053027 + Missense_Mutation SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 11 119053027 119053027 G T SNP NLRX1 ENST00000292199 human ensembl 74_37 +1 known missense c.2579 p.R860L 0.560 smart_Leu-rich_rpt_RNase_inh_sub-typ superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 tier1 - - 59 0 0.00 32 4 11.11 SMARCD1 0 genome.wustl.edu 37 12 50480064 50480064 + Missense_Mutation SNP C C A TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 12 50480064 50480064 C A SNP SMARCD1 ENST00000394963 human ensembl 74_37 +1 known missense c.298 p.R100S 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD1 HGNC ENSG00000066117 tier1 - - 47 0 0.00 16 3 15.79 NRBP1 0 genome.wustl.edu 37 2 27656657 27656658 + Frame_Shift_Ins INS - - A TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 2 27656657 27656658 - A INS NRBP1 ENST00000233557 human ensembl 74_37 +1 known frame_shift_ins c.328_329 p.E111fs 1.000:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NRBP1 HGNC ENSG00000115216 tier1 54 0 0.00 13 2 13.33 SLC25A15 0 genome.wustl.edu 37 13 41367321 41367321 + R SNP A A G TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 13 41367321 41367321 A G SNP SLC25A15 ENST00000478827 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors SLC25A15 HGNC ENSG00000102743 tier1 - - 37 0 0.00 14 3 17.65 SRGAP3-AS1 0 genome.wustl.edu 37 3 9057425 9057425 + R SNP A A T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 3 9057425 9057425 A T SNP SRGAP3-AS1 ENST00000414633 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SRGAP3-AS1 HGNC ENSG00000224808 tier1 - - 35 0 0.00 14 3 17.65 CSMD2 0 genome.wustl.edu 37 1 34006739 34006739 + Missense_Mutation SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 1 34006739 34006739 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.9448 p.V3150I 0.683 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 rs139840174 - 75 0 0.00 44 19 30.16 KCNT1 0 genome.wustl.edu 37 9 138594181 138594181 + Frame_Shift_Del DEL C C - TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 9 138594181 138594181 C - DEL KCNT1 ENST00000298480 human ensembl 74_37 +1 known frame_shift_del c.77 p.F27fs 0.889 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 tier1 37 0 0.00 18 4 18.18 SNX14 0 genome.wustl.edu 37 6 86224338 86224338 + Missense_Mutation SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 6 86224338 86224338 C T SNP SNX14 ENST00000314673 human ensembl 74_37 -1 known missense c.2278 p.D760N 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX14 HGNC ENSG00000135317 tier1 - - 32 0 0.00 32 4 11.11 DHX35 0 genome.wustl.edu 37 20 37597728 37597728 + Silent SNP A A G TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 20 37597728 37597728 A G SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known silent c.45 p.T15 0.967 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 tier1 - - 45 0 0.00 30 4 11.76 ACOT2 0 genome.wustl.edu 37 14 74042189 74042189 + Missense_Mutation SNP A A G TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 14 74042189 74042189 A G SNP ACOT2 ENST00000238651 human ensembl 74_37 +1 known missense c.1424 p.H475R 0.000 pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT2 HGNC ENSG00000119673 tier1 rs7494 - 10 0 0.00 6 4 40.00 PLEKHM2 0 genome.wustl.edu 37 1 16045048 16045048 + Silent SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 1 16045048 16045048 C T SNP PLEKHM2 ENST00000375799 human ensembl 74_37 +1 known silent c.393 p.C131 1.000 pfam_Run,smart_Run,pfscan_Run pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 tier1 - - 26 0 0.00 35 4 10.26 BSN 0 genome.wustl.edu 37 3 49690071 49690071 + Missense_Mutation SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 3 49690071 49690071 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.3082 p.R1028C 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 tier1 rs147015088 - 48 0 0.00 21 4 16.00 NDUFB2 0 genome.wustl.edu 37 7 140398056 140398056 + Missense_Mutation SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 7 140398056 140398056 G T SNP NDUFB2 ENST00000204307 human ensembl 74_37 +1 known missense c.56 p.R19L 0.000 NULL NULL - no_errors NDUFB2 HGNC ENSG00000090266 tier1 - - 45 0 0.00 20 12 37.50 MUC19 0 genome.wustl.edu 37 12 40915329 40915329 + R SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 12 40915329 40915329 G T SNP MUC19 ENST00000398702 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 81 0 0.00 12 14 53.85 TMC6 0 genome.wustl.edu 37 17 76117780 76117780 + Missense_Mutation SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 17 76117780 76117780 C T SNP TMC6 ENST00000322914 human ensembl 74_37 -1 known missense c.1240 p.E414K 0.993 NULL pfam_TMC - no_errors TMC6 HGNC ENSG00000141524 tier1 - - 20 0 0.00 10 7 41.18 CLGN 0 genome.wustl.edu 37 4 141331038 141331038 + Nonsense_Mutation SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 4 141331038 141331038 G T SNP CLGN ENST00000325617 human ensembl 74_37 -1 known nonsense c.230 p.S77* 1.000 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CLGN HGNC ENSG00000153132 tier1 rs202031051 - 45 0 0.00 16 3 15.79 F2 0 genome.wustl.edu 37 11 46747683 46747683 + Silent SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 11 46747683 46747683 G T SNP F2 ENST00000311907 human ensembl 74_37 +1 known silent c.834 p.G278 0.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Prothrombin/thrombin,pfscan_Kringle pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 tier1 - - 34 0 0.00 21 8 27.59 ENSG00000225946 0 genome.wustl.edu 37 7 100608194 100608195 + R INS - - GTCTGGG TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 7 100608194 100608195 - GTCTGGG INS ENSG00000225946 ENST00000420080 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000225946 tier1 WWP2 0 genome.wustl.edu 37 16 69832714 69832714 + Missense_Mutation SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 16 69832714 69832714 G T SNP WWP2 ENST00000356003 human ensembl 74_37 +1 known missense c.200 p.W67L 1.000 superfamily_C2_dom,smart_C2_dom pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors WWP2 HGNC ENSG00000198373 tier1 - - 52 0 0.00 41 4 8.89 TTK 0 genome.wustl.edu 37 6 80721152 80721152 + Silent SNP A A T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 6 80721152 80721152 A T SNP TTK ENST00000369798 human ensembl 74_37 +1 known silent c.615 p.A205 0.058 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 tier1 - - 59 0 0.00 27 4 12.90 ZNF80 0 genome.wustl.edu 37 3 113955740 113955740 + Frame_Shift_Del DEL T T - TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 3 113955740 113955740 T - DEL ZNF80 ENST00000308095 human ensembl 74_37 -1 known frame_shift_del c.182 p.N61fs 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF80 HGNC ENSG00000174255 tier1 33 0 0.00 28 3 9.68 RCL1 0 genome.wustl.edu 37 9 4849484 4849484 + Missense_Mutation SNP T T C TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 9 4849484 4849484 T C SNP RCL1 ENST00000381750 human ensembl 74_37 +1 known missense c.905 p.L302P 0.999 pfam_R3'_phos_cyclase_dom,pirsf_R3'_term_phos_cyc,tigrfam_R3'_term_phos_cyc_type_2 pfam_R3'_phos_cyclase_dom,pfam_R3'-term_phos_cycl_insert,superfamily_R3'P_cycl/enolpyr_Trfase_a/b,pirsf_R3'_term_phos_cyc,tigrfam_R3'_term_phos_cyc_type_2 - no_errors RCL1 HGNC ENSG00000120158 tier1 - - 52 0 0.00 15 4 21.05 KHDRBS2 0 genome.wustl.edu 37 6 62757843 62757843 + Silent SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 6 62757843 62757843 C T SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known silent c.276 p.Q92 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 tier1 - - 46 0 0.00 37 4 9.76 PHRF1 0 genome.wustl.edu 37 11 591456 591456 + Missense_Mutation SNP A A G TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 11 591456 591456 A G SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known missense c.493 p.I165V 0.682 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 tier1 - - 37 0 0.00 25 16 39.02 THOC1 0 genome.wustl.edu 37 18 260283 260283 + Missense_Mutation SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 18 260283 260283 G T SNP THOC1 ENST00000261600 human ensembl 74_37 -1 known missense c.278 p.P93H 1.000 pfam_THO_THOC1 pfam_THO_THOC1,pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain - no_errors THOC1 HGNC ENSG00000079134 tier1 - - 20 0 0.00 23 4 14.81 ABCF3 0 genome.wustl.edu 37 3 183910980 183910980 + Missense_Mutation SNP G G A TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 3 183910980 183910980 G A SNP ABCF3 ENST00000429586 human ensembl 74_37 +1 known missense c.1841 p.G614D 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF3 HGNC ENSG00000161204 tier1 - - 59 0 0.00 30 12 28.57 ITGA1 0 genome.wustl.edu 37 5 52183738 52183738 + Silent SNP C C A TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 5 52183738 52183738 C A SNP ITGA1 ENST00000282588 human ensembl 74_37 +1 known silent c.865 p.R289 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 tier1 - - 42 0 0.00 41 4 8.89 ENSG00000254967 0 genome.wustl.edu 37 11 125825708 125825715 + Splice_Site DEL ATAGGCCT ATAGGCCT - TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 ATAGGCCT ATAGGCCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 11 125825708 125825715 ATAGGCCT - DEL ENSG00000254967 ENST00000524962 human ensembl 74_37 +1 known splice_site_del c.NULL NULL 0.000:0.004:0.614:0.629:0.409:0.295:0.137:0.003 - - - no_errors RP11-680F20.6 Clone_based_vega_gene ENSG00000254967 tier1 USP4 0 genome.wustl.edu 37 3 49373013 49373013 + Silent SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 3 49373013 49373013 G T SNP USP4 ENST00000265560 human ensembl 74_37 -1 known silent c.118 p.R40 1.000 pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP4 HGNC ENSG00000114316 tier1 - - 34 0 0.00 18 4 18.18 INHA 0 genome.wustl.edu 37 2 220439577 220439577 + Missense_Mutation SNP G G C TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 2 220439577 220439577 G C SNP INHA ENST00000243786 human ensembl 74_37 +1 known missense c.430 p.A144P 0.065 pirsf_Inhibin_asu_subgr pfam_TGF-b_C,smart_TGF-b_C,pirsf_Inhibin_asu_subgr,prints_Inhibin_asu - no_errors INHA HGNC ENSG00000123999 tier1 - - 61 0 0.00 16 9 36.00 BAI3 0 genome.wustl.edu 37 6 69684656 69684656 + Silent SNP A A T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 6 69684656 69684656 A T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known silent c.1527 p.A509 0.999 pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 40 0 0.00 17 14 45.16 GPRIN2 0 genome.wustl.edu 37 10 47000213 47000213 + Missense_Mutation SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 10 47000213 47000213 C T SNP GPRIN2 ENST00000374314 human ensembl 74_37 +1 known missense c.1333 p.R445W 0.724 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 tier1 rs201166086 GMAF=0.0005 44 0 0.00 31 6 16.22 ANKRD50 0 genome.wustl.edu 37 4 125631194 125631194 + Missense_Mutation SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 4 125631194 125631194 G T SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.473 p.P158H 0.998 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 tier1 - - 71 0 0.00 39 4 9.30 PDE1A 0 genome.wustl.edu 37 2 183095805 183095805 + Silent SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 2 183095805 183095805 C T SNP PDE1A ENST00000456212 human ensembl 74_37 -1 known silent c.519 p.E173 0.207 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1A HGNC ENSG00000115252 tier1 - - 50 0 0.00 29 3 9.38 SLC47A2 0 genome.wustl.edu 37 17 19618456 19618456 + Silent SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 17 19618456 19618456 C T SNP SLC47A2 ENST00000325411 human ensembl 74_37 -1 known silent c.198 p.E66 1.000 pfam_MATE pfam_MATE,tigrfam_MATE - no_errors SLC47A2 HGNC ENSG00000180638 tier1 - - 46 0 0.00 40 4 9.09 E2F6 0 genome.wustl.edu 37 2 11593912 11593912 + Missense_Mutation SNP A A G TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 2 11593912 11593912 A G SNP E2F6 ENST00000381525 human ensembl 74_37 -1 known missense c.176 p.V59A 1.000 NULL pfam_E2F_TDP - no_errors E2F6 HGNC ENSG00000169016 tier1 - - 40 0 0.00 15 3 16.67 RGL2 0 genome.wustl.edu 37 6 33263137 33263137 + Silent SNP G G A TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 6 33263137 33263137 G A SNP RGL2 ENST00000497454 human ensembl 74_37 -1 known silent c.1083 p.S361 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 tier1 - - 53 0 0.00 31 25 44.64 PLX2 0 genome.wustl.edu 37 1 208199993 208199994 + R INS - - TC TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 1 208199993 208199994 - TC INS PLX2 ENST00000483048 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors PLX2 HGNC ENSG00000076356 tier1 31 0 0.00 18 5 21.74 WDR65 0 genome.wustl.edu 37 1 43719692 43719692 + Missense_Mutation SNP A A G TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 1 43719692 43719692 A G SNP WDR65 ENST00000372492 human ensembl 74_37 +1 novel missense c.3583 p.N1195D 0.833 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 tier1 - - 38 0 0.00 26 4 13.33 PTK2 0 genome.wustl.edu 37 8 141754753 141754753 + Missense_Mutation SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 8 141754753 141754753 G T SNP PTK2 ENST00000395218 human ensembl 74_37 -1 known missense c.1632 p.H544Q 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC ENSG00000169398 tier1 - - 42 0 0.00 28 3 9.68 SRR 0 genome.wustl.edu 37 17 2226627 2226627 + Missense_Mutation SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 17 2226627 2226627 G T SNP SRR ENST00000344595 human ensembl 74_37 +1 known missense c.792 p.E264D 1.000 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SRR HGNC ENSG00000167720 tier1 - - 29 0 0.00 13 3 18.75 PNISR 0 genome.wustl.edu 37 6 99848036 99848036 + R DEL A A - TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 6 99848036 99848036 A - DEL PNISR ENST00000481229 human ensembl 74_37 -1 known rna NULL NULL 0.986 - - - no_errors PNISR HGNC ENSG00000132424 tier1 21 0 0.00 16 5 23.81 C6orf118 0 genome.wustl.edu 37 6 165706835 165706835 + Missense_Mutation SNP G G A TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 6 165706835 165706835 G A SNP C6orf118 ENST00000543069 human ensembl 74_37 -1 known missense c.875 p.A292V 0.001 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 tier1 - - 30 0 0.00 17 3 15.00 SPTA1 0 genome.wustl.edu 37 1 158583576 158583576 + Silent SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 1 158583576 158583576 G T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.6924 p.P2308 1.000 NULL pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 52 0 0.00 28 11 28.21 CAPN11 0 genome.wustl.edu 37 6 44147871 44147871 + Silent SNP G G A TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 6 44147871 44147871 G A SNP CAPN11 ENST00000398776 human ensembl 74_37 +1 known silent c.1611 p.R537 0.103 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN11 HGNC ENSG00000137225 tier1 - - 28 0 0.00 16 3 15.79 MMP3 0 genome.wustl.edu 37 11 102713513 102713513 + Silent SNP G G A TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 11 102713513 102713513 G A SNP MMP3 ENST00000299855 human ensembl 74_37 -1 known silent c.240 p.D80 0.954 pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP3 HGNC ENSG00000149968 tier1 - - 45 0 0.00 43 4 8.51 BANF2 0 genome.wustl.edu 37 20 17716354 17716354 + Missense_Mutation SNP A A T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 20 17716354 17716354 A T SNP BANF2 ENST00000545418 human ensembl 74_37 +1 known missense c.192 p.E64D 0.038 pfam_BAF_prot,superfamily_BAF_prot pfam_BAF_prot,superfamily_BAF_prot - no_errors BANF2 HGNC ENSG00000125888 tier1 - - 56 0 0.00 36 4 10.00 ENPP3 0 genome.wustl.edu 37 6 131997878 131997878 + Missense_Mutation SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 6 131997878 131997878 G T SNP ENPP3 ENST00000357639 human ensembl 74_37 +1 known missense c.875 p.S292I 0.001 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_D/R_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_D/R_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 tier1 - - 50 0 0.00 26 3 10.34 SAMM50 0 genome.wustl.edu 37 22 44368199 44368199 + Missense_Mutation SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 22 44368199 44368199 G T SNP SAMM50 ENST00000350028 human ensembl 74_37 +1 known missense c.406 p.V136F 1.000 NULL pfam_Bac_surfAg_D15 - no_errors SAMM50 HGNC ENSG00000100347 tier1 - - 47 0 0.00 23 3 11.54 ATXN7L2 0 genome.wustl.edu 37 1 110034210 110034210 + Silent SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 1 110034210 110034210 G T SNP ATXN7L2 ENST00000369870 human ensembl 74_37 +1 known silent c.2025 p.L675 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L2 HGNC ENSG00000162650 tier1 - - 39 0 0.00 37 4 9.76 CNN1 0 genome.wustl.edu 37 19 11651944 11651944 + Missense_Mutation SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 19 11651944 11651944 G T SNP CNN1 ENST00000252456 human ensembl 74_37 +1 known missense c.117 p.E39D 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_SM22_calponin,prints_Calponin pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN1 HGNC ENSG00000130176 tier1 - - 46 0 0.00 32 4 11.11 NDST1 0 genome.wustl.edu 37 5 149901311 149901311 + Silent SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 5 149901311 149901311 C T SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known silent c.495 p.G165 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 tier1 - - 51 0 0.00 37 4 9.76 ABCA13 0 genome.wustl.edu 37 7 48414001 48414001 + Nonsense_Mutation SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 7 48414001 48414001 G T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known nonsense c.11191 p.G3731* 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 36 0 0.00 24 4 14.29 IRAK3 0 genome.wustl.edu 37 12 66641685 66641685 + Missense_Mutation SNP T T A TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 4c7cff6a-631d-4d69-a1c4-f4fad062b011 79cb9ea0-57c1-4504-895d-6153d1f878b5 12 66641685 66641685 T A SNP IRAK3 ENST00000261233 human ensembl 74_37 +1 known missense c.1525 p.C509S 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Death_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom - no_errors IRAK3 HGNC ENSG00000090376 tier1 - - 32 0 0.00 25 15 37.50