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 title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF COL11A1 0 genome.wustl.edu 37 1 103488461 103488461 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 103488461 103488461 T C SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.1118 p.E373G 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 52 0 0 23 9 28.125 CELSR2 0 genome.wustl.edu 37 1 109813433 109813433 + RNA SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 109813433 109813433 T C SNP CELSR2 ENST00000489018 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CELSR2 HGNC ENSG00000143126 27 0 0 20 9 31.0345 KCNC4 0 genome.wustl.edu 37 1 110766118 110766118 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 110766118 110766118 G A SNP KCNC4 ENST00000369787 human ensembl 74_37 +1 known missense c.1211 p.R404H 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,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_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 179 0 0 114 35 23.4899 TTLL10 0 genome.wustl.edu 37 1 1115547 1115547 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 1115547 1115547 C T SNP TTLL10 ENST00000379289 human ensembl 74_37 +1 known silent c.333 p.P111 0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL10 HGNC ENSG00000162571 27 0 0 13 11 45.8333 CHI3L2 0 genome.wustl.edu 37 1 111773369 111773369 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 111773369 111773369 G A SNP CHI3L2 ENST00000369748 human ensembl 74_37 +1 known missense c.76 p.A26T 0.887 NULL pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L2 HGNC ENSG00000064886 46 0 0 25 12 32.4324 MTOR 0 genome.wustl.edu 37 1 11190747 11190747 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 11190747 11190747 G A SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.5452 p.R1818C 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 26 0 0 19 3 13.6364 MTOR 0 genome.wustl.edu 37 1 11204730 11204730 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 11204730 11204730 C T SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.4847 p.R1616H 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 82 0 0 54 15 21.7391 MTOR 0 genome.wustl.edu 37 1 11313928 11313928 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 11313928 11313928 C T SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.808 p.E270K 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 154 0 0 113 28 19.8582 UBIAD1 0 genome.wustl.edu 37 1 11345851 11345851 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 11345851 11345851 C A SNP UBIAD1 ENST00000376810 human ensembl 74_37 +1 known missense c.680 p.A227D 1.000 pfam_UbiA_prenyltransferase pfam_UbiA_prenyltransferase - no_errors UBIAD1 HGNC ENSG00000120942 160 0 0 74 42 36.2069 DENND2C 0 genome.wustl.edu 37 1 115130365 115130365 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 115130365 115130365 G A SNP DENND2C ENST00000393274 human ensembl 74_37 -1 known silent c.2640 p.D880 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 60 0 0 40 13 24.5283 CSDE1 0 genome.wustl.edu 37 1 115272955 115272955 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 115272955 115272955 C T SNP CSDE1 ENST00000369530 human ensembl 74_37 -1 known missense c.1325 p.R442H 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot - no_errors CSDE1 HGNC ENSG00000009307 86 0 0 52 14 21.2121 MTHFR 0 genome.wustl.edu 37 1 11854880 11854880 + Nonsense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 11854880 11854880 G A SNP MTHFR ENST00000376583 human ensembl 74_37 -1 known nonsense c.1195 p.R399* 1.000 NULL pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 122 0 0 70 49 41.1765 MIIP 0 genome.wustl.edu 37 1 12091811 12091811 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 12091811 12091811 G A SNP MIIP ENST00000436478 human ensembl 74_37 +1 known missense c.1016 p.R339Q 0.000 NULL NULL - no_errors MIIP HGNC ENSG00000116691 217 0 0 120 44 26.8293 ENSG00000242569 0 genome.wustl.edu 37 1 143362008 143362008 + RNA SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 143362008 143362008 G A SNP ENSG00000242569 ENST00000411775 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-435B5.3 Clone_based_vega_gene ENSG00000242569 136 0 0 57 26 31.3253 SEC22B 0 genome.wustl.edu 37 1 145109530 145109530 + RNA SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 145109530 145109530 T C SNP SEC22B ENST00000453618 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SEC22B HGNC ENSG00000223380 255 0 0 176 15 7.8534 ANKRD35 0 genome.wustl.edu 37 1 145560110 145560110 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 145560110 145560110 C T SNP ANKRD35 ENST00000355594 human ensembl 74_37 +1 known missense c.596 p.A199V 0.491 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD35 HGNC ENSG00000198483 104 0 0 68 21 23.5955 POLR3C 0 genome.wustl.edu 37 1 145608468 145608468 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 145608468 145608468 G A SNP POLR3C ENST00000334163 human ensembl 74_37 -1 known silent c.339 p.N113 0.996 NULL pfam_RNA_pol_III_Rpc82_C,pfam_RNA_pol_III_RPC82-rel_HTH - no_errors POLR3C HGNC ENSG00000186141 114 0 0 72 26 26.5306 GJA5 0 genome.wustl.edu 37 1 147230449 147230449 + Nonsense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 147230449 147230449 G A SNP GJA5 ENST00000271348 human ensembl 74_37 -1 known nonsense c.898 p.Q300* 0.678 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40 - no_errors GJA5 HGNC ENSG00000143140 150 0 0 93 25 21.1864 SV2A 0 genome.wustl.edu 37 1 149882203 149882203 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 149882203 149882203 G A SNP SV2A ENST00000369146 human ensembl 74_37 -1 known silent c.1008 p.F336 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 37 0 0 20 12 37.5 SF3B4 0 genome.wustl.edu 37 1 149898716 149898716 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 149898716 149898716 C T SNP SF3B4 ENST00000271628 human ensembl 74_37 -1 known silent c.258 p.V86 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC ENSG00000143368 93 0 0 61 24 28.2353 MTMR11 0 genome.wustl.edu 37 1 149903123 149903123 + RNA SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 149903123 149903123 C T SNP MTMR11 ENST00000490310 human ensembl 74_37 -1 known rna NULL NULL 0.058 - - - no_errors MTMR11 HGNC ENSG00000014914 74 0 0 30 16 34.7826 RPRD2 0 genome.wustl.edu 37 1 150445109 150445109 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 150445109 150445109 C T SNP RPRD2 ENST00000369068 human ensembl 74_37 +1 known nonsense c.3685 p.R1229* 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom - no_errors RPRD2 HGNC ENSG00000163125 147 0 0 98 7 6.66667 HRNR 0 genome.wustl.edu 37 1 152191461 152191461 + Nonsense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 152191461 152191461 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known nonsense c.2644 p.R882* 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 202 0 0 148 37 20 FLG 0 genome.wustl.edu 37 1 152286867 152286867 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 152286867 152286867 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.495 p.S165 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 80 0 0 40 9 18.3673 LCE1E 0 genome.wustl.edu 37 1 152759915 152759915 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 152759915 152759915 G T SNP LCE1E ENST00000368770 human ensembl 74_37 +1 known missense c.140 p.S47I 0.909 NULL NULL - no_errors LCE1E HGNC ENSG00000186226 177 0 0 135 29 17.6829 ILF2 0 genome.wustl.edu 37 1 153635620 153635620 + RNA SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 153635620 153635620 G T SNP ILF2 ENST00000480213 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ILF2 HGNC ENSG00000143621 159 0 0 106 31 22.6277 C1orf43 0 genome.wustl.edu 37 1 154185102 154185102 + Splice_Site SNP T T G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 154185102 154185102 T G SNP C1orf43 ENST00000368521 human ensembl 74_37 -1 known splice_site c.341-2 e5-2 0.995 - - - no_errors C1orf43 HGNC ENSG00000143612 63 0 0 40 8 16.6667 ATP8B2 0 genome.wustl.edu 37 1 154316910 154316910 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 154316910 154316910 C T SNP ATP8B2 ENST00000368489 human ensembl 74_37 +1 known missense c.2174 p.T725M 0.971 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B2 HGNC ENSG00000143515 128 0 0 93 31 25 DCST2 0 genome.wustl.edu 37 1 154998785 154998785 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 154998785 154998785 C T SNP DCST2 ENST00000368424 human ensembl 74_37 -1 known missense c.1604 p.R535Q 0.997 pfam_DC_STAMP-like pfam_DC_STAMP-like - no_errors DCST2 HGNC ENSG00000163354 117 0 0 74 23 23.7113 RUSC1 0 genome.wustl.edu 37 1 155291869 155291869 + Missense_Mutation SNP G G C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 155291869 155291869 G C SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known missense c.305 p.C102S 1.000 NULL pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 85 0 0 46 12 20.6897 GON4L 0 genome.wustl.edu 37 1 155735826 155735826 + Silent SNP A A C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 155735826 155735826 A C SNP GON4L ENST00000368331 human ensembl 74_37 -1 known silent c.3438 p.T1146 0.767 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 191 0 0 112 34 23.2877 IQGAP3 0 genome.wustl.edu 37 1 156496285 156496285 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 156496285 156496285 C T SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known missense c.4889 p.R1630Q 0.998 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 44 0 0 13 4 23.5294 RRNAD1 0 genome.wustl.edu 37 1 156704174 156704174 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 156704174 156704174 G A SNP RRNAD1 ENST00000368216 human ensembl 74_37 +1 known missense c.1010 p.R337Q 0.995 NULL NULL - no_errors RRNAD1 HGNC ENSG00000143303 55 0 0 23 10 30.303 SPTA1 0 genome.wustl.edu 37 1 158581121 158581121 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 158581121 158581121 G T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.7193 p.P2398Q 0.873 pfam_EF-hand_Ca_insen 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 89 0 0 43 14 24.5614 PIGM 0 genome.wustl.edu 37 1 160000853 160000853 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 160000853 160000853 G T SNP PIGM ENST00000368090 human ensembl 74_37 -1 known missense c.677 p.A226D 0.147 pfam_Mannosyltransferase_DXD pfam_Mannosyltransferase_DXD - no_errors PIGM HGNC ENSG00000143315 189 0 0 122 36 22.7848 NCSTN 0 genome.wustl.edu 37 1 160326878 160326878 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 160326878 160326878 G A SNP NCSTN ENST00000294785 human ensembl 74_37 +1 known silent c.1842 p.T614 0.004 NULL pfam_Nicastrin - no_errors NCSTN HGNC ENSG00000162736 139 0 0 71 26 26.8041 TMEM82 0 genome.wustl.edu 37 1 16073510 16073510 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 16073510 16073510 C T SNP TMEM82 ENST00000375782 human ensembl 74_37 +1 known silent c.906 p.L302 0.018 NULL NULL - no_errors TMEM82 HGNC ENSG00000162460 89 0 0 57 19 25 ITLN2 0 genome.wustl.edu 37 1 160914969 160914969 + Silent SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 160914969 160914969 C A SNP ITLN2 ENST00000368029 human ensembl 74_37 -1 known silent c.939 p.R313 0.983 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom - no_errors ITLN2 HGNC ENSG00000158764 60 0 0 22 8 26.6667 PVRL4 0 genome.wustl.edu 37 1 161046146 161046146 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 161046146 161046146 G A SNP PVRL4 ENST00000368012 human ensembl 74_37 -1 known missense c.850 p.R284W 0.998 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PVRL4 HGNC ENSG00000143217 54 0 0 43 14 24.5614 C1orf111 0 genome.wustl.edu 37 1 162344317 162344317 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 162344317 162344317 C T SNP C1orf111 ENST00000367935 human ensembl 74_37 -1 known missense c.307 p.V103M 0.479 NULL NULL - no_errors C1orf111 HGNC ENSG00000171722 302 0 0 179 44 19.7309 HSPB7 0 genome.wustl.edu 37 1 16342093 16342093 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 16342093 16342093 C T SNP HSPB7 ENST00000487046 human ensembl 74_37 -1 known silent c.510 p.R170 1.000 superfamily_HSP20-like_chaperone pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB7 HGNC ENSG00000173641 81 0 0 38 18 32.1429 CROCCP2 0 genome.wustl.edu 37 1 16945763 16945763 + RNA SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 16945763 16945763 G A SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 80 0 0 49 6 10.9091 ATP13A2 0 genome.wustl.edu 37 1 17332225 17332225 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 17332225 17332225 G A SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known missense c.59 p.T20M 0.996 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A2 HGNC ENSG00000159363 32 0 0 26 11 29.7297 PADI2 0 genome.wustl.edu 37 1 17411114 17411114 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 17411114 17411114 G A SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known silent c.918 p.P306 0.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 15 0 0 5 7 58.3333 ASTN1 0 genome.wustl.edu 37 1 176926901 176926901 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 176926901 176926901 C T SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known silent c.1824 p.P608 0.111 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 62 0 0 27 8 22.8571 RALGPS2 0 genome.wustl.edu 37 1 178777241 178777241 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 178777241 178777241 C T SNP RALGPS2 ENST00000367635 human ensembl 74_37 +1 known missense c.275 p.A92V 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC ENSG00000116191 49 0 0 36 9 20 CEP350 0 genome.wustl.edu 37 1 179983022 179983022 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 179983022 179983022 C T SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known silent c.1434 p.D478 0.971 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 105 0 0 46 16 25.8065 LHX4 0 genome.wustl.edu 37 1 180235529 180235529 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 180235529 180235529 G A SNP LHX4 ENST00000263726 human ensembl 74_37 +1 known missense c.251 p.R84H 1.000 pfam_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX4 HGNC ENSG00000121454 99 0 0 67 23 25.5556 GABRD 0 genome.wustl.edu 37 1 1961191 1961191 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 1961191 1961191 C T SNP GABRD ENST00000378585 human ensembl 74_37 +1 known missense c.1049 p.P350L 0.839 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAd_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC ENSG00000187730 70 0 0 44 15 25.4237 CFHR1 0 genome.wustl.edu 37 1 196801077 196801077 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 196801077 196801077 G A SNP CFHR1 ENST00000320493 human ensembl 74_37 +1 known missense c.941 p.R314Q 0.005 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR1 HGNC ENSG00000244414 59 0 0 26 11 29.7297 CACNA1S 0 genome.wustl.edu 37 1 201043736 201043736 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 201043736 201043736 T C SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.1961 p.N654S 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 36 0 0 19 9 32.1429 ADIPOR1 0 genome.wustl.edu 37 1 202920166 202920166 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 202920166 202920166 C A SNP ADIPOR1 ENST00000340990 human ensembl 74_37 -1 known missense c.33 p.Q11H 1.000 NULL pfam_HlyIII-related - no_errors ADIPOR1 HGNC ENSG00000159346 129 0 0 111 7 5.9322 PPFIA4 0 genome.wustl.edu 37 1 203008205 203008205 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 203008205 203008205 C T SNP PPFIA4 ENST00000367240 human ensembl 74_37 +1 novel silent c.69 p.D23 0.994 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_Prefoldin,smart_SAM,pfscan_SAM - no_errors PPFIA4 HGNC ENSG00000143847 25 0 0 14 4 22.2222 CNTN2 0 genome.wustl.edu 37 1 205031679 205031679 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 205031679 205031679 G A SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known missense c.1222 p.A408T 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 71 0 0 44 11 20 KLHDC8A 0 genome.wustl.edu 37 1 205308421 205308421 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 205308421 205308421 G T SNP KLHDC8A ENST00000367155 human ensembl 74_37 -1 known missense c.658 p.L220M 0.001 smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8A HGNC ENSG00000162873 68 0 0 52 10 16.129 MAPKAPK2 0 genome.wustl.edu 37 1 206905315 206905315 + RNA SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 206905315 206905315 C T SNP MAPKAPK2 ENST00000479009 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors MAPKAPK2 HGNC ENSG00000162889 187 0 0 116 40 25.641 C4BPA 0 genome.wustl.edu 37 1 207287497 207287497 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 207287497 207287497 G A SNP C4BPA ENST00000367070 human ensembl 74_37 +1 known silent c.195 p.T65 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPA HGNC ENSG00000123838 141 0 0 71 38 34.8624 CR2 0 genome.wustl.edu 37 1 207643042 207643042 + Missense_Mutation SNP A A T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 207643042 207643042 A T SNP CR2 ENST00000367057 human ensembl 74_37 +1 known missense c.820 p.I274F 1.000 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 89 0 0 50 15 23.0769 CR1 0 genome.wustl.edu 37 1 207700196 207700196 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 207700196 207700196 G A SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.985 p.G329S 0.718 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 231 0 0 136 43 24.0223 PRKCZ 0 genome.wustl.edu 37 1 2077501 2077501 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 2077501 2077501 C T SNP PRKCZ ENST00000378567 human ensembl 74_37 +1 known silent c.588 p.D196 0.983 pirsf_PKC_zeta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCZ HGNC ENSG00000067606 99 0 0 59 15 20.2703 KIF17 0 genome.wustl.edu 37 1 21011475 21011475 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 21011475 21011475 C T SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known silent c.2058 p.V686 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 25 0 0 12 4 25 PTPN14 0 genome.wustl.edu 37 1 214557469 214557469 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 214557469 214557469 T C SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known missense c.1729 p.T577A 1.000 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 75 0 0 42 20 32.2581 PTPN14 0 genome.wustl.edu 37 1 214706334 214706334 + RNA SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 214706334 214706334 C A SNP PTPN14 ENST00000491277 human ensembl 74_37 -1 putative rna NULL NULL 0.894 - - - no_errors PTPN14 HGNC ENSG00000152104 19 0 0 27 8 22.8571 RAP1GAP 0 genome.wustl.edu 37 1 21929337 21929337 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 21929337 21929337 C T SNP RAP1GAP ENST00000290101 human ensembl 74_37 -1 known missense c.1690 p.A564T 1.000 NULL pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom - no_errors RAP1GAP HGNC ENSG00000076864 75 0 0 51 14 21.5385 EPRS 0 genome.wustl.edu 37 1 220191840 220191840 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 220191840 220191840 C T SNP EPRS ENST00000366923 human ensembl 74_37 -1 known missense c.1445 p.R482H 1.000 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-synth_arc/euk pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 84 0 0 40 13 24.5283 TMEM63A 0 genome.wustl.edu 37 1 226062014 226062014 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 226062014 226062014 G A SNP TMEM63A ENST00000366835 human ensembl 74_37 -1 known silent c.240 p.R80 0.990 NULL pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 75 0 0 40 8 16.6667 PARP1 0 genome.wustl.edu 37 1 226561998 226561998 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 226561998 226561998 T C SNP PARP1 ENST00000366794 human ensembl 74_37 -1 known missense c.1999 p.K667E 1.000 pfam_Poly(ADP-ribose)pol_reg_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,pirsf_NAD_ADPRT,pfscan_Poly(ADP-ribose)pol_reg_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 59 0 0 31 16 34.0426 OBSCN 0 genome.wustl.edu 37 1 228564859 228564859 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 228564859 228564859 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.23146 p.E7716K 0.997 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 30 0 0 25 7 21.875 CAPN9 0 genome.wustl.edu 37 1 230937365 230937365 + RNA SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 230937365 230937365 C A SNP CAPN9 ENST00000480004 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CAPN9 HGNC ENSG00000135773 84 0 0 41 15 26.7857 TTC13 0 genome.wustl.edu 37 1 231060705 231060705 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 231060705 231060705 C T SNP TTC13 ENST00000366661 human ensembl 74_37 -1 known missense c.1603 p.A535T 0.954 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC13 HGNC ENSG00000143643 118 0 0 91 24 20.8696 SIPA1L2 0 genome.wustl.edu 37 1 232564165 232564165 + Nonsense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 232564165 232564165 G A SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known nonsense c.4402 p.R1468* 0.975 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 53 0 0 30 14 31.8182 SIPA1L2 0 genome.wustl.edu 37 1 232579387 232579387 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 232579387 232579387 C T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.3398 p.G1133D 0.586 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 95 0 0 65 19 22.619 SIPA1L2 0 genome.wustl.edu 37 1 232581486 232581486 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 232581486 232581486 C T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.3142 p.D1048N 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 212 0 0 104 38 26.7606 SIPA1L2 0 genome.wustl.edu 37 1 232650347 232650347 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 232650347 232650347 C T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.739 p.A247T 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 112 0 0 71 12 14.4578 HTR1D 0 genome.wustl.edu 37 1 23519991 23519991 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 23519991 23519991 G A SNP HTR1D ENST00000314113 human ensembl 74_37 -1 known missense c.722 p.T241M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1D_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt - no_errors HTR1D HGNC ENSG00000179546 95 0 0 52 22 29.7297 ASAP3 0 genome.wustl.edu 37 1 23782429 23782429 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 23782429 23782429 C T SNP ASAP3 ENST00000336689 human ensembl 74_37 -1 known missense c.293 p.G98D 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 156 0 0 94 43 31.3869 RYR2 0 genome.wustl.edu 37 1 237872296 237872296 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 237872296 237872296 A G SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.10034 p.D3345G 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 29 0 0 22 6 21.4286 PITHD1 0 genome.wustl.edu 37 1 24112812 24112812 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 24112812 24112812 C T SNP PITHD1 ENST00000246151 human ensembl 74_37 +1 known missense c.433 p.R145C 1.000 pfam_PITH_dom,superfamily_Galactose-bd-like pfam_PITH_dom,superfamily_Galactose-bd-like - no_errors PITHD1 HGNC ENSG00000057757 28 0 0 9 2 18.1818 C1orf101 0 genome.wustl.edu 37 1 244715736 244715736 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 244715736 244715736 T C SNP C1orf101 ENST00000366531 human ensembl 74_37 +1 known missense c.196 p.F66L 0.000 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 80 0 0 43 9 17.3077 COX20 0 genome.wustl.edu 37 1 245005310 245005310 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 245005310 245005310 A G SNP COX20 ENST00000411948 human ensembl 74_37 +1 known missense c.107 p.Y36C 1.000 pfam_Cox20/FAM36A,prints_FAM36A pfam_Cox20/FAM36A,prints_FAM36A - no_errors COX20 HGNC ENSG00000203667 51 0 0 31 11 26.1905 KIF26B 0 genome.wustl.edu 37 1 245848855 245848855 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 245848855 245848855 G A SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.2570 p.S857N 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 100 0 0 44 13 22.807 OR2B11 0 genome.wustl.edu 37 1 247614785 247614785 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 247614785 247614785 G A SNP OR2B11 ENST00000318749 human ensembl 74_37 -1 known missense c.500 p.T167M 0.017 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B11 HGNC ENSG00000177535 74 0 0 60 14 18.9189 OR2L2 0 genome.wustl.edu 37 1 248202418 248202418 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 248202418 248202418 G A SNP OR2L2 ENST00000366479 human ensembl 74_37 +1 known missense c.849 p.M283I 0.065 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L2 HGNC ENSG00000203663 143 1 0.694444 88 27 23.4783 SEPN1 0 genome.wustl.edu 37 1 26135266 26135266 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 26135266 26135266 C T SNP SEPN1 ENST00000354177 human ensembl 74_37 +1 known missense c.631 p.P211S 1.000 NULL pfscan_EF_hand_dom - no_errors SEPN1 HGNC ENSG00000162430 118 0 0 91 26 22.2222 FGR 0 genome.wustl.edu 37 1 27939528 27939528 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 27939528 27939528 C T SNP FGR ENST00000374003 human ensembl 74_37 -1 known missense c.1487 p.R496H 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_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FGR HGNC ENSG00000000938 77 0 0 48 19 28.3582 EPB41 0 genome.wustl.edu 37 1 29391662 29391662 + Nonsense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 29391662 29391662 G T SNP EPB41 ENST00000343067 human ensembl 74_37 +1 known nonsense c.2176 p.G726* 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 82 0 0 31 7 18.4211 PTPRU 0 genome.wustl.edu 37 1 29639169 29639169 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 29639169 29639169 G A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.3208 p.V1070M 0.998 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 41 0 0 22 6 21.4286 SPOCD1 0 genome.wustl.edu 37 1 32280862 32280862 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 32280862 32280862 G A SNP SPOCD1 ENST00000360482 human ensembl 74_37 -1 known missense c.73 p.L25F 0.005 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 80 0 0 58 15 20.5479 ZBTB8OS 0 genome.wustl.edu 37 1 33116139 33116139 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 33116139 33116139 G A SNP ZBTB8OS ENST00000468695 human ensembl 74_37 -1 known missense c.28 p.P10S 0.000 NULL pfam_Archease_dom,superfamily_Archease_dom - no_errors ZBTB8OS HGNC ENSG00000176261 176 0 0 95 35 26.9231 HPCA 0 genome.wustl.edu 37 1 33363951 33363951 + RNA SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 33363951 33363951 G A SNP HPCA ENST00000470896 human ensembl 74_37 +1 known rna NULL NULL 0.026 - - - no_errors HPCA HGNC ENSG00000121905 57 0 0 37 11 22.9167 DLGAP3 0 genome.wustl.edu 37 1 35334426 35334426 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 35334426 35334426 C T SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known silent c.2265 p.S755 0.005 pfam_GKAP pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 37 0 0 15 4 21.0526 ZMYM1 0 genome.wustl.edu 37 1 35578792 35578792 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 35578792 35578792 G A SNP ZMYM1 ENST00000359858 human ensembl 74_37 +1 novel missense c.1361 p.R454Q 0.001 NULL pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM1 HGNC ENSG00000197056 45 0 0 28 10 26.3158 ZMYM4 0 genome.wustl.edu 37 1 35885120 35885120 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 35885120 35885120 C T SNP ZMYM4 ENST00000314607 human ensembl 74_37 +1 known missense c.4489 p.R1497C 1.000 pfam_DUF3504 pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 97 0 0 55 16 22.5352 THRAP3 0 genome.wustl.edu 37 1 36757044 36757044 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 36757044 36757044 G T SNP THRAP3 ENST00000354618 human ensembl 74_37 +1 known missense c.1815 p.Q605H 1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 71 0 0 25 16 39.0244 GNL2 0 genome.wustl.edu 37 1 38033290 38033290 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 38033290 38033290 G A SNP GNL2 ENST00000373062 human ensembl 74_37 -1 known missense c.2027 p.A676V 0.001 NULL pfam_NOG2_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL2 HGNC ENSG00000134697 89 0 0 53 19 26.3889 RSPO1 0 genome.wustl.edu 37 1 38082196 38082196 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 38082196 38082196 T C SNP RSPO1 ENST00000356545 human ensembl 74_37 -1 known silent c.246 p.G82 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO1 HGNC ENSG00000169218 151 0 0 94 22 18.9655 NDUFS5 0 genome.wustl.edu 37 1 39494443 39494443 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 39494443 39494443 G A SNP NDUFS5 ENST00000372967 human ensembl 74_37 +1 known missense c.47 p.R16Q 0.001 pfam_NADH_UbQ_OxRdtase_FeS-su5 pfam_NADH_UbQ_OxRdtase_FeS-su5,pfam_Cyt_c_biogenesis_Cmc1-like - no_errors NDUFS5 HGNC ENSG00000168653 87 0 0 52 25 32.4675 FOXJ3 0 genome.wustl.edu 37 1 42664774 42664774 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 42664774 42664774 G A SNP FOXJ3 ENST00000361346 human ensembl 74_37 -1 known missense c.758 p.P253L 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ3 HGNC ENSG00000198815 54 0 0 18 8 30.7692 SLC2A1 0 genome.wustl.edu 37 1 43395570 43395570 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 43395570 43395570 C T SNP SLC2A1 ENST00000426263 human ensembl 74_37 -1 known missense c.653 p.R218H 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC ENSG00000117394 148 0 0 98 36 26.8657 EBNA1BP2 0 genome.wustl.edu 37 1 43637888 43637888 + RNA SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 43637888 43637888 A G SNP EBNA1BP2 ENST00000472982 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EBNA1BP2 HGNC ENSG00000117395 16 0 0 11 5 31.25 TIE1 0 genome.wustl.edu 37 1 43770734 43770734 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 43770734 43770734 C T SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.271 p.R91C 0.224 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 38 0 0 25 10 28.5714 PTPRF 0 genome.wustl.edu 37 1 44069129 44069129 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 44069129 44069129 G A SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.2383 p.V795I 0.976 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 139 0 0 87 26 23.0088 ERI3 0 genome.wustl.edu 37 1 44713629 44713629 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 44713629 44713629 G A SNP ERI3 ENST00000372257 human ensembl 74_37 -1 known missense c.913 p.R305W 1.000 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI3 HGNC ENSG00000117419 95 0 0 54 24 30.7692 MAST2 0 genome.wustl.edu 37 1 46497141 46497141 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 46497141 46497141 G A SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known missense c.3071 p.R1024H 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 66 0 0 50 28 35.8974 CYP4A22 0 genome.wustl.edu 37 1 47610301 47610301 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 47610301 47610301 C T SNP CYP4A22 ENST00000371891 human ensembl 74_37 +1 known missense c.977 p.T326I 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A22 HGNC ENSG00000162365 134 0 0 87 13 13 FOXD2 0 genome.wustl.edu 37 1 47905016 47905016 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 47905016 47905016 C T SNP FOXD2 ENST00000334793 human ensembl 74_37 +1 known silent c.1209 p.G403 0.995 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD2 HGNC ENSG00000186564 16 0 0 7 6 46.1538 SLC5A9 0 genome.wustl.edu 37 1 48697257 48697257 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 48697257 48697257 G A SNP SLC5A9 ENST00000236495 human ensembl 74_37 +1 known silent c.726 p.T242 0.002 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 83 0 0 56 15 21.1268 ELAVL4 0 genome.wustl.edu 37 1 50610682 50610682 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 50610682 50610682 C T SNP ELAVL4 ENST00000371821 human ensembl 74_37 +1 known silent c.78 p.S26 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL4 HGNC ENSG00000162374 68 0 0 39 21 35 ZFYVE9 0 genome.wustl.edu 37 1 52704611 52704611 + Missense_Mutation SNP A A C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 52704611 52704611 A C SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known missense c.1522 p.I508L 1.000 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 78 0 0 32 19 37.2549 MYSM1 0 genome.wustl.edu 37 1 59131250 59131250 + Silent SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 59131250 59131250 A G SNP MYSM1 ENST00000472487 human ensembl 74_37 -1 known silent c.2085 p.Y695 1.000 smart_JAB_MPN_dom pfam_SWIRM,pfam_JAB_MPN_dom,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB_MPN_dom,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors MYSM1 HGNC ENSG00000162601 76 0 0 44 9 16.9811 KANK4 0 genome.wustl.edu 37 1 62739457 62739457 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 62739457 62739457 A G SNP KANK4 ENST00000371153 human ensembl 74_37 -1 known missense c.1319 p.M440T 0.000 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 305 0 0 151 57 27.4038 LEPROT 0 genome.wustl.edu 37 1 65895721 65895721 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 65895721 65895721 G A SNP LEPROT ENST00000371065 human ensembl 74_37 +1 known missense c.269 p.R90H 0.992 pfam_VPS55 pfam_VPS55 - no_errors LEPROT HGNC ENSG00000213625 225 0 0 151 39 20.5263 LRRC7 0 genome.wustl.edu 37 1 70504499 70504499 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 70504499 70504499 G A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.2878 p.V960M 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 83 0 0 29 19 39.5833 IFI44L 0 genome.wustl.edu 37 1 79107202 79107202 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 79107202 79107202 A G SNP IFI44L ENST00000370751 human ensembl 74_37 +1 known missense c.1232 p.D411G 0.393 NULL superfamily_P-loop_NTPase - no_errors IFI44L HGNC ENSG00000137959 79 0 0 32 14 30.4348 TTLL7 0 genome.wustl.edu 37 1 84412914 84412914 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 84412914 84412914 G A SNP TTLL7 ENST00000260505 human ensembl 74_37 -1 known silent c.399 p.I133 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 63 0 0 27 7 20.5882 SEP15 0 genome.wustl.edu 37 1 87369115 87369115 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 87369115 87369115 G A SNP SEP15 ENST00000401030 human ensembl 74_37 -1 known missense c.92 p.A31V 1.000 NULL NULL - no_errors SEP15 Uniprot_gn ENSG00000183291 22 0 0 14 2 12.5 GBP7 0 genome.wustl.edu 37 1 89616127 89616127 + Nonsense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 89616127 89616127 G A SNP GBP7 ENST00000294671 human ensembl 74_37 -1 known nonsense c.757 p.R253* 0.002 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP7 HGNC ENSG00000213512 65 0 0 43 11 20.3704 GBP5 0 genome.wustl.edu 37 1 89735134 89735134 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 89735134 89735134 C T SNP GBP5 ENST00000343435 human ensembl 74_37 -1 known silent c.105 p.T35 0.000 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP5 HGNC ENSG00000154451 226 0 0 127 46 26.5896 SLC2A7 0 genome.wustl.edu 37 1 9067390 9067390 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 9067390 9067390 C T SNP SLC2A7 ENST00000400906 human ensembl 74_37 -1 known missense c.1171 p.A391T 0.116 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A7 HGNC ENSG00000197241 102 0 0 65 15 18.75 GPR157 0 genome.wustl.edu 37 1 9164630 9164630 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 9164630 9164630 C T SNP GPR157 ENST00000377411 human ensembl 74_37 -1 known missense c.856 p.V286I 0.377 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_Rhodpsn,pfam_Frizzled,pfscan_GPCR_Rhodpsn_7TM,pfscan_GPCR_2-like,prints_GCR1-cAMP_receptor - no_errors GPR157 HGNC ENSG00000180758 46 0 0 27 7 20.5882 H6PD 0 genome.wustl.edu 37 1 9307076 9307076 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 9307076 9307076 G A SNP H6PD ENST00000377403 human ensembl 74_37 +1 known missense c.679 p.G227S 0.901 pfam_G6P_DH_C pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 155 0 0 89 32 26.4463 H6PD 0 genome.wustl.edu 37 1 9324704 9324704 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 9324704 9324704 C T SNP H6PD ENST00000377403 human ensembl 74_37 +1 known silent c.2152 p.L718 0.999 tigrfam_6-phosphogluconolactonase_DevB pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 115 0 0 60 22 26.8293 DPYD 0 genome.wustl.edu 37 1 98058781 98058781 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 98058781 98058781 G T SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.1121 p.P374H 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 119 0 0 58 27 31.7647 LPPR4 0 genome.wustl.edu 37 1 99771804 99771804 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 99771804 99771804 C T SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known silent c.1530 p.P510 0.284 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 403 0 0 259 70 21.2766 LDB1 0 genome.wustl.edu 37 10 103868036 103868036 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 103868036 103868036 G A SNP LDB1 ENST00000425280 human ensembl 74_37 -1 known silent c.1050 p.F350 1.000 NULL NULL - no_errors LDB1 HGNC ENSG00000198728 75 0 0 39 18 31.5789 PPRC1 0 genome.wustl.edu 37 10 103908352 103908352 + RNA SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 103908352 103908352 G A SNP PPRC1 ENST00000495914 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PPRC1 HGNC ENSG00000148840 187 0 0 104 25 19.3798 PDCD11 0 genome.wustl.edu 37 10 105184857 105184857 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 105184857 105184857 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known silent c.2880 p.N960 0.959 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 88 0 0 65 21 24.4186 CALHM2 0 genome.wustl.edu 37 10 105207116 105207116 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 105207116 105207116 C T SNP CALHM2 ENST00000260743 human ensembl 74_37 -1 known silent c.765 p.A255 0.011 NULL NULL - no_errors CALHM2 HGNC ENSG00000138172 135 0 0 72 26 26.5306 COL17A1 0 genome.wustl.edu 37 10 105815734 105815734 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 105815734 105815734 C T SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known missense c.1493 p.R498H 0.858 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 187 0 0 120 39 24.5283 ITPRIP 0 genome.wustl.edu 37 10 106075664 106075664 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 106075664 106075664 T C SNP ITPRIP ENST00000278071 human ensembl 74_37 -1 known missense c.146 p.Q49R 1.000 NULL NULL - no_errors ITPRIP HGNC ENSG00000148841 145 0 0 106 29 21.4815 ABLIM1 0 genome.wustl.edu 37 10 116417865 116417865 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 116417865 116417865 G A SNP ABLIM1 ENST00000277895 human ensembl 74_37 -1 known missense c.95 p.S32L 0.120 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 119 0 0 76 32 29.6296 GFRA1 0 genome.wustl.edu 37 10 117884986 117884986 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 117884986 117884986 C T SNP GFRA1 ENST00000355422 human ensembl 74_37 -1 known silent c.516 p.S172 0.051 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC ENSG00000151892 56 0 0 36 8 18.1818 RGS10 0 genome.wustl.edu 37 10 121286832 121286832 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 121286832 121286832 C T SNP RGS10 ENST00000369103 human ensembl 74_37 -1 known missense c.154 p.V52M 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS10 HGNC ENSG00000148908 53 0 0 24 7 22.5806 PLEKHA1 0 genome.wustl.edu 37 10 124152742 124152742 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 124152742 124152742 G A SNP PLEKHA1 ENST00000368990 human ensembl 74_37 +1 known missense c.26 p.R9H 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA1 HGNC ENSG00000107679 62 0 0 19 7 26.9231 CPXM2 0 genome.wustl.edu 37 10 125528005 125528005 + RNA SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 125528005 125528005 C T SNP CPXM2 ENST00000368854 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CPXM2 HGNC ENSG00000121898 49 0 0 22 11 33.3333 C10orf90 0 genome.wustl.edu 37 10 128192609 128192609 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 128192609 128192609 T C SNP C10orf90 ENST00000544758 human ensembl 74_37 -1 known missense c.1451 p.E484G 0.000 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 114 0 0 61 29 32.2222 MKI67 0 genome.wustl.edu 37 10 129914169 129914169 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 129914169 129914169 G A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.503 p.A168V 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 128 0 0 61 26 29.8851 MKI67 0 genome.wustl.edu 37 10 129921193 129921193 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 129921193 129921193 A G SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.239 p.V80A 0.011 pfam_FHA_dom,superfamily_SMAD_FHA_domain pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 68 0 0 18 6 25 DPYSL4 0 genome.wustl.edu 37 10 134015485 134015485 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 134015485 134015485 G A SNP DPYSL4 ENST00000338492 human ensembl 74_37 +1 known silent c.1146 p.A382 0.003 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL4 HGNC ENSG00000151640 126 0 0 84 26 23.6364 KNDC1 0 genome.wustl.edu 37 10 134981025 134981025 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 134981025 134981025 G A SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known silent c.243 p.T81 0.810 smart_KIND pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 18 0 0 13 6 31.5789 CUBN 0 genome.wustl.edu 37 10 16916494 16916494 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 16916494 16916494 C A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.9115 p.G3039C 0.675 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 95 0 0 62 17 21.519 CUBN 0 genome.wustl.edu 37 10 16942694 16942694 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 16942694 16942694 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.8340 p.V2780 0.034 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 81 0 0 79 14 15.0538 SPAG6 0 genome.wustl.edu 37 10 22634782 22634782 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 22634782 22634782 C T SNP SPAG6 ENST00000376603 human ensembl 74_37 +1 known silent c.156 p.R52 0.000 NULL pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo - no_errors SPAG6 HGNC ENSG00000077327 33 0 0 15 10 40 SVIL 0 genome.wustl.edu 37 10 29754536 29754536 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 29754536 29754536 C T SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.6121 p.A2041T 0.989 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 95 0 0 40 27 40.2985 ZEB1 0 genome.wustl.edu 37 10 31815671 31815671 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 31815671 31815671 C T SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known nonsense c.2857 p.R953* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 52 0 0 24 4 14.2857 ITGB1 0 genome.wustl.edu 37 10 33211578 33211578 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 33211578 33211578 G T SNP ITGB1 ENST00000374956 human ensembl 74_37 -1 known missense c.1028 p.P343H 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB1 HGNC ENSG00000150093 33 0 0 12 2 14.2857 DIP2C 0 genome.wustl.edu 37 10 395292 395292 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 395292 395292 C T SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known missense c.3088 p.V1030M 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 55 0 0 28 17 37.7778 DIP2C 0 genome.wustl.edu 37 10 410407 410407 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 410407 410407 C T SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known missense c.2384 p.G795D 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 146 0 0 99 24 19.5122 ZNF485 0 genome.wustl.edu 37 10 44112703 44112703 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 44112703 44112703 T C SNP ZNF485 ENST00000361807 human ensembl 74_37 +1 known silent c.1212 p.H404 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF485 HGNC ENSG00000198298 63 0 0 44 19 30.1587 AKR1C1 0 genome.wustl.edu 37 10 5014777 5014777 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 5014777 5014777 G A SNP AKR1C1 ENST00000380872 human ensembl 74_37 +1 known missense c.682 p.V228M 0.982 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C1 HGNC ENSG00000187134 165 0 0 94 30 24.1935 CALML5 0 genome.wustl.edu 37 10 5541225 5541225 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 5541225 5541225 G A SNP CALML5 ENST00000380332 human ensembl 74_37 -1 known silent c.177 p.D59 0.261 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALML5 HGNC ENSG00000178372 138 0 0 86 38 30.6452 PCDH15 0 genome.wustl.edu 37 10 55581859 55581859 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 55581859 55581859 T C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.5627 p.Q1876R 0.417 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 176 1 0.564972 66 28 29.7872 SFMBT2 0 genome.wustl.edu 37 10 7214497 7214497 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 7214497 7214497 C T SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.2111 p.R704Q 1.000 superfamily_ARM-type_fold pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 68 0 0 27 18 40 CDH23 0 genome.wustl.edu 37 10 73544152 73544152 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 73544152 73544152 G A SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.5492 p.R1831Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 99 0 0 57 19 25 CHST3 0 genome.wustl.edu 37 10 73767281 73767281 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 73767281 73767281 G A SNP CHST3 ENST00000373115 human ensembl 74_37 +1 known silent c.492 p.P164 0.425 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 54 0 0 30 11 26.8293 DNAJC9-AS1 0 genome.wustl.edu 37 10 75035130 75035130 + RNA SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 75035130 75035130 C T SNP DNAJC9-AS1 ENST00000440197 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DNAJC9-AS1 HGNC ENSG00000236756 42 0 0 25 17 40.4762 ANXA7 0 genome.wustl.edu 37 10 75143004 75143004 + Nonsense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 75143004 75143004 G A SNP ANXA7 ENST00000372919 human ensembl 74_37 -1 known nonsense c.913 p.R305* 0.870 pfam_Annexin_repeat,smart_Annexin_repeat,prints_AnnexinIV pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVII,prints_AnnexinIV - no_errors ANXA7 HGNC ENSG00000138279 70 0 0 28 5 15.1515 TSPAN14 0 genome.wustl.edu 37 10 82269142 82269142 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 82269142 82269142 G A SNP TSPAN14 ENST00000372156 human ensembl 74_37 +1 known missense c.365 p.R122Q 0.998 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN14 HGNC ENSG00000108219 78 0 0 54 22 28.9474 MMRN2 0 genome.wustl.edu 37 10 88702923 88702923 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 88702923 88702923 C T SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known missense c.1618 p.V540M 0.007 superfamily_tRNA-bd_arm pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 36 0 0 24 13 35.1351 ACTA2-AS1 0 genome.wustl.edu 37 10 90699177 90699177 + RNA SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 90699177 90699177 G A SNP ACTA2-AS1 ENST00000437930 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors ACTA2-AS1 HGNC ENSG00000180139 59 0 0 41 11 21.1538 MYOF 0 genome.wustl.edu 37 10 95097652 95097652 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 95097652 95097652 A G SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.4357 p.W1453R 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 143 0 0 73 18 19.7802 PDLIM1 0 genome.wustl.edu 37 10 96997770 96997770 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 96997770 96997770 A G SNP PDLIM1 ENST00000329399 human ensembl 74_37 -1 known missense c.902 p.V301A 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM1 HGNC ENSG00000107438 37 0 0 27 10 27.027 SORBS1 0 genome.wustl.edu 37 10 97096555 97096555 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 97096555 97096555 C T SNP SORBS1 ENST00000361941 human ensembl 74_37 -1 known missense c.3362 p.R1121H 0.729 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 82 0 0 50 23 31.5068 TCTN3 0 genome.wustl.edu 37 10 97423995 97423995 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 97423995 97423995 C T SNP TCTN3 ENST00000371217 human ensembl 74_37 -1 known silent c.1653 p.Q551 1.000 NULL pfam_DUF1619 - no_errors TCTN3 HGNC ENSG00000119977 327 0 0 231 65 21.9595 ANGPTL5 0 genome.wustl.edu 37 11 101775632 101775632 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 101775632 101775632 C T SNP ANGPTL5 ENST00000334289 human ensembl 74_37 -1 known missense c.352 p.E118K 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL5 HGNC ENSG00000187151 58 0 0 37 7 15.9091 KIAA1377 0 genome.wustl.edu 37 11 101834251 101834251 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 101834251 101834251 C T SNP KIAA1377 ENST00000263468 human ensembl 74_37 +1 known missense c.2485 p.P829S 0.070 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 49 0 0 29 9 23.6842 MUC2 0 genome.wustl.edu 37 11 1090881 1090881 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 1090881 1090881 C T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.3776 p.T1259M 0.003 NULL 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 65 0 0 39 16 29.0909 DRD2 0 genome.wustl.edu 37 11 113295137 113295137 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 113295137 113295137 G A SNP DRD2 ENST00000355319 human ensembl 74_37 -1 known silent c.237 p.A79 0.531 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD2 HGNC ENSG00000149295 78 0 0 57 21 26.9231 HTR3A 0 genome.wustl.edu 37 11 113857318 113857318 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 113857318 113857318 G A SNP HTR3A ENST00000355556 human ensembl 74_37 +1 known missense c.802 p.V268M 0.997 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 140 0 0 58 26 30.9524 HTR3A 0 genome.wustl.edu 37 11 113857683 113857683 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 113857683 113857683 C T SNP HTR3A ENST00000355556 human ensembl 74_37 +1 known silent c.1167 p.I389 0.001 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 100 0 0 49 12 19.6721 TMPRSS13 0 genome.wustl.edu 37 11 117780651 117780651 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 117780651 117780651 C T SNP TMPRSS13 ENST00000445164 human ensembl 74_37 -1 known missense c.979 p.V327M 1.000 pirsf_Peptidase_S1A_TMPRSS13,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Peptidase_S1A_TMPRSS13,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SRCR,pfscan_Peptidase_S1 - no_errors TMPRSS13 HGNC ENSG00000137747 100 0 0 50 26 34.2105 IL10RA 0 genome.wustl.edu 37 11 117869864 117869864 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 117869864 117869864 C T SNP IL10RA ENST00000227752 human ensembl 74_37 +1 known silent c.1245 p.D415 0.000 NULL superfamily_Fibronectin_type3 - no_errors IL10RA HGNC ENSG00000110324 83 0 0 63 19 23.1707 VWA5A 0 genome.wustl.edu 37 11 124016059 124016059 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 124016059 124016059 G A SNP VWA5A ENST00000392748 human ensembl 74_37 +1 known missense c.2270 p.R757H 0.000 NULL pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC ENSG00000110002 65 0 0 57 12 17.3913 SPA17 0 genome.wustl.edu 37 11 124564263 124564263 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 124564263 124564263 G A SNP SPA17 ENST00000227135 human ensembl 74_37 +1 putative missense c.377 p.R126Q 1.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pirsf_Sp17,pfscan_IQ_motif_EF-hand-BS pfam_cAMP_dep_PK_reg_su_I/II_a/b,pfam_IQ_motif_EF-hand-BS,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_P-loop_NTPase,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_IQ_motif_EF-hand-BS,pirsf_Sp17,pfscan_IQ_motif_EF-hand-BS - no_errors SPA17 HGNC ENSG00000064199 146 1 0.680272 74 13 14.9425 ROBO3 0 genome.wustl.edu 37 11 124750398 124750398 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 124750398 124750398 C T SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known missense c.4043 p.S1348F 0.998 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 16 0 0 10 3 23.0769 PKNOX2 0 genome.wustl.edu 37 11 125301348 125301348 + RNA SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 125301348 125301348 C T SNP PKNOX2 ENST00000530517 human ensembl 74_37 +1 known rna NULL NULL 0.888 - - - no_errors PKNOX2 HGNC ENSG00000165495 35 0 0 13 6 31.5789 MUC5B 0 genome.wustl.edu 37 11 1267081 1267081 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 1267081 1267081 T C SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.8980 p.W2994R 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,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 MUC5B HGNC ENSG00000117983 428 0 0 248 92 27.0588 ARNTL 0 genome.wustl.edu 37 11 13398205 13398205 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 13398205 13398205 C T SNP ARNTL ENST00000389708 human ensembl 74_37 +1 known missense c.1439 p.A480V 1.000 NULL pfam_PAS_fold,pfam_PAS_fold_3,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors ARNTL HGNC ENSG00000133794 247 0 0 148 54 26.7327 COPB1 0 genome.wustl.edu 37 11 14502625 14502625 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 14502625 14502625 G A SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known silent c.976 p.L326 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 70 0 0 40 10 20 INSC 0 genome.wustl.edu 37 11 15170767 15170767 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 15170767 15170767 C A SNP INSC ENST00000379554 human ensembl 74_37 +1 known missense c.188 p.P63Q 0.007 NULL superfamily_ARM-type_fold,smart_Armadillo - no_errors INSC HGNC ENSG00000188487 49 0 0 24 11 31.4286 ABCC8 0 genome.wustl.edu 37 11 17482094 17482094 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 17482094 17482094 G A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known silent c.952 p.L318 1.000 superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 208 0 0 126 45 26.3158 CTSD 0 genome.wustl.edu 37 11 1774895 1774895 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 1774895 1774895 C T SNP CTSD ENST00000236671 human ensembl 74_37 -1 known silent c.1077 p.S359 0.821 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors CTSD HGNC ENSG00000117984 55 0 0 39 16 29.0909 E2F8 0 genome.wustl.edu 37 11 19256571 19256571 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 19256571 19256571 G A SNP E2F8 ENST00000250024 human ensembl 74_37 -1 known silent c.486 p.N162 0.229 pfam_E2F_TDP pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 36 0 0 21 8 27.5862 KIAA1549L 0 genome.wustl.edu 37 11 33565125 33565125 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 33565125 33565125 G A SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known silent c.1125 p.S375 0.758 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 72 0 0 43 13 23.2143 CHRNA10 0 genome.wustl.edu 37 11 3688473 3688473 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 3688473 3688473 A G SNP CHRNA10 ENST00000250699 human ensembl 74_37 -1 known missense c.884 p.V295A 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA10 HGNC ENSG00000129749 29 0 0 13 3 18.75 NUP98 0 genome.wustl.edu 37 11 3800453 3800453 + Missense_Mutation SNP A A C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 3800453 3800453 A C SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.111 p.F37L 1.000 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 240 0 0 123 47 27.6471 PHF21A 0 genome.wustl.edu 37 11 46098321 46098321 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 46098321 46098321 G T SNP PHF21A ENST00000257821 human ensembl 74_37 -1 known missense c.137 p.A46D 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 70 0 0 45 9 16.6667 TRIM68 0 genome.wustl.edu 37 11 4622048 4622048 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 4622048 4622048 G A SNP TRIM68 ENST00000300747 human ensembl 74_37 -1 known missense c.916 p.R306C 0.003 superfamily_ConA-like_lec_gl_sf,smart_PRY,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM68 HGNC ENSG00000167333 57 0 0 40 10 20 CHRM4 0 genome.wustl.edu 37 11 46407356 46407356 + Missense_Mutation SNP T T A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 46407356 46407356 T A SNP CHRM4 ENST00000433765 human ensembl 74_37 -1 known missense c.752 p.K251M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_M4_rcpt - no_errors CHRM4 HGNC ENSG00000180720 24 0 0 23 7 23.3333 MYBPC3 0 genome.wustl.edu 37 11 47357492 47357492 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 47357492 47357492 C T SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known silent c.2673 p.R891 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 12 0 0 9 4 30.7692 MYBPC3 0 genome.wustl.edu 37 11 47364636 47364636 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 47364636 47364636 C T SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known silent c.1287 p.A429 0.049 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 31 0 0 25 8 24.2424 MYBPC3 0 genome.wustl.edu 37 11 47365114 47365114 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 47365114 47365114 G A SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known silent c.1152 p.T384 0.138 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 25 0 0 27 8 22.8571 AGBL2 0 genome.wustl.edu 37 11 47681799 47681799 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 47681799 47681799 T C SNP AGBL2 ENST00000357610 human ensembl 74_37 -1 known missense c.2641 p.R881G 0.051 NULL pfam_Peptidase_M14 - no_errors AGBL2 HGNC ENSG00000165923 100 0 0 40 21 34.4262 OR8H1 0 genome.wustl.edu 37 11 56057917 56057917 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 56057917 56057917 C T SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known missense c.622 p.V208M 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 OR8H1 HGNC ENSG00000181693 126 0 0 85 24 22.0183 OR5M1 0 genome.wustl.edu 37 11 56380954 56380954 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 56380954 56380954 C T SNP OR5M1 ENST00000526538 human ensembl 74_37 -1 known missense c.25 p.V9M 0.023 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M1 HGNC ENSG00000255012 106 0 0 65 21 24.4186 TRIM5 0 genome.wustl.edu 37 11 5701381 5701381 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 5701381 5701381 T C SNP TRIM5 ENST00000305836 human ensembl 74_37 -1 known silent c.27 p.V9 0.430 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM5 HGNC ENSG00000132256 113 0 0 59 18 23.3766 OR5B12 0 genome.wustl.edu 37 11 58207240 58207240 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 58207240 58207240 G A SNP OR5B12 ENST00000302572 human ensembl 74_37 -1 known missense c.385 p.H129Y 0.053 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5B12 HGNC ENSG00000172362 128 0 0 73 20 21.5054 OR56A3 0 genome.wustl.edu 37 11 5968802 5968802 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 5968802 5968802 G A SNP OR56A3 ENST00000329564 human ensembl 74_37 +1 known missense c.226 p.V76M 0.381 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A3 HGNC ENSG00000184478 224 0 0 134 38 22.093 TMEM132A 0 genome.wustl.edu 37 11 60703479 60703479 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 60703479 60703479 C T SNP TMEM132A ENST00000005286 human ensembl 74_37 +1 known silent c.2175 p.L725 0.001 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 73 0 0 46 16 25.8065 CD6 0 genome.wustl.edu 37 11 60777348 60777348 + Splice_Site SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 60777348 60777348 T C SNP CD6 ENST00000313421 human ensembl 74_37 +1 known splice_site c.1084+2 e5+2 1.000 - - - no_errors CD6 HGNC ENSG00000013725 58 0 0 66 6 8.33333 CD5 0 genome.wustl.edu 37 11 60892565 60892565 + Silent SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 60892565 60892565 C A SNP CD5 ENST00000347785 human ensembl 74_37 +1 known silent c.1341 p.S447 0.000 prints_Tcell_CD5 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Tcell_CD5,prints_SRCR - no_errors CD5 HGNC ENSG00000110448 96 0 0 56 15 21.1268 CHRM1 0 genome.wustl.edu 37 11 62677864 62677864 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 62677864 62677864 T C SNP CHRM1 ENST00000306960 human ensembl 74_37 -1 known missense c.709 p.S237G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M1_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM1 HGNC ENSG00000168539 81 0 0 55 22 28.5714 SLC22A8 0 genome.wustl.edu 37 11 62760719 62760719 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 62760719 62760719 C T SNP SLC22A8 ENST00000336232 human ensembl 74_37 -1 known missense c.1619 p.G540D 0.000 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A8 HGNC ENSG00000149452 30 0 0 35 4 10.2564 PLA2G16 0 genome.wustl.edu 37 11 63357702 63357702 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 63357702 63357702 G A SNP PLA2G16 ENST00000323646 human ensembl 74_37 -1 known missense c.257 p.P86L 0.995 pfam_LRAT-like_dom pfam_LRAT-like_dom - no_errors PLA2G16 HGNC ENSG00000176485 142 0 0 83 18 17.8218 FLRT1 0 genome.wustl.edu 37 11 63883777 63883777 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 63883777 63883777 C T SNP FLRT1 ENST00000246841 human ensembl 74_37 +1 known missense c.38 p.T13M 0.307 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT1 HGNC ENSG00000126500 23 0 0 21 6 22.2222 SLC22A12 0 genome.wustl.edu 37 11 64367173 64367173 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 64367173 64367173 G A SNP SLC22A12 ENST00000377574 human ensembl 74_37 +1 known missense c.1096 p.G366S 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC ENSG00000197891 80 0 0 53 19 26.3889 NRXN2 0 genome.wustl.edu 37 11 64390471 64390471 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 64390471 64390471 C A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.3927 p.Q1309H 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 31 0 0 25 7 21.875 NAALADL1 0 genome.wustl.edu 37 11 64821729 64821729 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 64821729 64821729 C A SNP NAALADL1 ENST00000358658 human ensembl 74_37 -1 known missense c.985 p.A329S 0.000 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALADL1 HGNC ENSG00000168060 64 0 0 33 12 26.6667 TIGD3 0 genome.wustl.edu 37 11 65123482 65123482 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 65123482 65123482 G A SNP TIGD3 ENST00000309880 human ensembl 74_37 +1 known missense c.203 p.R68H 1.000 superfamily_Homeodomain-like pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD3 HGNC ENSG00000173825 203 0 0 127 53 29.4444 KCNK7 0 genome.wustl.edu 37 11 65361010 65361010 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 65361010 65361010 G A SNP KCNK7 ENST00000340313 human ensembl 74_37 -1 known silent c.655 p.L219 1.000 pirsf_2pore_dom_K_chnl_TASK,pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl pirsf_2pore_dom_K_chnl_TASK,pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK - no_errors KCNK7 HGNC ENSG00000173338 83 0 0 53 32 37.6471 PCNXL3 0 genome.wustl.edu 37 11 65403961 65403961 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 65403961 65403961 C A SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.5693 p.P1898H 0.991 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 51 0 0 29 9 23.6842 RELA 0 genome.wustl.edu 37 11 65422377 65422377 + Silent SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 65422377 65422377 G T SNP RELA ENST00000406246 human ensembl 74_37 -1 known silent c.1128 p.A376 0.865 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELA HGNC ENSG00000173039 16 0 0 13 6 31.5789 DNHD1 0 genome.wustl.edu 37 11 6592478 6592478 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 6592478 6592478 G A SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.13736 p.R4579H 0.518 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 34 0 0 29 10 25.641 DCHS1 0 genome.wustl.edu 37 11 6648207 6648207 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 6648207 6648207 G A SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known silent c.6063 p.R2021 0.214 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 54 0 0 39 9 18.75 SPTBN2 0 genome.wustl.edu 37 11 66483313 66483313 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 66483313 66483313 C T SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known silent c.297 p.S99 0.004 pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 43 0 0 23 13 36.1111 CABP2 0 genome.wustl.edu 37 11 67287382 67287382 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 67287382 67287382 G A SNP CABP2 ENST00000294288 human ensembl 74_37 -1 known silent c.519 p.S173 0.361 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP2 HGNC ENSG00000167791 54 0 0 38 13 25.4902 LRP5 0 genome.wustl.edu 37 11 68181349 68181349 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 68181349 68181349 G A SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.2696 p.R899H 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 72 0 0 50 21 29.5775 MTL5 0 genome.wustl.edu 37 11 68483408 68483408 + Splice_Site SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 68483408 68483408 C A SNP MTL5 ENST00000255087 human ensembl 74_37 -1 known splice_site c.918-1 e6-1 1.000 - - - no_errors MTL5 HGNC ENSG00000132749 24 0 0 15 6 28.5714 DEAF1 0 genome.wustl.edu 37 11 688355 688355 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 688355 688355 C A SNP DEAF1 ENST00000382409 human ensembl 74_37 -1 known missense c.493 p.G165C 1.000 NULL pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom - no_errors DEAF1 HGNC ENSG00000177030 57 0 0 23 14 37.8378 NADSYN1 0 genome.wustl.edu 37 11 71183524 71183524 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 71183524 71183524 T C SNP NADSYN1 ENST00000319023 human ensembl 74_37 +1 known missense c.437 p.M146T 1.000 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC ENSG00000172890 62 0 0 35 11 23.913 MRPL48 0 genome.wustl.edu 37 11 73570971 73570971 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 73570971 73570971 A G SNP MRPL48 ENST00000310614 human ensembl 74_37 +1 known missense c.391 p.T131A 1.000 pfam_Ribosomal_S10_dom,superfamily_Ribosomal_S10_dom pfam_Ribosomal_S10_dom,superfamily_Ribosomal_S10_dom - no_errors MRPL48 HGNC ENSG00000175581 37 0 0 30 6 16.6667 C2CD3 0 genome.wustl.edu 37 11 73759343 73759343 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 73759343 73759343 G A SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.5402 p.T1801M 0.584 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 46 0 0 22 6 21.4286 C2CD3 0 genome.wustl.edu 37 11 73785543 73785543 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 73785543 73785543 T C SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.4706 p.H1569R 0.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 67 0 0 38 20 34.4828 KLHL35 0 genome.wustl.edu 37 11 75139513 75139513 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 75139513 75139513 G A SNP KLHL35 ENST00000539798 human ensembl 74_37 -1 known missense c.1040 p.A347V 0.998 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL35 HGNC ENSG00000149243 87 0 0 44 19 30.1587 CAPN5 0 genome.wustl.edu 37 11 76831954 76831954 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 76831954 76831954 C T SNP CAPN5 ENST00000278559 human ensembl 74_37 +1 known missense c.1486 p.R496W 0.998 superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN5 HGNC ENSG00000149260 190 1 0.52356 117 32 21.4765 MYO7A 0 genome.wustl.edu 37 11 76910654 76910654 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 76910654 76910654 T C SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.4643 p.L1548P 1.000 pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 27 0 0 12 6 33.3333 KCTD21 0 genome.wustl.edu 37 11 77885584 77885584 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 77885584 77885584 G A SNP KCTD21 ENST00000340067 human ensembl 74_37 -1 known missense c.17 p.T6M 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD21 HGNC ENSG00000188997 30 0 0 15 7 31.8182 TENM4 0 genome.wustl.edu 37 11 78380838 78380838 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 78380838 78380838 T C SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known silent c.6552 p.G2184 0.723 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 67 0 0 40 15 27.2727 EED 0 genome.wustl.edu 37 11 85963259 85963259 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 85963259 85963259 T C SNP EED ENST00000263360 human ensembl 74_37 +1 known missense c.337 p.F113L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EED HGNC ENSG00000074266 83 0 0 36 20 35.7143 TYR 0 genome.wustl.edu 37 11 88911805 88911805 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 88911805 88911805 T C SNP TYR ENST00000263321 human ensembl 74_37 +1 known silent c.684 p.D228 0.999 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 118 0 0 54 29 34.9398 FOLH1B 0 genome.wustl.edu 37 11 89424667 89424667 + RNA SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 89424667 89424667 C T SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors FOLH1B HGNC ENSG00000134612 49 0 0 31 13 29.5455 CKAP4 0 genome.wustl.edu 37 12 106633826 106633826 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 106633826 106633826 C T SNP CKAP4 ENST00000378026 human ensembl 74_37 -1 known missense c.785 p.S262N 1.000 NULL superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil - no_errors CKAP4 HGNC ENSG00000136026 191 0 0 86 57 39.8601 SART3 0 genome.wustl.edu 37 12 108931976 108931976 + Nonsense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 108931976 108931976 G A SNP SART3 ENST00000228284 human ensembl 74_37 -1 known nonsense c.1066 p.R356* 0.999 smart_HAT pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 67 0 0 42 27 39.1304 DAO 0 genome.wustl.edu 37 12 109278816 109278816 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 109278816 109278816 G A SNP DAO ENST00000228476 human ensembl 74_37 +1 known missense c.34 p.G12R 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DAO HGNC ENSG00000110887 121 0 0 93 25 21.1864 TRPV4 0 genome.wustl.edu 37 12 110236479 110236479 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 110236479 110236479 G A SNP TRPV4 ENST00000261740 human ensembl 74_37 -1 known silent c.1092 p.A364 0.846 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 110 0 0 76 23 23.2323 GIT2 0 genome.wustl.edu 37 12 110383069 110383069 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 110383069 110383069 C T SNP GIT2 ENST00000355312 human ensembl 74_37 -1 known missense c.1727 p.R576Q 1.000 NULL pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT2 HGNC ENSG00000139436 31 0 0 15 7 31.8182 ANAPC7 0 genome.wustl.edu 37 12 110819722 110819722 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 110819722 110819722 G A SNP ANAPC7 ENST00000455511 human ensembl 74_37 -1 known missense c.1069 p.R357W 0.993 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ANAPC7 HGNC ENSG00000196510 21 0 0 14 9 39.1304 MYL2 0 genome.wustl.edu 37 12 111352053 111352053 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 111352053 111352053 T C SNP MYL2 ENST00000228841 human ensembl 74_37 -1 known missense c.211 p.K71E 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL2 HGNC ENSG00000111245 59 0 0 41 9 18 CUX2 0 genome.wustl.edu 37 12 111733145 111733145 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 111733145 111733145 A G SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.569 p.Q190R 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 36 0 0 42 11 20.7547 SLC8B1 0 genome.wustl.edu 37 12 113745598 113745598 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 113745598 113745598 C T SNP SLC8B1 ENST00000202831 human ensembl 74_37 -1 known missense c.1309 p.A437T 1.000 pfam_NaCa_Exmemb pfam_NaCa_Exmemb - no_errors SLC8B1 HGNC ENSG00000089060 84 0 0 72 17 19.1011 KSR2 0 genome.wustl.edu 37 12 117914383 117914383 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 117914383 117914383 C T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.2468 p.R823H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 30 0 0 9 9 50 KSR2 0 genome.wustl.edu 37 12 118199074 118199074 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 118199074 118199074 G A SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.728 p.S243L 0.882 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 107 0 0 55 51 48.1132 ORAI1 0 genome.wustl.edu 37 12 122079120 122079120 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 122079120 122079120 G A SNP ORAI1 ENST00000330079 human ensembl 74_37 +1 known silent c.483 p.S161 0.000 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI1 HGNC ENSG00000182500 75 0 0 61 36 37.1134 MORN3 0 genome.wustl.edu 37 12 122092338 122092338 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 122092338 122092338 C T SNP MORN3 ENST00000355329 human ensembl 74_37 -1 known missense c.305 p.G102D 1.000 smart_MORN pfam_MORN,smart_MORN - no_errors MORN3 HGNC ENSG00000139714 20 0 0 5 9 64.2857 SBNO1 0 genome.wustl.edu 37 12 123829936 123829936 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 123829936 123829936 C T SNP SBNO1 ENST00000420886 human ensembl 74_37 -1 known missense c.419 p.R140Q 0.808 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 119 0 0 74 42 36.2069 GTF2H3 0 genome.wustl.edu 37 12 124139506 124139506 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 124139506 124139506 T C SNP GTF2H3 ENST00000543341 human ensembl 74_37 +1 known silent c.522 p.Y174 0.938 pfam_TFIIH_Tfb4/p34,tigrfam_TFIIH_Tfb4/p34 pfam_TFIIH_Tfb4/p34,tigrfam_TFIIH_Tfb4/p34 - no_errors GTF2H3 HGNC ENSG00000111358 80 0 0 67 15 18.2927 DHX37 0 genome.wustl.edu 37 12 125449495 125449495 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 125449495 125449495 G A SNP DHX37 ENST00000308736 human ensembl 74_37 -1 known missense c.1793 p.A598V 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 21 0 0 16 7 30.4348 TMEM132B 0 genome.wustl.edu 37 12 125834469 125834469 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 125834469 125834469 G A SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.524 p.R175Q 1.000 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 117 0 0 86 24 21.8182 DUSP16 0 genome.wustl.edu 37 12 12630702 12630702 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 12630702 12630702 C T SNP DUSP16 ENST00000228862 human ensembl 74_37 -1 known missense c.1063 p.V355M 0.002 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP16 HGNC ENSG00000111266 45 0 0 41 7 14.5833 GLT1D1 0 genome.wustl.edu 37 12 129442187 129442187 + Missense_Mutation SNP A A C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 129442187 129442187 A C SNP GLT1D1 ENST00000442111 human ensembl 74_37 +1 known missense c.878 p.Q293P 1.000 pfam_Glyco_trans_1 pfam_Glyco_trans_1 - no_errors GLT1D1 HGNC ENSG00000151948 62 0 0 27 17 38.6364 FZD10 0 genome.wustl.edu 37 12 130647800 130647800 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 130647800 130647800 G A SNP FZD10 ENST00000229030 human ensembl 74_37 +1 known missense c.313 p.A105T 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD10 HGNC ENSG00000111432 239 0 0 165 48 22.5352 EP400 0 genome.wustl.edu 37 12 132475230 132475230 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 132475230 132475230 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.2708 p.A903V 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 81 0 0 70 11 13.5802 CHFR 0 genome.wustl.edu 37 12 133428216 133428216 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 133428216 133428216 C T SNP CHFR ENST00000266880 human ensembl 74_37 -1 known missense c.1513 p.A505T 0.945 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING - no_errors CHFR HGNC ENSG00000072609 320 0 0 177 105 37.234 WNT5B 0 genome.wustl.edu 37 12 1755054 1755054 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 1755054 1755054 G A SNP WNT5B ENST00000310594 human ensembl 74_37 +1 known missense c.716 p.R239H 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5B HGNC ENSG00000111186 106 1 0.934579 77 29 27.3585 PLCZ1 0 genome.wustl.edu 37 12 18854570 18854570 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 18854570 18854570 C A SNP PLCZ1 ENST00000538330 human ensembl 74_37 -1 putative missense c.228 p.E76D 0.430 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_Pinositol-sp_Y,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC ENSG00000139151 27 0 0 25 6 19.3548 ABCC9 0 genome.wustl.edu 37 12 22035726 22035726 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 22035726 22035726 C T SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.1993 p.A665T 0.000 superfamily_P-loop_NTPase pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 138 0 0 53 11 17.1875 CACNA1C 0 genome.wustl.edu 37 12 2595422 2595422 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 2595422 2595422 A G SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.910 p.I304V 0.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 80 0 0 68 27 28.4211 CACNA1C 0 genome.wustl.edu 37 12 2691997 2691997 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 2691997 2691997 G A SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.2113 p.G705R 1.000 pfam_Ion_trans_dom,prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 39 0 0 18 12 40 FOXM1 0 genome.wustl.edu 37 12 2973571 2973571 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 2973571 2973571 G A SNP FOXM1 ENST00000342628 human ensembl 74_37 -1 known missense c.1181 p.S394L 0.980 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 202 0 0 145 41 22.043 DDX11 0 genome.wustl.edu 37 12 31244761 31244761 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 31244761 31244761 G A SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known missense c.1198 p.D400N 1.000 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 177 0 0 119 47 28.3133 TEAD4 0 genome.wustl.edu 37 12 3128327 3128327 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 3128327 3128327 C T SNP TEAD4 ENST00000359864 human ensembl 74_37 +1 known missense c.574 p.P192S 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD4 HGNC ENSG00000197905 103 0 0 99 17 14.6552 DENND5B 0 genome.wustl.edu 37 12 31613305 31613305 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 31613305 31613305 G A SNP DENND5B ENST00000306833 human ensembl 74_37 -1 known silent c.1020 p.R340 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 52 0 0 42 10 19.2308 KIF21A 0 genome.wustl.edu 37 12 39716468 39716468 + Splice_Site SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 39716468 39716468 A G SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known splice_site c.3671+2 e26+2 1.000 - - - no_errors KIF21A HGNC ENSG00000139116 95 0 0 76 10 11.6279 H1FNT 0 genome.wustl.edu 37 12 48723373 48723373 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 48723373 48723373 C A SNP H1FNT ENST00000335017 human ensembl 74_37 +1 known missense c.299 p.P100H 0.000 NULL NULL - no_errors H1FNT HGNC ENSG00000187166 55 0 0 23 19 45.2381 ADCY6 0 genome.wustl.edu 37 12 49176859 49176859 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 49176859 49176859 C T SNP ADCY6 ENST00000307885 human ensembl 74_37 -1 known missense c.359 p.R120H 0.120 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 126 0 0 80 59 42.446 KMT2D 0 genome.wustl.edu 37 12 49421896 49421896 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 49421896 49421896 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.14411 p.A4804V 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 58 0 0 49 36 42.3529 KMT2D 0 genome.wustl.edu 37 12 49427477 49427477 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 49427477 49427477 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.11011 p.P3671S 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 114 0 0 87 26 23.0088 DIP2B 0 genome.wustl.edu 37 12 51125312 51125312 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 51125312 51125312 G A SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.3802 p.V1268M 0.997 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 85 0 0 81 13 13.8298 KRT7 0 genome.wustl.edu 37 12 52629019 52629019 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 52629019 52629019 C T SNP KRT7 ENST00000331817 human ensembl 74_37 +1 known silent c.405 p.S135 0.999 pfam_IF pfam_IF,superfamily_Prefoldin,superfamily_Chorismate_mutase_type_II,prints_Keratin_II - no_errors KRT7 HGNC ENSG00000135480 73 0 0 28 23 45.098 KRT81 0 genome.wustl.edu 37 12 52685196 52685196 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 52685196 52685196 G A SNP KRT81 ENST00000327741 human ensembl 74_37 -1 known silent c.54 p.C18 0.996 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT81 HGNC ENSG00000205426 52 0 0 47 12 20.339 TENC1 0 genome.wustl.edu 37 12 53451887 53451887 + Splice_Site SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 53451887 53451887 G A SNP TENC1 ENST00000314276 human ensembl 74_37 +1 known splice_site c.1125+1 e14+1 1.000 - - - no_errors TENC1 HGNC ENSG00000111077 82 0 0 37 26 41.2698 SPRYD3 0 genome.wustl.edu 37 12 53468510 53468510 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 53468510 53468510 G A SNP SPRYD3 ENST00000301463 human ensembl 74_37 -1 known missense c.430 p.R144W 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors SPRYD3 HGNC ENSG00000167778 132 0 0 84 43 33.8583 SPRYD3 0 genome.wustl.edu 37 12 53470944 53470944 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 53470944 53470944 T C SNP SPRYD3 ENST00000301463 human ensembl 74_37 -1 known missense c.125 p.Y42C 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors SPRYD3 HGNC ENSG00000167778 108 0 0 81 29 26.3636 CDK2 0 genome.wustl.edu 37 12 56361558 56361558 + RNA SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 56361558 56361558 C A SNP CDK2 ENST00000556146 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CDK2 HGNC ENSG00000123374 14 0 0 7 9 56.25 GLS2 0 genome.wustl.edu 37 12 56872956 56872956 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 56872956 56872956 G A SNP GLS2 ENST00000311966 human ensembl 74_37 -1 known silent c.414 p.S138 1.000 NULL pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS2 HGNC ENSG00000135423 62 0 0 64 12 15.7895 LRP1 0 genome.wustl.edu 37 12 57554728 57554728 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 57554728 57554728 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.2032 p.R678W 0.528 pfam_LDLR_classB_rpt,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,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 152 0 0 115 23 16.6667 LRP1 0 genome.wustl.edu 37 12 57595682 57595682 + Nonsense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 57595682 57595682 G T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known nonsense c.10588 p.E3530* 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_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 162 0 0 130 50 27.7778 VWF 0 genome.wustl.edu 37 12 6128813 6128813 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 6128813 6128813 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.3771 p.L1257 0.000 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 74 0 0 68 18 20.9302 TAPBPL 0 genome.wustl.edu 37 12 6566754 6566754 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 6566754 6566754 C T SNP TAPBPL ENST00000266556 human ensembl 74_37 +1 known missense c.748 p.R250W 0.127 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors TAPBPL HGNC ENSG00000139192 70 0 0 56 13 18.8406 NCAPD2 0 genome.wustl.edu 37 12 6634802 6634802 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 6634802 6634802 G A SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known silent c.2268 p.L756 0.994 superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 51 0 0 49 6 10.9091 MLF2 0 genome.wustl.edu 37 12 6861111 6861111 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 6861111 6861111 C T SNP MLF2 ENST00000203630 human ensembl 74_37 -1 known missense c.160 p.A54T 1.000 pfam_Myeloid_leukemia_factor pfam_Myeloid_leukemia_factor - no_errors MLF2 HGNC ENSG00000089693 109 0 0 68 41 37.6147 IL22 0 genome.wustl.edu 37 12 68647066 68647066 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 68647066 68647066 G A SNP IL22 ENST00000328087 human ensembl 74_37 -1 known missense c.163 p.R55C 0.999 superfamily_4_helix_cytokine-like_core superfamily_4_helix_cytokine-like_core,prints_IL-22,prints_IL-24 - no_errors IL22 HGNC ENSG00000127318 86 0 0 65 22 25.2874 PTPRB 0 genome.wustl.edu 37 12 70946688 70946688 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 70946688 70946688 G A SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known silent c.5256 p.A1752 0.024 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 95 0 0 73 20 21.5054 SLC2A3 0 genome.wustl.edu 37 12 8075523 8075523 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 8075523 8075523 A G SNP SLC2A3 ENST00000075120 human ensembl 74_37 -1 known missense c.1166 p.V389A 1.000 pfam_Sub_transporter,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A3 HGNC ENSG00000059804 79 0 0 44 10 18.5185 MGAT4C 0 genome.wustl.edu 37 12 86373300 86373300 + Nonsense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 86373300 86373300 G A SNP MGAT4C ENST00000393205 human ensembl 74_37 -1 known nonsense c.1291 p.Q431* 1.000 NULL pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 69 0 0 33 26 44.0678 ZIC5 0 genome.wustl.edu 37 13 100617886 100617886 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 100617886 100617886 C T SNP ZIC5 ENST00000267294 human ensembl 74_37 -1 known silent c.1737 p.P579 0.052 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC5 HGNC ENSG00000139800 207 0 0 125 23 15.5405 ZIC2 0 genome.wustl.edu 37 13 100635354 100635354 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 100635354 100635354 C T SNP ZIC2 ENST00000376335 human ensembl 74_37 +1 known missense c.1036 p.R346C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC2 HGNC ENSG00000043355 130 0 0 80 28 25.9259 ITGBL1 0 genome.wustl.edu 37 13 102220101 102220101 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 102220101 102220101 G T SNP ITGBL1 ENST00000376180 human ensembl 74_37 +1 known missense c.368 p.G123V 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_EGF_extracell,smart_EG-like_dom - no_errors ITGBL1 HGNC ENSG00000198542 139 0 0 75 28 27.1845 ITGBL1 0 genome.wustl.edu 37 13 102220102 102220102 + Silent SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 102220102 102220102 G T SNP ITGBL1 ENST00000376180 human ensembl 74_37 +1 known silent c.369 p.G123 0.959 pfam_EGF_extracell,smart_EG-like_dom pfam_EGF_extracell,smart_EG-like_dom - no_errors ITGBL1 HGNC ENSG00000198542 141 0 0 76 28 26.9231 FGF14 0 genome.wustl.edu 37 13 102568809 102568809 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 102568809 102568809 G A SNP FGF14 ENST00000376143 human ensembl 74_37 -1 known missense c.187 p.R63C 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF14 HGNC ENSG00000102466 126 1 0.787402 91 30 24.7934 TEX30 0 genome.wustl.edu 37 13 103418901 103418901 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 103418901 103418901 C T SNP TEX30 ENST00000376032 human ensembl 74_37 -1 known missense c.534 p.M178I 1.000 pfam_Dienelactn_hydro pfam_Dienelactn_hydro - no_errors TEX30 HGNC ENSG00000151287 51 0 0 27 9 25 MYO16 0 genome.wustl.edu 37 13 109540729 109540729 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 109540729 109540729 G T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.1497 p.R499S 0.996 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 92 0 0 48 10 17.2414 COL4A1 0 genome.wustl.edu 37 13 110802779 110802779 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 110802779 110802779 C T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known silent c.4941 p.P1647 0.096 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 40 0 0 25 9 26.4706 COL4A2 0 genome.wustl.edu 37 13 111118411 111118411 + Splice_Site SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 111118411 111118411 T C SNP COL4A2 ENST00000360467 human ensembl 74_37 +1 known splice_site c.2038+2 e25+2 0.998 - - - no_errors COL4A2 HGNC ENSG00000134871 90 0 0 66 10 13.1579 GRK1 0 genome.wustl.edu 37 13 114322333 114322333 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 114322333 114322333 C T SNP GRK1 ENST00000335678 human ensembl 74_37 +1 known missense c.632 p.A211V 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,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK1 HGNC ENSG00000185974 29 0 0 18 8 30.7692 GAS6 0 genome.wustl.edu 37 13 114535749 114535749 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 114535749 114535749 G A SNP GAS6 ENST00000357389 human ensembl 74_37 -1 known missense c.940 p.R314W 0.023 superfamily_ConA-like_lec_gl_sf pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 124 0 0 60 23 27.7108 GAS6 0 genome.wustl.edu 37 13 114538515 114538515 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 114538515 114538515 G A SNP GAS6 ENST00000357389 human ensembl 74_37 -1 known missense c.683 p.A228V 0.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 155 1 0.641026 82 32 28.0702 CRYL1 0 genome.wustl.edu 37 13 21013765 21013765 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 21013765 21013765 C A SNP CRYL1 ENST00000298248 human ensembl 74_37 -1 known missense c.405 p.L135F 0.256 pfam_3-OHacyl-CoA_DH_NAD-bd pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors CRYL1 HGNC ENSG00000165475 69 0 0 48 15 23.8095 CENPJ 0 genome.wustl.edu 37 13 25457502 25457502 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 25457502 25457502 C T SNP CENPJ ENST00000381884 human ensembl 74_37 -1 known missense c.3830 p.G1277D 1.000 pfam_Tcp10_C_dom pfam_Tcp10_C_dom - no_errors CENPJ HGNC ENSG00000151849 78 0 0 42 11 20.7547 POLR1D 0 genome.wustl.edu 37 13 28240013 28240013 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 28240013 28240013 C T SNP POLR1D ENST00000399697 human ensembl 74_37 +1 novel nonsense c.292 p.R98* 0.721 NULL NULL - no_errors POLR1D HGNC ENSG00000186184 106 1 0.934579 73 19 20.6522 FRY 0 genome.wustl.edu 37 13 32808878 32808878 + Nonsense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 32808878 32808878 G T SNP FRY ENST00000380250 human ensembl 74_37 +1 known nonsense c.5695 p.E1899* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 62 0 0 32 10 23.8095 FRY 0 genome.wustl.edu 37 13 32868598 32868598 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 32868598 32868598 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.8674 p.A2892T 0.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 98 0 0 54 17 23.9437 NBEA 0 genome.wustl.edu 37 13 35644128 35644128 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 35644128 35644128 T C SNP NBEA ENST00000310336 human ensembl 74_37 +1 known silent c.1323 p.S441 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 33 0 0 16 9 36 DCLK1 0 genome.wustl.edu 37 13 36445472 36445472 + Nonsense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 36445472 36445472 G A SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known nonsense c.829 p.R277* 1.000 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 174 0 0 97 37 27.6119 POSTN 0 genome.wustl.edu 37 13 38166277 38166277 + Silent SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 38166277 38166277 A G SNP POSTN ENST00000379747 human ensembl 74_37 -1 known silent c.243 p.P81 0.996 superfamily_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 41 0 0 19 6 24 AKAP11 0 genome.wustl.edu 37 13 42877077 42877077 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 42877077 42877077 C T SNP AKAP11 ENST00000025301 human ensembl 74_37 +1 known missense c.4195 p.P1399S 0.019 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 55 0 0 40 10 20 ENSG00000269965 0 genome.wustl.edu 37 13 51936200 51936200 + RNA SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 51936200 51936200 G A SNP ENSG00000269965 ENST00000602881 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-24B19.4 Clone_based_vega_gene ENSG00000269965 17 0 0 13 6 31.5789 TBC1D4 0 genome.wustl.edu 37 13 75936260 75936260 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 75936260 75936260 C T SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known missense c.982 p.E328K 0.990 smart_PTB/PI_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 127 0 0 49 31 38.75 DIO3OS 0 genome.wustl.edu 37 14 102026596 102026596 + RNA SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 102026596 102026596 G A SNP DIO3OS ENST00000553729 human ensembl 74_37 -1 known rna NULL NULL 0.934 - - - no_errors DIO3OS HGNC ENSG00000258498 27 0 0 12 4 25 AMN 0 genome.wustl.edu 37 14 103390133 103390133 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 103390133 103390133 C T SNP AMN ENST00000299155 human ensembl 74_37 +1 known silent c.129 p.C43 0.897 NULL NULL - no_errors AMN HGNC ENSG00000166126 106 0 0 84 28 25 CEP170B 0 genome.wustl.edu 37 14 105353025 105353025 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 105353025 105353025 G T SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known missense c.2452 p.G818W 0.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 72 0 0 38 19 33.3333 JAG2 0 genome.wustl.edu 37 14 105609917 105609917 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 105609917 105609917 G A SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known missense c.3143 p.A1048V 1.000 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 33 0 0 18 12 40 JAG2 0 genome.wustl.edu 37 14 105612201 105612201 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 105612201 105612201 C T SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known missense c.2819 p.R940Q 1.000 smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 12 0 0 4 2 33.3333 RNASE10 0 genome.wustl.edu 37 14 20979078 20979078 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 20979078 20979078 G A SNP RNASE10 ENST00000328444 human ensembl 74_37 +1 known missense c.448 p.A150T 1.000 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE10 HGNC ENSG00000182545 73 0 0 41 16 28.0702 RNASE6 0 genome.wustl.edu 37 14 21249933 21249933 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 21249933 21249933 T C SNP RNASE6 ENST00000304677 human ensembl 74_37 +1 known silent c.75 p.P25 0.047 superfamily_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE6 HGNC ENSG00000169413 75 0 0 45 13 22.4138 OR5AU1 0 genome.wustl.edu 37 14 21623789 21623789 + Silent SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 21623789 21623789 G T SNP OR5AU1 ENST00000304418 human ensembl 74_37 -1 known silent c.396 p.T132 0.776 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AU1 HGNC ENSG00000169327 122 0 0 70 22 23.913 MMP14 0 genome.wustl.edu 37 14 23312937 23312937 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 23312937 23312937 C T SNP MMP14 ENST00000311852 human ensembl 74_37 +1 known missense c.869 p.P290L 1.000 pirsf_Pept_M10A_Metazoans pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP14 HGNC ENSG00000157227 265 0 0 160 51 24.1706 MYH7 0 genome.wustl.edu 37 14 23883076 23883076 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 23883076 23883076 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known silent c.5682 p.S1894 1.000 pfam_Myosin_tail 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 161 0 0 102 39 27.6596 MYH7 0 genome.wustl.edu 37 14 23888767 23888767 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 23888767 23888767 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.3778 p.R1260W 0.046 pfam_Myosin_tail 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 188 0 0 89 50 35.9712 DHRS4 0 genome.wustl.edu 37 14 24424347 24424347 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 24424347 24424347 G T SNP DHRS4 ENST00000313250 human ensembl 74_37 +1 known missense c.232 p.G78W 0.983 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect - no_errors DHRS4 HGNC ENSG00000157326 151 0 0 84 24 22.2222 RABGGTA 0 genome.wustl.edu 37 14 24738901 24738901 + Splice_Site SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 24738901 24738901 C T SNP RABGGTA ENST00000216840 human ensembl 74_37 -1 known splice_site c.428-1 e5-1 1.000 - - - no_errors RABGGTA HGNC ENSG00000100949 46 0 0 19 12 38.7097 CMA1 0 genome.wustl.edu 37 14 24976674 24976674 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 24976674 24976674 G A SNP CMA1 ENST00000250378 human ensembl 74_37 -1 known missense c.97 p.R33C 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CMA1 HGNC ENSG00000092009 210 0 0 105 40 27.5862 GZMH 0 genome.wustl.edu 37 14 25077608 25077608 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 25077608 25077608 G A SNP GZMH ENST00000216338 human ensembl 74_37 -1 known silent c.66 p.I22 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMH HGNC ENSG00000100450 174 1 0.571429 102 28 21.5385 PRKD1 0 genome.wustl.edu 37 14 30068264 30068264 + Missense_Mutation SNP A A C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 30068264 30068264 A C SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.2135 p.V712G 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,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 101 0 0 55 21 27.6316 G2E3 0 genome.wustl.edu 37 14 31067763 31067763 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 31067763 31067763 G T SNP G2E3 ENST00000206595 human ensembl 74_37 +1 known missense c.710 p.R237I 1.000 superfamily_Znf_FYVE_PHD pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 88 0 0 35 14 28.5714 AKAP6 0 genome.wustl.edu 37 14 33293352 33293352 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 33293352 33293352 G A SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known silent c.6333 p.S2111 0.957 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 99 0 0 50 19 27.5362 ENSG00000257520 0 genome.wustl.edu 37 14 36942999 36942999 + RNA SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 36942999 36942999 C T SNP ENSG00000257520 ENST00000521945 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors RP11-896J10.3 Clone_based_vega_gene ENSG00000257520 11 0 0 6 4 40 ENSG00000259083 0 genome.wustl.edu 37 14 39644471 39644471 + RNA SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 39644471 39644471 C T SNP ENSG00000259083 ENST00000556537 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors RP11-407N17.4 Clone_based_vega_gene ENSG00000259083 42 0 0 28 11 28.2051 LRFN5 0 genome.wustl.edu 37 14 42356779 42356779 + Silent SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 42356779 42356779 A G SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known silent c.951 p.A317 0.986 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 107 0 0 74 29 28.1553 NID2 0 genome.wustl.edu 37 14 52507367 52507367 + Splice_Site SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 52507367 52507367 A G SNP NID2 ENST00000216286 human ensembl 74_37 -1 known splice_site c.2026+2 e8+2 1.000 - - - no_errors NID2 HGNC ENSG00000087303 99 0 0 68 19 21.8391 ATG14 0 genome.wustl.edu 37 14 55836376 55836376 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 55836376 55836376 C T SNP ATG14 ENST00000247178 human ensembl 74_37 -1 known silent c.1440 p.S480 0.001 NULL pfam_UV_resistance/autophagy_Atg14 - no_errors ATG14 HGNC ENSG00000126775 161 0 0 79 35 30.7018 SIX4 0 genome.wustl.edu 37 14 61190676 61190676 + Silent SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 61190676 61190676 C A SNP SIX4 ENST00000216513 human ensembl 74_37 -1 known silent c.117 p.A39 0.997 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX4 HGNC ENSG00000100625 100 0 0 45 10 18.1818 SYT16 0 genome.wustl.edu 37 14 62551094 62551094 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 62551094 62551094 C T SNP SYT16 ENST00000430451 human ensembl 74_37 +1 novel nonsense c.1615 p.R539* 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT16 HGNC ENSG00000139973 58 0 0 19 6 24 SYNE2 0 genome.wustl.edu 37 14 64430701 64430701 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 64430701 64430701 T C SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.973 p.Y325H 0.992 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 38 0 0 8 13 61.9048 PAPLN 0 genome.wustl.edu 37 14 73720653 73720653 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 73720653 73720653 C T SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known missense c.1286 p.P429L 0.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 47 0 0 29 8 21.6216 FAM161B 0 genome.wustl.edu 37 14 74411229 74411229 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 74411229 74411229 A G SNP FAM161B ENST00000286544 human ensembl 74_37 -1 known missense c.923 p.I308T 0.024 pfam_UPF0564 pfam_UPF0564 - no_errors FAM161B HGNC ENSG00000156050 86 0 0 50 19 27.5362 YLPM1 0 genome.wustl.edu 37 14 75264709 75264709 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 75264709 75264709 C T SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known silent c.2709 p.S903 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 51 0 0 25 11 30.5556 ADCK1 0 genome.wustl.edu 37 14 78397931 78397931 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 78397931 78397931 G A SNP ADCK1 ENST00000238561 human ensembl 74_37 +1 known missense c.1277 p.R426H 1.000 NULL pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 70 0 0 40 18 31.0345 FLRT2 0 genome.wustl.edu 37 14 86088481 86088481 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 86088481 86088481 G A SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.623 p.R208H 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 136 0 0 89 26 22.6087 FLRT2 0 genome.wustl.edu 37 14 86089274 86089274 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 86089274 86089274 C T SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known silent c.1416 p.S472 0.849 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 139 0 0 85 27 24.1071 KCNK10 0 genome.wustl.edu 37 14 88652360 88652360 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 88652360 88652360 C T SNP KCNK10 ENST00000312350 human ensembl 74_37 -1 known missense c.1151 p.R384Q 1.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 105 0 0 67 30 30.9278 KCNK10 0 genome.wustl.edu 37 14 88658653 88658653 + Missense_Mutation SNP C C G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 88658653 88658653 C G SNP KCNK10 ENST00000312350 human ensembl 74_37 -1 known missense c.783 p.K261N 0.988 pfam_2pore_dom_K_chnl_dom pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 206 1 0.483092 126 43 25.4438 BTBD7 0 genome.wustl.edu 37 14 93760390 93760390 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 93760390 93760390 T C SNP BTBD7 ENST00000334746 human ensembl 74_37 -1 known missense c.976 p.T326A 0.999 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 58 0 0 42 13 23.6364 ALDH1A3 0 genome.wustl.edu 37 15 101433160 101433160 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 101433160 101433160 C T SNP ALDH1A3 ENST00000558033 human ensembl 74_37 +1 known missense c.356 p.S119L 0.353 NULL pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 91 0 0 63 13 17.1053 LRRK1 0 genome.wustl.edu 37 15 101602777 101602777 + Splice_Site SNP A A C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 101602777 101602777 A C SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known splice_site c.4798-2 e30-2 1.000 - - - no_errors LRRK1 HGNC ENSG00000154237 125 0 0 65 27 29.3478 NPAP1 0 genome.wustl.edu 37 15 24921241 24921241 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 24921241 24921241 G T SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.227 p.R76L 0.001 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 72 0 0 42 7 14.2857 SNORD116-6 0 genome.wustl.edu 37 15 25310190 25310190 + RNA SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 25310190 25310190 T C SNP SNORD116-6 ENST00000384711 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors SNORD116-6 HGNC ENSG00000207442 157 0 0 100 7 6.54206 SNORD116-6 0 genome.wustl.edu 37 15 25310192 25310192 + RNA SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 25310192 25310192 C A SNP SNORD116-6 ENST00000384711 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors SNORD116-6 HGNC ENSG00000207442 162 0 0 101 7 6.48148 SNHG14 0 genome.wustl.edu 37 15 25438298 25438298 + RNA SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 25438298 25438298 G T SNP SNHG14 ENST00000414175 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNHG14 HGNC ENSG00000224078 27 0 0 24 8 25 SNHG14 0 genome.wustl.edu 37 15 25488671 25488671 + RNA SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 25488671 25488671 C A SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors SNHG14 HGNC ENSG00000224078 107 0 0 65 11 14.4737 OCA2 0 genome.wustl.edu 37 15 28231740 28231740 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 28231740 28231740 G T SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.1232 p.A411D 1.000 pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 119 0 0 69 18 20.6897 HERC2 0 genome.wustl.edu 37 15 28366498 28366498 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 28366498 28366498 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.13266 p.R4422 0.079 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 86 0 0 61 16 20.7792 HERC2 0 genome.wustl.edu 37 15 28377925 28377925 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 28377925 28377925 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.12282 p.V4094 0.998 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 236 0 0 137 36 20.8092 HERC2 0 genome.wustl.edu 37 15 28419605 28419605 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 28419605 28419605 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.9993 p.T3331 0.014 superfamily_RCC1/BLIP-II pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 57 0 0 33 11 25 HERC2 0 genome.wustl.edu 37 15 28501349 28501349 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 28501349 28501349 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.2632 p.V878M 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 58 0 0 25 10 28.5714 HERC2P9 0 genome.wustl.edu 37 15 28901142 28901142 + RNA SNP T T A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 28901142 28901142 T A SNP HERC2P9 ENST00000528584 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors HERC2P9 HGNC ENSG00000206149 28 0 0 13 6 31.5789 TJP1 0 genome.wustl.edu 37 15 29997900 29997900 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 29997900 29997900 C T SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.4900 p.A1634T 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 85 0 0 54 18 25 TRPM1 0 genome.wustl.edu 37 15 31355443 31355443 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 31355443 31355443 G A SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known silent c.894 p.N298 0.862 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 147 0 0 106 29 21.4815 BAHD1 0 genome.wustl.edu 37 15 40754413 40754413 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 40754413 40754413 C T SNP BAHD1 ENST00000416165 human ensembl 74_37 +1 known missense c.1735 p.R579C 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC ENSG00000140320 185 0 0 124 43 25.7485 CHAC1 0 genome.wustl.edu 37 15 41247666 41247666 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 41247666 41247666 C T SNP CHAC1 ENST00000446533 human ensembl 74_37 +1 known silent c.489 p.Y163 0.753 pfam_ChaC pfam_ChaC - no_errors CHAC1 HGNC ENSG00000128965 332 0 0 204 56 21.5385 CHAC1 0 genome.wustl.edu 37 15 41247845 41247845 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 41247845 41247845 G A SNP CHAC1 ENST00000446533 human ensembl 74_37 +1 known missense c.668 p.R223H 1.000 pfam_ChaC pfam_ChaC - no_errors CHAC1 HGNC ENSG00000128965 141 0 0 78 34 30.3571 INO80 0 genome.wustl.edu 37 15 41276449 41276449 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 41276449 41276449 G A SNP INO80 ENST00000361937 human ensembl 74_37 -1 known silent c.4023 p.D1341 0.953 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 44 0 0 23 4 14.8148 TYRO3 0 genome.wustl.edu 37 15 41864674 41864674 + Missense_Mutation SNP T T G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 41864674 41864674 T G SNP TYRO3 ENST00000263798 human ensembl 74_37 +1 known missense c.1787 p.L596R 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TYRO3 HGNC ENSG00000092445 188 0 0 99 34 25.5639 TGM5 0 genome.wustl.edu 37 15 43531380 43531380 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 43531380 43531380 T C SNP TGM5 ENST00000220420 human ensembl 74_37 -1 known silent c.1086 p.T362 0.026 smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 96 0 0 54 18 25 TP53BP1 0 genome.wustl.edu 37 15 43705365 43705365 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 43705365 43705365 G A SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known missense c.5257 p.R1753C 1.000 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 69 0 0 52 8 13.3333 FRMD5 0 genome.wustl.edu 37 15 44198148 44198148 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 44198148 44198148 C T SNP FRMD5 ENST00000417257 human ensembl 74_37 -1 known silent c.429 p.A143 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FRMD5 HGNC ENSG00000171877 55 0 0 40 19 32.2034 SPG11 0 genome.wustl.edu 37 15 44951449 44951449 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 44951449 44951449 T C SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known silent c.495 p.L165 0.022 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 60 0 0 41 12 22.6415 USP50 0 genome.wustl.edu 37 15 50836810 50836810 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 50836810 50836810 G A SNP USP50 ENST00000532404 human ensembl 74_37 -1 known silent c.222 p.T74 0.001 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP50 HGNC ENSG00000170236 32 0 0 24 5 17.2414 CYP19A1 0 genome.wustl.edu 37 15 51514698 51514698 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 51514698 51514698 C T SNP CYP19A1 ENST00000260433 human ensembl 74_37 -1 known missense c.476 p.R159H 0.632 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP19A1 HGNC ENSG00000137869 53 0 0 26 16 38.0952 GLDN 0 genome.wustl.edu 37 15 51689791 51689791 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 51689791 51689791 C T SNP GLDN ENST00000335449 human ensembl 74_37 +1 known silent c.813 p.C271 0.973 NULL pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC ENSG00000186417 88 0 0 41 17 29.3103 ENSG00000259577 0 genome.wustl.edu 37 15 52497392 52497392 + RNA SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 52497392 52497392 G A SNP ENSG00000259577 ENST00000559779 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-430B1.2 Clone_based_vega_gene ENSG00000259577 60 0 0 34 11 24.4444 MYO5A 0 genome.wustl.edu 37 15 52668596 52668596 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 52668596 52668596 G A SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.2368 p.R790W 1.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 66 0 0 25 14 35.8974 RFX7 0 genome.wustl.edu 37 15 56387073 56387073 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 56387073 56387073 T C SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known silent c.2853 p.T951 0.802 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 12 0 0 13 5 27.7778 ANXA2 0 genome.wustl.edu 37 15 60641357 60641357 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 60641357 60641357 C T SNP ANXA2 ENST00000332680 human ensembl 74_37 -1 known missense c.931 p.V311I 1.000 pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinII,prints_AnnexinV - no_errors ANXA2 HGNC ENSG00000182718 59 0 0 43 9 17.3077 NARG2 0 genome.wustl.edu 37 15 60741880 60741880 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 60741880 60741880 G A SNP NARG2 ENST00000261520 human ensembl 74_37 -1 known missense c.1286 p.T429I 0.001 NULL pfam_NARG2_C - no_errors NARG2 HGNC ENSG00000128915 164 0 0 94 34 26.5625 IGDCC4 0 genome.wustl.edu 37 15 65702608 65702608 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 65702608 65702608 G A SNP IGDCC4 ENST00000352385 human ensembl 74_37 -1 novel silent c.471 p.N157 0.011 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC4 HGNC ENSG00000103742 82 0 0 58 23 28.3951 SLC24A1 0 genome.wustl.edu 37 15 65916520 65916520 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 65916520 65916520 C T SNP SLC24A1 ENST00000261892 human ensembl 74_37 +1 known silent c.102 p.I34 0.000 tigrfam_K-dep_Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A1 HGNC ENSG00000074621 110 0 0 66 24 26.6667 MEGF11 0 genome.wustl.edu 37 15 66222091 66222091 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 66222091 66222091 G A SNP MEGF11 ENST00000409699 human ensembl 74_37 -1 known silent c.1539 p.G513 0.999 smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC ENSG00000157890 10 0 0 6 4 40 DIS3L 0 genome.wustl.edu 37 15 66607510 66607510 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 66607510 66607510 C T SNP DIS3L ENST00000319212 human ensembl 74_37 +1 known silent c.951 p.D317 0.003 NULL NULL - no_errors DIS3L HGNC ENSG00000166938 124 0 0 54 17 23.9437 DIS3L 0 genome.wustl.edu 37 15 66618407 66618407 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 66618407 66618407 G T SNP DIS3L ENST00000319212 human ensembl 74_37 +1 known missense c.1906 p.A636S 1.000 NULL NULL - no_errors DIS3L HGNC ENSG00000166938 156 0 0 96 32 25 ITGA11 0 genome.wustl.edu 37 15 68599992 68599992 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 68599992 68599992 G A SNP ITGA11 ENST00000315757 human ensembl 74_37 -1 known missense c.3217 p.R1073W 0.939 NULL 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 ITGA11 HGNC ENSG00000137809 30 0 0 24 7 22.5806 CORO2B 0 genome.wustl.edu 37 15 69011069 69011069 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 69011069 69011069 G A SNP CORO2B ENST00000566799 human ensembl 74_37 +1 known missense c.1000 p.A334T 1.000 pfam_DUF1900 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2B HGNC ENSG00000103647 71 0 0 38 7 15.5556 KIF23 0 genome.wustl.edu 37 15 69728003 69728003 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 69728003 69728003 C T SNP KIF23 ENST00000260363 human ensembl 74_37 +1 known nonsense c.1165 p.R389* 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 77 0 0 32 9 21.9512 THSD4 0 genome.wustl.edu 37 15 71952908 71952908 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 71952908 71952908 G A SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known missense c.1192 p.V398M 0.624 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 319 0 0 150 66 30.5556 PML 0 genome.wustl.edu 37 15 74326969 74326969 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 74326969 74326969 G T SNP PML ENST00000435786 human ensembl 74_37 +1 known missense c.1808 p.R603L 0.000 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 52 0 0 18 11 37.931 LMAN1L 0 genome.wustl.edu 37 15 75108770 75108770 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 75108770 75108770 C T SNP LMAN1L ENST00000309664 human ensembl 74_37 +1 known silent c.333 p.A111 0.283 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN1L HGNC ENSG00000140506 136 0 0 85 36 29.7521 HYKK 0 genome.wustl.edu 37 15 78825552 78825552 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 78825552 78825552 G A SNP HYKK ENST00000388988 human ensembl 74_37 +1 known missense c.662 p.C221Y 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors HYKK HGNC ENSG00000188266 39 0 0 17 5 22.7273 KIAA1199 0 genome.wustl.edu 37 15 81218066 81218066 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 81218066 81218066 G A SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.2390 p.R797H 1.000 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 53 0 0 28 15 34.8837 LOC283693 0 genome.wustl.edu 37 15 83395752 83395752 + RNA SNP A A C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 83395752 83395752 A C SNP LOC283693 ENST00000560958 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-752G15.9 Clone_based_vega_gene ENSG00000259315 19 0 0 15 4 21.0526 ZNF710 0 genome.wustl.edu 37 15 90622982 90622982 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 90622982 90622982 C T SNP ZNF710 ENST00000268154 human ensembl 74_37 +1 known missense c.1916 p.A639V 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 138 0 0 96 25 20.6612 FES 0 genome.wustl.edu 37 15 91433191 91433191 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 91433191 91433191 C T SNP FES ENST00000328850 human ensembl 74_37 +1 known missense c.1048 p.R350W 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FES HGNC ENSG00000182511 80 0 0 62 24 27.907 SV2B 0 genome.wustl.edu 37 15 91769717 91769717 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 91769717 91769717 G A SNP SV2B ENST00000330276 human ensembl 74_37 +1 known missense c.224 p.R75Q 0.139 tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2B HGNC ENSG00000185518 72 0 0 44 16 26.6667 ATF7IP2 0 genome.wustl.edu 37 16 10551245 10551245 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 10551245 10551245 C T SNP ATF7IP2 ENST00000356427 human ensembl 74_37 +1 known missense c.1211 p.A404V 0.003 NULL superfamily_Fibronectin_type3 - no_errors ATF7IP2 HGNC ENSG00000166669 117 0 0 50 11 18.0328 TEKT5 0 genome.wustl.edu 37 16 10721647 10721647 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 10721647 10721647 G A SNP TEKT5 ENST00000283025 human ensembl 74_37 -1 known silent c.1251 p.N417 0.044 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT5 HGNC ENSG00000153060 55 0 0 35 11 23.913 SNX29 0 genome.wustl.edu 37 16 12618643 12618643 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 12618643 12618643 G A SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known missense c.1108 p.E370K 1.000 smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 158 1 0.628931 94 33 25.9843 RRN3 0 genome.wustl.edu 37 16 15178534 15178534 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 15178534 15178534 G A SNP RRN3 ENST00000198767 human ensembl 74_37 -1 known silent c.561 p.H187 1.000 pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold - no_errors RRN3 HGNC ENSG00000085721 54 0 0 32 6 15.7895 IFT140 0 genome.wustl.edu 37 16 1576692 1576692 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 1576692 1576692 C T SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known silent c.2505 p.A835 0.050 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 20 0 0 20 11 35.4839 ACSM1 0 genome.wustl.edu 37 16 20673143 20673143 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 20673143 20673143 C T SNP ACSM1 ENST00000307493 human ensembl 74_37 -1 known missense c.965 p.R322Q 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM1 HGNC ENSG00000166743 69 0 0 31 7 18.4211 PKD1 0 genome.wustl.edu 37 16 2156666 2156666 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 2156666 2156666 G A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.7222 p.R2408C 0.801 pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 28 0 0 18 10 35.7143 OTOA 0 genome.wustl.edu 37 16 21763714 21763714 + Silent SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 21763714 21763714 C A SNP OTOA ENST00000286149 human ensembl 74_37 +1 known silent c.2985 p.T995 0.559 NULL NULL - no_errors OTOA HGNC ENSG00000155719 25 0 0 7 4 36.3636 TRAF7 0 genome.wustl.edu 37 16 2221340 2221340 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 2221340 2221340 G A SNP TRAF7 ENST00000326181 human ensembl 74_37 +1 known missense c.424 p.V142M 0.998 smart_Znf_RING,pfscan_Znf_RING pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 14 0 0 9 2 18.1818 EEF2K 0 genome.wustl.edu 37 16 22274454 22274454 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 22274454 22274454 C T SNP EEF2K ENST00000263026 human ensembl 74_37 +1 known silent c.1323 p.S441 0.662 pirsf_Elongation_factor_2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 55 0 0 26 7 21.2121 CASKIN1 0 genome.wustl.edu 37 16 2233682 2233682 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 2233682 2233682 G T SNP CASKIN1 ENST00000343516 human ensembl 74_37 -1 known missense c.1594 p.L532I 1.000 pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 73 0 0 48 18 27.2727 ECI1 0 genome.wustl.edu 37 16 2293329 2293329 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 2293329 2293329 C T SNP ECI1 ENST00000301729 human ensembl 74_37 -1 known missense c.553 p.A185T 0.995 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam - no_errors ECI1 HGNC ENSG00000167969 172 0 0 120 41 25.4658 GGA2 0 genome.wustl.edu 37 16 23499987 23499987 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 23499987 23499987 T C SNP GGA2 ENST00000309859 human ensembl 74_37 -1 known silent c.519 p.L173 0.878 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ENTH_VHS,superfamily_Coatomer/clathrin_app_Ig-like,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA2 HGNC ENSG00000103365 145 1 0.684932 90 13 12.6214 ABCA3 0 genome.wustl.edu 37 16 2374467 2374467 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 2374467 2374467 C T SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.385 p.V129M 0.890 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 43 0 0 12 11 47.8261 APOBR 0 genome.wustl.edu 37 16 28506688 28506688 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 28506688 28506688 A G SNP APOBR ENST00000564831 human ensembl 74_37 +1 known missense c.326 p.H109R 0.000 NULL NULL - no_errors APOBR HGNC ENSG00000184730 9 0 0 4 5 55.5556 IL27 0 genome.wustl.edu 37 16 28515226 28515226 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 28515226 28515226 G A SNP IL27 ENST00000356897 human ensembl 74_37 -1 known silent c.177 p.S59 0.250 superfamily_4_helix_cytokine-like_core superfamily_4_helix_cytokine-like_core - no_errors IL27 HGNC ENSG00000197272 102 0 0 44 18 29.0323 PRSS21 0 genome.wustl.edu 37 16 2868703 2868703 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 2868703 2868703 G T SNP PRSS21 ENST00000005995 human ensembl 74_37 +1 known missense c.283 p.G95W 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS21 HGNC ENSG00000007038 115 0 0 61 22 26.506 EIF3C 0 genome.wustl.edu 37 16 28734621 28734621 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 28734621 28734621 C T SNP EIF3C ENST00000331666 human ensembl 74_37 +1 known missense c.913 p.R305W 0.996 pfam_EIF3C_N_dom pfam_EIF3C_N_dom,pfam_PCI_dom,smart_PCI_dom - no_errors EIF3C HGNC ENSG00000184110 714 1 0.13986 503 72 12.5217 ATP2A1 0 genome.wustl.edu 37 16 28911961 28911961 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 28911961 28911961 G A SNP ATP2A1 ENST00000357084 human ensembl 74_37 +1 known silent c.1824 p.T608 0.003 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_IIA pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A1 HGNC ENSG00000196296 117 0 0 70 14 16.6667 MAZ 0 genome.wustl.edu 37 16 29821441 29821441 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 29821441 29821441 G T SNP MAZ ENST00000563402 human ensembl 74_37 +1 novel missense c.292 p.G98C 0.234 NULL NULL - no_errors MAZ HGNC ENSG00000103495 71 0 0 43 15 25.8621 SEPT1 0 genome.wustl.edu 37 16 30392536 30392536 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 30392536 30392536 C A SNP SEPT1 ENST00000321367 human ensembl 74_37 -1 known missense c.611 p.R204L 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT1 HGNC ENSG00000180096 121 0 0 76 23 23.2323 SRCAP 0 genome.wustl.edu 37 16 30723028 30723028 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 30723028 30723028 G A SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known silent c.1455 p.A485 0.242 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 175 0 0 86 34 28.3333 FBXL19 0 genome.wustl.edu 37 16 30958185 30958185 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 30958185 30958185 G A SNP FBXL19 ENST00000380310 human ensembl 74_37 +1 known missense c.1822 p.A608T 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Znf_CXXC,pfam_F-box_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors FBXL19 HGNC ENSG00000099364 29 0 0 29 10 25.641 MMP25 0 genome.wustl.edu 37 16 3097522 3097522 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 3097522 3097522 C T SNP MMP25 ENST00000336577 human ensembl 74_37 +1 known missense c.206 p.A69V 0.924 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 MMP25 HGNC ENSG00000008516 146 0 0 96 34 26.1538 PRSS53 0 genome.wustl.edu 37 16 31096300 31096300 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 31096300 31096300 C T SNP PRSS53 ENST00000280606 human ensembl 74_37 -1 known silent c.1080 p.P360 0.004 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS53 HGNC ENSG00000151006 17 0 0 9 4 30.7692 ITGAM 0 genome.wustl.edu 37 16 31332935 31332935 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 31332935 31332935 T C SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known silent c.1992 p.D664 0.146 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 128 0 0 74 23 23.7113 ZNF174 0 genome.wustl.edu 37 16 3458560 3458560 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 3458560 3458560 C A SNP ZNF174 ENST00000268655 human ensembl 74_37 +1 known missense c.865 p.L289I 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF174 HGNC ENSG00000103343 165 0 0 71 17 19.3182 ZNF597 0 genome.wustl.edu 37 16 3486537 3486537 + Nonsense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 3486537 3486537 G A SNP ZNF597 ENST00000301744 human ensembl 74_37 -1 known nonsense c.1162 p.Q388* 0.763 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF597 HGNC ENSG00000167981 28 0 0 25 5 16.6667 DNASE1 0 genome.wustl.edu 37 16 3707055 3707055 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 3707055 3707055 C T SNP DNASE1 ENST00000246949 human ensembl 74_37 +1 known silent c.492 p.A164 0.002 pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I - no_errors DNASE1 HGNC ENSG00000213918 73 0 0 40 8 16.6667 CREBBP 0 genome.wustl.edu 37 16 3808953 3808953 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 3808953 3808953 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.3271 p.R1091C 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 87 0 0 55 13 19.1176 VASN 0 genome.wustl.edu 37 16 4431239 4431239 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 4431239 4431239 C T SNP VASN ENST00000304735 human ensembl 74_37 +1 known missense c.361 p.R121C 0.995 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors VASN HGNC ENSG00000168140 40 0 0 27 6 18.1818 PHKB 0 genome.wustl.edu 37 16 47730354 47730354 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 47730354 47730354 G A SNP PHKB ENST00000299167 human ensembl 74_37 +1 known silent c.2958 p.T986 0.781 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 76 0 0 35 7 16.6667 SEPT12 0 genome.wustl.edu 37 16 4837628 4837628 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 4837628 4837628 A G SNP SEPT12 ENST00000268231 human ensembl 74_37 -1 known missense c.19 p.S7P 0.003 NULL pfam_Cell_div_GTP-bd,pfam_AIG1,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT12 HGNC ENSG00000140623 33 0 0 21 5 19.2308 N4BP1 0 genome.wustl.edu 37 16 48595821 48595821 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 48595821 48595821 A G SNP N4BP1 ENST00000262384 human ensembl 74_37 -1 known missense c.733 p.S245P 1.000 NULL pfam_RNase_Zc3h12 - no_errors N4BP1 HGNC ENSG00000102921 44 0 0 31 6 16.2162 ZNF423 0 genome.wustl.edu 37 16 49671871 49671871 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 49671871 49671871 G A SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.1192 p.R398W 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 92 0 0 46 15 24.5902 C16orf89 0 genome.wustl.edu 37 16 5106074 5106074 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 5106074 5106074 C T SNP C16orf89 ENST00000350219 human ensembl 74_37 -1 known missense c.857 p.R286Q 0.867 NULL NULL - no_errors C16orf89 HGNC ENSG00000153446 76 0 0 59 19 24.359 SALL1 0 genome.wustl.edu 37 16 51185147 51185147 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 51185147 51185147 C T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known silent c.6 p.S2 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 26 0 0 9 7 43.75 IRX6 0 genome.wustl.edu 37 16 55362834 55362834 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 55362834 55362834 G A SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known missense c.944 p.R315H 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 112 0 0 68 34 33.3333 CCDC135 0 genome.wustl.edu 37 16 57756637 57756637 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 57756637 57756637 G A SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known missense c.1292 p.R431H 1.000 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 121 1 0.819672 67 24 26.3736 CNGB1 0 genome.wustl.edu 37 16 57931400 57931400 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 57931400 57931400 G A SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known missense c.3143 p.A1048V 0.999 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 56 0 0 39 20 33.8983 PRSS54 0 genome.wustl.edu 37 16 58319950 58319950 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 58319950 58319950 G A SNP PRSS54 ENST00000219301 human ensembl 74_37 -1 known missense c.413 p.A138V 0.006 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 - no_errors PRSS54 HGNC ENSG00000103023 195 0 0 102 42 29.1667 ZDHHC1 0 genome.wustl.edu 37 16 67433331 67433331 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 67433331 67433331 A G SNP ZDHHC1 ENST00000348579 human ensembl 74_37 -1 known missense c.457 p.C153R 1.000 pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC1 HGNC ENSG00000159714 88 0 0 63 17 21.25 CENPT 0 genome.wustl.edu 37 16 67866249 67866249 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 67866249 67866249 T C SNP CENPT ENST00000565713 human ensembl 74_37 -1 known missense c.206 p.D69G 0.830 NULL NULL - no_errors CENPT HGNC ENSG00000102901 47 0 0 32 17 34.6939 FUK 0 genome.wustl.edu 37 16 70500827 70500827 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 70500827 70500827 G A SNP FUK ENST00000378912 human ensembl 74_37 +1 known missense c.550 p.D184N 1.000 pfam_Fucokinase pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 78 0 0 51 22 30.137 HYDIN 0 genome.wustl.edu 37 16 70977741 70977741 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 70977741 70977741 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.6643 p.V2215M 0.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 56 0 0 44 10 18.5185 MARVELD3 0 genome.wustl.edu 37 16 71668550 71668550 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 71668550 71668550 C T SNP MARVELD3 ENST00000268485 human ensembl 74_37 +1 known silent c.1050 p.S350 0.019 NULL NULL - no_errors MARVELD3 HGNC ENSG00000140832 81 0 0 38 17 30.9091 AP1G1 0 genome.wustl.edu 37 16 71779114 71779114 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 71779114 71779114 C T SNP AP1G1 ENST00000433195 human ensembl 74_37 -1 known silent c.2001 p.A667 1.000 pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G1 HGNC ENSG00000166747 64 0 0 38 11 22.449 HPR 0 genome.wustl.edu 37 16 72110691 72110691 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 72110691 72110691 C T SNP HPR ENST00000228226 human ensembl 74_37 +1 known missense c.869 p.T290M 0.000 pirsf_Haptoglobin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Haptoglobin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors HPR HGNC ENSG00000261701 126 0 0 66 20 23.2558 PMFBP1 0 genome.wustl.edu 37 16 72174448 72174448 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 72174448 72174448 G A SNP PMFBP1 ENST00000537465 human ensembl 74_37 -1 known missense c.670 p.R224W 0.618 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 146 0 0 79 22 21.7822 ENSG00000259972 0 genome.wustl.edu 37 16 74366508 74366508 + RNA SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 74366508 74366508 G A SNP ENSG00000259972 ENST00000565313 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors AC009120.6 Clone_based_vega_gene ENSG00000259972 45 0 0 24 3 11.1111 FA2H 0 genome.wustl.edu 37 16 74750315 74750315 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 74750315 74750315 C T SNP FA2H ENST00000219368 human ensembl 74_37 -1 known silent c.969 p.P323 0.031 pfam_Fatty_acid_hydroxylase,pirsf_Ino-phos-ceramide-B_Hydrxlase pfam_Fatty_acid_hydroxylase,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Ino-phos-ceramide-B_Hydrxlase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd - no_errors FA2H HGNC ENSG00000103089 56 0 0 40 13 24.5283 CHST5 0 genome.wustl.edu 37 16 75563591 75563591 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 75563591 75563591 C T SNP CHST5 ENST00000541075 human ensembl 74_37 -1 known missense c.710 p.R237H 0.912 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 131 0 0 79 30 27.5229 CHST5 0 genome.wustl.edu 37 16 75563611 75563611 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 75563611 75563611 G A SNP CHST5 ENST00000541075 human ensembl 74_37 -1 known silent c.690 p.R230 0.875 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 142 1 0.699301 87 26 23.0088 BCMO1 0 genome.wustl.edu 37 16 81320986 81320986 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 81320986 81320986 G A SNP BCMO1 ENST00000258168 human ensembl 74_37 +1 known silent c.1389 p.A463 0.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCMO1 HGNC ENSG00000135697 88 0 0 46 21 31.3433 PLCG2 0 genome.wustl.edu 37 16 81946265 81946265 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 81946265 81946265 C T SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known silent c.1998 p.D666 0.951 pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,pirsf_PLC-gamma,pfscan_SH2,prints_SH2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 42 0 0 25 7 21.875 MSLNL 0 genome.wustl.edu 37 16 830214 830214 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 830214 830214 C T SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known missense c.787 p.D263N 0.001 NULL pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 35 0 0 25 15 37.5 HSDL1 0 genome.wustl.edu 37 16 84163848 84163848 + Nonsense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 84163848 84163848 G A SNP HSDL1 ENST00000219439 human ensembl 74_37 -1 known nonsense c.409 p.R137* 0.585 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSDL1 HGNC ENSG00000103160 167 0 0 103 42 28.9655 CHTF18 0 genome.wustl.edu 37 16 842344 842344 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 842344 842344 C T SNP CHTF18 ENST00000317063 human ensembl 74_37 +1 known silent c.1908 p.P636 0.880 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 13 0 0 10 3 23.0769 KCNG4 0 genome.wustl.edu 37 16 84270841 84270841 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 84270841 84270841 C T SNP KCNG4 ENST00000308251 human ensembl 74_37 -1 known missense c.251 p.R84H 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG4 HGNC ENSG00000168418 121 0 0 78 21 21.2121 WFDC1 0 genome.wustl.edu 37 16 84353123 84353123 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 84353123 84353123 G A SNP WFDC1 ENST00000219454 human ensembl 74_37 +1 known missense c.508 p.V170M 0.042 NULL pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core - no_errors WFDC1 HGNC ENSG00000103175 80 0 0 59 16 21.3333 GSE1 0 genome.wustl.edu 37 16 85688440 85688440 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 85688440 85688440 G A SNP GSE1 ENST00000253458 human ensembl 74_37 +1 known missense c.640 p.V214M 0.998 NULL pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 51 0 0 42 5 10.6383 FBXO31 0 genome.wustl.edu 37 16 87393948 87393948 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 87393948 87393948 C T SNP FBXO31 ENST00000311635 human ensembl 74_37 -1 known missense c.365 p.R122Q 1.000 superfamily_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO31 HGNC ENSG00000103264 53 0 0 36 16 30.7692 CDT1 0 genome.wustl.edu 37 16 88871863 88871863 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 88871863 88871863 C T SNP CDT1 ENST00000301019 human ensembl 74_37 +1 known silent c.504 p.P168 0.015 NULL pfam_CDT1_Gemini-bd-like - no_errors CDT1 HGNC ENSG00000167513 92 0 0 73 16 17.9775 DPEP1 0 genome.wustl.edu 37 16 89704614 89704614 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 89704614 89704614 G A SNP DPEP1 ENST00000261615 human ensembl 74_37 +1 known missense c.1220 p.C407Y 0.001 NULL pfam_Peptidase_M19 - no_errors DPEP1 HGNC ENSG00000015413 69 0 0 34 19 35.8491 FANCA 0 genome.wustl.edu 37 16 89849416 89849416 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 89849416 89849416 T C SNP FANCA ENST00000389301 human ensembl 74_37 -1 known missense c.1565 p.K522R 1.000 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 44 0 0 31 9 22.5 TCF25 0 genome.wustl.edu 37 16 89949906 89949906 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 89949906 89949906 G T SNP TCF25 ENST00000263346 human ensembl 74_37 +1 known missense c.340 p.V114L 0.000 NULL pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 27 0 0 12 3 20 FAM157C 0 genome.wustl.edu 37 16 90168700 90168700 + RNA SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 90168700 90168700 A G SNP FAM157C ENST00000563357 human ensembl 74_37 +1 known rna NULL NULL 0.021 - - - no_errors FAM157C HGNC ENSG00000260528 11 0 0 6 3 33.3333 MYH4 0 genome.wustl.edu 37 17 10362628 10362628 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 10362628 10362628 G A SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known silent c.1527 p.I509 0.997 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 205 1 0.485437 119 33 21.7105 MYH2 0 genome.wustl.edu 37 17 10440997 10440997 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 10440997 10440997 G A SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known silent c.1572 p.I524 0.519 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,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 224 0 0 124 49 28.3237 DNAH9 0 genome.wustl.edu 37 17 11656223 11656223 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 11656223 11656223 C T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known silent c.6684 p.G2228 0.050 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 DNAH9 HGNC ENSG00000007174 89 0 0 39 17 30.3571 HS3ST3A1 0 genome.wustl.edu 37 17 13400018 13400018 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 13400018 13400018 G A SNP HS3ST3A1 ENST00000284110 human ensembl 74_37 -1 known silent c.717 p.I239 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3A1 HGNC ENSG00000153976 203 0 0 168 23 12.0419 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 85 0 0 56 4 6.66667 NCOR1 0 genome.wustl.edu 37 17 16024412 16024412 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 16024412 16024412 C T SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known silent c.1806 p.A602 0.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 144 0 0 89 31 25.8333 TRPV2 0 genome.wustl.edu 37 17 16326906 16326906 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 16326906 16326906 A G SNP TRPV2 ENST00000338560 human ensembl 74_37 +1 known missense c.749 p.H250R 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 80 0 0 53 17 24.2857 SREBF1 0 genome.wustl.edu 37 17 17723585 17723585 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 17723585 17723585 G A SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known silent c.432 p.P144 0.149 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 128 0 0 67 31 31.6327 MYO15A 0 genome.wustl.edu 37 17 18022705 18022705 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 18022705 18022705 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known silent c.591 p.Y197 0.295 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 79 0 0 35 18 33.9623 FBXW10 0 genome.wustl.edu 37 17 18670082 18670082 + Silent SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 18670082 18670082 C A SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known silent c.1698 p.I566 0.992 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 56 0 0 21 6 22.2222 SLC5A10 0 genome.wustl.edu 37 17 18872443 18872443 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 18872443 18872443 G T SNP SLC5A10 ENST00000395647 human ensembl 74_37 +1 known missense c.532 p.G178C 0.148 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A10 HGNC ENSG00000154025 89 0 0 54 17 23.9437 UBBP4 0 genome.wustl.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 21730847 21730847 G T SNP UBBP4 ENST00000578713 human ensembl 74_37 +1 putative missense c.149 p.R50L 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 65 0 0 51 5 8.92857 SRR 0 genome.wustl.edu 37 17 2226993 2226993 + Silent SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 2226993 2226993 A G SNP SRR ENST00000344595 human ensembl 74_37 +1 known silent c.849 p.E283 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 74 0 0 34 18 34.6154 CLUH 0 genome.wustl.edu 37 17 2601302 2601302 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 2601302 2601302 C T SNP CLUH ENST00000435359 human ensembl 74_37 -1 known missense c.1735 p.V579M 0.999 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 19 0 0 17 10 37.037 SUPT6H 0 genome.wustl.edu 37 17 27008369 27008369 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 27008369 27008369 C T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.1445 p.A482V 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 98 0 0 52 19 26.7606 NEK8 0 genome.wustl.edu 37 17 27068452 27068452 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 27068452 27068452 G A SNP NEK8 ENST00000268766 human ensembl 74_37 +1 known missense c.1913 p.G638D 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 46 0 0 28 9 24.3243 ANKRD13B 0 genome.wustl.edu 37 17 27937743 27937743 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 27937743 27937743 G A SNP ANKRD13B ENST00000394859 human ensembl 74_37 +1 known missense c.863 p.R288Q 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13B HGNC ENSG00000198720 69 0 0 32 18 36 PSMD11 0 genome.wustl.edu 37 17 30796128 30796128 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 30796128 30796128 G A SNP PSMD11 ENST00000261712 human ensembl 74_37 +1 known missense c.560 p.R187Q 1.000 smart_PAM pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors PSMD11 HGNC ENSG00000108671 55 0 0 37 14 27.451 ENSG00000224113 0 genome.wustl.edu 37 17 33332763 33332763 + RNA SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 33332763 33332763 C T SNP ENSG00000224113 ENST00000415412 human ensembl 74_37 +1 known rna NULL NULL 0.899 - - - no_errors RP5-837J1.2 Clone_based_vega_gene ENSG00000224113 43 0 0 20 12 37.5 AP2B1 0 genome.wustl.edu 37 17 33977595 33977595 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 33977595 33977595 G A SNP AP2B1 ENST00000312678 human ensembl 74_37 +1 known missense c.1583 p.R528H 0.838 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC ENSG00000006125 146 0 0 67 26 27.957 TRPV1 0 genome.wustl.edu 37 17 3494642 3494642 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 3494642 3494642 A G SNP TRPV1 ENST00000399756 human ensembl 74_37 -1 known missense c.290 p.L97P 0.015 tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV1 HGNC ENSG00000196689 84 0 0 36 12 25 ITGAE 0 genome.wustl.edu 37 17 3620083 3620083 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 3620083 3620083 C T SNP ITGAE ENST00000263087 human ensembl 74_37 -1 known missense c.3343 p.V1115I 0.990 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 110 0 0 64 16 20 CWC25 0 genome.wustl.edu 37 17 36962649 36962649 + Splice_Site SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 36962649 36962649 C T SNP CWC25 ENST00000225428 human ensembl 74_37 -1 known splice_site c.903-1 e8-1 1.000 - - - no_errors CWC25 HGNC ENSG00000108296 22 0 0 8 7 46.6667 KRTAP4-4 0 genome.wustl.edu 37 17 39316818 39316818 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 39316818 39316818 C T SNP KRTAP4-4 ENST00000390661 human ensembl 74_37 -1 known silent c.126 p.V42 0.087 NULL NULL - no_errors KRTAP4-4 HGNC ENSG00000171396 207 0 0 112 51 31.2883 ACLY 0 genome.wustl.edu 37 17 40065856 40065856 + Missense_Mutation SNP T T G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 40065856 40065856 T G SNP ACLY ENST00000352035 human ensembl 74_37 -1 known missense c.443 p.K148T 1.000 pfam_ATP-grasp_succ-CoA_synth-type,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 98 0 0 58 11 15.942 MLX 0 genome.wustl.edu 37 17 40720502 40720502 + Missense_Mutation SNP A A T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 40720502 40720502 A T SNP MLX ENST00000246912 human ensembl 74_37 +1 known missense c.256 p.S86C 0.968 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLX HGNC ENSG00000108788 277 0 0 170 68 28.5714 MPP3 0 genome.wustl.edu 37 17 41898340 41898340 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 41898340 41898340 C T SNP MPP3 ENST00000398389 human ensembl 74_37 -1 known silent c.771 p.R257 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP3 HGNC ENSG00000161647 51 0 0 29 7 19.4444 SLC4A1 0 genome.wustl.edu 37 17 42335477 42335477 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 42335477 42335477 G A SNP SLC4A1 ENST00000262418 human ensembl 74_37 -1 known missense c.1159 p.R387W 0.003 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC ENSG00000004939 173 1 0.574713 91 34 27.2 GPATCH8 0 genome.wustl.edu 37 17 42476612 42476612 + Nonsense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 42476612 42476612 G A SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known nonsense c.2833 p.R945* 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 100 1 0.990099 77 27 25.9615 GPATCH8 0 genome.wustl.edu 37 17 42477897 42477897 + Silent SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 42477897 42477897 G T SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known silent c.1548 p.T516 0.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 87 0 0 47 19 28.7879 NMT1 0 genome.wustl.edu 37 17 43181224 43181224 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 43181224 43181224 G A SNP NMT1 ENST00000258960 human ensembl 74_37 +1 known missense c.1312 p.A438T 1.000 pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT1 HGNC ENSG00000136448 312 0 0 186 61 24.6964 CDC27 0 genome.wustl.edu 37 17 45234397 45234397 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 45234397 45234397 G A SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known missense c.724 p.P242S 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 64 0 0 39 6 13.3333 OSBPL7 0 genome.wustl.edu 37 17 45894054 45894054 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 45894054 45894054 C T SNP OSBPL7 ENST00000007414 human ensembl 74_37 -1 known missense c.803 p.R268H 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL7 HGNC ENSG00000006025 86 0 0 34 9 20.9302 ZMYND15 0 genome.wustl.edu 37 17 4645308 4645308 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 4645308 4645308 G A SNP ZMYND15 ENST00000433935 human ensembl 74_37 +1 known missense c.926 p.R309H 0.995 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND15 HGNC ENSG00000141497 177 0 0 97 27 21.7742 CHAD 0 genome.wustl.edu 37 17 48543170 48543170 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 48543170 48543170 C T SNP CHAD ENST00000258969 human ensembl 74_37 -1 known missense c.836 p.R279H 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CHAD HGNC ENSG00000136457 222 1 0.44843 154 39 20.2073 CHAD 0 genome.wustl.edu 37 17 48545679 48545679 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 48545679 48545679 C T SNP CHAD ENST00000258969 human ensembl 74_37 -1 known missense c.496 p.A166T 0.991 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CHAD HGNC ENSG00000136457 128 0 0 82 30 26.7857 CAMTA2 0 genome.wustl.edu 37 17 4885437 4885437 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 4885437 4885437 C T SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known missense c.427 p.V143I 1.000 pfam_CG-1_dom pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 180 0 0 98 32 24.6154 WFIKKN2 0 genome.wustl.edu 37 17 48917804 48917804 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 48917804 48917804 G A SNP WFIKKN2 ENST00000311378 human ensembl 74_37 +1 known silent c.1155 p.A385 0.003 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 117 0 0 73 25 25.5102 RPAIN 0 genome.wustl.edu 37 17 5331587 5331587 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 5331587 5331587 T C SNP RPAIN ENST00000405578 human ensembl 74_37 +1 known missense c.686 p.F229S 0.083 NULL NULL - no_errors RPAIN HGNC ENSG00000129197 36 0 0 14 9 39.1304 ENSG00000262112 0 genome.wustl.edu 37 17 54969032 54969032 + RNA SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 54969032 54969032 G T SNP ENSG00000262112 ENST00000574826 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-670E13.5 Clone_based_vega_gene ENSG00000262112 40 0 0 26 14 35 TEX14 0 genome.wustl.edu 37 17 56676886 56676886 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 56676886 56676886 G A SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known missense c.1838 p.A613V 0.007 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors TEX14 HGNC ENSG00000121101 97 0 0 62 18 22.5 PPM1E 0 genome.wustl.edu 37 17 57049544 57049544 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 57049544 57049544 C T SNP PPM1E ENST00000308249 human ensembl 74_37 +1 known silent c.1024 p.L342 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1E HGNC ENSG00000175175 90 0 0 53 18 25.3521 HEATR6 0 genome.wustl.edu 37 17 58134441 58134441 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 58134441 58134441 C T SNP HEATR6 ENST00000184956 human ensembl 74_37 -1 known missense c.2047 p.E683K 0.998 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 127 0 0 70 18 20.4545 HEATR6 0 genome.wustl.edu 37 17 58150607 58150607 + Missense_Mutation SNP A A C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 58150607 58150607 A C SNP HEATR6 ENST00000184956 human ensembl 74_37 -1 known missense c.502 p.L168V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 82 0 0 41 16 28.0702 MRC2 0 genome.wustl.edu 37 17 60743868 60743868 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 60743868 60743868 C T SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known silent c.747 p.Y249 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 59 0 0 40 10 20 MAP3K3 0 genome.wustl.edu 37 17 61770954 61770954 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 61770954 61770954 G A SNP MAP3K3 ENST00000361357 human ensembl 74_37 +1 known silent c.1791 p.P597 0.255 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K3 HGNC ENSG00000198909 174 0 0 117 30 20.4082 STRADA 0 genome.wustl.edu 37 17 61804044 61804044 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 61804044 61804044 C T SNP STRADA ENST00000336174 human ensembl 74_37 -1 known silent c.48 p.S16 1.000 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 STRADA HGNC ENSG00000266173 73 0 0 46 30 39.4737 PSMC5 0 genome.wustl.edu 37 17 61907507 61907507 + Silent SNP T T A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 61907507 61907507 T A SNP PSMC5 ENST00000310144 human ensembl 74_37 +1 known silent c.279 p.G93 0.997 tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC5 HGNC ENSG00000087191 65 0 0 45 17 27.4194 GH2 0 genome.wustl.edu 37 17 61958243 61958243 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 61958243 61958243 G A SNP GH2 ENST00000332800 human ensembl 74_37 -1 known silent c.345 p.P115 0.848 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH2 HGNC ENSG00000136487 126 1 0.787402 86 34 28.3333 GNA13 0 genome.wustl.edu 37 17 63052529 63052529 + Missense_Mutation SNP C C G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 63052529 63052529 C G SNP GNA13 ENST00000439174 human ensembl 74_37 -1 known missense c.183 p.K61N 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12 - no_errors GNA13 HGNC ENSG00000120063 215 0 0 130 36 21.6867 CACNG1 0 genome.wustl.edu 37 17 65052301 65052301 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 65052301 65052301 G A SNP CACNG1 ENST00000226021 human ensembl 74_37 +1 known missense c.583 p.G195S 0.011 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g1su,prints_VDCC_gsu - no_errors CACNG1 HGNC ENSG00000108878 112 0 0 60 24 28.5714 HELZ 0 genome.wustl.edu 37 17 65074496 65074496 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 65074496 65074496 G A SNP HELZ ENST00000358691 human ensembl 74_37 -1 known missense c.5701 p.R1901W 1.000 NULL pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 170 0 0 84 27 24.3243 RNMTL1 0 genome.wustl.edu 37 17 691291 691291 + Missense_Mutation SNP A A C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 691291 691291 A C SNP RNMTL1 ENST00000304478 human ensembl 74_37 +1 known missense c.646 p.N216H 1.000 pfam_SpoU_MeTrfase pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd - no_errors RNMTL1 HGNC ENSG00000171861 191 0 0 119 41 25.625 ALOX12 0 genome.wustl.edu 37 17 6913317 6913317 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 6913317 6913317 C T SNP ALOX12 ENST00000251535 human ensembl 74_37 +1 known missense c.1684 p.R562W 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX12 HGNC ENSG00000108839 100 0 0 56 16 22.2222 C17orf49 0 genome.wustl.edu 37 17 6920605 6920605 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 6920605 6920605 A G SNP C17orf49 ENST00000546495 human ensembl 74_37 +1 known missense c.544 p.M182V 0.999 NULL superfamily_Homeodomain-like - no_errors C17orf49 HGNC ENSG00000258315 145 0 0 76 24 24 SLC39A11 0 genome.wustl.edu 37 17 71084796 71084796 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 71084796 71084796 C T SNP SLC39A11 ENST00000542342 human ensembl 74_37 -1 known silent c.108 p.Q36 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A11 HGNC ENSG00000133195 26 0 0 21 9 30 SDK2 0 genome.wustl.edu 37 17 71382019 71382019 + Silent SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 71382019 71382019 G T SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known silent c.4536 p.P1512 0.815 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 19 0 0 20 2 9.09091 SDK2 0 genome.wustl.edu 37 17 71391336 71391336 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 71391336 71391336 C T SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.3550 p.G1184R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 25 0 0 12 5 29.4118 SDK2 0 genome.wustl.edu 37 17 71394314 71394314 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 71394314 71394314 G A SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.3214 p.R1072C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 81 0 0 52 19 26.7606 EIF5A 0 genome.wustl.edu 37 17 7214736 7214736 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 7214736 7214736 G A SNP EIF5A ENST00000336452 human ensembl 74_37 +1 known missense c.428 p.R143H 1.000 pfam_Transl_elong_IF5A_C,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,pfam_KOW,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5A HGNC ENSG00000132507 134 0 0 84 27 24.3243 ACAP1 0 genome.wustl.edu 37 17 7250404 7250404 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 7250404 7250404 G A SNP ACAP1 ENST00000158762 human ensembl 74_37 +1 known missense c.1186 p.A396T 0.007 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP1 HGNC ENSG00000072818 66 0 0 33 9 21.4286 SLC35G6 0 genome.wustl.edu 37 17 7386191 7386191 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 7386191 7386191 G A SNP SLC35G6 ENST00000412468 human ensembl 74_37 +1 known silent c.888 p.L296 1.000 pfam_DMT pfam_DMT - no_errors SLC35G6 HGNC ENSG00000259224 306 0 0 194 50 20.4918 MRPL38 0 genome.wustl.edu 37 17 73895602 73895602 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 73895602 73895602 T C SNP MRPL38 ENST00000309352 human ensembl 74_37 -1 known silent c.864 p.S288 0.000 superfamily_PtdEtn-bd_prot_PEBP pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP - no_errors MRPL38 HGNC ENSG00000204316 37 0 0 20 6 23.0769 EVPL 0 genome.wustl.edu 37 17 74018100 74018100 + Missense_Mutation SNP A A C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 74018100 74018100 A C SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.655 p.S219A 0.998 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 16 0 0 8 4 33.3333 QRICH2 0 genome.wustl.edu 37 17 74277016 74277016 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 74277016 74277016 G A SNP QRICH2 ENST00000262765 human ensembl 74_37 -1 known missense c.3784 p.R1262C 0.726 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 82 0 0 39 23 37.0968 UBE2O 0 genome.wustl.edu 37 17 74395734 74395734 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 74395734 74395734 G A SNP UBE2O ENST00000319380 human ensembl 74_37 -1 known missense c.1424 p.S475L 0.976 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 107 0 0 57 29 33.7209 FXR2 0 genome.wustl.edu 37 17 7495831 7495831 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 7495831 7495831 G A SNP FXR2 ENST00000250113 human ensembl 74_37 -1 known missense c.1816 p.R606C 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR2 HGNC ENSG00000129245 306 0 0 216 66 23.4043 TP53 0 genome.wustl.edu 37 17 7579473 7579473 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 7579473 7579473 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.214 p.P72S 0.010 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 279 0 0 195 75 27.7778 AFMID 0 genome.wustl.edu 37 17 76202066 76202066 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 76202066 76202066 C T SNP AFMID ENST00000327898 human ensembl 74_37 +1 known missense c.835 p.L279F 0.000 NULL pfam_AB_hydrolase_3 - no_errors AFMID HGNC ENSG00000183077 67 0 0 30 14 31.8182 C1QTNF1 0 genome.wustl.edu 37 17 77043779 77043779 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 77043779 77043779 G A SNP C1QTNF1 ENST00000354124 human ensembl 74_37 +1 known missense c.485 p.R162Q 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF1 HGNC ENSG00000173918 130 0 0 78 33 29.7297 TMEM88 0 genome.wustl.edu 37 17 7758474 7758474 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 7758474 7758474 G A SNP TMEM88 ENST00000301599 human ensembl 74_37 +1 known missense c.82 p.A28T 1.000 NULL NULL - no_errors TMEM88 HGNC ENSG00000167874 31 0 0 18 3 14.2857 ENPP7 0 genome.wustl.edu 37 17 77709291 77709291 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 77709291 77709291 C T SNP ENPP7 ENST00000328313 human ensembl 74_37 +1 known silent c.849 p.N283 0.042 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core - no_errors ENPP7 HGNC ENSG00000182156 121 1 0.819672 74 14 15.9091 CBX2 0 genome.wustl.edu 37 17 77755617 77755617 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 77755617 77755617 G T SNP CBX2 ENST00000269399 human ensembl 74_37 +1 known missense c.305 p.G102V 0.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX2 HGNC ENSG00000173894 119 0 0 58 18 23.6842 CBX4 0 genome.wustl.edu 37 17 77807930 77807930 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 77807930 77807930 G A SNP CBX4 ENST00000269397 human ensembl 74_37 -1 known missense c.1511 p.A504V 0.039 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow - no_errors CBX4 HGNC ENSG00000141582 125 0 0 64 22 25.5814 CHD3 0 genome.wustl.edu 37 17 7814252 7814252 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 7814252 7814252 G A SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.5842 p.A1948T 1.000 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 221 0 0 140 49 25.9259 RNF213 0 genome.wustl.edu 37 17 78272299 78272299 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 78272299 78272299 C T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.2191 p.R731W 0.654 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 69 0 0 37 11 22.9167 RPTOR 0 genome.wustl.edu 37 17 78933961 78933961 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 78933961 78933961 C T SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known silent c.3561 p.D1187 0.841 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 69 0 0 57 19 25 MFSD6L 0 genome.wustl.edu 37 17 8701011 8701011 + Silent SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 8701011 8701011 C A SNP MFSD6L ENST00000329805 human ensembl 74_37 -1 known silent c.1428 p.G476 0.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6L HGNC ENSG00000185156 99 0 0 55 21 27.6316 ABR 0 genome.wustl.edu 37 17 961263 961263 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 961263 961263 G A SNP ABR ENST00000302538 human ensembl 74_37 -1 known missense c.1328 p.S443L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 49 0 0 23 11 32.3529 CXADRP3 0 genome.wustl.edu 37 18 14479228 14479228 + RNA SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 14479228 14479228 G A SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 0.468 - - - no_errors CXADRP3 HGNC ENSG00000265766 40 0 0 8 4 33.3333 POTEC 0 genome.wustl.edu 37 18 14524922 14524922 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 14524922 14524922 C A SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.1187 p.S396I 0.043 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 POTEC HGNC ENSG00000183206 45 0 0 25 11 30.5556 SNRPD1 0 genome.wustl.edu 37 18 19203788 19203788 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 19203788 19203788 G A SNP SNRPD1 ENST00000300413 human ensembl 74_37 +1 known silent c.171 p.T57 0.979 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD1 HGNC ENSG00000167088 68 0 0 61 13 17.5676 OSBPL1A 0 genome.wustl.edu 37 18 21759789 21759789 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 21759789 21759789 G A SNP OSBPL1A ENST00000319481 human ensembl 74_37 -1 known missense c.1823 p.A608V 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 50 0 0 38 15 28.3019 HRH4 0 genome.wustl.edu 37 18 22057515 22057515 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 22057515 22057515 G T SNP HRH4 ENST00000256906 human ensembl 74_37 +1 known missense c.1162 p.V388L 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt,prints_GPCR_Rhodpsn - no_errors HRH4 HGNC ENSG00000134489 48 0 0 28 4 12.5 DSC1 0 genome.wustl.edu 37 18 28710616 28710616 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 28710616 28710616 G A SNP DSC1 ENST00000257198 human ensembl 74_37 -1 known missense c.2546 p.S849L 0.427 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_pro_dom,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin/Desmocollin,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSC1 HGNC ENSG00000134765 119 0 0 76 27 26.2136 ZNF271 0 genome.wustl.edu 37 18 32886947 32886947 + RNA SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 32886947 32886947 T C SNP ZNF271 ENST00000399070 human ensembl 74_37 +1 known rna NULL NULL 0.096 - - - no_errors ZNF271 HGNC ENSG00000257267 54 0 0 35 12 25.5319 ZBTB7C 0 genome.wustl.edu 37 18 45555955 45555955 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 45555955 45555955 G A SNP ZBTB7C ENST00000332053 human ensembl 74_37 -1 known silent c.1536 p.G512 0.982 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7C HGNC ENSG00000184828 15 0 0 8 5 38.4615 MAPK4 0 genome.wustl.edu 37 18 48256038 48256038 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 48256038 48256038 G A SNP MAPK4 ENST00000400384 human ensembl 74_37 +1 known silent c.1578 p.P526 0.000 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,prints_MAPK_ERK3/4 - no_errors MAPK4 HGNC ENSG00000141639 13 0 0 2 3 60 EPB41L3 0 genome.wustl.edu 37 18 5397388 5397388 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 5397388 5397388 G A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.2510 p.T837M 0.017 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 99 0 0 58 10 14.7059 WDR7 0 genome.wustl.edu 37 18 54591218 54591218 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 54591218 54591218 C T SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known nonsense c.3592 p.R1198* 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 84 0 0 42 14 25 ATP8B1 0 genome.wustl.edu 37 18 55315862 55315862 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 55315862 55315862 C T SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known missense c.3614 p.R1205Q 0.918 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B1 HGNC ENSG00000081923 26 0 0 20 7 25.9259 NEDD4L 0 genome.wustl.edu 37 18 55996250 55996250 + Missense_Mutation SNP A A T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 55996250 55996250 A T SNP NEDD4L ENST00000400345 human ensembl 74_37 +1 known missense c.704 p.N235I 0.868 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom,prints_C2_dom - no_errors NEDD4L HGNC ENSG00000049759 77 0 0 46 20 30.303 ALPK2 0 genome.wustl.edu 37 18 56171214 56171214 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 56171214 56171214 G A SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known missense c.6196 p.H2066Y 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 158 0 0 111 45 28.8462 CDH20 0 genome.wustl.edu 37 18 59221536 59221536 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 59221536 59221536 G A SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.2014 p.E672K 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 215 0 0 153 58 27.4882 ENOSF1 0 genome.wustl.edu 37 18 674307 674307 + Nonstop_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 674307 674307 A G SNP ENOSF1 ENST00000340116 human ensembl 74_37 -1 known nonstop c.1351 p.*451Q 0.957 NULL pfam_Mandelate_racemase_C,pfam_Mandelate_racemase_N,smart_Mandelate_racemase_C - no_errors ENOSF1 HGNC ENSG00000132199 295 0 0 180 56 23.7288 DOK6 0 genome.wustl.edu 37 18 67508532 67508532 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 67508532 67508532 C T SNP DOK6 ENST00000382713 human ensembl 74_37 +1 known silent c.909 p.Y303 0.001 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK6 HGNC ENSG00000206052 172 0 0 121 39 24.375 CYB5A 0 genome.wustl.edu 37 18 71959089 71959089 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 71959089 71959089 C T SNP CYB5A ENST00000340533 human ensembl 74_37 -1 known missense c.22 p.A8T 0.000 superfamily_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd - no_errors CYB5A HGNC ENSG00000166347 265 0 0 146 68 31.7757 TSHZ1 0 genome.wustl.edu 37 18 72997590 72997590 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 72997590 72997590 G A SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known silent c.228 p.S76 0.994 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 50 0 0 30 14 31.8182 SALL3 0 genome.wustl.edu 37 18 76753554 76753554 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 76753554 76753554 C T SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known silent c.1563 p.T521 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 22 0 0 20 5 20 NFATC1 0 genome.wustl.edu 37 18 77193582 77193582 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 77193582 77193582 G A SNP NFATC1 ENST00000590313 human ensembl 74_37 +1 known missense c.92 p.R31Q 0.304 NULL NULL - no_errors NFATC1 HGNC ENSG00000131196 239 0 0 165 45 21.4286 SOGA2 0 genome.wustl.edu 37 18 8784560 8784560 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 8784560 8784560 C A SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.1450 p.L484M 0.986 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 214 0 0 133 54 28.877 COL5A3 0 genome.wustl.edu 37 19 10097273 10097273 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 10097273 10097273 C T SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.2200 p.G734S 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 173 0 0 99 30 23.2558 COL5A3 0 genome.wustl.edu 37 19 10100194 10100194 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 10100194 10100194 G A SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.1997 p.P666L 0.758 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 44 0 0 21 10 32.2581 KRI1 0 genome.wustl.edu 37 19 10668280 10668280 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 10668280 10668280 C T SNP KRI1 ENST00000312962 human ensembl 74_37 -1 known missense c.1583 p.R528H 1.000 pfam_KRR1-interact_protein_1 pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 112 0 0 65 15 18.75 HMHA1 0 genome.wustl.edu 37 19 1073980 1073980 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 1073980 1073980 G T SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known missense c.757 p.G253C 0.924 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 16 0 0 16 3 15.7895 CARM1 0 genome.wustl.edu 37 19 11024578 11024578 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 11024578 11024578 C T SNP CARM1 ENST00000327064 human ensembl 74_37 +1 known missense c.695 p.T232M 0.908 pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11 pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11 - no_errors CARM1 HGNC ENSG00000142453 79 0 0 33 13 28.2609 SMARCA4 0 genome.wustl.edu 37 19 11135020 11135020 + Missense_Mutation SNP T T G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 11135020 11135020 T G SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.2987 p.I996S 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 67 0 0 43 10 18.8679 LDLR 0 genome.wustl.edu 37 19 11241983 11241983 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 11241983 11241983 C T SNP LDLR ENST00000557933 human ensembl 74_37 +1 novel missense c.2636 p.T879M 0.001 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_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 LDLR HGNC ENSG00000130164 199 0 0 109 44 28.7582 DOCK6 0 genome.wustl.edu 37 19 11356356 11356356 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 11356356 11356356 C T SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known silent c.906 p.S302 0.844 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 42 0 0 15 8 34.7826 ZNF700 0 genome.wustl.edu 37 19 12060510 12060510 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 12060510 12060510 T C SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known silent c.1671 p.T557 0.166 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF700 HGNC ENSG00000196757 106 0 0 49 16 24.6154 ZNF844 0 genome.wustl.edu 37 19 12187275 12187275 + Missense_Mutation SNP G G C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 12187275 12187275 G C SNP ZNF844 ENST00000439326 human ensembl 74_37 +1 known missense c.1340 p.R447P 0.047 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF844 HGNC ENSG00000223547 81 0 0 66 4 5.71429 ZNF442 0 genome.wustl.edu 37 19 12461306 12461306 + Nonsense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 12461306 12461306 G A SNP ZNF442 ENST00000242804 human ensembl 74_37 -1 known nonsense c.1093 p.Q365* 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF442 HGNC ENSG00000198342 250 0 0 153 50 24.6305 C19orf24 0 genome.wustl.edu 37 19 1279017 1279017 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 1279017 1279017 C T SNP C19orf24 ENST00000469144 human ensembl 74_37 +1 putative nonsense c.208 p.R70* 0.000 NULL NULL - no_errors C19orf24 HGNC ENSG00000228300 128 0 0 80 22 21.5686 HOOK2 0 genome.wustl.edu 37 19 12883473 12883473 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 12883473 12883473 G A SNP HOOK2 ENST00000397668 human ensembl 74_37 -1 known missense c.410 p.T137M 0.859 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 279 0 0 154 55 26.3158 CALR 0 genome.wustl.edu 37 19 13051174 13051174 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 13051174 13051174 C T SNP CALR ENST00000316448 human ensembl 74_37 +1 known missense c.610 p.P204S 1.000 pirsf_Calreticulin,pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf pirsf_Calreticulin,pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,prints_Calret/calnex - no_errors CALR HGNC ENSG00000179218 107 0 0 52 14 21.2121 LPHN1 0 genome.wustl.edu 37 19 14269310 14269310 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 14269310 14269310 G A SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known missense c.2219 p.T740M 1.000 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 84 0 0 58 20 25.641 APC2 0 genome.wustl.edu 37 19 1466991 1466991 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 1466991 1466991 C A SNP APC2 ENST00000233607 human ensembl 74_37 +1 known missense c.3691 p.L1231M 0.999 NULL pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 30 0 0 10 6 37.5 PCSK4 0 genome.wustl.edu 37 19 1483747 1483747 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 1483747 1483747 G A SNP PCSK4 ENST00000588195 human ensembl 74_37 -1 known missense c.1279 p.R427W 0.958 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept - no_errors PCSK4 HGNC ENSG00000115257 30 0 0 18 8 30.7692 SLC1A6 0 genome.wustl.edu 37 19 15065082 15065082 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 15065082 15065082 C T SNP SLC1A6 ENST00000221742 human ensembl 74_37 -1 known missense c.1229 p.R410H 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 121 0 0 87 29 25 SYDE1 0 genome.wustl.edu 37 19 15224566 15224566 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 15224566 15224566 G A SNP SYDE1 ENST00000342784 human ensembl 74_37 +1 known missense c.2000 p.R667Q 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 220 0 0 153 54 26.087 MEX3D 0 genome.wustl.edu 37 19 1556587 1556587 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 1556587 1556587 C T SNP MEX3D ENST00000388824 human ensembl 74_37 -1 known missense c.931 p.G311R 0.993 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3D HGNC ENSG00000181588 54 0 0 32 15 31.9149 CPAMD8 0 genome.wustl.edu 37 19 17013616 17013616 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 17013616 17013616 C T SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.4669 p.V1557I 0.993 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 235 0 0 141 59 29.5 CPAMD8 0 genome.wustl.edu 37 19 17091392 17091392 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 17091392 17091392 C T SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known silent c.1641 p.Q547 1.000 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 130 0 0 79 35 30.7018 B3GNT3 0 genome.wustl.edu 37 19 17922436 17922436 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 17922436 17922436 C T SNP B3GNT3 ENST00000318683 human ensembl 74_37 +1 known silent c.624 p.N208 0.993 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GNT3 HGNC ENSG00000179913 86 0 0 44 21 32.3077 KIAA1683 0 genome.wustl.edu 37 19 18376825 18376825 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 18376825 18376825 G A SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known missense c.1525 p.R509C 0.059 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 127 1 0.78125 94 32 25.3968 CERS1 0 genome.wustl.edu 37 19 19004284 19004284 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 19004284 19004284 G A SNP CERS1 ENST00000427170 human ensembl 74_37 -1 known missense c.350 p.A117V 0.988 pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom - no_errors CERS1 HGNC ENSG00000223802 31 0 0 13 3 18.75 COPE 0 genome.wustl.edu 37 19 19010503 19010503 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 19010503 19010503 G A SNP COPE ENST00000262812 human ensembl 74_37 -1 known silent c.912 p.Y304 0.994 pfam_Coatomer_esu,pirsf_Coatomer_esu pfam_Coatomer_esu,pirsf_Coatomer_esu - no_errors COPE HGNC ENSG00000105669 70 0 0 41 12 22.6415 SUGP1 0 genome.wustl.edu 37 19 19414844 19414844 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 19414844 19414844 T C SNP SUGP1 ENST00000334782 human ensembl 74_37 -1 known missense c.547 p.T183A 0.000 NULL NULL - no_errors SUGP1 HGNC ENSG00000105705 244 0 0 158 55 25.8216 BTBD2 0 genome.wustl.edu 37 19 1993114 1993114 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 1993114 1993114 C A SNP BTBD2 ENST00000255608 human ensembl 74_37 -1 known missense c.589 p.A197S 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD2 HGNC ENSG00000133243 40 0 0 34 11 24.4444 ZNF85 0 genome.wustl.edu 37 19 21132748 21132748 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 21132748 21132748 T C SNP ZNF85 ENST00000328178 human ensembl 74_37 +1 known silent c.1428 p.H476 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF85 HGNC ENSG00000105750 34 0 0 27 10 27.027 ZNF676 0 genome.wustl.edu 37 19 22363776 22363776 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 22363776 22363776 G A SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.743 p.T248I 0.999 pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 118 0 0 69 15 17.8571 LOC440518 0 genome.wustl.edu 37 19 22780152 22780152 + RNA SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 22780152 22780152 T C SNP LOC440518 ENST00000597408 human ensembl 74_37 +1 known rna NULL NULL 0.553 - - - no_errors CTC-457E21.3 Clone_based_vega_gene ENSG00000269332 60 0 0 44 17 27.8689 ZNF554 0 genome.wustl.edu 37 19 2833974 2833974 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 2833974 2833974 C T SNP ZNF554 ENST00000317243 human ensembl 74_37 +1 known silent c.741 p.S247 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF554 HGNC ENSG00000172006 129 0 0 65 24 26.9663 ZNF77 0 genome.wustl.edu 37 19 2934023 2934023 + Nonsense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 2934023 2934023 G A SNP ZNF77 ENST00000314531 human ensembl 74_37 -1 known nonsense c.1102 p.R368* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF77 HGNC ENSG00000175691 82 0 0 48 18 27.2727 URI1 0 genome.wustl.edu 37 19 30500253 30500253 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 30500253 30500253 C A SNP URI1 ENST00000542441 human ensembl 74_37 +1 known missense c.1028 p.P343H 1.000 NULL pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin - no_errors URI1 HGNC ENSG00000105176 45 0 0 29 3 9.375 SLC7A9 0 genome.wustl.edu 37 19 33353056 33353056 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 33353056 33353056 C T SNP SLC7A9 ENST00000023064 human ensembl 74_37 -1 known silent c.672 p.A224 0.227 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 164 0 0 106 42 28.3784 SLC7A9 0 genome.wustl.edu 37 19 33353080 33353080 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 33353080 33353080 C T SNP SLC7A9 ENST00000023064 human ensembl 74_37 -1 known silent c.648 p.L216 0.002 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 154 0 0 99 26 20.8 WDR88 0 genome.wustl.edu 37 19 33623249 33623249 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 33623249 33623249 C T SNP WDR88 ENST00000355868 human ensembl 74_37 +1 known silent c.174 p.L58 0.000 NULL pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR88 HGNC ENSG00000166359 212 0 0 126 36 22.2222 FZR1 0 genome.wustl.edu 37 19 3527008 3527008 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 3527008 3527008 G A SNP FZR1 ENST00000395095 human ensembl 74_37 +1 known missense c.418 p.D140N 0.972 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FZR1 HGNC ENSG00000105325 163 1 0.609756 98 39 28.4672 MAG 0 genome.wustl.edu 37 19 35786581 35786581 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 35786581 35786581 G A SNP MAG ENST00000392213 human ensembl 74_37 +1 known missense c.112 p.V38I 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 131 0 0 82 27 24.7706 ATP4A 0 genome.wustl.edu 37 19 36046612 36046612 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 36046612 36046612 G A SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known missense c.1972 p.R658C 0.999 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 261 0 0 145 58 28.5714 KIRREL2 0 genome.wustl.edu 37 19 36351526 36351526 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 36351526 36351526 C T SNP KIRREL2 ENST00000360202 human ensembl 74_37 +1 known silent c.885 p.N295 0.995 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 213 0 0 107 37 25.6944 ZNF829 0 genome.wustl.edu 37 19 37382942 37382942 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 37382942 37382942 A G SNP ZNF829 ENST00000520965 human ensembl 74_37 -1 known missense c.994 p.Y332H 0.171 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF829 HGNC ENSG00000185869 45 0 0 26 11 29.7297 ZFP30 0 genome.wustl.edu 37 19 38126828 38126828 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 38126828 38126828 T C SNP ZFP30 ENST00000351218 human ensembl 74_37 -1 known missense c.614 p.Q205R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP30 HGNC ENSG00000120784 119 0 0 57 23 28.75 ZNF607 0 genome.wustl.edu 37 19 38190427 38190427 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 38190427 38190427 C T SNP ZNF607 ENST00000355202 human ensembl 74_37 -1 known missense c.605 p.C202Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF607 HGNC ENSG00000198182 118 0 0 76 20 20.8333 SPRED3 0 genome.wustl.edu 37 19 38885084 38885084 + RNA SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 38885084 38885084 G A SNP SPRED3 ENST00000587564 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors SPRED3 HGNC ENSG00000188766 55 0 0 34 12 26.087 ENSG00000269688 0 genome.wustl.edu 37 19 39336106 39336106 + RNA SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 39336106 39336106 C T SNP ENSG00000269688 ENST00000600473 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC008982.2 Clone_based_vega_gene ENSG00000269688 14 0 0 5 5 50 EEF2 0 genome.wustl.edu 37 19 3978115 3978115 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 3978115 3978115 A G SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known missense c.1769 p.L590P 1.000 superfamily_Ribosomal_S5_D2-typ_fold pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 15 0 0 13 2 13.3333 SAMD4B 0 genome.wustl.edu 37 19 39847556 39847556 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 39847556 39847556 G A SNP SAMD4B ENST00000314471 human ensembl 74_37 +1 known missense c.23 p.G8D 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 39 0 0 25 10 28.5714 AKT2 0 genome.wustl.edu 37 19 40747850 40747850 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 40747850 40747850 C T SNP AKT2 ENST00000392038 human ensembl 74_37 -1 known missense c.568 p.A190T 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,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT2 HGNC ENSG00000105221 84 0 0 43 18 29.5082 HIPK4 0 genome.wustl.edu 37 19 40895647 40895647 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 40895647 40895647 C T SNP HIPK4 ENST00000291823 human ensembl 74_37 -1 known missense c.163 p.E55K 0.998 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 HIPK4 HGNC ENSG00000160396 239 0 0 157 42 21.1055 CYP2A7 0 genome.wustl.edu 37 19 41386388 41386388 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 41386388 41386388 C T SNP CYP2A7 ENST00000301146 human ensembl 74_37 -1 known silent c.489 p.T163 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC ENSG00000198077 150 0 0 102 52 33.7662 ATP1A3 0 genome.wustl.edu 37 19 42492087 42492087 + Splice_Site SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 42492087 42492087 C T SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known splice_site c.357+1 e4+1 1.000 - - - no_errors ATP1A3 HGNC ENSG00000105409 189 0 0 90 31 25.6198 CEACAM1 0 genome.wustl.edu 37 19 43026353 43026353 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 43026353 43026353 C T SNP CEACAM1 ENST00000161559 human ensembl 74_37 -1 known silent c.426 p.P142 0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM1 HGNC ENSG00000079385 259 0 0 143 50 25.9067 CBLC 0 genome.wustl.edu 37 19 45281204 45281204 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 45281204 45281204 G A SNP CBLC ENST00000270279 human ensembl 74_37 +1 known missense c.16 p.A6T 0.042 NULL pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING - no_errors CBLC HGNC ENSG00000142273 45 0 0 25 8 24.2424 ERCC1 0 genome.wustl.edu 37 19 45916943 45916943 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 45916943 45916943 G T SNP ERCC1 ENST00000013807 human ensembl 74_37 -1 known missense c.835 p.P279T 1.000 superfamily_RuvA_2-like pfam_DNA_repair_Rad10,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,tigrfam_DNA_repair_Rad10 - no_errors ERCC1 HGNC ENSG00000012061 125 0 0 87 21 19.4444 GPR4 0 genome.wustl.edu 37 19 46094061 46094061 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 46094061 46094061 A G SNP GPR4 ENST00000323040 human ensembl 74_37 -1 known missense c.1064 p.L355P 0.998 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_orph,prints_GPCR_Rhodpsn,prints_Psych_rcpt - no_errors GPR4 HGNC ENSG00000177464 111 0 0 72 28 28 RSPH6A 0 genome.wustl.edu 37 19 46299145 46299145 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 46299145 46299145 G A SNP RSPH6A ENST00000221538 human ensembl 74_37 -1 known silent c.2136 p.G712 0.239 NULL pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 211 0 0 96 51 34.6939 DPP9 0 genome.wustl.edu 37 19 4682823 4682823 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 4682823 4682823 C T SNP DPP9 ENST00000262960 human ensembl 74_37 -1 known missense c.2359 p.V787I 0.992 pfam_Peptidase_S9,pfam_X-Pro-like_dom pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP9 HGNC ENSG00000142002 18 0 0 13 5 27.7778 RASIP1 0 genome.wustl.edu 37 19 49238458 49238458 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 49238458 49238458 C T SNP RASIP1 ENST00000222145 human ensembl 74_37 -1 known missense c.1174 p.A392T 0.953 superfamily_SMAD_FHA_domain pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC ENSG00000105538 50 0 0 29 11 27.5 TULP2 0 genome.wustl.edu 37 19 49398261 49398261 + Nonsense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 49398261 49398261 G A SNP TULP2 ENST00000221399 human ensembl 74_37 -1 known nonsense c.508 p.R170* 0.000 NULL pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP2 HGNC ENSG00000104804 67 0 0 29 10 25.641 NUCB1 0 genome.wustl.edu 37 19 49416789 49416789 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 49416789 49416789 G T SNP NUCB1 ENST00000263273 human ensembl 74_37 +1 known missense c.725 p.R242M 1.000 pfscan_EF_hand_dom pfscan_EF_hand_dom - no_errors NUCB1 HGNC ENSG00000104805 100 0 0 58 15 20.5479 MED25 0 genome.wustl.edu 37 19 50333052 50333052 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 50333052 50333052 C A SNP MED25 ENST00000312865 human ensembl 74_37 +1 known missense c.535 p.H179N 1.000 pfam_Mediator_Med25_VWA pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 21 0 0 10 10 50 MED25 0 genome.wustl.edu 37 19 50335366 50335366 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 50335366 50335366 G A SNP MED25 ENST00000312865 human ensembl 74_37 +1 known silent c.1326 p.E442 0.999 pfam_Mediator_Med25 pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 76 0 0 45 15 25 MYH14 0 genome.wustl.edu 37 19 50764825 50764825 + Silent SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 50764825 50764825 C A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known silent c.2518 p.R840 0.999 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 52 0 0 37 12 24.4898 LRRC4B 0 genome.wustl.edu 37 19 51021769 51021769 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 51021769 51021769 C T SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.1201 p.G401S 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 62 0 0 40 11 21.5686 KLK6 0 genome.wustl.edu 37 19 51465088 51465088 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 51465088 51465088 C T SNP KLK6 ENST00000310157 human ensembl 74_37 -1 known missense c.494 p.R165H 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK6 HGNC ENSG00000167755 135 0 0 77 26 25.2427 KLK12 0 genome.wustl.edu 37 19 51537328 51537328 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 51537328 51537328 C T SNP KLK12 ENST00000250351 human ensembl 74_37 -1 known nonsense c.105 p.W35* 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK12 HGNC ENSG00000186474 16 0 0 9 3 25 IGLON5 0 genome.wustl.edu 37 19 51826942 51826942 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 51826942 51826942 G A SNP IGLON5 ENST00000270642 human ensembl 74_37 +1 known missense c.185 p.R62H 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGLON5 HGNC ENSG00000142549 54 0 0 41 21 33.871 SIGLEC12 0 genome.wustl.edu 37 19 52000164 52000164 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 52000164 52000164 G A SNP SIGLEC12 ENST00000291707 human ensembl 74_37 -1 known silent c.1569 p.D523 0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC12 HGNC ENSG00000254521 143 0 0 88 22 20 SIGLEC5 0 genome.wustl.edu 37 19 52115535 52115535 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 52115535 52115535 G A SNP SIGLEC5 ENST00000222107 human ensembl 74_37 -1 known silent c.1605 p.D535 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 174 0 0 98 30 23.4375 FPR1 0 genome.wustl.edu 37 19 52249509 52249509 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 52249509 52249509 C T SNP FPR1 ENST00000304748 human ensembl 74_37 -1 known missense c.739 p.A247T 0.040 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR1 HGNC ENSG00000171051 97 0 0 50 17 25.3731 ZNF841 0 genome.wustl.edu 37 19 52569290 52569290 + Silent SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 52569290 52569290 A G SNP ZNF841 ENST00000389534 human ensembl 74_37 -1 known silent c.1845 p.H615 0.282 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF841 HGNC ENSG00000197608 149 0 0 88 25 22.1239 PTPRS 0 genome.wustl.edu 37 19 5258089 5258089 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 5258089 5258089 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known silent c.648 p.E216 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 155 0 0 99 23 18.8525 VN1R4 0 genome.wustl.edu 37 19 53770708 53770708 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 53770708 53770708 C T SNP VN1R4 ENST00000311170 human ensembl 74_37 -1 known missense c.211 p.V71I 0.000 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R4 HGNC ENSG00000228567 62 0 0 50 4 7.40741 TPM3P9 0 genome.wustl.edu 37 19 53945190 53945190 + RNA SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 53945190 53945190 G T SNP TPM3P9 ENST00000424846 human ensembl 74_37 +1 known rna NULL NULL 0.917 - - - no_errors TPM3P9 HGNC ENSG00000241015 17 0 0 17 3 15 TFPT 0 genome.wustl.edu 37 19 54618065 54618065 + Silent SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 54618065 54618065 C A SNP TFPT ENST00000391759 human ensembl 74_37 -1 known silent c.39 p.V13 1.000 NULL NULL - no_errors TFPT HGNC ENSG00000105619 284 0 0 168 44 20.7547 PRPF31 0 genome.wustl.edu 37 19 54631527 54631527 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 54631527 54631527 C T SNP PRPF31 ENST00000321030 human ensembl 74_37 +1 known missense c.1025 p.P342L 0.999 pfam_Prp31_C pfam_Nop_dom,pfam_Prp31_C,pfam_NOSIC,smart_NOSIC - no_errors PRPF31 HGNC ENSG00000105618 13 0 0 2 3 60 LENG8 0 genome.wustl.edu 37 19 54967272 54967272 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 54967272 54967272 G A SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known silent c.1152 p.T384 0.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 138 0 0 83 7 7.77778 NLRP7 0 genome.wustl.edu 37 19 55450913 55450913 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 55450913 55450913 G A SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known missense c.1358 p.A453V 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 78 0 0 41 20 32.7869 NLRP2 0 genome.wustl.edu 37 19 55493930 55493930 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 55493930 55493930 C T SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known silent c.864 p.D288 0.999 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 100 0 0 61 27 30.6818 PPP6R1 0 genome.wustl.edu 37 19 55748048 55748048 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 55748048 55748048 C T SNP PPP6R1 ENST00000412770 human ensembl 74_37 -1 known missense c.1951 p.A651T 0.000 superfamily_ARM-type_fold pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R1 HGNC ENSG00000105063 20 0 0 15 6 28.5714 ZNF784 0 genome.wustl.edu 37 19 56133455 56133455 + Nonsense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 56133455 56133455 G A SNP ZNF784 ENST00000325351 human ensembl 74_37 -1 known nonsense c.634 p.R212* 0.139 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF784 HGNC ENSG00000179922 18 0 0 6 4 40 NLRP4 0 genome.wustl.edu 37 19 56369488 56369488 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 56369488 56369488 C T SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known silent c.729 p.P243 0.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 171 0 0 91 39 30 ZNF470 0 genome.wustl.edu 37 19 57089695 57089695 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 57089695 57089695 G A SNP ZNF470 ENST00000330619 human ensembl 74_37 +1 known missense c.1898 p.R633H 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF470 HGNC ENSG00000197016 61 0 0 41 14 25.4545 ZNF835 0 genome.wustl.edu 37 19 57175695 57175695 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 57175695 57175695 G A SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.872 p.A291V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 35 0 0 30 10 25 ZIM2 0 genome.wustl.edu 37 19 57286260 57286260 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 57286260 57286260 G A SNP ZIM2 ENST00000221722 human ensembl 74_37 -1 known silent c.1380 p.Y460 0.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ENSG00000269699 60 0 0 35 11 23.913 ZNF543 0 genome.wustl.edu 37 19 57840064 57840064 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 57840064 57840064 C T SNP ZNF543 ENST00000321545 human ensembl 74_37 +1 known nonsense c.1234 p.Q412* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF543 HGNC ENSG00000178229 74 0 0 46 16 25.8065 ZNF543 0 genome.wustl.edu 37 19 57840091 57840091 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 57840091 57840091 A G SNP ZNF543 ENST00000321545 human ensembl 74_37 +1 known missense c.1261 p.K421E 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF543 HGNC ENSG00000178229 67 0 0 43 17 28.3333 ZNF17 0 genome.wustl.edu 37 19 57932498 57932498 + Silent SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 57932498 57932498 A G SNP ZNF17 ENST00000601808 human ensembl 74_37 +1 known silent c.1638 p.R546 0.006 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF17 HGNC ENSG00000186272 77 0 0 44 16 26.6667 ZNF8 0 genome.wustl.edu 37 19 58806556 58806556 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 58806556 58806556 A G SNP ZNF8 ENST00000196548 human ensembl 74_37 +1 known missense c.1382 p.H461R 0.006 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF8 Uniprot_gn ENSG00000083842 324 0 0 191 73 27.6515 ZNF324 0 genome.wustl.edu 37 19 58982184 58982184 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 58982184 58982184 G A SNP ZNF324 ENST00000196482 human ensembl 74_37 +1 known missense c.325 p.V109I 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF324 HGNC ENSG00000083812 195 0 0 97 43 30.7143 ZNF446 0 genome.wustl.edu 37 19 58988846 58988846 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 58988846 58988846 C T SNP ZNF446 ENST00000594369 human ensembl 74_37 +1 known silent c.261 p.R87 0.124 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 86 0 0 57 22 27.8481 TRIM28 0 genome.wustl.edu 37 19 59059182 59059182 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 59059182 59059182 A G SNP TRIM28 ENST00000253024 human ensembl 74_37 +1 known missense c.863 p.Q288R 1.000 smart_Bbox_C pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC ENSG00000130726 144 0 0 71 28 28.2828 ACSBG2 0 genome.wustl.edu 37 19 6187702 6187702 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 6187702 6187702 C T SNP ACSBG2 ENST00000252669 human ensembl 74_37 +1 known silent c.1773 p.T591 0.004 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSBG2 HGNC ENSG00000130377 96 0 0 54 29 34.9398 POLRMT 0 genome.wustl.edu 37 19 621151 621151 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 621151 621151 C T SNP POLRMT ENST00000588649 human ensembl 74_37 -1 known silent c.2547 p.T849 0.012 pfam_DNA-dir_Rpol_phage-type pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 105 0 0 75 20 21.0526 MIR3940 0 genome.wustl.edu 37 19 6416470 6416470 + RNA SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 6416470 6416470 G T SNP MIR3940 ENST00000579148 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3940 HGNC ENSG00000266722 32 0 0 18 5 21.7391 EMR4P 0 genome.wustl.edu 37 19 6974669 6974669 + RNA SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 6974669 6974669 G T SNP EMR4P ENST00000600751 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EMR4P HGNC ENSG00000268758 30 0 0 15 5 25 XAB2 0 genome.wustl.edu 37 19 7685556 7685556 + Splice_Site SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 7685556 7685556 C A SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known splice_site c.1972-1 e15-1 1.000 - - - no_errors XAB2 HGNC ENSG00000076924 65 0 0 44 14 24.1379 LRRC8E 0 genome.wustl.edu 37 19 7964581 7964581 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 7964581 7964581 C T SNP LRRC8E ENST00000306708 human ensembl 74_37 +1 known missense c.1174 p.R392C 0.997 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC ENSG00000171017 83 0 0 55 12 17.9104 FBN3 0 genome.wustl.edu 37 19 8201150 8201150 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 8201150 8201150 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known silent c.1389 p.C463 0.133 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 136 0 0 74 28 27.451 MARCH2 0 genome.wustl.edu 37 19 8491553 8491553 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 8491553 8491553 G A SNP MARCH2 ENST00000215555 human ensembl 74_37 +1 known silent c.237 p.P79 0.123 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH2 HGNC ENSG00000099785 81 0 0 56 14 20 HNRNPM 0 genome.wustl.edu 37 19 8550766 8550766 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 8550766 8550766 G A SNP HNRNPM ENST00000325495 human ensembl 74_37 +1 known missense c.1454 p.R485H 1.000 NULL pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPM HGNC ENSG00000099783 168 0 0 114 36 24 ELANE 0 genome.wustl.edu 37 19 855593 855593 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 855593 855593 C T SNP ELANE ENST00000263621 human ensembl 74_37 +1 known silent c.396 p.N132 0.788 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors ELANE HGNC ENSG00000197561 103 0 0 55 18 24.6575 ADAMTS10 0 genome.wustl.edu 37 19 8670161 8670161 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 8670161 8670161 C T SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known silent c.171 p.S57 0.065 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 37 0 0 9 5 35.7143 MUC16 0 genome.wustl.edu 37 19 8997482 8997482 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 8997482 8997482 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.40940 p.R13647Q 0.000 pfam_SEA_dom,pfscan_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 191 0 0 82 38 31.6667 OR7G1 0 genome.wustl.edu 37 19 9225634 9225634 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 9225634 9225634 C T SNP OR7G1 ENST00000293614 human ensembl 74_37 -1 known missense c.806 p.R269Q 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G1 HGNC ENSG00000161807 107 0 0 46 22 32.3529 ZNF560 0 genome.wustl.edu 37 19 9578489 9578489 + Silent SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 9578489 9578489 A G SNP ZNF560 ENST00000301480 human ensembl 74_37 -1 known silent c.1134 p.C378 0.772 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF560 HGNC ENSG00000198028 118 0 0 80 29 26.6055 EIF5B 0 genome.wustl.edu 37 2 100015340 100015340 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 100015340 100015340 C T SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known missense c.3523 p.H1175Y 1.000 superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 46 0 0 25 9 26.4706 RANBP2 0 genome.wustl.edu 37 2 109380371 109380371 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 109380371 109380371 C T SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.3376 p.R1126W 0.996 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 140 0 0 72 14 16.2791 GLI2 0 genome.wustl.edu 37 2 121712924 121712924 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 121712924 121712924 C T SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known silent c.561 p.P187 0.003 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 67 0 0 45 13 22.4138 DARS 0 genome.wustl.edu 37 2 136673804 136673804 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 136673804 136673804 G A SNP DARS ENST00000264161 human ensembl 74_37 -1 known silent c.1098 p.D366 0.266 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asp-tRNA_synthase pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asp-tRNA_synthase - no_errors DARS HGNC ENSG00000115866 74 0 0 47 18 27.6923 NMI 0 genome.wustl.edu 37 2 152135404 152135404 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 152135404 152135404 C T SNP NMI ENST00000243346 human ensembl 74_37 -1 known missense c.278 p.S93N 0.001 pfam_Nmi/IFP35_N pfam_Nmi/IFP35_dom,pfam_Nmi/IFP35_N - no_errors NMI HGNC ENSG00000123609 23 0 0 14 2 12.5 FMNL2 0 genome.wustl.edu 37 2 153476212 153476212 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 153476212 153476212 T C SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known missense c.1817 p.V606A 1.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 28 0 0 21 5 19.2308 NBAS 0 genome.wustl.edu 37 2 15679412 15679412 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 15679412 15679412 C T SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.448 p.A150T 1.000 superfamily_Quino_amine_DH_bsu pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 75 0 0 45 7 13.4615 DDX1 0 genome.wustl.edu 37 2 15771006 15771006 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 15771006 15771006 T C SNP DDX1 ENST00000233084 human ensembl 74_37 +1 known silent c.2199 p.P733 0.978 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX1 HGNC ENSG00000079785 110 0 0 43 21 32.8125 GALNT5 0 genome.wustl.edu 37 2 158115711 158115711 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 158115711 158115711 C A SNP GALNT5 ENST00000259056 human ensembl 74_37 +1 known missense c.1117 p.P373T 0.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 116 0 0 76 20 20.8333 TBR1 0 genome.wustl.edu 37 2 162280036 162280036 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 162280036 162280036 G A SNP TBR1 ENST00000389554 human ensembl 74_37 +1 known silent c.1347 p.A449 0.873 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 40 0 0 20 9 31.0345 SCN2A 0 genome.wustl.edu 37 2 166245972 166245972 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 166245972 166245972 T C SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.5656 p.S1886P 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 85 0 0 49 13 20.9677 METAP1D 0 genome.wustl.edu 37 2 172945088 172945088 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 172945088 172945088 C T SNP METAP1D ENST00000315796 human ensembl 74_37 +1 known missense c.962 p.T321M 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1 - no_errors METAP1D HGNC ENSG00000172878 287 0 0 180 62 25.6198 ZAK 0 genome.wustl.edu 37 2 174052313 174052313 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 174052313 174052313 C T SNP ZAK ENST00000375213 human ensembl 74_37 +1 known missense c.377 p.P126L 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_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_gn ENSG00000091436 78 0 0 48 12 20 TTN 0 genome.wustl.edu 37 2 179397303 179397303 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 179397303 179397303 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.96335 p.R32112M 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 123 0 0 76 25 24.7525 TTN 0 genome.wustl.edu 37 2 179428319 179428319 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 179428319 179428319 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.74836 p.V24946I 0.107 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 151 0 0 81 28 25.6881 TTN 0 genome.wustl.edu 37 2 179457588 179457588 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 179457588 179457588 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.51554 p.Y17185C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 202 0 0 113 32 22.069 KCNS3 0 genome.wustl.edu 37 2 18112824 18112824 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 18112824 18112824 C T SNP KCNS3 ENST00000304101 human ensembl 74_37 +1 known silent c.549 p.S183 0.007 prints_K_chnl 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_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 61 0 0 33 17 34 NEUROD1 0 genome.wustl.edu 37 2 182542721 182542721 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 182542721 182542721 C T SNP NEUROD1 ENST00000295108 human ensembl 74_37 -1 known silent c.867 p.P289 0.208 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 101 0 0 78 18 18.75 FAM171B 0 genome.wustl.edu 37 2 187618752 187618752 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 187618752 187618752 G A SNP FAM171B ENST00000304698 human ensembl 74_37 +1 known missense c.988 p.A330T 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 103 0 0 56 22 28.2051 COL3A1 0 genome.wustl.edu 37 2 189863442 189863442 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 189863442 189863442 A G SNP COL3A1 ENST00000304636 human ensembl 74_37 +1 known missense c.2020 p.K674E 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 42 0 0 15 8 34.7826 MYT1L 0 genome.wustl.edu 37 2 1926216 1926216 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 1926216 1926216 G A SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.1325 p.T442M 0.993 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 144 0 0 84 31 26.9565 GTF3C3 0 genome.wustl.edu 37 2 197657704 197657704 + Silent SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 197657704 197657704 A G SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known silent c.387 p.N129 0.998 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 41 0 0 15 4 21.0526 MYT1L 0 genome.wustl.edu 37 2 1983514 1983514 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 1983514 1983514 C T SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known silent c.36 p.T12 0.991 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 60 0 0 38 11 22.449 SGOL2 0 genome.wustl.edu 37 2 201436999 201436999 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 201436999 201436999 G A SNP SGOL2 ENST00000357799 human ensembl 74_37 +1 known missense c.1930 p.G644S 0.000 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 110 0 0 73 18 19.7802 FZD7 0 genome.wustl.edu 37 2 202900994 202900994 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 202900994 202900994 A G SNP FZD7 ENST00000286201 human ensembl 74_37 +1 known missense c.1624 p.I542V 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD7 HGNC ENSG00000155760 164 0 0 103 30 22.5564 PTH2R 0 genome.wustl.edu 37 2 209358139 209358139 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 209358139 209358139 C T SNP PTH2R ENST00000272847 human ensembl 74_37 +1 known missense c.1408 p.R470C 0.153 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors PTH2R HGNC ENSG00000144407 63 0 0 33 19 36.5385 MAP2 0 genome.wustl.edu 37 2 210570356 210570356 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 210570356 210570356 C T SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.4637 p.S1546F 1.000 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 111 0 0 74 12 13.9535 CPS1 0 genome.wustl.edu 37 2 211457661 211457661 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 211457661 211457661 C T SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.1163 p.P388L 1.000 pfam_GATASE,tigrfam_CarbamoylP_synth_ssu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 131 0 0 64 12 15.7895 ABCA12 0 genome.wustl.edu 37 2 215872505 215872505 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 215872505 215872505 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.2538 p.S846 0.677 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 87 0 0 42 11 20.7547 TNS1 0 genome.wustl.edu 37 2 218696225 218696225 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 218696225 218696225 C T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.2951 p.G984D 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 18 0 0 22 6 21.4286 CXCR1 0 genome.wustl.edu 37 2 219028909 219028909 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 219028909 219028909 C T SNP CXCR1 ENST00000295683 human ensembl 74_37 -1 known silent c.1026 p.S342 0.795 prints_Chemokine_CXCR1 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR1,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR1 HGNC ENSG00000163464 122 0 0 80 19 19.1919 VIL1 0 genome.wustl.edu 37 2 219294155 219294155 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 219294155 219294155 G A SNP VIL1 ENST00000248444 human ensembl 74_37 +1 known missense c.715 p.A239T 0.986 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VIL1 HGNC ENSG00000127831 106 0 0 86 21 19.6262 PLCD4 0 genome.wustl.edu 37 2 219498840 219498840 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 219498840 219498840 T C SNP PLCD4 ENST00000417849 human ensembl 74_37 +1 known missense c.1619 p.V540A 1.000 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD4 HGNC ENSG00000115556 24 0 0 15 6 28.5714 FEV 0 genome.wustl.edu 37 2 219846895 219846895 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 219846895 219846895 C A SNP FEV ENST00000295727 human ensembl 74_37 -1 known missense c.211 p.G71C 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors FEV HGNC ENSG00000163497 55 0 0 30 8 21.0526 IHH 0 genome.wustl.edu 37 2 219920566 219920566 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 219920566 219920566 G A SNP IHH ENST00000295731 human ensembl 74_37 -1 known missense c.599 p.T200M 1.000 pirsf_Hedgehog,pfam_Hint_dom,prints_Hedgehog pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site - no_errors IHH HGNC ENSG00000163501 53 0 0 23 14 37.8378 CHPF 0 genome.wustl.edu 37 2 220405701 220405701 + Silent SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 220405701 220405701 C A SNP CHPF ENST00000243776 human ensembl 74_37 -1 known silent c.1035 p.L345 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CHPF HGNC ENSG00000123989 84 0 0 67 7 9.45946 OBSL1 0 genome.wustl.edu 37 2 220427220 220427220 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 220427220 220427220 G A SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.2857 p.R953C 0.926 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 96 0 0 52 20 27.7778 OBSL1 0 genome.wustl.edu 37 2 220428091 220428091 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 220428091 220428091 G A SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.2666 p.T889I 0.279 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 47 0 0 29 5 14.7059 STK11IP 0 genome.wustl.edu 37 2 220476441 220476441 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 220476441 220476441 G A SNP STK11IP ENST00000456909 human ensembl 74_37 +1 novel silent c.2220 p.P740 0.000 NULL NULL - no_errors STK11IP HGNC ENSG00000144589 90 0 0 54 18 25 PAX3 0 genome.wustl.edu 37 2 223161807 223161807 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 223161807 223161807 C T SNP PAX3 ENST00000392069 human ensembl 74_37 -1 known missense c.211 p.V71I 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 60 0 0 24 7 22.5806 DOCK10 0 genome.wustl.edu 37 2 225750838 225750838 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 225750838 225750838 G A SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.554 p.S185F 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 158 0 0 98 28 22.2222 TM4SF20 0 genome.wustl.edu 37 2 228228611 228228611 + Silent SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 228228611 228228611 A G SNP TM4SF20 ENST00000304568 human ensembl 74_37 -1 known silent c.519 p.S173 0.000 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF20 HGNC ENSG00000168955 141 0 0 104 24 18.75 TWIST2 0 genome.wustl.edu 37 2 239757216 239757216 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 239757216 239757216 C T SNP TWIST2 ENST00000448943 human ensembl 74_37 +1 known silent c.360 p.V120 0.990 superfamily_bHLH_dom,smart_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TWIST2 HGNC ENSG00000233608 24 0 0 6 5 45.4545 HDAC4 0 genome.wustl.edu 37 2 240036871 240036871 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 240036871 240036871 C T SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.1654 p.A552T 0.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 223 0 0 154 37 19.3717 OR6B3 0 genome.wustl.edu 37 2 240984626 240984626 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 240984626 240984626 C T SNP OR6B3 ENST00000319423 human ensembl 74_37 -1 known silent c.864 p.L288 0.287 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B3 HGNC ENSG00000178586 265 0 0 151 43 22.1649 MYEOV2 0 genome.wustl.edu 37 2 241069366 241069366 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 241069366 241069366 G A SNP MYEOV2 ENST00000307266 human ensembl 74_37 -1 known missense c.343 p.R115C 0.000 NULL NULL - no_errors MYEOV2 HGNC ENSG00000172428 125 0 0 88 12 12 ATAD2B 0 genome.wustl.edu 37 2 24149573 24149573 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 24149573 24149573 G T SNP ATAD2B ENST00000238789 human ensembl 74_37 -1 known missense c.68 p.P23H 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 8 0 0 4 3 42.8571 RNPEPL1 0 genome.wustl.edu 37 2 241512589 241512589 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 241512589 241512589 C T SNP RNPEPL1 ENST00000270357 human ensembl 74_37 +1 known silent c.39 p.G13 0.981 pfam_Peptidase_M1_N pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEPL1 HGNC ENSG00000142327 30 0 0 14 3 17.6471 KIF1A 0 genome.wustl.edu 37 2 241708580 241708580 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 241708580 241708580 G A SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known silent c.1467 p.G489 0.535 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 18 0 0 14 5 26.3158 CENPO 0 genome.wustl.edu 37 2 25038554 25038554 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 25038554 25038554 C T SNP CENPO ENST00000260662 human ensembl 74_37 +1 known missense c.523 p.H175Y 1.000 pfam_CENP-O pfam_CENP-O - no_errors CENPO HGNC ENSG00000138092 136 0 0 70 25 26.3158 ADCY3 0 genome.wustl.edu 37 2 25141779 25141779 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 25141779 25141779 G A SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known silent c.78 p.S26 0.036 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 63 0 0 27 12 30.7692 OTOF 0 genome.wustl.edu 37 2 26698267 26698267 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 26698267 26698267 G A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.3086 p.P1029L 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 80 0 0 49 18 26.8657 SLC5A6 0 genome.wustl.edu 37 2 27430328 27430328 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 27430328 27430328 C T SNP SLC5A6 ENST00000310574 human ensembl 74_37 -1 known missense c.191 p.R64H 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 82 0 0 41 16 28.0702 EIF2B4 0 genome.wustl.edu 37 2 27592748 27592748 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 27592748 27592748 G A SNP EIF2B4 ENST00000347454 human ensembl 74_37 -1 known missense c.70 p.P24S 0.985 NULL pfam_IF-2B-related - no_errors EIF2B4 HGNC ENSG00000115211 13 0 0 7 3 30 C2orf16 0 genome.wustl.edu 37 2 27803796 27803796 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 27803796 27803796 C T SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known nonsense c.4357 p.R1453* 0.003 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 194 0 0 124 45 26.6272 PLB1 0 genome.wustl.edu 37 2 28821628 28821628 + Splice_Site SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 28821628 28821628 G A SNP PLB1 ENST00000422425 human ensembl 74_37 +1 known splice_site c.2441+1 e34+1 0.996 - - - no_errors PLB1 HGNC ENSG00000163803 132 0 0 60 29 32.5843 ALK 0 genome.wustl.edu 37 2 29416518 29416518 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 29416518 29416518 C T SNP ALK ENST00000389048 human ensembl 74_37 -1 known missense c.4435 p.A1479T 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 194 0 0 110 40 26.6667 GALNT14 0 genome.wustl.edu 37 2 31178570 31178570 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 31178570 31178570 C T SNP GALNT14 ENST00000349752 human ensembl 74_37 -1 known missense c.568 p.A190T 0.998 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 114 0 0 66 27 29.0323 XDH 0 genome.wustl.edu 37 2 31567565 31567565 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 31567565 31567565 G A SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.3389 p.A1130V 1.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 75 0 0 44 12 21.4286 MYADML 0 genome.wustl.edu 37 2 33952599 33952599 + RNA SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 33952599 33952599 G A SNP MYADML ENST00000474610 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors MYADML HGNC ENSG00000239649 35 0 0 22 8 26.6667 NRXN1 0 genome.wustl.edu 37 2 50280512 50280512 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 50280512 50280512 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.4001 p.A1334V 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 118 0 0 72 30 29.4118 RTN4 0 genome.wustl.edu 37 2 55254422 55254422 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 55254422 55254422 T C SNP RTN4 ENST00000337526 human ensembl 74_37 -1 known silent c.813 p.E271 0.926 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 77 0 0 42 10 19.2308 PNPT1 0 genome.wustl.edu 37 2 55900055 55900055 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 55900055 55900055 G A SNP PNPT1 ENST00000415374 human ensembl 74_37 -1 known missense c.839 p.S280L 0.832 superfamily_PNPase_PH_RNA-bd_bac/org-type,pirsf_PNPase,tigrfam_PNPase pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase - no_errors PNPT1 HGNC ENSG00000138035 99 0 0 53 19 26.3889 VRK2 0 genome.wustl.edu 37 2 58362312 58362312 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 58362312 58362312 G T SNP VRK2 ENST00000340157 human ensembl 74_37 +1 known missense c.834 p.W278C 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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,pfscan_Prot_kinase_dom - no_errors VRK2 HGNC ENSG00000028116 146 0 0 60 17 22.0779 BCL11A 0 genome.wustl.edu 37 2 60688451 60688451 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 60688451 60688451 C T SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known silent c.1596 p.A532 0.946 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 45 0 0 18 11 37.931 ADD2 0 genome.wustl.edu 37 2 70890765 70890765 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 70890765 70890765 G A SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known missense c.1973 p.A658V 0.003 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 171 0 0 116 15 11.4504 ADD2 0 genome.wustl.edu 37 2 70904970 70904970 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 70904970 70904970 T C SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known missense c.1423 p.M475V 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 64 0 0 43 12 21.8182 ADD2 0 genome.wustl.edu 37 2 70919573 70919573 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 70919573 70919573 G A SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known missense c.667 p.R223C 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 52 0 0 27 10 27.027 TET3 0 genome.wustl.edu 37 2 74328185 74328185 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 74328185 74328185 G A SNP TET3 ENST00000409262 human ensembl 74_37 +1 known missense c.3865 p.E1289K 0.994 NULL NULL - no_errors TET3 HGNC ENSG00000187605 30 0 0 23 7 23.3333 INO80B 0 genome.wustl.edu 37 2 74684957 74684957 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 74684957 74684957 C A SNP INO80B ENST00000452361 human ensembl 74_37 +1 known missense c.1037 p.P346H 0.997 NULL pfam_INO80B_C,pfam_Znf_HIT - no_errors INO80B HGNC ENSG00000115274 67 0 0 37 12 24.4898 KIDINS220 0 genome.wustl.edu 37 2 8871439 8871439 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 8871439 8871439 G A SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known missense c.4727 p.A1576V 0.998 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 126 0 0 61 29 32.2222 ANKRD20A8P 0 genome.wustl.edu 37 2 95480821 95480821 + RNA SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 95480821 95480821 A G SNP ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.827 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 33 0 0 31 11 26.1905 ADRA2B 0 genome.wustl.edu 37 2 96781543 96781543 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 96781543 96781543 G A SNP ADRA2B ENST00000409345 human ensembl 74_37 -1 known missense c.346 p.R116C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2B HGNC ENSG00000222040 55 0 0 33 7 17.5 ZAP70 0 genome.wustl.edu 37 2 98351887 98351887 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 98351887 98351887 C T SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known silent c.1257 p.G419 0.012 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,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom 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 193 0 0 123 39 24.0741 TASP1 0 genome.wustl.edu 37 20 13514762 13514762 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 13514762 13514762 C T SNP TASP1 ENST00000337743 human ensembl 74_37 -1 known silent c.702 p.T234 0.110 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors TASP1 HGNC ENSG00000089123 182 0 0 101 55 35.2564 SIRPB2 0 genome.wustl.edu 37 20 1471995 1471995 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 1471995 1471995 G A SNP SIRPB2 ENST00000359801 human ensembl 74_37 -1 known missense c.11 p.T4M 0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIRPB2 HGNC ENSG00000196209 24 0 0 21 5 19.2308 SLC24A3 0 genome.wustl.edu 37 20 19193535 19193535 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 19193535 19193535 C T SNP SLC24A3 ENST00000328041 human ensembl 74_37 +1 known missense c.49 p.R17C 0.647 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A3 HGNC ENSG00000185052 13 0 0 5 3 37.5 C20orf26 0 genome.wustl.edu 37 20 20037346 20037346 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 20037346 20037346 C T SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known nonsense c.49 p.R17* 1.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 90 0 0 38 22 36.6667 C20orf26 0 genome.wustl.edu 37 20 20232281 20232281 + Nonsense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 20232281 20232281 C A SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known nonsense c.2202 p.C734* 1.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 163 0 0 126 26 17.1053 GZF1 0 genome.wustl.edu 37 20 23346149 23346149 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 23346149 23346149 T C SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known missense c.1129 p.F377L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 174 0 0 159 31 16.3158 CSTL1 0 genome.wustl.edu 37 20 23421091 23421091 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 23421091 23421091 C T SNP CSTL1 ENST00000246020 human ensembl 74_37 +1 known nonsense c.187 p.R63* 0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CSTL1 HGNC ENSG00000125823 163 0 0 140 37 20.904 NOP56 0 genome.wustl.edu 37 20 2637428 2637428 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 2637428 2637428 A G SNP NOP56 ENST00000329276 human ensembl 74_37 +1 known missense c.1168 p.T390A 1.000 pfam_Nop_dom pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP56 HGNC ENSG00000101361 73 0 0 71 14 16.4706 XKR7 0 genome.wustl.edu 37 20 30584373 30584373 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 30584373 30584373 C T SNP XKR7 ENST00000562532 human ensembl 74_37 +1 known missense c.853 p.R285W 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000260903 58 0 0 40 11 21.5686 XKR7 0 genome.wustl.edu 37 20 30584709 30584709 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 30584709 30584709 G A SNP XKR7 ENST00000562532 human ensembl 74_37 +1 known missense c.1189 p.A397T 0.980 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000260903 98 0 0 77 24 23.7624 BPIFB4 0 genome.wustl.edu 37 20 31672738 31672738 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 31672738 31672738 C T SNP BPIFB4 ENST00000375483 human ensembl 74_37 +1 known missense c.718 p.R240W 0.995 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 69 0 0 52 11 17.4603 ACSS2 0 genome.wustl.edu 37 20 33464483 33464483 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 33464483 33464483 G A SNP ACSS2 ENST00000253382 human ensembl 74_37 +1 known missense c.35 p.S12N 0.870 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSS2 HGNC ENSG00000131069 11 0 0 9 3 25 MYH7B 0 genome.wustl.edu 37 20 33582038 33582038 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 33582038 33582038 C T SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.2660 p.P887L 0.998 superfamily_P-loop_NTPase pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 240 1 0.414938 182 46 20.1754 PROCR 0 genome.wustl.edu 37 20 33764042 33764042 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 33764042 33764042 G A SNP PROCR ENST00000216968 human ensembl 74_37 +1 known missense c.394 p.E132K 0.049 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors PROCR HGNC ENSG00000101000 150 1 0.662252 108 64 37.2093 CEP250 0 genome.wustl.edu 37 20 34050329 34050329 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 34050329 34050329 A G SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.137 p.Q46R 1.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 24 0 0 27 9 25 CEP250 0 genome.wustl.edu 37 20 34090421 34090421 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 34090421 34090421 G T SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.4224 p.Q1408H 1.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 107 0 0 104 7 6.30631 CEP250 0 genome.wustl.edu 37 20 34091721 34091721 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 34091721 34091721 G A SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.5524 p.A1842T 0.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 41 0 0 46 4 8 TGIF2 0 genome.wustl.edu 37 20 35207307 35207307 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 35207307 35207307 G A SNP TGIF2 ENST00000373872 human ensembl 74_37 +1 known missense c.130 p.A44T 1.000 pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2 HGNC ENSG00000118707 196 0 0 136 35 20.4678 SOGA1 0 genome.wustl.edu 37 20 35443741 35443741 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 35443741 35443741 C T SNP SOGA1 ENST00000237536 human ensembl 74_37 -1 known missense c.2104 p.E702K 1.000 NULL pfam_SOGA - no_errors SOGA1 HGNC ENSG00000149639 58 0 0 51 10 16.3934 TTI1 0 genome.wustl.edu 37 20 36640099 36640099 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 36640099 36640099 C T SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known missense c.2120 p.R707H 0.981 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 90 0 0 55 12 17.9104 KIAA1755 0 genome.wustl.edu 37 20 36850996 36850996 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 36850996 36850996 C T SNP KIAA1755 ENST00000279024 human ensembl 74_37 -1 known missense c.2272 p.A758T 0.997 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 49 0 0 37 14 27.451 RALGAPB 0 genome.wustl.edu 37 20 37168453 37168453 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 37168453 37168453 G A SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.2414 p.R805Q 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 57 0 0 59 12 16.9014 DHX35 0 genome.wustl.edu 37 20 37632537 37632537 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 37632537 37632537 G A SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known missense c.998 p.R333H 0.994 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_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 172 0 0 92 24 20.6897 CHD6 0 genome.wustl.edu 37 20 40043836 40043836 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 40043836 40043836 G A SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.6929 p.A2310V 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 138 0 0 126 27 17.6471 MYBL2 0 genome.wustl.edu 37 20 42328684 42328684 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 42328684 42328684 G A SNP MYBL2 ENST00000217026 human ensembl 74_37 +1 known silent c.951 p.S317 1.000 NULL pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 108 0 0 100 14 12.2807 RBPJL 0 genome.wustl.edu 37 20 43945492 43945492 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 43945492 43945492 C T SNP RBPJL ENST00000343694 human ensembl 74_37 +1 known missense c.1447 p.P483S 0.967 NULL pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC ENSG00000124232 163 0 0 124 27 17.8808 RBPJL 0 genome.wustl.edu 37 20 43945567 43945567 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 43945567 43945567 C T SNP RBPJL ENST00000343694 human ensembl 74_37 +1 known missense c.1522 p.R508C 0.955 NULL pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC ENSG00000124232 177 0 0 155 36 18.8482 ZSWIM3 0 genome.wustl.edu 37 20 44507168 44507168 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 44507168 44507168 G A SNP ZSWIM3 ENST00000255152 human ensembl 74_37 +1 known silent c.1971 p.Q657 0.538 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 250 0 0 217 36 14.2292 SLC13A3 0 genome.wustl.edu 37 20 45192184 45192184 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 45192184 45192184 G A SNP SLC13A3 ENST00000279027 human ensembl 74_37 -1 known missense c.1501 p.R501C 1.000 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A3 HGNC ENSG00000158296 49 0 0 34 6 15 TP53RK 0 genome.wustl.edu 37 20 45315714 45315714 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 45315714 45315714 C T SNP TP53RK ENST00000372114 human ensembl 74_37 -1 known missense c.440 p.G147E 0.999 pfam_LipoPS_kinase,pfam_Prot_kinase_dom,pfam_RIO-like_kinase,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom,tigrfam_Bud32 pfam_LipoPS_kinase,pfam_Prot_kinase_dom,pfam_RIO-like_kinase,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom,tigrfam_Bud32 - no_errors TP53RK HGNC ENSG00000172315 205 1 0.485437 169 36 17.561 PREX1 0 genome.wustl.edu 37 20 47244406 47244406 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 47244406 47244406 C T SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.4862 p.R1621Q 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 46 0 0 22 6 21.4286 ZNFX1 0 genome.wustl.edu 37 20 47865967 47865967 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 47865967 47865967 C T SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known silent c.3594 p.S1198 0.004 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 206 0 0 148 36 19.5652 ZNFX1 0 genome.wustl.edu 37 20 47887288 47887288 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 47887288 47887288 C T SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known missense c.1061 p.R354H 0.998 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 222 0 0 195 30 13.3333 PTGIS 0 genome.wustl.edu 37 20 48166701 48166701 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 48166701 48166701 G T SNP PTGIS ENST00000244043 human ensembl 74_37 -1 known missense c.100 p.L34M 0.776 superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors PTGIS HGNC ENSG00000124212 99 0 0 69 15 17.8571 KCNG1 0 genome.wustl.edu 37 20 49620462 49620462 + RNA SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 49620462 49620462 C T SNP KCNG1 ENST00000506387 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNG1 HGNC ENSG00000026559 13 0 0 21 3 12.5 NFATC2 0 genome.wustl.edu 37 20 50139969 50139969 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 50139969 50139969 G A SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.811 p.R271C 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 70 0 0 46 13 22.0339 ATP9A 0 genome.wustl.edu 37 20 50241845 50241845 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 50241845 50241845 C T SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known silent c.1902 p.T634 0.198 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 98 0 0 71 19 21.1111 SALL4 0 genome.wustl.edu 37 20 50401022 50401022 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 50401022 50401022 C T SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known missense c.2944 p.V982M 0.817 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 143 0 0 78 45 36.5854 RAE1 0 genome.wustl.edu 37 20 55948536 55948536 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 55948536 55948536 G A SNP RAE1 ENST00000371242 human ensembl 74_37 +1 known silent c.648 p.R216 0.837 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RAE1 HGNC ENSG00000101146 82 0 0 54 20 27.027 CTCFL 0 genome.wustl.edu 37 20 56098859 56098859 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 56098859 56098859 C T SNP CTCFL ENST00000423479 human ensembl 74_37 -1 known missense c.403 p.A135T 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 187 0 0 153 30 16.3934 NPEPL1 0 genome.wustl.edu 37 20 57269566 57269566 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 57269566 57269566 G A SNP NPEPL1 ENST00000356091 human ensembl 74_37 +1 known missense c.425 p.R142Q 0.511 NULL pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB - no_errors NPEPL1 HGNC ENSG00000215440 100 0 0 93 25 21.1864 TUBB1 0 genome.wustl.edu 37 20 57599419 57599419 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 57599419 57599419 G A SNP TUBB1 ENST00000217133 human ensembl 74_37 +1 known missense c.937 p.V313M 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB1 HGNC ENSG00000101162 84 0 0 76 22 22.449 CDH4 0 genome.wustl.edu 37 20 60503335 60503335 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 60503335 60503335 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.1859 p.A620V 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 352 0 0 269 55 16.9753 LAMA5 0 genome.wustl.edu 37 20 60913399 60913399 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 60913399 60913399 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.1645 p.A549T 0.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 32 0 0 24 6 20 CHRNA4 0 genome.wustl.edu 37 20 61981063 61981063 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 61981063 61981063 G A SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known missense c.1700 p.A567V 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 112 0 0 122 19 13.4752 KCNQ2 0 genome.wustl.edu 37 20 62038258 62038258 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 62038258 62038258 C T SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known silent c.2382 p.T794 0.865 pfam_Ankyrin-G_BS pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 24 0 0 29 7 19.4444 MYT1 0 genome.wustl.edu 37 20 62853330 62853330 + Missense_Mutation SNP C C G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 62853330 62853330 C G SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.2407 p.P803A 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 66 0 0 81 11 11.9565 MYT1 0 genome.wustl.edu 37 20 62863600 62863600 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 62863600 62863600 C T SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.2840 p.A947V 1.000 pfam_Znf_C2HC pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 90 0 0 63 15 19.2308 PCMTD2 0 genome.wustl.edu 37 20 62904883 62904883 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 62904883 62904883 G A SNP PCMTD2 ENST00000308824 human ensembl 74_37 +1 known missense c.1016 p.R339H 0.962 NULL pfam_PCMT - no_errors PCMTD2 HGNC ENSG00000203880 191 0 0 168 43 20.3791 PLCB1 0 genome.wustl.edu 37 20 8630047 8630047 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 8630047 8630047 G A SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.545 p.R182Q 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 74 0 0 61 12 16.4384 RSPO4 0 genome.wustl.edu 37 20 947857 947857 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 947857 947857 C T SNP RSPO4 ENST00000217260 human ensembl 74_37 -1 known silent c.369 p.P123 0.040 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO4 HGNC ENSG00000101282 93 0 0 100 23 18.6992 TMPRSS15 0 genome.wustl.edu 37 21 19744529 19744529 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 19744529 19744529 G A SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known silent c.645 p.D215 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 89 0 0 32 11 25.5814 KRTAP13-4 0 genome.wustl.edu 37 21 31802859 31802859 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 31802859 31802859 C T SNP KRTAP13-4 ENST00000334068 human ensembl 74_37 +1 known missense c.266 p.S89F 0.044 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-4 HGNC ENSG00000186971 64 0 0 45 13 22.4138 PAXBP1 0 genome.wustl.edu 37 21 34134492 34134492 + Silent SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 34134492 34134492 A G SNP PAXBP1 ENST00000331923 human ensembl 74_37 -1 known silent c.786 p.S262 0.799 NULL pfam_GCFC_dom - no_errors PAXBP1 HGNC ENSG00000159086 79 0 0 48 14 22.5806 SON 0 genome.wustl.edu 37 21 34923050 34923050 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 34923050 34923050 G A SNP SON ENST00000356577 human ensembl 74_37 +1 known missense c.1513 p.E505K 1.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 292 0 0 181 54 22.9787 BRWD1 0 genome.wustl.edu 37 21 40610462 40610462 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 40610462 40610462 G A SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known missense c.2519 p.S840L 0.995 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 63 0 0 32 11 25.5814 PRDM15 0 genome.wustl.edu 37 21 43230715 43230715 + RNA SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 43230715 43230715 C T SNP PRDM15 ENST00000470586 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors PRDM15 HGNC ENSG00000141956 30 0 0 13 3 18.75 PWP2 0 genome.wustl.edu 37 21 45534493 45534493 + RNA SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 45534493 45534493 G A SNP PWP2 ENST00000486126 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors PWP2 HGNC ENSG00000241945 60 0 0 32 14 30.4348 PWP2 0 genome.wustl.edu 37 21 45540349 45540349 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 45540349 45540349 G A SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known missense c.1309 p.G437R 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 297 1 0.33557 178 46 20.5357 PWP2 0 genome.wustl.edu 37 21 45544527 45544527 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 45544527 45544527 C T SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known silent c.1884 p.F628 0.224 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 84 0 0 48 15 23.8095 DNMT3L 0 genome.wustl.edu 37 21 45671576 45671576 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 45671576 45671576 C A SNP DNMT3L ENST00000270172 human ensembl 74_37 -1 known missense c.699 p.E233D 0.932 NULL superfamily_Znf_FYVE_PHD - no_errors DNMT3L HGNC ENSG00000142182 49 0 0 31 12 27.907 TRPM2 0 genome.wustl.edu 37 21 45855098 45855098 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 45855098 45855098 G A SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known silent c.4059 p.T1353 0.964 superfamily_NUDIX_hydrolase_dom-like pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 82 0 0 65 18 21.6867 TSPEAR 0 genome.wustl.edu 37 21 45949813 45949813 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 45949813 45949813 G A SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known silent c.658 p.L220 0.998 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 36 0 0 28 13 31.7073 TSPEAR 0 genome.wustl.edu 37 21 45950952 45950952 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 45950952 45950952 G A SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known missense c.607 p.R203W 0.992 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 50 0 0 32 13 28.8889 KRTAP10-2 0 genome.wustl.edu 37 21 45971168 45971168 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 45971168 45971168 G A SNP KRTAP10-2 ENST00000391621 human ensembl 74_37 -1 known silent c.174 p.C58 0.997 NULL NULL - no_errors KRTAP10-2 HGNC ENSG00000205445 174 0 0 105 44 29.5302 KRTAP10-4 0 genome.wustl.edu 37 21 45994612 45994612 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 45994612 45994612 T C SNP KRTAP10-4 ENST00000400374 human ensembl 74_37 +1 known missense c.977 p.V326A 0.049 NULL NULL - no_errors KRTAP10-4 HGNC ENSG00000215454 376 0 0 236 78 24.8408 ITGB2 0 genome.wustl.edu 37 21 46309915 46309915 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 46309915 46309915 G A SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known silent c.1635 p.N545 0.000 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 79 0 0 62 26 29.5455 ADARB1 0 genome.wustl.edu 37 21 46596126 46596126 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 46596126 46596126 C T SNP ADARB1 ENST00000360697 human ensembl 74_37 +1 known silent c.510 p.A170 0.124 NULL pfam_A_deamin,pfam_dsRNA-bd_dom,superfamily_Cytokine_IL1-like,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB1 HGNC ENSG00000197381 51 0 0 45 17 27.4194 COL6A1 0 genome.wustl.edu 37 21 47423591 47423591 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 47423591 47423591 C T SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known silent c.2751 p.N917 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 72 0 0 45 16 26.2295 FTCD 0 genome.wustl.edu 37 21 47571587 47571587 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 47571587 47571587 G A SNP FTCD ENST00000359679 human ensembl 74_37 -1 known missense c.521 p.T174M 0.998 pfam_Formiminotransferase_N,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat - no_errors FTCD HGNC ENSG00000160282 109 1 0.909091 77 27 25.9615 PCNT 0 genome.wustl.edu 37 21 47865350 47865350 + RNA SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 47865350 47865350 G A SNP PCNT ENST00000480896 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PCNT HGNC ENSG00000160299 26 0 0 12 4 25 DIP2A 0 genome.wustl.edu 37 21 47976918 47976918 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 47976918 47976918 C T SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known missense c.3568 p.R1190W 0.898 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 15 0 0 8 2 20 PRMT2 0 genome.wustl.edu 37 21 48068533 48068533 + Splice_Site SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 48068533 48068533 T C SNP PRMT2 ENST00000355680 human ensembl 74_37 +1 known splice_site c.489+2 e4+2 1.000 - - - no_errors PRMT2 HGNC ENSG00000160310 140 1 0.70922 101 27 21.0938 ARVCF 0 genome.wustl.edu 37 22 19961779 19961779 + RNA SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 19961779 19961779 C T SNP ARVCF ENST00000480792 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARVCF HGNC ENSG00000099889 41 0 0 27 7 20.5882 CCDC116 0 genome.wustl.edu 37 22 21989326 21989326 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 21989326 21989326 G A SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known missense c.974 p.R325H 0.701 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 114 0 0 80 32 28.5714 CCDC116 0 genome.wustl.edu 37 22 21989345 21989345 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 21989345 21989345 C T SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known silent c.993 p.D331 0.020 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 94 0 0 74 25 25.2525 CABIN1 0 genome.wustl.edu 37 22 24560391 24560391 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 24560391 24560391 C T SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known silent c.4770 p.D1590 0.992 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 172 0 0 100 42 29.5775 SUSD2 0 genome.wustl.edu 37 22 24580158 24580158 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 24580158 24580158 G A SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known missense c.494 p.R165H 0.051 NULL pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 181 0 0 106 42 28.3784 SGSM1 0 genome.wustl.edu 37 22 25294248 25294248 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 25294248 25294248 G A SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known missense c.2497 p.V833M 0.952 superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 65 0 0 28 14 33.3333 HPS4 0 genome.wustl.edu 37 22 26862218 26862218 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 26862218 26862218 G A SNP HPS4 ENST00000398141 human ensembl 74_37 -1 known missense c.665 p.T222M 0.000 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 55 0 0 34 17 33.3333 NIPSNAP1 0 genome.wustl.edu 37 22 29956813 29956813 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 29956813 29956813 G A SNP NIPSNAP1 ENST00000216121 human ensembl 74_37 -1 known missense c.616 p.R206W 1.000 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors NIPSNAP1 HGNC ENSG00000184117 191 0 0 119 34 22.2222 SLC35E4 0 genome.wustl.edu 37 22 31042594 31042594 + Missense_Mutation SNP T T G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 31042594 31042594 T G SNP SLC35E4 ENST00000343605 human ensembl 74_37 +1 known missense c.629 p.L210R 1.000 pfam_Tpt_PEP_trans_dom,pfam_UAA pfam_Tpt_PEP_trans_dom,pfam_DMT,pfam_UAA - no_errors SLC35E4 HGNC ENSG00000100036 97 0 0 46 22 32.3529 OSBP2 0 genome.wustl.edu 37 22 31285625 31285625 + Splice_Site SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 31285625 31285625 T C SNP OSBP2 ENST00000332585 human ensembl 74_37 +1 known splice_site c.1623+2 e7+2 1.000 - - - no_errors OSBP2 HGNC ENSG00000184792 166 0 0 109 37 25.3425 NCF4 0 genome.wustl.edu 37 22 37266489 37266489 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 37266489 37266489 G T SNP NCF4 ENST00000397147 human ensembl 74_37 +1 known missense c.375 p.M125I 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox - no_errors NCF4 HGNC ENSG00000100365 87 0 0 76 5 6.17284 MICALL1 0 genome.wustl.edu 37 22 38322027 38322027 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 38322027 38322027 G A SNP MICALL1 ENST00000215957 human ensembl 74_37 +1 known missense c.1442 p.R481H 0.045 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL1 HGNC ENSG00000100139 65 0 0 19 25 56.8182 KCNJ4 0 genome.wustl.edu 37 22 38823826 38823826 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 38823826 38823826 G A SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known silent c.312 p.G104 0.066 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 61 0 0 22 23 51.1111 KCNJ4 0 genome.wustl.edu 37 22 38824116 38824116 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 38824116 38824116 C T SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known missense c.22 p.G8S 1.000 pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 398 1 0.250627 170 165 49.2537 MIEF1 0 genome.wustl.edu 37 22 39907950 39907950 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 39907950 39907950 C T SNP MIEF1 ENST00000325301 human ensembl 74_37 +1 known nonsense c.241 p.R81* 1.000 NULL NULL - no_errors MIEF1 HGNC ENSG00000100335 223 0 0 104 101 49.2683 CYP2D6 0 genome.wustl.edu 37 22 42522946 42522946 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 42522946 42522946 C T SNP CYP2D6 ENST00000360608 human ensembl 74_37 -1 known missense c.1222 p.V408I 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2D6 HGNC ENSG00000100197 15 0 0 9 3 25 CYP2D6 0 genome.wustl.edu 37 22 42523459 42523459 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 42523459 42523459 C T SNP CYP2D6 ENST00000360608 human ensembl 74_37 -1 known missense c.1163 p.R388H 0.983 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2D6 HGNC ENSG00000100197 87 0 0 75 5 6.25 CYP2D6 0 genome.wustl.edu 37 22 42526712 42526712 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 42526712 42526712 G A SNP CYP2D6 ENST00000360608 human ensembl 74_37 -1 known missense c.82 p.R28C 0.914 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2D6 HGNC ENSG00000100197 26 0 0 17 7 29.1667 TTLL1 0 genome.wustl.edu 37 22 43447858 43447858 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 43447858 43447858 G A SNP TTLL1 ENST00000266254 human ensembl 74_37 -1 known silent c.927 p.C309 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL1 HGNC ENSG00000100271 126 0 0 51 44 46.3158 KIAA0930 0 genome.wustl.edu 37 22 45601544 45601544 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 45601544 45601544 G A SNP KIAA0930 ENST00000251993 human ensembl 74_37 -1 known silent c.396 p.G132 0.010 pfam_DUF2045 pfam_DUF2045 - no_errors KIAA0930 HGNC ENSG00000100364 104 0 0 45 43 48.8636 PKDREJ 0 genome.wustl.edu 37 22 46655628 46655628 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 46655628 46655628 C T SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.3592 p.V1198M 0.000 NULL pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 175 0 0 73 71 49.3056 TTLL8 0 genome.wustl.edu 37 22 50472806 50472806 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 50472806 50472806 G A SNP TTLL8 ENST00000266182 human ensembl 74_37 -1 known missense c.1007 p.A336V 0.802 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL8 HGNC ENSG00000138892 51 0 0 27 4 12.9032 PANX2 0 genome.wustl.edu 37 22 50615416 50615416 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 50615416 50615416 C T SNP PANX2 ENST00000395842 human ensembl 74_37 +1 known missense c.275 p.A92V 1.000 pfam_Innexin,pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 23 0 0 12 15 55.5556 TRABD 0 genome.wustl.edu 37 22 50636357 50636357 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 50636357 50636357 C T SNP TRABD ENST00000303434 human ensembl 74_37 +1 known silent c.777 p.R259 0.717 pfam_Pheromone_shutdown_TraB pfam_Pheromone_shutdown_TraB - no_errors TRABD HGNC ENSG00000170638 206 0 0 79 70 46.9799 TUBGCP6 0 genome.wustl.edu 37 22 50682481 50682481 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 50682481 50682481 G A SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known silent c.408 p.N136 0.996 NULL pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 90 0 0 36 33 47.8261 HDAC10 0 genome.wustl.edu 37 22 50684142 50684142 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 50684142 50684142 G T SNP HDAC10 ENST00000216271 human ensembl 74_37 -1 known missense c.1948 p.L650M 0.031 NULL pfam_His_deacetylse_dom,prints_His_deacetylse - no_errors HDAC10 HGNC ENSG00000100429 48 0 0 37 5 11.9048 RABL2B 0 genome.wustl.edu 37 22 51214269 51214269 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 51214269 51214269 G A SNP RABL2B ENST00000354869 human ensembl 74_37 -1 known silent c.228 p.D76 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RABL2B HGNC ENSG00000079974 114 0 0 44 23 34.3284 TBC1D23 0 genome.wustl.edu 37 3 100020960 100020960 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 100020960 100020960 A G SNP TBC1D23 ENST00000394144 human ensembl 74_37 +1 known missense c.1142 p.E381G 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 60 0 0 40 10 20 NIT2 0 genome.wustl.edu 37 3 100071247 100071247 + Splice_Site SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 100071247 100071247 G A SNP NIT2 ENST00000394140 human ensembl 74_37 +1 known splice_site c.585-1 e8-1 1.000 - - - no_errors NIT2 HGNC ENSG00000114021 147 0 0 71 24 25.2632 ZBTB11 0 genome.wustl.edu 37 3 101389993 101389993 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 101389993 101389993 C A SNP ZBTB11 ENST00000312938 human ensembl 74_37 -1 known missense c.759 p.E253D 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ENSG00000066422 68 0 0 43 6 12.2449 SLC35A5 0 genome.wustl.edu 37 3 112299461 112299461 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 112299461 112299461 C T SNP SLC35A5 ENST00000492406 human ensembl 74_37 +1 known missense c.497 p.A166V 0.006 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A5 HGNC ENSG00000138459 65 0 0 47 15 24.1935 SLC35A5 0 genome.wustl.edu 37 3 112300135 112300135 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 112300135 112300135 C T SNP SLC35A5 ENST00000492406 human ensembl 74_37 +1 known nonsense c.1171 p.R391* 0.845 pirsf_UDP/CMP-sugar_transptr pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A5 HGNC ENSG00000138459 76 0 0 64 6 8.57143 FSTL1 0 genome.wustl.edu 37 3 120121742 120121742 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 120121742 120121742 A G SNP FSTL1 ENST00000295633 human ensembl 74_37 -1 known missense c.718 p.Y240H 0.734 NULL pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pfscan_EF_hand_dom - no_errors FSTL1 HGNC ENSG00000163430 148 0 0 94 28 22.9508 FBXO40 0 genome.wustl.edu 37 3 121340509 121340509 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 121340509 121340509 G A SNP FBXO40 ENST00000338040 human ensembl 74_37 +1 known missense c.233 p.R78H 1.000 superfamily_TRAF-like,pfscan_Znf_TRAF superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO40 HGNC ENSG00000163833 129 0 0 79 28 26.1682 FBXO40 0 genome.wustl.edu 37 3 121341390 121341390 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 121341390 121341390 C T SNP FBXO40 ENST00000338040 human ensembl 74_37 +1 known missense c.1114 p.P372S 1.000 NULL superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO40 HGNC ENSG00000163833 110 0 0 71 21 22.8261 KPNA1 0 genome.wustl.edu 37 3 122145775 122145775 + RNA SNP A A C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 122145775 122145775 A C SNP KPNA1 ENST00000466923 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors KPNA1 HGNC ENSG00000114030 26 0 0 17 2 10.5263 SEMA5B 0 genome.wustl.edu 37 3 122632217 122632217 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 122632217 122632217 A G SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.2497 p.W833R 0.998 NULL pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 15 0 0 12 3 20 SEMA5B 0 genome.wustl.edu 37 3 122632729 122632729 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 122632729 122632729 C T SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.2270 p.C757Y 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 132 0 0 83 25 23.1481 SEMA5B 0 genome.wustl.edu 37 3 122632812 122632812 + Silent SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 122632812 122632812 C A SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known silent c.2187 p.L729 0.985 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 114 0 0 84 9 9.67742 SEMA5B 0 genome.wustl.edu 37 3 122680142 122680142 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 122680142 122680142 C T SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.131 p.G44D 0.001 NULL pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 69 0 0 52 15 22.3881 PDIA5 0 genome.wustl.edu 37 3 122864994 122864994 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 122864994 122864994 G A SNP PDIA5 ENST00000316218 human ensembl 74_37 +1 known missense c.1030 p.A344T 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 251 0 0 155 44 22.1106 ADCY5 0 genome.wustl.edu 37 3 123021992 123021992 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 123021992 123021992 C T SNP ADCY5 ENST00000462833 human ensembl 74_37 -1 known silent c.2634 p.A878 0.075 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 73 0 0 39 19 32.7586 PLXNA1 0 genome.wustl.edu 37 3 126741039 126741039 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 126741039 126741039 C T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.4150 p.R1384C 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 52 0 0 28 13 31.7073 PLXNA1 0 genome.wustl.edu 37 3 126751418 126751418 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 126751418 126751418 C T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.5420 p.P1807L 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 101 0 0 60 30 33.3333 C3orf56 0 genome.wustl.edu 37 3 126915571 126915571 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 126915571 126915571 C T SNP C3orf56 ENST00000398112 human ensembl 74_37 +1 known missense c.43 p.R15C 0.000 NULL NULL - no_errors C3orf56 HGNC ENSG00000214324 29 0 0 30 7 18.9189 PODXL2 0 genome.wustl.edu 37 3 127390358 127390358 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 127390358 127390358 G A SNP PODXL2 ENST00000342480 human ensembl 74_37 +1 known missense c.1507 p.V503M 1.000 pfam_CD34/Podocalyxin pfam_CD34/Podocalyxin - no_errors PODXL2 HGNC ENSG00000114631 136 0 0 76 23 23.2323 EEFSEC 0 genome.wustl.edu 37 3 128126962 128126962 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 128126962 128126962 C T SNP EEFSEC ENST00000254730 human ensembl 74_37 +1 known missense c.1651 p.R551W 0.988 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EEFSEC HGNC ENSG00000132394 72 0 0 33 14 29.7872 CAND2 0 genome.wustl.edu 37 3 12856866 12856866 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 12856866 12856866 G T SNP CAND2 ENST00000456430 human ensembl 74_37 +1 known missense c.1233 p.K411N 0.049 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 94 0 0 54 16 22.8571 GP9 0 genome.wustl.edu 37 3 128780857 128780857 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 128780857 128780857 G A SNP GP9 ENST00000307395 human ensembl 74_37 +1 known missense c.275 p.S92N 0.370 smart_Cys-rich_flank_reg_C pfam_LRR-contain_N,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C - no_errors GP9 HGNC ENSG00000169704 87 0 0 45 25 35.7143 COL6A6 0 genome.wustl.edu 37 3 130287203 130287203 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 130287203 130287203 G A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.2156 p.R719Q 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 132 0 0 56 18 24.3243 MRPL3 0 genome.wustl.edu 37 3 131206557 131206557 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 131206557 131206557 C T SNP MRPL3 ENST00000264995 human ensembl 74_37 -1 known missense c.596 p.R199H 1.000 pfam_Ribosomal_L3,superfamily_Transl_B-barrel,tigrfam_Ribosomal_L3_bac/org-type pfam_Ribosomal_L3,superfamily_Transl_B-barrel,tigrfam_Ribosomal_L3_bac/org-type - no_errors MRPL3 HGNC ENSG00000114686 79 0 0 36 22 37.931 DNAJC13 0 genome.wustl.edu 37 3 132184898 132184898 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 132184898 132184898 T C SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.1952 p.L651S 1.000 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 56 0 0 27 9 25 TF 0 genome.wustl.edu 37 3 133475800 133475800 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 133475800 133475800 C T SNP TF ENST00000402696 human ensembl 74_37 +1 known nonsense c.817 p.R273* 0.998 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 156 1 0.636943 76 20 20.8333 HDAC11 0 genome.wustl.edu 37 3 13546059 13546059 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 13546059 13546059 G A SNP HDAC11 ENST00000295757 human ensembl 74_37 +1 known missense c.920 p.R307H 0.999 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,prints_His_deacetylse - no_errors HDAC11 HGNC ENSG00000163517 118 0 0 65 13 16.6667 FBLN2 0 genome.wustl.edu 37 3 13612417 13612417 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 13612417 13612417 G A SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known missense c.562 p.D188N 0.971 NULL pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 44 0 0 28 5 15.1515 U2SURP 0 genome.wustl.edu 37 3 142741774 142741774 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 142741774 142741774 G A SNP U2SURP ENST00000473835 human ensembl 74_37 +1 known silent c.1098 p.P366 0.117 NULL pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_CID_dom,pfscan_Surp,pfscan_RRM_dom - no_errors U2SURP HGNC ENSG00000163714 26 0 0 17 3 15 GRIP2 0 genome.wustl.edu 37 3 14563212 14563212 + RNA SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 14563212 14563212 C A SNP GRIP2 ENST00000273083 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GRIP2 HGNC ENSG00000144596 28 0 0 20 4 16.6667 WDR49 0 genome.wustl.edu 37 3 167319962 167319962 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 167319962 167319962 G T SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known missense c.205 p.Q69K 0.994 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 94 0 0 68 17 20 GPR160 0 genome.wustl.edu 37 3 169802628 169802628 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 169802628 169802628 A G SNP GPR160 ENST00000355897 human ensembl 74_37 +1 known missense c.868 p.T290A 0.006 pfscan_GPCR_Rhodpsn_7TM pfscan_GPCR_Rhodpsn_7TM - no_errors GPR160 HGNC ENSG00000173890 108 0 0 53 29 35.3659 TNIK 0 genome.wustl.edu 37 3 170857277 170857277 + Silent SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 170857277 170857277 A G SNP TNIK ENST00000436636 human ensembl 74_37 -1 known silent c.1401 p.H467 1.000 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 133 0 0 73 30 29.1262 PLD1 0 genome.wustl.edu 37 3 171320972 171320972 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 171320972 171320972 G A SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known missense c.3121 p.R1041C 1.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 69 0 0 38 11 22.449 SPATA16 0 genome.wustl.edu 37 3 172834946 172834946 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 172834946 172834946 G A SNP SPATA16 ENST00000351008 human ensembl 74_37 -1 known silent c.576 p.Y192 0.161 NULL NULL - no_errors SPATA16 HGNC ENSG00000144962 146 0 0 90 23 20.354 PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 77 0 0 48 12 20 HTR3E 0 genome.wustl.edu 37 3 183823105 183823105 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 183823105 183823105 G A SNP HTR3E ENST00000335304 human ensembl 74_37 +1 known missense c.655 p.A219T 0.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3E HGNC ENSG00000186038 68 0 0 37 15 28.8462 ABCF3 0 genome.wustl.edu 37 3 183905683 183905683 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 183905683 183905683 A G SNP ABCF3 ENST00000429586 human ensembl 74_37 +1 known missense c.481 p.S161G 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF3 HGNC ENSG00000161204 139 0 0 76 22 22.449 SATB1 0 genome.wustl.edu 37 3 18393520 18393520 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 18393520 18393520 C T SNP SATB1 ENST00000417717 human ensembl 74_37 -1 known silent c.1743 p.P581 0.705 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 136 0 0 86 32 27.1186 EIF4G1 0 genome.wustl.edu 37 3 184045702 184045702 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 184045702 184045702 C T SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known missense c.3886 p.R1296C 1.000 pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 127 0 0 85 36 29.7521 THPO 0 genome.wustl.edu 37 3 184093761 184093761 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 184093761 184093761 G A SNP THPO ENST00000204615 human ensembl 74_37 -1 known missense c.56 p.T19M 0.981 pfam_EPO_TPO,prints_Thrombopoeitin pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin - no_errors THPO HGNC ENSG00000090534 78 0 0 49 13 20.9677 MAP3K13 0 genome.wustl.edu 37 3 185198156 185198156 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 185198156 185198156 C T SNP MAP3K13 ENST00000265026 human ensembl 74_37 +1 known missense c.2638 p.R880C 0.995 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K13 HGNC ENSG00000073803 102 0 0 59 23 28.0488 EIF4A2 0 genome.wustl.edu 37 3 186504345 186504345 + Missense_Mutation SNP T T A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 186504345 186504345 T A SNP EIF4A2 ENST00000440191 human ensembl 74_37 +1 known missense c.685 p.F229I 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000156976 62 0 0 38 12 24 XXYLT1 0 genome.wustl.edu 37 3 194790465 194790465 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 194790465 194790465 G A SNP XXYLT1 ENST00000310380 human ensembl 74_37 -1 known silent c.1161 p.N387 1.000 NULL pfam_Glyco_trans_8 - no_errors XXYLT1 HGNC ENSG00000173950 145 0 0 71 23 24.4681 MUC4 0 genome.wustl.edu 37 3 195511156 195511156 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 195511156 195511156 C T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.7295 p.R2432H 0.142 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 19 0 0 13 3 18.75 TNK2 0 genome.wustl.edu 37 3 195593775 195593775 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 195593775 195593775 C T SNP TNK2 ENST00000381916 human ensembl 74_37 -1 known missense c.3239 p.G1080D 1.000 superfamily_UBA-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 28 0 0 26 2 7.14286 TFRC 0 genome.wustl.edu 37 3 195800860 195800860 + Silent SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 195800860 195800860 A G SNP TFRC ENST00000360110 human ensembl 74_37 -1 known silent c.375 p.D125 0.072 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFRC HGNC ENSG00000072274 57 0 0 32 14 30.4348 PIGZ 0 genome.wustl.edu 37 3 196675210 196675210 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 196675210 196675210 C T SNP PIGZ ENST00000443835 human ensembl 74_37 -1 putative missense c.248 p.R83H 0.035 NULL pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 136 0 0 59 16 21.3333 LRCH3 0 genome.wustl.edu 37 3 197553754 197553754 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 197553754 197553754 G A SNP LRCH3 ENST00000438796 human ensembl 74_37 +1 known missense c.646 p.A216T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH3 HGNC ENSG00000186001 69 0 0 56 25 30.8642 SLC4A7 0 genome.wustl.edu 37 3 27460061 27460061 + Missense_Mutation SNP T T A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 27460061 27460061 T A SNP SLC4A7 ENST00000454389 human ensembl 74_37 -1 known missense c.1575 p.E525D 0.999 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 36 0 0 28 7 20 DYNC1LI1 0 genome.wustl.edu 37 3 32574559 32574559 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 32574559 32574559 T C SNP DYNC1LI1 ENST00000273130 human ensembl 74_37 -1 known missense c.999 p.I333M 1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI1 HGNC ENSG00000144635 40 0 0 32 6 15.7895 STAC 0 genome.wustl.edu 37 3 36534721 36534721 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 36534721 36534721 G T SNP STAC ENST00000273183 human ensembl 74_37 +1 known missense c.766 p.V256L 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors STAC HGNC ENSG00000144681 93 0 0 45 20 30.7692 DCLK3 0 genome.wustl.edu 37 3 36779171 36779171 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 36779171 36779171 G A SNP DCLK3 ENST00000416516 human ensembl 74_37 -1 known missense c.980 p.T327M 0.000 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 DCLK3 HGNC ENSG00000163673 169 0 0 103 30 22.5564 TRANK1 0 genome.wustl.edu 37 3 36872364 36872364 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 36872364 36872364 C T SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.8578 p.A2860T 0.996 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 69 0 0 39 19 32.7586 PLCD1 0 genome.wustl.edu 37 3 38051523 38051523 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 38051523 38051523 G A SNP PLCD1 ENST00000463876 human ensembl 74_37 -1 known silent c.1222 p.L408 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD1 HGNC ENSG00000187091 95 0 0 63 18 22.2222 SCN10A 0 genome.wustl.edu 37 3 38781010 38781010 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 38781010 38781010 C T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.2276 p.R759H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 74 0 0 51 12 19.0476 LRRN1 0 genome.wustl.edu 37 3 3888033 3888033 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 3888033 3888033 T C SNP LRRN1 ENST00000319331 human ensembl 74_37 +1 known missense c.1708 p.Y570H 0.997 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN1 HGNC ENSG00000175928 344 1 0.289855 223 73 24.6622 TTC21A 0 genome.wustl.edu 37 3 39171645 39171645 + RNA SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 39171645 39171645 A G SNP TTC21A ENST00000466875 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors TTC21A HGNC ENSG00000168026 30 0 0 15 6 28.5714 CHL1 0 genome.wustl.edu 37 3 436506 436506 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 436506 436506 G T SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.3045 p.Q1015H 0.125 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 80 0 0 45 10 18.1818 PLXNB1 0 genome.wustl.edu 37 3 48455445 48455445 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 48455445 48455445 C A SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.4245 p.E1415D 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 99 0 0 29 17 36.9565 RBM5 0 genome.wustl.edu 37 3 50129622 50129622 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 50129622 50129622 G A SNP RBM5 ENST00000347869 human ensembl 74_37 +1 known missense c.164 p.R55Q 1.000 NULL 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 RBM5 HGNC ENSG00000003756 60 0 0 21 13 38.2353 NAT6 0 genome.wustl.edu 37 3 50334626 50334626 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 50334626 50334626 C T SNP NAT6 ENST00000354862 human ensembl 74_37 -1 known missense c.335 p.R112H 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT6 HGNC ENSG00000243477 125 0 0 49 21 30 GRM2 0 genome.wustl.edu 37 3 51743432 51743432 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 51743432 51743432 A G SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.433 p.S145G 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_GABA_rcpt_B pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 23 0 0 11 7 38.8889 RRP9 0 genome.wustl.edu 37 3 51969657 51969657 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 51969657 51969657 G A SNP RRP9 ENST00000232888 human ensembl 74_37 -1 known missense c.787 p.R263C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RRP9 HGNC ENSG00000114767 89 0 0 43 20 31.746 DNAH1 0 genome.wustl.edu 37 3 52425268 52425268 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 52425268 52425268 G A SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.9815 p.R3272H 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 41 0 0 16 10 38.4615 CACNA1D 0 genome.wustl.edu 37 3 53845218 53845218 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 53845218 53845218 G A SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.6331 p.A2111T 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 130 0 0 58 30 34.0909 CACNA2D3 0 genome.wustl.edu 37 3 54905647 54905647 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 54905647 54905647 G A SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.1708 p.V570M 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 96 0 0 76 14 15.5556 PXK 0 genome.wustl.edu 37 3 58410518 58410518 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 58410518 58410518 C A SNP PXK ENST00000356151 human ensembl 74_37 +1 known missense c.1568 p.P523Q 1.000 NULL pfam_Phox,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_dom - no_errors PXK HGNC ENSG00000168297 54 0 0 35 11 23.913 FEZF2 0 genome.wustl.edu 37 3 62358181 62358181 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 62358181 62358181 G A SNP FEZF2 ENST00000283268 human ensembl 74_37 -1 known silent c.363 p.C121 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC ENSG00000153266 11 0 0 6 4 40 CADPS 0 genome.wustl.edu 37 3 62860297 62860297 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 62860297 62860297 C T SNP CADPS ENST00000383710 human ensembl 74_37 -1 known silent c.408 p.K136 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 14 0 0 1 3 75 MAGI1 0 genome.wustl.edu 37 3 65415259 65415259 + Missense_Mutation SNP T T G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 65415259 65415259 T G SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.2103 p.Q701H 0.652 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 132 0 0 78 29 27.1028 MITF 0 genome.wustl.edu 37 3 70008489 70008489 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 70008489 70008489 G A SNP MITF ENST00000448226 human ensembl 74_37 +1 known missense c.1097 p.R366Q 1.000 superfamily_bHLH_dom,smart_bHLH_dom pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MITF HGNC ENSG00000187098 60 0 0 38 6 13.6364 THUMPD3 0 genome.wustl.edu 37 3 9426301 9426301 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 9426301 9426301 A G SNP THUMPD3 ENST00000345094 human ensembl 74_37 +1 known missense c.1453 p.T485A 0.995 NULL pfam_RNA_methylase_dom,pfam_THUMP,smart_THUMP,pfscan_THUMP - no_errors THUMPD3 HGNC ENSG00000134077 192 0 0 115 35 23.3333 FILIP1L 0 genome.wustl.edu 37 3 99568682 99568682 + Missense_Mutation SNP T T A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 99568682 99568682 T A SNP FILIP1L ENST00000354552 human ensembl 74_37 -1 known missense c.1838 p.K613I 0.987 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 106 0 0 50 21 29.5775 DKK2 0 genome.wustl.edu 37 4 107956720 107956720 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 107956720 107956720 G A SNP DKK2 ENST00000285311 human ensembl 74_37 -1 novel missense c.29 p.S10L 0.949 NULL pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd - no_errors DKK2 HGNC ENSG00000155011 187 0 0 101 35 25.7353 ALPK1 0 genome.wustl.edu 37 4 113351602 113351602 + Splice_Site SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 113351602 113351602 A G SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known splice_site c.901-2 e9-2 1.000 - - - no_errors ALPK1 HGNC ENSG00000073331 57 0 0 34 7 17.0732 ANK2 0 genome.wustl.edu 37 4 114213628 114213628 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 114213628 114213628 C T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.2334 p.N778 0.982 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 38 0 0 23 5 17.8571 SNHG8 0 genome.wustl.edu 37 4 119200510 119200510 + RNA SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 119200510 119200510 G A SNP SNHG8 ENST00000602573 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG8 HGNC ENSG00000269893 42 0 0 24 8 25 CRIPAK 0 genome.wustl.edu 37 4 1388513 1388513 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 1388513 1388513 G A SNP CRIPAK ENST00000324803 human ensembl 74_37 +1 known missense c.214 p.V72M 0.030 NULL smart_Post-SET_dom - no_errors CRIPAK HGNC ENSG00000179979 1311 0 0 961 142 12.874 NAA15 0 genome.wustl.edu 37 4 140291398 140291398 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 140291398 140291398 G A SNP NAA15 ENST00000296543 human ensembl 74_37 +1 known missense c.1787 p.R596H 1.000 pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 12 0 0 9 4 30.7692 NR3C2 0 genome.wustl.edu 37 4 149356340 149356340 + Missense_Mutation SNP T T G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 149356340 149356340 T G SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known missense c.1673 p.E558A 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 104 0 0 59 23 28.0488 FSTL5 0 genome.wustl.edu 37 4 163032485 163032485 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 163032485 163032485 G A SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.64 p.P22S 1.000 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 92 0 0 63 24 27.5862 TMEM192 0 genome.wustl.edu 37 4 166022023 166022023 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 166022023 166022023 A G SNP TMEM192 ENST00000306480 human ensembl 74_37 -1 known missense c.196 p.F66L 0.999 NULL NULL - no_errors TMEM192 HGNC ENSG00000170088 30 0 0 21 7 25 TLL1 0 genome.wustl.edu 37 4 166935620 166935620 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 166935620 166935620 G A SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.950 p.R317H 1.000 pfam_Peptidase_M12A,pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 235 0 0 134 42 23.8636 CLCN3 0 genome.wustl.edu 37 4 170613412 170613412 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 170613412 170613412 G A SNP CLCN3 ENST00000347613 human ensembl 74_37 +1 known missense c.877 p.G293R 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-3 - no_errors CLCN3 HGNC ENSG00000109572 142 0 0 78 29 27.1028 NCAPG 0 genome.wustl.edu 37 4 17835966 17835966 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 17835966 17835966 G T SNP NCAPG ENST00000251496 human ensembl 74_37 +1 known missense c.1929 p.K643N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NCAPG HGNC ENSG00000109805 30 0 0 22 7 24.1379 STOX2 0 genome.wustl.edu 37 4 184931728 184931728 + Silent SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 184931728 184931728 C A SNP STOX2 ENST00000308497 human ensembl 74_37 +1 known silent c.1737 p.P579 0.017 NULL pfam_Storkhead-box_winged-helix - no_errors STOX2 HGNC ENSG00000173320 51 0 0 36 14 28 SORBS2 0 genome.wustl.edu 37 4 186544971 186544971 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 186544971 186544971 C T SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.1600 p.V534I 0.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 107 0 0 65 22 25.2874 SLIT2 0 genome.wustl.edu 37 4 20597433 20597433 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 20597433 20597433 C T SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.3296 p.T1099M 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 160 0 0 82 34 29.3103 ZNF876P 0 genome.wustl.edu 37 4 247388 247388 + RNA SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 247388 247388 A G SNP ZNF876P ENST00000356347 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ZNF876P HGNC ENSG00000198155 43 0 0 16 7 30.4348 MFSD10 0 genome.wustl.edu 37 4 2933849 2933849 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 2933849 2933849 G A SNP MFSD10 ENST00000329687 human ensembl 74_37 -1 known missense c.725 p.A242V 0.058 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD10 HGNC ENSG00000109736 35 0 0 31 7 18.4211 RGS12 0 genome.wustl.edu 37 4 3417807 3417807 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 3417807 3417807 C T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.2386 p.R796C 0.823 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 69 0 0 36 11 23.4043 HGFAC 0 genome.wustl.edu 37 4 3444828 3444828 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 3444828 3444828 G A SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known missense c.350 p.R117H 1.000 pirsf_Coagulation_fac_XIIa/HGFA,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 33 0 0 20 11 35.4839 HGFAC 0 genome.wustl.edu 37 4 3446081 3446081 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 3446081 3446081 C T SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known silent c.642 p.G214 0.342 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 34 0 0 18 5 21.7391 RFC1 0 genome.wustl.edu 37 4 39293271 39293271 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 39293271 39293271 C A SNP RFC1 ENST00000381897 human ensembl 74_37 -1 known missense c.3159 p.K1053N 0.993 pfam_DNA_replication_fac_RFC1_C,pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 57 0 0 32 2 5.88235 ABCA11P 0 genome.wustl.edu 37 4 419621 419621 + RNA SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 419621 419621 C T SNP ABCA11P ENST00000451020 human ensembl 74_37 -1 known rna NULL NULL 0.029 - - - no_errors ABCA11P HGNC ENSG00000251595 30 0 0 17 4 19.0476 GABRA2 0 genome.wustl.edu 37 4 46263976 46263976 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 46263976 46263976 C T SNP GABRA2 ENST00000540012 human ensembl 74_37 -1 known nonsense c.861 p.W287* 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,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 106 0 0 45 19 29.6875 SPATA18 0 genome.wustl.edu 37 4 52943101 52943101 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 52943101 52943101 G A SNP SPATA18 ENST00000295213 human ensembl 74_37 +1 known silent c.915 p.R305 0.266 NULL NULL - no_errors SPATA18 HGNC ENSG00000163071 63 0 0 39 17 30.3571 EVC 0 genome.wustl.edu 37 4 5731072 5731072 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 5731072 5731072 C T SNP EVC ENST00000264956 human ensembl 74_37 +1 known silent c.339 p.F113 1.000 NULL NULL - no_errors EVC HGNC ENSG00000072840 100 0 0 58 18 23.6842 EVC 0 genome.wustl.edu 37 4 5798754 5798754 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 5798754 5798754 C T SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.1892 p.T631M 0.017 NULL NULL - no_errors EVC HGNC ENSG00000072840 79 0 0 64 14 17.9487 EVC 0 genome.wustl.edu 37 4 5798841 5798841 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 5798841 5798841 C T SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.1979 p.T660M 0.106 NULL NULL - no_errors EVC HGNC ENSG00000072840 86 0 0 51 12 19.0476 WFS1 0 genome.wustl.edu 37 4 6303072 6303072 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 6303072 6303072 G A SNP WFS1 ENST00000226760 human ensembl 74_37 +1 known missense c.1550 p.R517H 1.000 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 145 0 0 64 30 31.9149 PPP2R2C 0 genome.wustl.edu 37 4 6325199 6325199 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 6325199 6325199 G A SNP PPP2R2C ENST00000335585 human ensembl 74_37 -1 known missense c.1174 p.R392C 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2C HGNC ENSG00000074211 74 0 0 46 19 29.2308 BLOC1S4 0 genome.wustl.edu 37 4 6718567 6718567 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 6718567 6718567 T C SNP BLOC1S4 ENST00000320776 human ensembl 74_37 +1 known missense c.631 p.C211R 0.026 NULL NULL - no_errors BLOC1S4 HGNC ENSG00000186222 39 0 0 19 5 20.8333 YTHDC1 0 genome.wustl.edu 37 4 69202929 69202929 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 69202929 69202929 C T SNP YTHDC1 ENST00000344157 human ensembl 74_37 -1 known silent c.699 p.E233 0.997 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 33 0 0 19 8 29.6296 ADAMTS3 0 genome.wustl.edu 37 4 73148871 73148871 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 73148871 73148871 T C SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known silent c.3600 p.S1200 0.004 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 102 0 0 62 11 15.0685 SORCS2 0 genome.wustl.edu 37 4 7398081 7398081 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 7398081 7398081 C T SNP SORCS2 ENST00000507866 human ensembl 74_37 +1 known missense c.547 p.R183W 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 39 0 0 26 7 21.2121 BTC 0 genome.wustl.edu 37 4 75695292 75695292 + Nonsense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 75695292 75695292 C A SNP BTC ENST00000395743 human ensembl 74_37 -1 known nonsense c.139 p.G47* 0.997 NULL pfscan_EG-like_dom - no_errors BTC HGNC ENSG00000174808 99 0 0 36 18 33.3333 PARM1 0 genome.wustl.edu 37 4 75937773 75937773 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 75937773 75937773 A G SNP PARM1 ENST00000307428 human ensembl 74_37 +1 known missense c.182 p.H61R 0.000 NULL NULL - no_errors PARM1 HGNC ENSG00000169116 125 0 0 72 27 27.2727 SHROOM3 0 genome.wustl.edu 37 4 77661497 77661497 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 77661497 77661497 G A SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.2171 p.R724Q 0.308 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 156 0 0 87 46 34.5865 AFAP1 0 genome.wustl.edu 37 4 7770639 7770639 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 7770639 7770639 C T SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known missense c.2350 p.V784I 0.384 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 235 0 0 135 39 22.4138 ABLIM2 0 genome.wustl.edu 37 4 8037979 8037979 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 8037979 8037979 G A SNP ABLIM2 ENST00000447017 human ensembl 74_37 -1 known missense c.944 p.A315V 0.999 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 81 0 0 58 17 22.6667 LIN54 0 genome.wustl.edu 37 4 83849453 83849453 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 83849453 83849453 C T SNP LIN54 ENST00000340417 human ensembl 74_37 -1 known silent c.2052 p.L684 1.000 NULL pfam_CRC - no_errors LIN54 HGNC ENSG00000189308 51 0 0 25 10 28.5714 HERC5 0 genome.wustl.edu 37 4 89414248 89414248 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 89414248 89414248 C T SNP HERC5 ENST00000264350 human ensembl 74_37 +1 known missense c.2219 p.P740L 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 78 0 0 45 15 25 PDHA2 0 genome.wustl.edu 37 4 96761854 96761854 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 96761854 96761854 G A SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known missense c.553 p.D185N 0.000 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 115 0 0 38 19 33.3333 SLCO6A1 0 genome.wustl.edu 37 5 101813379 101813379 + Splice_Site SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 101813379 101813379 C T SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known splice_site c.802+1 e3+1 1.000 - - - no_errors SLCO6A1 HGNC ENSG00000205359 103 0 0 46 22 32.3529 SLC12A7 0 genome.wustl.edu 37 5 1078056 1078056 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 1078056 1078056 G A SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known silent c.1521 p.I507 0.965 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 20 0 0 17 5 22.7273 CAMK4 0 genome.wustl.edu 37 5 110819803 110819803 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 110819803 110819803 A G SNP CAMK4 ENST00000282356 human ensembl 74_37 +1 known missense c.1061 p.K354R 0.718 superfamily_Kinase-like_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 CAMK4 HGNC ENSG00000152495 138 0 0 58 24 29.2683 CTNND2 0 genome.wustl.edu 37 5 11346635 11346635 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 11346635 11346635 C T SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.1477 p.A493T 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 196 0 0 89 28 23.9316 KCNN2 0 genome.wustl.edu 37 5 113831789 113831789 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 113831789 113831789 C T SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known silent c.1650 p.H550 0.002 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 181 0 0 99 28 22.0472 LMNB1 0 genome.wustl.edu 37 5 126156669 126156669 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 126156669 126156669 C T SNP LMNB1 ENST00000261366 human ensembl 74_37 +1 known missense c.1228 p.R410C 0.997 NULL pfam_IF,pfam_Lamin_tail_dom - no_errors LMNB1 HGNC ENSG00000113368 41 0 0 21 6 22.2222 ENSG00000248245 0 genome.wustl.edu 37 5 132559843 132559843 + RNA SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 132559843 132559843 G A SNP ENSG00000248245 ENST00000502776 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTB-49A3.2 Clone_based_vega_gene ENSG00000248245 37 0 0 19 6 24 H2AFY 0 genome.wustl.edu 37 5 134724774 134724774 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 134724774 134724774 G A SNP H2AFY ENST00000511689 human ensembl 74_37 -1 known missense c.10 p.R4C 1.000 smart_Histone_H2A,pirsf_Core_histone_macro-H2A pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,prints_Histone_H2A,pfscan_Macro_dom - no_errors H2AFY HGNC ENSG00000113648 86 0 0 66 18 21.4286 LECT2 0 genome.wustl.edu 37 5 135288738 135288738 + RNA SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 135288738 135288738 T C SNP LECT2 ENST00000471827 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LECT2 HGNC ENSG00000145826 33 0 0 16 8 33.3333 SIL1 0 genome.wustl.edu 37 5 138286997 138286997 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 138286997 138286997 G A SNP SIL1 ENST00000265195 human ensembl 74_37 -1 known missense c.892 p.R298C 0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors SIL1 HGNC ENSG00000120725 13 0 0 4 2 33.3333 PSD2 0 genome.wustl.edu 37 5 139221925 139221925 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 139221925 139221925 C T SNP PSD2 ENST00000274710 human ensembl 74_37 +1 known missense c.2182 p.R728W 1.000 NULL 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 PSD2 HGNC ENSG00000146005 87 0 0 46 12 20.6897 ANKHD1 0 genome.wustl.edu 37 5 139876372 139876372 + Missense_Mutation SNP T T G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 139876372 139876372 T G SNP ANKHD1 ENST00000297183 human ensembl 74_37 +1 known missense c.2513 p.L838R 1.000 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 171 0 0 83 40 32.5203 PCDHA1 0 genome.wustl.edu 37 5 140166120 140166120 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 140166120 140166120 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.245 p.G82D 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 248 0 0 141 39 21.6667 PCDHA5 0 genome.wustl.edu 37 5 140203211 140203211 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 140203211 140203211 G A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known silent c.1851 p.A617 0.800 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 159 0 0 112 56 33.3333 PCDHA7 0 genome.wustl.edu 37 5 140214306 140214306 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 140214306 140214306 C T SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.338 p.P113L 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 474 0 0 259 69 21.0366 PCDHA9 0 genome.wustl.edu 37 5 140229805 140229805 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 140229805 140229805 C T SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.1725 p.G575 0.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 209 0 0 131 50 27.6243 PCDHA10 0 genome.wustl.edu 37 5 140237004 140237004 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 140237004 140237004 C T SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known silent c.1371 p.S457 0.009 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 316 0 0 159 58 26.7281 PCDHA13 0 genome.wustl.edu 37 5 140262153 140262153 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 140262153 140262153 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.300 p.A100 0.002 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 416 0 0 238 73 23.4727 PCDHA13 0 genome.wustl.edu 37 5 140263878 140263878 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 140263878 140263878 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.2025 p.A675 0.000 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 148 0 0 98 32 24.6154 PCDHB2 0 genome.wustl.edu 37 5 140476283 140476283 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 140476283 140476283 G A SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.1909 p.A637T 0.651 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 193 0 0 130 38 22.619 PCDHB5 0 genome.wustl.edu 37 5 140517042 140517042 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 140517042 140517042 G A SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known missense c.2026 p.A676T 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 290 0 0 161 58 26.484 ENSG00000255622 0 genome.wustl.edu 37 5 140536883 140536883 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 140536883 140536883 A G SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known missense c.1307 p.Y436C 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB17 Uniprot_gn ENSG00000255622 256 0 0 137 36 20.8092 PCDHB14 0 genome.wustl.edu 37 5 140604549 140604549 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 140604549 140604549 T C SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.1472 p.L491P 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 406 0 0 262 74 22.0238 TAF7 0 genome.wustl.edu 37 5 140698650 140698650 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 140698650 140698650 A G SNP TAF7 ENST00000313368 human ensembl 74_37 -1 known missense c.962 p.V321A 1.000 NULL pfam_TAFII55_prot_cons_reg - no_errors TAF7 HGNC ENSG00000178913 29 0 0 15 5 25 PCDHGA2 0 genome.wustl.edu 37 5 140720821 140720821 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 140720821 140720821 G A SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known silent c.2283 p.A761 0.009 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 216 0 0 144 33 18.6441 PCDHGB3 0 genome.wustl.edu 37 5 140750742 140750742 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 140750742 140750742 G A SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.781 p.V261I 0.074 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 127 0 0 74 34 31.4815 PCDHGA8 0 genome.wustl.edu 37 5 140773876 140773876 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 140773876 140773876 C T SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.1496 p.A499V 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 82 0 0 52 15 22.3881 PCDHGA9 0 genome.wustl.edu 37 5 140783008 140783008 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 140783008 140783008 C T SNP PCDHGA9 ENST00000573521 human ensembl 74_37 +1 known silent c.489 p.G163 0.034 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 161 0 0 114 24 17.3913 PCDHGA12 0 genome.wustl.edu 37 5 140811073 140811073 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 140811073 140811073 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known silent c.747 p.A249 0.003 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 163 0 0 100 29 22.4806 PCDHGC5 0 genome.wustl.edu 37 5 140868902 140868902 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 140868902 140868902 G A SNP PCDHGC5 ENST00000252087 human ensembl 74_37 +1 known missense c.95 p.R32H 0.967 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 77 0 0 43 19 30.6452 FCHSD1 0 genome.wustl.edu 37 5 141018999 141018999 + RNA SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 141018999 141018999 T C SNP FCHSD1 ENST00000523856 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FCHSD1 HGNC ENSG00000197948 57 0 0 27 8 22.8571 ARAP3 0 genome.wustl.edu 37 5 141051513 141051513 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 141051513 141051513 C A SNP ARAP3 ENST00000239440 human ensembl 74_37 -1 known missense c.1620 p.K540N 0.998 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 182 0 0 113 41 26.6234 KCTD16 0 genome.wustl.edu 37 5 143853300 143853300 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 143853300 143853300 G A SNP KCTD16 ENST00000507359 human ensembl 74_37 +1 known missense c.910 p.G304S 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC ENSG00000183775 123 1 0.806452 81 23 22.1154 TCERG1 0 genome.wustl.edu 37 5 145838668 145838668 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 145838668 145838668 G A SNP TCERG1 ENST00000296702 human ensembl 74_37 +1 known silent c.660 p.Q220 0.997 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 34 0 0 27 6 18.1818 JAKMIP2 0 genome.wustl.edu 37 5 146997527 146997527 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 146997527 146997527 A G SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known missense c.2293 p.Y765H 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 59 0 0 27 13 32.5 ABLIM3 0 genome.wustl.edu 37 5 148563152 148563152 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 148563152 148563152 G T SNP ABLIM3 ENST00000309868 human ensembl 74_37 +1 known missense c.151 p.V51L 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM3 HGNC ENSG00000173210 38 0 0 18 5 21.7391 SLC6A7 0 genome.wustl.edu 37 5 149581992 149581992 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 149581992 149581992 C T SNP SLC6A7 ENST00000230671 human ensembl 74_37 +1 known missense c.941 p.T314M 0.996 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC ENSG00000011083 173 0 0 77 37 32.4561 TNIP1 0 genome.wustl.edu 37 5 150422141 150422141 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 150422141 150422141 C T SNP TNIP1 ENST00000315050 human ensembl 74_37 -1 known missense c.1094 p.R365H 1.000 NULL superfamily_ARM-type_fold - no_errors TNIP1 HGNC ENSG00000145901 76 0 0 39 16 29.0909 SLC36A3 0 genome.wustl.edu 37 5 150660654 150660654 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 150660654 150660654 C T SNP SLC36A3 ENST00000377713 human ensembl 74_37 -1 known silent c.1188 p.P396 0.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A3 HGNC ENSG00000186334 123 0 0 67 27 28.7234 RNF145 0 genome.wustl.edu 37 5 158630643 158630643 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 158630643 158630643 T C SNP RNF145 ENST00000518802 human ensembl 74_37 -1 known missense c.73 p.K25E 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 63 0 0 35 5 12.5 FBXL7 0 genome.wustl.edu 37 5 15936592 15936592 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 15936592 15936592 G A SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.773 p.R258Q 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 56 0 0 50 10 16.6667 MYO10 0 genome.wustl.edu 37 5 16694613 16694613 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 16694613 16694613 C T SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.3667 p.G1223R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 173 0 0 106 37 25.8741 MYO10 0 genome.wustl.edu 37 5 16701205 16701205 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 16701205 16701205 G T SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.3299 p.A1100D 0.332 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 18 0 0 6 4 40 B4GALT7 0 genome.wustl.edu 37 5 177035954 177035954 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 177035954 177035954 G A SNP B4GALT7 ENST00000029410 human ensembl 74_37 +1 known missense c.767 p.R256H 0.997 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT7 HGNC ENSG00000027847 126 0 0 61 25 29.0698 LOC202181 0 genome.wustl.edu 37 5 177053490 177053490 + RNA SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 177053490 177053490 C T SNP LOC202181 ENST00000499314 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-1277A3.2 Clone_based_vega_gene ENSG00000246596 50 0 0 35 6 14.6341 HNRNPAB 0 genome.wustl.edu 37 5 177637616 177637616 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 177637616 177637616 C T SNP HNRNPAB ENST00000358344 human ensembl 74_37 +1 known missense c.991 p.P331S 1.000 NULL pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPAB HGNC ENSG00000197451 81 0 0 48 15 23.8095 PHYKPL 0 genome.wustl.edu 37 5 177638920 177638920 + RNA SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 177638920 177638920 G A SNP PHYKPL ENST00000481811 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PHYKPL HGNC ENSG00000175309 54 0 0 34 7 17.0732 AACSP1 0 genome.wustl.edu 37 5 178199576 178199576 + RNA SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 178199576 178199576 C T SNP AACSP1 ENST00000503486 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AACSP1 HGNC ENSG00000250420 31 0 0 18 7 28 GRM6 0 genome.wustl.edu 37 5 178413488 178413488 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 178413488 178413488 C T SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known silent c.1767 p.P589 0.999 pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 55 0 0 33 21 38.8889 FLT4 0 genome.wustl.edu 37 5 180050992 180050992 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 180050992 180050992 G A SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known silent c.1491 p.A497 0.356 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 123 0 0 97 6 5.82524 AGXT2 0 genome.wustl.edu 37 5 34998924 34998924 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 34998924 34998924 C T SNP AGXT2 ENST00000231420 human ensembl 74_37 -1 known missense c.1445 p.R482H 1.000 superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT2 HGNC ENSG00000113492 53 0 0 32 8 20 SPEF2 0 genome.wustl.edu 37 5 35753739 35753739 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 35753739 35753739 G A SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.3344 p.R1115H 1.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 207 0 0 113 45 28.481 CAPSL 0 genome.wustl.edu 37 5 35921187 35921187 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 35921187 35921187 C T SNP CAPSL ENST00000397366 human ensembl 74_37 -1 known silent c.36 p.A12 0.433 NULL pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom - no_errors CAPSL HGNC ENSG00000152611 100 0 0 60 19 24.0506 NIPBL 0 genome.wustl.edu 37 5 37064121 37064121 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 37064121 37064121 C T SNP NIPBL ENST00000448238 human ensembl 74_37 +1 known missense c.8090 p.T2697M 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 31 0 0 12 6 33.3333 OSMR 0 genome.wustl.edu 37 5 38869209 38869209 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 38869209 38869209 C T SNP OSMR ENST00000274276 human ensembl 74_37 +1 known silent c.63 p.Y21 0.004 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC ENSG00000145623 118 0 0 65 22 25.2874 PTGER4 0 genome.wustl.edu 37 5 40681484 40681484 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 40681484 40681484 A G SNP PTGER4 ENST00000302472 human ensembl 74_37 +1 known missense c.389 p.Y130C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 306 0 0 169 62 26.8398 C5orf28 0 genome.wustl.edu 37 5 43446519 43446519 + Silent SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 43446519 43446519 G T SNP C5orf28 ENST00000397080 human ensembl 74_37 -1 known silent c.453 p.S151 1.000 NULL NULL - no_errors C5orf28 HGNC ENSG00000151881 113 0 0 61 26 29.8851 ITGA1 0 genome.wustl.edu 37 5 52204835 52204835 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 52204835 52204835 G T SNP ITGA1 ENST00000282588 human ensembl 74_37 +1 known missense c.1563 p.E521D 0.361 smart_Int_alpha_beta-p 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 76 0 0 42 22 34.375 SNX18 0 genome.wustl.edu 37 5 53815068 53815068 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 53815068 53815068 A G SNP SNX18 ENST00000326277 human ensembl 74_37 +1 known missense c.1286 p.D429G 1.000 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX18 HGNC ENSG00000178996 95 0 0 58 18 23.6842 DHX29 0 genome.wustl.edu 37 5 54579211 54579211 + Silent SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 54579211 54579211 A G SNP DHX29 ENST00000251636 human ensembl 74_37 -1 known silent c.1785 p.G595 0.993 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 112 0 0 87 15 14.7059 DHX29 0 genome.wustl.edu 37 5 54579256 54579256 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 54579256 54579256 T C SNP DHX29 ENST00000251636 human ensembl 74_37 -1 known silent c.1740 p.S580 0.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 197 0 0 117 25 17.6056 IL31RA 0 genome.wustl.edu 37 5 55212718 55212718 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 55212718 55212718 C A SNP IL31RA ENST00000447346 human ensembl 74_37 +1 known missense c.2065 p.L689I 0.000 NULL pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL31RA HGNC ENSG00000164509 100 0 0 58 16 21.6216 ARHGEF28 0 genome.wustl.edu 37 5 73169027 73169027 + Silent SNP A A C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 73169027 73169027 A C SNP ARHGEF28 ENST00000545377 human ensembl 74_37 +1 known silent c.2770 p.R924 0.721 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 18 0 0 10 6 37.5 HEXB 0 genome.wustl.edu 37 5 74011418 74011418 + Missense_Mutation SNP A A T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 74011418 74011418 A T SNP HEXB ENST00000261416 human ensembl 74_37 +1 known missense c.985 p.T329S 1.000 pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub - no_errors HEXB HGNC ENSG00000049860 97 0 0 60 14 18.9189 AP3B1 0 genome.wustl.edu 37 5 77523225 77523225 + Silent SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 77523225 77523225 A G SNP AP3B1 ENST00000255194 human ensembl 74_37 -1 known silent c.507 p.N169 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 66 0 0 26 13 33.3333 THBS4 0 genome.wustl.edu 37 5 79368182 79368182 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 79368182 79368182 C T SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known missense c.1802 p.A601V 1.000 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 516 0 0 291 97 25 RASA1 0 genome.wustl.edu 37 5 86668008 86668008 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 86668008 86668008 G A SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known missense c.1772 p.R591H 1.000 NULL pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 54 0 0 15 5 25 DDO 0 genome.wustl.edu 37 6 110714129 110714129 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 110714129 110714129 G A SNP DDO ENST00000368924 human ensembl 74_37 -1 known missense c.959 p.A320V 0.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DDO HGNC ENSG00000203797 172 0 0 94 33 25.9843 NEDD9 0 genome.wustl.edu 37 6 11192590 11192590 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 11192590 11192590 C T SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known silent c.651 p.P217 0.943 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 65 0 0 10 4 28.5714 LAMA4 0 genome.wustl.edu 37 6 112441524 112441524 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 112441524 112441524 T C SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.4627 p.R1543G 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 69 0 0 33 13 28.2609 STL 0 genome.wustl.edu 37 6 125269199 125269199 + RNA SNP G G C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 125269199 125269199 G C SNP STL ENST00000439075 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-510H23.1 Clone_based_vega_gene ENSG00000236548 47 0 0 29 9 23.6842 RNF217 0 genome.wustl.edu 37 6 125283970 125283970 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 125283970 125283970 G A SNP RNF217 ENST00000521654 human ensembl 74_37 +1 novel missense c.280 p.G94R 0.756 NULL pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC ENSG00000146373 69 0 0 43 13 23.2143 RNF217 0 genome.wustl.edu 37 6 125284152 125284152 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 125284152 125284152 C T SNP RNF217 ENST00000521654 human ensembl 74_37 +1 novel silent c.462 p.R154 0.991 NULL pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC ENSG00000146373 33 0 0 22 8 26.6667 TPD52L1 0 genome.wustl.edu 37 6 125541259 125541259 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 125541259 125541259 G A SNP TPD52L1 ENST00000534000 human ensembl 74_37 +1 known missense c.55 p.E19K 1.000 pfam_TPD52 pfam_TPD52 - no_errors TPD52L1 HGNC ENSG00000111907 94 0 0 58 17 22.6667 SOGA3 0 genome.wustl.edu 37 6 127796643 127796643 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 127796643 127796643 G A SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.2528 p.A843V 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 243 0 0 155 47 23.2673 MOXD1 0 genome.wustl.edu 37 6 132619024 132619024 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 132619024 132619024 A G SNP MOXD1 ENST00000367963 human ensembl 74_37 -1 known missense c.1579 p.F527L 1.000 NULL pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors MOXD1 HGNC ENSG00000079931 70 0 0 30 6 16.6667 ALDH8A1 0 genome.wustl.edu 37 6 135239813 135239813 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 135239813 135239813 A G SNP ALDH8A1 ENST00000265605 human ensembl 74_37 -1 known missense c.1204 p.F402L 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH8A1 HGNC ENSG00000118514 123 0 0 61 23 27.381 AHI1 0 genome.wustl.edu 37 6 135639703 135639703 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 135639703 135639703 C A SNP AHI1 ENST00000265602 human ensembl 74_37 -1 known missense c.3380 p.S1127I 0.132 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 13 0 0 10 3 23.0769 PDE7B 0 genome.wustl.edu 37 6 136502384 136502384 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 136502384 136502384 A G SNP PDE7B ENST00000308191 human ensembl 74_37 +1 known missense c.968 p.D323G 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7B HGNC ENSG00000171408 142 0 0 79 23 22.549 STX11 0 genome.wustl.edu 37 6 144508016 144508016 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 144508016 144508016 C T SNP STX11 ENST00000367568 human ensembl 74_37 +1 known silent c.252 p.R84 0.193 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC ENSG00000135604 71 0 0 58 8 12.1212 UTRN 0 genome.wustl.edu 37 6 144801014 144801014 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 144801014 144801014 G A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.3403 p.A1135T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 150 0 0 78 30 27.7778 AKAP12 0 genome.wustl.edu 37 6 151671353 151671353 + Silent SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 151671353 151671353 C A SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known silent c.1827 p.P609 1.000 pfam_Pkinase-A_anch_WSK-motif pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 61 0 0 28 8 22.2222 AKAP12 0 genome.wustl.edu 37 6 151674283 151674283 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 151674283 151674283 A G SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known missense c.4757 p.D1586G 0.083 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 85 0 0 52 23 30.6667 ZBTB2 0 genome.wustl.edu 37 6 151687735 151687735 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 151687735 151687735 C T SNP ZBTB2 ENST00000325144 human ensembl 74_37 -1 known missense c.466 p.G156R 0.003 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB2 HGNC ENSG00000181472 118 0 0 64 25 28.0899 SCAF8 0 genome.wustl.edu 37 6 155154243 155154243 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 155154243 155154243 G A SNP SCAF8 ENST00000367186 human ensembl 74_37 +1 known missense c.3728 p.R1243H 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 89 0 0 61 13 17.5676 NOX3 0 genome.wustl.edu 37 6 155718034 155718034 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 155718034 155718034 C T SNP NOX3 ENST00000159060 human ensembl 74_37 -1 known missense c.1643 p.C548Y 0.998 pfam_Fe_red_NAD-bd_6 pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 134 0 0 61 22 26.506 ARID1B 0 genome.wustl.edu 37 6 157522085 157522085 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 157522085 157522085 C T SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known nonsense c.4477 p.Q1493* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 72 0 0 39 12 23.5294 SYNJ2 0 genome.wustl.edu 37 6 158454638 158454638 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 158454638 158454638 C T SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known missense c.637 p.R213C 1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 106 1 0.934579 57 32 35.9551 TULP4 0 genome.wustl.edu 37 6 158735164 158735164 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 158735164 158735164 G A SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known missense c.116 p.R39H 0.997 superfamily_WD40_repeat_dom pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 63 0 0 33 4 10.8108 PNLDC1 0 genome.wustl.edu 37 6 160227061 160227061 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 160227061 160227061 C T SNP PNLDC1 ENST00000610273 human ensembl 74_37 +1 known missense c.475 p.R159W 0.555 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC ENSG00000146453 123 0 0 68 32 32 GMPR 0 genome.wustl.edu 37 6 16295240 16295240 + Silent SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 16295240 16295240 C A SNP GMPR ENST00000259727 human ensembl 74_37 +1 known silent c.861 p.A287 0.895 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 - no_errors GMPR HGNC ENSG00000137198 71 0 0 33 18 35.2941 C6orf118 0 genome.wustl.edu 37 6 165713956 165713956 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 165713956 165713956 G A SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.773 p.T258M 0.000 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 302 0 0 138 52 27.3684 PDE10A 0 genome.wustl.edu 37 6 165895803 165895803 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 165895803 165895803 C T SNP PDE10A ENST00000539869 human ensembl 74_37 -1 known silent c.225 p.R75 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 134 0 0 77 14 15.3846 THBS2 0 genome.wustl.edu 37 6 169637303 169637303 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 169637303 169637303 C T SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known missense c.1439 p.G480D 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 49 0 0 36 14 28 DEK 0 genome.wustl.edu 37 6 18237647 18237647 + Missense_Mutation SNP C C G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 18237647 18237647 C G SNP DEK ENST00000397239 human ensembl 74_37 -1 known missense c.863 p.S288T 1.000 NULL pfam_DEK_C,pfam_SAP_dom,smart_SAP_dom - no_errors DEK HGNC ENSG00000124795 48 0 0 28 9 24.3243 FAM65B 0 genome.wustl.edu 37 6 24848384 24848384 + Splice_Site SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 24848384 24848384 T C SNP FAM65B ENST00000259698 human ensembl 74_37 -1 known splice_site c.948-2 e11-2 1.000 - - - no_errors FAM65B HGNC ENSG00000111913 41 0 0 18 6 25 LRRC16A 0 genome.wustl.edu 37 6 25529041 25529041 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 25529041 25529041 C T SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel nonsense c.1987 p.R663* 0.985 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 27 0 0 12 2 14.2857 HIST1H4F 0 genome.wustl.edu 37 6 26240759 26240759 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 26240759 26240759 C T SNP HIST1H4F ENST00000377745 human ensembl 74_37 +1 known missense c.106 p.R36C 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4F HGNC ENSG00000198327 69 0 0 45 16 26.2295 HIST1H4I 0 genome.wustl.edu 37 6 27107164 27107164 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 27107164 27107164 A G SNP HIST1H4I ENST00000354348 human ensembl 74_37 +1 known missense c.77 p.N26S 1.000 superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4I HGNC ENSG00000198339 118 0 0 71 21 22.8261 OR2J2 0 genome.wustl.edu 37 6 29141560 29141560 + Missense_Mutation SNP T T A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 29141560 29141560 T A SNP OR2J2 ENST00000377167 human ensembl 74_37 +1 known missense c.148 p.S50T 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2J2 HGNC ENSG00000204700 182 0 0 117 42 26.4151 HLA-F 0 genome.wustl.edu 37 6 29692921 29692921 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 29692921 29692921 G T SNP HLA-F ENST00000259951 human ensembl 74_37 +1 known missense c.724 p.G242W 0.675 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-F HGNC ENSG00000204642 114 0 0 61 22 26.506 PRRC2A 0 genome.wustl.edu 37 6 31594894 31594894 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 31594894 31594894 G A SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known silent c.1209 p.P403 0.624 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 76 0 0 67 16 19.2771 VWA7 0 genome.wustl.edu 37 6 31740843 31740843 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 31740843 31740843 G A SNP VWA7 ENST00000375686 human ensembl 74_37 -1 known silent c.975 p.S325 0.997 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 44 0 0 11 7 38.8889 CYP21A2 0 genome.wustl.edu 37 6 32008306 32008306 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 32008306 32008306 C T SNP CYP21A2 ENST00000418967 human ensembl 74_37 +1 known missense c.1063 p.R355C 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP21A2 HGNC ENSG00000231852 95 0 0 50 9 15.2542 TNXB 0 genome.wustl.edu 37 6 32011636 32011636 + Missense_Mutation SNP G G C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 32011636 32011636 G C SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.11414 p.A3805G 0.008 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 318 0 0 195 56 22.3108 TNXB 0 genome.wustl.edu 37 6 32052427 32052427 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 32052427 32052427 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.3208 p.V1070M 0.027 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 24 0 0 20 6 23.0769 PPT2 0 genome.wustl.edu 37 6 32123549 32123549 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 32123549 32123549 G A SNP PPT2 ENST00000361568 human ensembl 74_37 +1 known missense c.440 p.G147E 1.000 pfam_Palm_thioest pfam_Palm_thioest,prints_Palm_thioest - no_errors PPT2 HGNC ENSG00000221988 103 0 0 58 15 20.5479 TUBB2B 0 genome.wustl.edu 37 6 3225887 3225887 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 3225887 3225887 C T SNP TUBB2B ENST00000259818 human ensembl 74_37 -1 known missense c.436 p.G146R 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2B HGNC ENSG00000137285 35 0 0 9 5 35.7143 BRD2 0 genome.wustl.edu 37 6 32945631 32945631 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 32945631 32945631 C T SNP BRD2 ENST00000395289 human ensembl 74_37 +1 known missense c.1427 p.S476L 0.997 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 123 0 0 74 16 17.7778 COL11A2 0 genome.wustl.edu 37 6 33135270 33135270 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 33135270 33135270 G A SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.4055 p.P1352L 0.994 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 64 0 0 34 17 33.3333 RING1 0 genome.wustl.edu 37 6 33179100 33179100 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 33179100 33179100 C T SNP RING1 ENST00000374656 human ensembl 74_37 +1 known silent c.621 p.G207 0.304 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RING1 HGNC ENSG00000204227 33 0 0 23 15 39.4737 DAXX 0 genome.wustl.edu 37 6 33288840 33288840 + Nonsense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 33288840 33288840 G A SNP DAXX ENST00000266000 human ensembl 74_37 -1 known nonsense c.712 p.R238* 0.999 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC ENSG00000204209 89 0 0 67 24 26.3736 ITPR3 0 genome.wustl.edu 37 6 33655066 33655066 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 33655066 33655066 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.6139 p.R2047C 0.979 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 62 0 0 46 13 22.0339 KCTD20 0 genome.wustl.edu 37 6 36454701 36454701 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 36454701 36454701 G T SNP KCTD20 ENST00000373731 human ensembl 74_37 +1 known missense c.1009 p.G337C 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD20 HGNC ENSG00000112078 187 0 0 94 31 24.8 PRICKLE4 0 genome.wustl.edu 37 6 41754676 41754676 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 41754676 41754676 G T SNP PRICKLE4 ENST00000335515 human ensembl 74_37 +1 known missense c.964 p.G322W 0.000 NULL pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE4 HGNC ENSG00000124593 205 0 0 97 43 30.7143 CUL7 0 genome.wustl.edu 37 6 43008318 43008318 + Nonsense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 43008318 43008318 G A SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known nonsense c.4225 p.Q1409* 1.000 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 232 0 0 150 40 21.0526 TTBK1 0 genome.wustl.edu 37 6 43230989 43230989 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 43230989 43230989 G A SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known silent c.1887 p.T629 0.027 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 TTBK1 HGNC ENSG00000146216 17 0 0 5 7 58.3333 DLK2 0 genome.wustl.edu 37 6 43418437 43418437 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 43418437 43418437 G T SNP DLK2 ENST00000357338 human ensembl 74_37 -1 known missense c.992 p.A331D 0.999 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLK2 HGNC ENSG00000171462 117 0 0 90 21 18.9189 AARS2 0 genome.wustl.edu 37 6 44275091 44275091 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 44275091 44275091 G A SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known missense c.935 p.A312V 0.977 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 31 0 0 13 6 31.5789 CDYL 0 genome.wustl.edu 37 6 4892607 4892607 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 4892607 4892607 G A SNP CDYL ENST00000328908 human ensembl 74_37 +1 known missense c.847 p.G283R 0.971 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 134 0 0 74 27 26.7327 PKHD1 0 genome.wustl.edu 37 6 51491808 51491808 + Silent SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 51491808 51491808 A G SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.11772 p.T3924 0.000 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 165 0 0 91 20 18.018 ICK 0 genome.wustl.edu 37 6 52871165 52871165 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 52871165 52871165 G A SNP ICK ENST00000350082 human ensembl 74_37 -1 known silent c.1692 p.I564 0.000 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 ICK HGNC ENSG00000112144 115 0 0 45 23 33.8235 DST 0 genome.wustl.edu 37 6 56483994 56483994 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 56483994 56483994 G A SNP DST ENST00000370765 human ensembl 74_37 -1 known missense c.4838 p.A1613V 0.000 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 165 0 0 87 25 22.3214 BAI3 0 genome.wustl.edu 37 6 69666664 69666664 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 69666664 69666664 C T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known silent c.1488 p.G496 0.192 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt 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 114 0 0 77 20 20.6186 OGFRL1 0 genome.wustl.edu 37 6 72003316 72003316 + Splice_Site SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 72003316 72003316 T C SNP OGFRL1 ENST00000370435 human ensembl 74_37 +1 known splice_site c.400+2 e3+2 1.000 - - - no_errors OGFRL1 HGNC ENSG00000119900 41 0 0 25 6 19.3548 RREB1 0 genome.wustl.edu 37 6 7231151 7231151 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 7231151 7231151 C T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.2819 p.P940L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 38 0 0 26 6 18.75 RREB1 0 genome.wustl.edu 37 6 7231823 7231823 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 7231823 7231823 G A SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.3491 p.R1164H 0.063 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 43 0 0 24 10 29.4118 RREB1 0 genome.wustl.edu 37 6 7246910 7246910 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 7246910 7246910 C T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known silent c.4227 p.D1409 0.630 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 18 0 0 7 5 41.6667 KHDC1 0 genome.wustl.edu 37 6 73951401 73951401 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 73951401 73951401 G T SNP KHDC1 ENST00000257765 human ensembl 74_37 -1 known missense c.346 p.L116M 0.014 NULL NULL - no_errors KHDC1 HGNC ENSG00000135314 131 0 0 73 29 28.4314 DSP 0 genome.wustl.edu 37 6 7585548 7585548 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 7585548 7585548 G A SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.8053 p.A2685T 1.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 306 0 0 183 66 26.506 PRSS35 0 genome.wustl.edu 37 6 84233911 84233911 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 84233911 84233911 T C SNP PRSS35 ENST00000369700 human ensembl 74_37 +1 known missense c.751 p.W251R 1.000 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors PRSS35 HGNC ENSG00000146250 81 0 0 54 12 18.1818 CYB5R4 0 genome.wustl.edu 37 6 84573933 84573933 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 84573933 84573933 C T SNP CYB5R4 ENST00000369681 human ensembl 74_37 +1 known nonsense c.115 p.R39* 1.000 NULL pfam_Cyt_B5-like_heme/steroid-bd,pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,pfam_CS_dom,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_Riboflavin_synthase-like_b-brl,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Cyt_B5-like_heme/steroid-bd,prints_NADH-Cyt_B5_reductase,prints_Cyt_B5-like_heme/steroid-bd - no_errors CYB5R4 HGNC ENSG00000065615 66 0 0 31 7 18.4211 ZNF292 0 genome.wustl.edu 37 6 87967491 87967491 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 87967491 87967491 A G SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.4144 p.R1382G 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 56 0 0 33 13 28.2609 C6orf165 0 genome.wustl.edu 37 6 88144752 88144752 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 88144752 88144752 C T SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known missense c.1475 p.T492I 0.694 pfam_DUF3508 pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 97 0 0 39 12 23.5294 MDN1 0 genome.wustl.edu 37 6 90364002 90364002 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 90364002 90364002 T C SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.15542 p.Q5181R 0.496 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 298 1 0.334448 198 60 23.2558 BACH2 0 genome.wustl.edu 37 6 90660903 90660903 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 90660903 90660903 C T SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known missense c.922 p.E308K 1.000 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 56 0 0 45 11 19.6429 EPO 0 genome.wustl.edu 37 7 100320333 100320333 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 100320333 100320333 C T SNP EPO ENST00000252723 human ensembl 74_37 +1 known missense c.293 p.S98L 0.991 pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,pirsf_Erythroptn,prints_Erythroptn pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,pirsf_Erythroptn,prints_Erythroptn - no_errors EPO HGNC ENSG00000130427 84 0 0 80 15 15.7895 SLC12A9 0 genome.wustl.edu 37 7 100459533 100459533 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 100459533 100459533 G A SNP SLC12A9 ENST00000354161 human ensembl 74_37 +1 known missense c.1711 p.D571N 0.999 NULL pfam_AA-permease/SLC12A_dom - no_errors SLC12A9 HGNC ENSG00000146828 58 0 0 42 7 14.2857 PLOD3 0 genome.wustl.edu 37 7 100859470 100859470 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 100859470 100859470 G A SNP PLOD3 ENST00000223127 human ensembl 74_37 -1 known missense c.476 p.T159M 0.050 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 85 0 0 75 19 20.2128 CUX1 0 genome.wustl.edu 37 7 101916762 101916762 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 101916762 101916762 G A SNP CUX1 ENST00000292538 human ensembl 74_37 +1 known missense c.1381 p.E461K 1.000 pfam_CASP_C pfam_CASP_C,superfamily_LemA-like_dom - no_errors CUX1 HGNC ENSG00000257923 51 0 0 35 6 14.6341 SLC26A5 0 genome.wustl.edu 37 7 103017303 103017303 + Nonsense_Mutation SNP T T A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 103017303 103017303 T A SNP SLC26A5 ENST00000306312 human ensembl 74_37 -1 known nonsense c.1993 p.K665* 1.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A5 HGNC ENSG00000170615 66 0 0 49 13 20.9677 KMT2E 0 genome.wustl.edu 37 7 104703837 104703837 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 104703837 104703837 G A SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.226 p.A76T 1.000 superfamily_Znf_FYVE_PHD pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 103 0 0 57 33 36.6667 PIK3CG 0 genome.wustl.edu 37 7 106508513 106508513 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 106508513 106508513 C T SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known silent c.507 p.H169 0.970 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 73 0 0 45 30 40 CBLL1 0 genome.wustl.edu 37 7 107398609 107398609 + Silent SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 107398609 107398609 A G SNP CBLL1 ENST00000440859 human ensembl 74_37 +1 known silent c.462 p.R154 1.000 NULL pfscan_Znf_RING - no_errors CBLL1 HGNC ENSG00000105879 65 0 0 62 16 20.5128 LRRN3 0 genome.wustl.edu 37 7 110763694 110763694 + Nonsense_Mutation SNP T T A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 110763694 110763694 T A SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known nonsense c.866 p.L289* 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 102 0 0 76 16 17.3913 KCND2 0 genome.wustl.edu 37 7 119915484 119915484 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 119915484 119915484 C T SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known silent c.798 p.D266 0.945 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 78 0 0 54 19 26.0274 CPED1 0 genome.wustl.edu 37 7 120740134 120740134 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 120740134 120740134 C T SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known missense c.904 p.R302C 1.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 52 0 0 24 10 29.4118 TAS2R16 0 genome.wustl.edu 37 7 122635358 122635358 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 122635358 122635358 T C SNP TAS2R16 ENST00000249284 human ensembl 74_37 -1 known missense c.331 p.T111A 0.102 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC ENSG00000128519 48 0 0 27 26 49.0566 GRM8 0 genome.wustl.edu 37 7 126173401 126173401 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 126173401 126173401 G T SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.2035 p.Q679K 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 105 0 0 55 18 24.6575 GCC1 0 genome.wustl.edu 37 7 127222666 127222666 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 127222666 127222666 C T SNP GCC1 ENST00000321407 human ensembl 74_37 -1 known missense c.1730 p.R577H 0.975 NULL pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 93 0 0 78 26 25 SND1 0 genome.wustl.edu 37 7 127361422 127361422 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 127361422 127361422 C T SNP SND1 ENST00000354725 human ensembl 74_37 +1 known nonsense c.1120 p.R374* 1.000 pfam_Staphylococal_nuclease_OB-fold,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococal_nuclease_OB-fold pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 109 0 0 82 6 6.81818 SMO 0 genome.wustl.edu 37 7 128850945 128850945 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 128850945 128850945 G T SNP SMO ENST00000249373 human ensembl 74_37 +1 known missense c.1792 p.G598W 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 142 1 0.699301 145 29 16.6667 AHCYL2 0 genome.wustl.edu 37 7 129019540 129019540 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 129019540 129019540 G A SNP AHCYL2 ENST00000325006 human ensembl 74_37 +1 known missense c.425 p.R142H 1.000 NULL pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase - no_errors AHCYL2 HGNC ENSG00000158467 46 0 0 28 8 22.2222 STRIP2 0 genome.wustl.edu 37 7 129125495 129125495 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 129125495 129125495 G A SNP STRIP2 ENST00000249344 human ensembl 74_37 +1 known missense c.2330 p.R777H 1.000 pfam_DUF3402 pfam_DUF3402,pfam_N1221 - no_errors STRIP2 HGNC ENSG00000128578 87 0 0 54 17 23.9437 WDR91 0 genome.wustl.edu 37 7 134878091 134878091 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 134878091 134878091 C T SNP WDR91 ENST00000354475 human ensembl 74_37 -1 known silent c.1551 p.P517 0.002 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR91 HGNC ENSG00000105875 121 0 0 87 25 22.3214 DGKI 0 genome.wustl.edu 37 7 137148242 137148242 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 137148242 137148242 C T SNP DGKI ENST00000288490 human ensembl 74_37 -1 known missense c.2752 p.V918M 0.636 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 135 0 0 90 24 21.0526 SVOPL 0 genome.wustl.edu 37 7 138333800 138333800 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 138333800 138333800 C T SNP SVOPL ENST00000288513 human ensembl 74_37 -1 known missense c.161 p.R54H 0.998 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SVOPL HGNC ENSG00000157703 68 0 0 40 28 41.1765 ZC3HAV1L 0 genome.wustl.edu 37 7 138720499 138720499 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 138720499 138720499 G A SNP ZC3HAV1L ENST00000275766 human ensembl 74_37 -1 known missense c.265 p.R89C 0.992 NULL NULL - no_errors ZC3HAV1L HGNC ENSG00000146858 9 0 0 9 3 25 HIPK2 0 genome.wustl.edu 37 7 139311473 139311473 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 139311473 139311473 C T SNP HIPK2 ENST00000406875 human ensembl 74_37 -1 known missense c.1493 p.R498Q 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK2 HGNC ENSG00000064393 154 0 0 127 24 15.894 C7orf34 0 genome.wustl.edu 37 7 142636664 142636664 + Silent SNP A A T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 142636664 142636664 A T SNP C7orf34 ENST00000409607 human ensembl 74_37 +1 known silent c.21 p.G7 0.000 NULL NULL - no_errors C7orf34 HGNC ENSG00000165131 57 0 0 37 18 32.7273 ZYX 0 genome.wustl.edu 37 7 143080027 143080027 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 143080027 143080027 T C SNP ZYX ENST00000322764 human ensembl 74_37 +1 known missense c.635 p.V212A 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZYX HGNC ENSG00000159840 134 0 0 116 24 17.1429 CUL1 0 genome.wustl.edu 37 7 148456448 148456448 + Splice_Site SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 148456448 148456448 T C SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known splice_site c.534+2 e4+2 1.000 - - - no_errors CUL1 HGNC ENSG00000055130 114 0 0 101 21 17.2131 ZNF282 0 genome.wustl.edu 37 7 148921642 148921642 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 148921642 148921642 G A SNP ZNF282 ENST00000262085 human ensembl 74_37 +1 known missense c.1919 p.R640H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF282 HGNC ENSG00000170265 51 0 0 34 14 29.1667 KRBA1 0 genome.wustl.edu 37 7 149426385 149426385 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 149426385 149426385 G A SNP KRBA1 ENST00000255992 human ensembl 74_37 +1 known missense c.1732 p.V578I 0.000 NULL NULL - no_errors KRBA1 HGNC ENSG00000133619 26 0 0 16 4 20 KCNH2 0 genome.wustl.edu 37 7 150648901 150648901 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 150648901 150648901 G A SNP KCNH2 ENST00000262186 human ensembl 74_37 -1 known missense c.1580 p.A527V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 85 0 0 66 15 18.5185 SLC4A2 0 genome.wustl.edu 37 7 150767852 150767852 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 150767852 150767852 G A SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known missense c.1603 p.V535M 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 84 0 0 59 15 20.2703 INTS1 0 genome.wustl.edu 37 7 1525028 1525028 + Silent SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 1525028 1525028 C A SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.3540 p.G1180 0.847 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 105 0 0 85 16 15.8416 SHH 0 genome.wustl.edu 37 7 155596158 155596158 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 155596158 155596158 C T SNP SHH ENST00000297261 human ensembl 74_37 -1 known silent c.825 p.A275 1.000 pirsf_Hedgehog,pfam_Hint_dom,smart_Hint_dom_N,prints_Hedgehog pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site - no_errors SHH HGNC ENSG00000164690 13 0 0 7 9 56.25 PTPRN2 0 genome.wustl.edu 37 7 157959759 157959759 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 157959759 157959759 G A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known silent c.843 p.P281 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 36 0 0 30 6 16.6667 PTPRN2 0 genome.wustl.edu 37 7 157985120 157985120 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 157985120 157985120 C T SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.517 p.A173T 0.085 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 127 0 0 104 22 17.4603 ABCB5 0 genome.wustl.edu 37 7 20782576 20782576 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 20782576 20782576 G A SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known missense c.1766 p.R589H 0.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 67 0 0 38 8 17.3913 SP8 0 genome.wustl.edu 37 7 20824133 20824133 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 20824133 20824133 C T SNP SP8 ENST00000418710 human ensembl 74_37 -1 known missense c.1303 p.A435T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1 - no_errors SP8 HGNC ENSG00000164651 18 0 0 15 3 16.6667 DNAH11 0 genome.wustl.edu 37 7 21654837 21654837 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 21654837 21654837 C T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.3958 p.R1320C 1.000 pfam_Dynein_heavy_dom-2 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 DNAH11 HGNC ENSG00000105877 65 0 0 56 11 16.4179 SNX8 0 genome.wustl.edu 37 7 2296552 2296552 + Missense_Mutation SNP A A T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 2296552 2296552 A T SNP SNX8 ENST00000222990 human ensembl 74_37 -1 known missense c.1241 p.I414N 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX8 HGNC ENSG00000106266 59 0 0 53 17 24.2857 KLHL7 0 genome.wustl.edu 37 7 23191791 23191791 + Missense_Mutation SNP G G C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 23191791 23191791 G C SNP KLHL7 ENST00000339077 human ensembl 74_37 +1 known missense c.899 p.G300A 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL7 HGNC ENSG00000122550 70 0 0 33 16 32.6531 IQCE 0 genome.wustl.edu 37 7 2622222 2622222 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 2622222 2622222 C T SNP IQCE ENST00000402050 human ensembl 74_37 +1 known silent c.639 p.N213 0.002 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCE HGNC ENSG00000106012 63 0 0 43 5 10.4167 TTYH3 0 genome.wustl.edu 37 7 2689576 2689576 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 2689576 2689576 C T SNP TTYH3 ENST00000258796 human ensembl 74_37 +1 known silent c.825 p.D275 1.000 pfam_Tweety pfam_Tweety - no_errors TTYH3 HGNC ENSG00000136295 127 0 0 101 24 19.2 CPVL 0 genome.wustl.edu 37 7 29135831 29135831 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 29135831 29135831 T C SNP CPVL ENST00000265394 human ensembl 74_37 -1 known missense c.291 p.I97M 0.000 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CPVL HGNC ENSG00000106066 105 1 0.943396 75 30 28.5714 PRR15 0 genome.wustl.edu 37 7 29606289 29606289 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 29606289 29606289 C T SNP PRR15 ENST00000319694 human ensembl 74_37 +1 known missense c.344 p.P115L 0.005 NULL NULL - no_errors PRR15 HGNC ENSG00000176532 20 0 0 9 3 25 ADCYAP1R1 0 genome.wustl.edu 37 7 31104454 31104454 + Missense_Mutation SNP C C G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 31104454 31104454 C G SNP ADCYAP1R1 ENST00000304166 human ensembl 74_37 +1 known missense c.59 p.A20G 0.951 prints_GPCR_2_PACAP_1_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ENSG00000078549 24 0 0 14 5 26.3158 POU6F2 0 genome.wustl.edu 37 7 39247127 39247127 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 39247127 39247127 C T SNP POU6F2 ENST00000403058 human ensembl 74_37 +1 known missense c.419 p.T140I 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 132 0 0 101 25 19.8413 SDK1 0 genome.wustl.edu 37 7 4152977 4152977 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 4152977 4152977 G T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.3491 p.R1164L 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 291 0 0 166 54 24.5455 GLI3 0 genome.wustl.edu 37 7 42005564 42005564 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 42005564 42005564 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.3107 p.A1036V 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 73 0 0 58 18 23.6842 GLI3 0 genome.wustl.edu 37 7 42005804 42005804 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 42005804 42005804 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.2867 p.R956H 0.977 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 33 0 0 28 7 20 SDK1 0 genome.wustl.edu 37 7 4304977 4304977 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 4304977 4304977 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.6603 p.G2201 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 10 0 0 12 4 25 GCK 0 genome.wustl.edu 37 7 44185159 44185159 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 44185159 44185159 C T SNP GCK ENST00000345378 human ensembl 74_37 -1 known missense c.1193 p.R398H 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors GCK HGNC ENSG00000106633 33 0 0 16 9 36 TNS3 0 genome.wustl.edu 37 7 47474972 47474972 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 47474972 47474972 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.232 p.A78T 1.000 smart_Tyr_Pase_cat,pfscan_Phosphatase_tensin-typ pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 138 0 0 102 20 16.3934 C7orf65 0 genome.wustl.edu 37 7 47694946 47694946 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 47694946 47694946 G A SNP C7orf65 ENST00000408988 human ensembl 74_37 +1 putative missense c.70 p.G24S 0.000 NULL NULL - no_errors C7orf65 HGNC ENSG00000221845 49 0 0 45 11 19.6429 SLC29A4 0 genome.wustl.edu 37 7 5340255 5340255 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 5340255 5340255 C T SNP SLC29A4 ENST00000297195 human ensembl 74_37 +1 known missense c.1412 p.A471V 0.999 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 132 0 0 112 23 17.037 SLC29A4 0 genome.wustl.edu 37 7 5340275 5340275 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 5340275 5340275 A G SNP SLC29A4 ENST00000297195 human ensembl 74_37 +1 known missense c.1432 p.K478E 0.954 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 114 0 0 82 16 16.3265 SEPT14 0 genome.wustl.edu 37 7 55902182 55902182 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 55902182 55902182 C T SNP SEPT14 ENST00000388975 human ensembl 74_37 -1 known missense c.656 p.G219D 0.993 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT14 HGNC ENSG00000154997 35 0 0 23 9 28.125 GBAS 0 genome.wustl.edu 37 7 56051523 56051523 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 56051523 56051523 G A SNP GBAS ENST00000322090 human ensembl 74_37 +1 known missense c.547 p.G183R 1.000 superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors GBAS HGNC ENSG00000146729 74 0 0 55 10 15.3846 CYTH3 0 genome.wustl.edu 37 7 6210190 6210190 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 6210190 6210190 G A SNP CYTH3 ENST00000350796 human ensembl 74_37 -1 known missense c.799 p.R267C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH3 HGNC ENSG00000008256 77 0 0 61 18 22.7848 ZNF679 0 genome.wustl.edu 37 7 63726916 63726916 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 63726916 63726916 G A SNP ZNF679 ENST00000255746 human ensembl 74_37 +1 known missense c.905 p.G302D 0.996 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF679 HGNC ENSG00000197123 40 0 0 40 11 21.5686 CCT6P3 0 genome.wustl.edu 37 7 64530112 64530112 + RNA SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 64530112 64530112 G T SNP CCT6P3 ENST00000426828 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CCT6P3 HGNC ENSG00000234585 44 0 0 33 7 17.5 CRCP 0 genome.wustl.edu 37 7 65617408 65617408 + RNA SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 65617408 65617408 T C SNP CRCP ENST00000492264 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CRCP HGNC ENSG00000241258 41 0 0 34 5 12.8205 GTF2IRD2P1 0 genome.wustl.edu 37 7 72657377 72657377 + RNA SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 72657377 72657377 A G SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.987 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 82 0 0 71 22 23.6559 GTF2IRD2P1 0 genome.wustl.edu 37 7 72657899 72657899 + RNA SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 72657899 72657899 C T SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.938 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 132 0 0 87 15 14.7059 CLIP2 0 genome.wustl.edu 37 7 73753106 73753106 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 73753106 73753106 G A SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known silent c.450 p.T150 0.011 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 40 0 0 32 11 25.5814 MAGI2 0 genome.wustl.edu 37 7 77885514 77885514 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 77885514 77885514 G A SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.1793 p.A598V 1.000 superfamily_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 46 0 0 50 5 9.09091 HGF 0 genome.wustl.edu 37 7 81335709 81335709 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 81335709 81335709 G A SNP HGF ENST00000222390 human ensembl 74_37 -1 known missense c.1651 p.H551Y 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 106 0 0 68 12 15 PCLO 0 genome.wustl.edu 37 7 82474764 82474764 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 82474764 82474764 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.13869 p.Q4623 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 28 0 0 25 6 19.3548 PCLO 0 genome.wustl.edu 37 7 82580152 82580152 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 82580152 82580152 A G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.9752 p.I3251T 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 107 0 0 83 19 18.6275 SEMA3E 0 genome.wustl.edu 37 7 83037731 83037731 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 83037731 83037731 C T SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known missense c.623 p.R208Q 0.003 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 52 0 0 41 7 14.5833 ABCB4 0 genome.wustl.edu 37 7 87037363 87037363 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 87037363 87037363 G A SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.3269 p.A1090V 0.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 125 0 0 116 26 18.3099 ABCB1 0 genome.wustl.edu 37 7 87133529 87133529 + RNA SNP A A C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 87133529 87133529 A C SNP ABCB1 ENST00000488737 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors ABCB1 HGNC ENSG00000085563 46 0 0 39 8 17.0213 SLC25A13 0 genome.wustl.edu 37 7 95775886 95775886 + Silent SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 95775886 95775886 C A SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known silent c.1437 p.G479 0.854 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 294 0 0 158 93 37.0518 SHFM1 0 genome.wustl.edu 37 7 96324111 96324111 + Nonsense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 96324111 96324111 G A SNP SHFM1 ENST00000248566 human ensembl 74_37 -1 known nonsense c.169 p.R57* 1.000 pfam_DSS1_SEM1 pfam_DSS1_SEM1 - no_errors SHFM1 HGNC ENSG00000127922 88 0 0 41 24 36.9231 ZKSCAN5 0 genome.wustl.edu 37 7 99103788 99103788 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 99103788 99103788 T C SNP ZKSCAN5 ENST00000326775 human ensembl 74_37 +1 known missense c.121 p.Y41H 0.967 superfamily_Retrov_capsid_C pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ENSG00000196652 187 0 0 141 31 18.0233 AP4M1 0 genome.wustl.edu 37 7 99700406 99700406 + Splice_Site SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 99700406 99700406 T C SNP AP4M1 ENST00000359593 human ensembl 74_37 +1 known splice_site c.254+2 e3+2 1.000 - - - no_errors AP4M1 HGNC ENSG00000221838 87 0 0 96 18 15.7895 VPS13B 0 genome.wustl.edu 37 8 100115327 100115327 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 100115327 100115327 C T SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.559 p.R187C 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 87 0 0 52 15 22.3881 CTHRC1 0 genome.wustl.edu 37 8 104388118 104388118 + Silent SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 104388118 104388118 C A SNP CTHRC1 ENST00000330295 human ensembl 74_37 +1 known silent c.303 p.S101 1.000 NULL pfam_Collagen - no_errors CTHRC1 HGNC ENSG00000164932 66 0 0 34 8 19.0476 ZHX1 0 genome.wustl.edu 37 8 124266643 124266643 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 124266643 124266643 G A SNP ZHX1 ENST00000297857 human ensembl 74_37 -1 known missense c.1544 p.T515I 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 141 0 0 72 30 29.4118 FER1L6 0 genome.wustl.edu 37 8 124989713 124989713 + Silent SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 124989713 124989713 C A SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known silent c.927 p.I309 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 135 0 0 81 20 19.802 ASAP1 0 genome.wustl.edu 37 8 131070256 131070256 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 131070256 131070256 T C SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.3259 p.T1087A 0.999 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 141 0 0 71 26 26.8041 ADCY8 0 genome.wustl.edu 37 8 131833656 131833656 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 131833656 131833656 C A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.2686 p.G896W 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 40 0 0 31 5 13.8889 LRRC6 0 genome.wustl.edu 37 8 133627291 133627291 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 133627291 133627291 C T SNP LRRC6 ENST00000250173 human ensembl 74_37 -1 known missense c.967 p.V323I 0.999 superfamily_HSP20-like_chaperone,pfscan_CS_dom superfamily_HSP20-like_chaperone,smart_U2A'_phosphoprotein32A_C,pfscan_CS_dom - no_errors LRRC6 HGNC ENSG00000129295 57 0 0 29 5 14.7059 WISP1 0 genome.wustl.edu 37 8 134203444 134203444 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 134203444 134203444 C T SNP WISP1 ENST00000377863 human ensembl 74_37 +1 known missense c.82 p.R28C 0.120 NULL pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt - no_errors WISP1 HGNC ENSG00000104415 35 0 0 24 12 33.3333 ENSG00000271959 0 genome.wustl.edu 37 8 142445183 142445183 + RNA SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 142445183 142445183 C A SNP ENSG00000271959 ENST00000606664 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors CTD-3064M3.7 Clone_based_vega_gene ENSG00000271959 34 0 0 25 10 28.5714 RHPN1 0 genome.wustl.edu 37 8 144462816 144462816 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 144462816 144462816 C T SNP RHPN1 ENST00000289013 human ensembl 74_37 +1 known missense c.1274 p.A425V 0.074 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ - no_errors RHPN1 HGNC ENSG00000158106 11 0 0 3 4 57.1429 SCRIB 0 genome.wustl.edu 37 8 144887379 144887379 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 144887379 144887379 C T SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.2573 p.R858H 0.109 superfamily_PDZ pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 15 0 0 9 3 25 EPPK1 0 genome.wustl.edu 37 8 144946807 144946807 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 144946807 144946807 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.615 p.T205 0.000 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 41 0 0 24 7 22.5806 CYC1 0 genome.wustl.edu 37 8 145152192 145152192 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 145152192 145152192 T C SNP CYC1 ENST00000318911 human ensembl 74_37 +1 known missense c.931 p.W311R 1.000 pfam_Cyt_c1,superfamily_Cyt_c1_TM_anchor_C pfam_Cyt_c1,superfamily_Cyt_c-like_dom,superfamily_Cyt_c1_TM_anchor_C,prints_Cyt_c1 - no_errors CYC1 HGNC ENSG00000179091 76 0 0 45 11 19.6429 CPSF1 0 genome.wustl.edu 37 8 145626108 145626108 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 145626108 145626108 G A SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.643 p.P215S 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 23 0 0 15 11 42.3077 PPP1R16A 0 genome.wustl.edu 37 8 145725579 145725579 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 145725579 145725579 C T SNP PPP1R16A ENST00000292539 human ensembl 74_37 +1 known missense c.577 p.R193C 0.447 superfamily_Ankyrin_rpt-contain_dom,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R16A HGNC ENSG00000160972 35 0 0 28 6 17.6471 ZNF517 0 genome.wustl.edu 37 8 146033389 146033389 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 146033389 146033389 C T SNP ZNF517 ENST00000359971 human ensembl 74_37 +1 known missense c.1088 p.A363V 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF517 HGNC ENSG00000197363 20 0 0 17 7 29.1667 TUSC3 0 genome.wustl.edu 37 8 15508312 15508312 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 15508312 15508312 G A SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.415 p.V139I 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 156 0 0 81 33 28.9474 SORBS3 0 genome.wustl.edu 37 8 22428603 22428603 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 22428603 22428603 C T SNP SORBS3 ENST00000240123 human ensembl 74_37 +1 known missense c.1612 p.R538C 0.006 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS3 HGNC ENSG00000120896 96 0 0 56 20 26.3158 CHMP7 0 genome.wustl.edu 37 8 23117743 23117743 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 23117743 23117743 C A SNP CHMP7 ENST00000313219 human ensembl 74_37 +1 known missense c.1207 p.R403S 0.946 pfam_Snf7 pfam_Snf7 - no_errors CHMP7 HGNC ENSG00000147457 122 0 0 70 21 23.0769 KCTD9 0 genome.wustl.edu 37 8 25292919 25292919 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 25292919 25292919 G A SNP KCTD9 ENST00000221200 human ensembl 74_37 -1 known missense c.773 p.A258V 1.000 pfam_5peptide_repeat pfam_5peptide_repeat,pfam_T1-type_BTB,pfam_K_channel_plant,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD9 HGNC ENSG00000104756 40 0 0 25 8 24.2424 DUSP4 0 genome.wustl.edu 37 8 29194651 29194651 + Silent SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 29194651 29194651 G T SNP DUSP4 ENST00000240100 human ensembl 74_37 -1 known silent c.1077 p.T359 0.888 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP4 HGNC ENSG00000120875 26 0 0 21 9 30 ADAM32 0 genome.wustl.edu 37 8 39022310 39022310 + Missense_Mutation SNP A A T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 39022310 39022310 A T SNP ADAM32 ENST00000379907 human ensembl 74_37 +1 known missense c.622 p.I208L 0.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC ENSG00000197140 52 0 0 37 16 30.1887 AP3M2 0 genome.wustl.edu 37 8 42019858 42019858 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 42019858 42019858 C T SNP AP3M2 ENST00000174653 human ensembl 74_37 +1 known missense c.505 p.R169W 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP3M2 HGNC ENSG00000070718 329 0 0 189 48 20.2532 PLAT 0 genome.wustl.edu 37 8 42033526 42033526 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 42033526 42033526 G A SNP PLAT ENST00000220809 human ensembl 74_37 -1 known silent c.1674 p.D558 0.001 superfamily_Trypsin-like_Pept_dom,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PLAT HGNC ENSG00000104368 38 0 0 30 11 26.8293 PRKDC 0 genome.wustl.edu 37 8 48777212 48777212 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 48777212 48777212 T C SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.5473 p.T1825A 1.000 pfam_NUC194,superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 19 0 0 16 6 27.2727 PXDNL 0 genome.wustl.edu 37 8 52323922 52323922 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 52323922 52323922 C T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known silent c.1950 p.P650 0.000 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 26 0 0 13 4 23.5294 RP1 0 genome.wustl.edu 37 8 55541567 55541567 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 55541567 55541567 G A SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.5125 p.V1709M 0.004 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 102 0 0 53 12 18.4615 NSMAF 0 genome.wustl.edu 37 8 59520362 59520362 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 59520362 59520362 C T SNP NSMAF ENST00000427130 human ensembl 74_37 -1 known missense c.818 p.R273H 1.000 pfam_GRAM,smart_GRAM pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 180 0 0 110 26 19.1176 BHLHE22 0 genome.wustl.edu 37 8 65493746 65493746 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 65493746 65493746 G A SNP BHLHE22 ENST00000321870 human ensembl 74_37 +1 known silent c.399 p.A133 0.807 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE22 HGNC ENSG00000180828 22 0 0 15 4 21.0526 DEFB1 0 genome.wustl.edu 37 8 6728283 6728283 + Nonsense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 6728283 6728283 G A SNP DEFB1 ENST00000297439 human ensembl 74_37 -1 known nonsense c.127 p.Q43* 0.000 pfam_Defensin_beta-typ pfam_Defensin_beta-typ - no_errors DEFB1 HGNC ENSG00000164825 84 0 0 29 14 32.5581 C8orf46 0 genome.wustl.edu 37 8 67425779 67425779 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 67425779 67425779 C T SNP C8orf46 ENST00000305454 human ensembl 74_37 +1 known missense c.347 p.P116L 0.996 NULL NULL - no_errors C8orf46 HGNC ENSG00000169085 114 0 0 93 23 19.8276 SLCO5A1 0 genome.wustl.edu 37 8 70744100 70744100 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 70744100 70744100 G A SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.809 p.A270V 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 129 0 0 78 26 25 PRDM14 0 genome.wustl.edu 37 8 70980488 70980488 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 70980488 70980488 C T SNP PRDM14 ENST00000276594 human ensembl 74_37 -1 known missense c.889 p.G297R 0.093 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM14 HGNC ENSG00000147596 150 0 0 101 39 27.8571 IMPA1 0 genome.wustl.edu 37 8 82592961 82592961 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 82592961 82592961 C A SNP IMPA1 ENST00000449740 human ensembl 74_37 -1 known missense c.298 p.D100Y 1.000 pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase pfam_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen,prints_Inositol_monophosphatase - no_errors IMPA1 HGNC ENSG00000133731 89 0 0 20 8 28.5714 DECR1 0 genome.wustl.edu 37 8 91031385 91031385 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 91031385 91031385 T C SNP DECR1 ENST00000220764 human ensembl 74_37 +1 known silent c.402 p.V134 0.003 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors DECR1 HGNC ENSG00000104325 37 0 0 21 7 25 KIAA1429 0 genome.wustl.edu 37 8 95523814 95523814 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 95523814 95523814 G T SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known missense c.2989 p.L997I 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 95 0 0 67 20 22.9885 NDUFAF6 0 genome.wustl.edu 37 8 96047721 96047721 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 96047721 96047721 C T SNP NDUFAF6 ENST00000396124 human ensembl 74_37 +1 known nonsense c.337 p.R113* 1.000 pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth - no_errors NDUFAF6 HGNC ENSG00000156170 48 0 0 27 12 30.7692 TNKS 0 genome.wustl.edu 37 8 9609124 9609124 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 9609124 9609124 C T SNP TNKS ENST00000310430 human ensembl 74_37 +1 known silent c.2838 p.D946 0.416 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 176 0 0 104 43 29.2517 GDF6 0 genome.wustl.edu 37 8 97157057 97157057 + Missense_Mutation SNP A A C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 97157057 97157057 A C SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known missense c.1102 p.W368G 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 49 0 0 35 9 20.4545 PTDSS1 0 genome.wustl.edu 37 8 97321797 97321797 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 97321797 97321797 T C SNP PTDSS1 ENST00000517309 human ensembl 74_37 +1 known silent c.1020 p.A340 0.999 pfam_PSS pfam_PSS - no_errors PTDSS1 HGNC ENSG00000156471 71 0 0 32 14 30.4348 OSR2 0 genome.wustl.edu 37 8 99961493 99961493 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 99961493 99961493 G A SNP OSR2 ENST00000457907 human ensembl 74_37 +1 known missense c.676 p.V226I 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR2 HGNC ENSG00000164920 267 1 0.373134 163 58 26.2443 GABBR2 0 genome.wustl.edu 37 9 101340317 101340317 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 101340317 101340317 G A SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known missense c.359 p.A120V 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 91 0 0 38 16 29.6296 NR4A3 0 genome.wustl.edu 37 9 102590786 102590786 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 102590786 102590786 G A SNP NR4A3 ENST00000330847 human ensembl 74_37 +1 known silent c.495 p.A165 0.316 prints_Nuc_orph_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_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A3 HGNC ENSG00000119508 72 0 0 45 17 27.4194 ALDOB 0 genome.wustl.edu 37 9 104189783 104189783 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 104189783 104189783 T C SNP ALDOB ENST00000374855 human ensembl 74_37 -1 known missense c.521 p.Y174C 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOB HGNC ENSG00000136872 75 0 0 48 9 15.7895 ZNF462 0 genome.wustl.edu 37 9 109689819 109689819 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 109689819 109689819 T C SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.3626 p.L1209P 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 639 0 0 401 140 25.878 ZNF462 0 genome.wustl.edu 37 9 109736549 109736549 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 109736549 109736549 A G SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.7007 p.H2336R 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 488 1 0.204499 278 77 21.6901 MUSK 0 genome.wustl.edu 37 9 113510017 113510017 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 113510017 113510017 G T SNP MUSK ENST00000374448 human ensembl 74_37 +1 known missense c.850 p.A284S 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 150 0 0 71 22 23.6559 KIAA0368 0 genome.wustl.edu 37 9 114151873 114151873 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 114151873 114151873 G A SNP KIAA0368 ENST00000259335 human ensembl 74_37 -1 known missense c.3944 p.T1315I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 50 0 0 27 13 32.5 BRINP1 0 genome.wustl.edu 37 9 121929407 121929407 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 121929407 121929407 C T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known silent c.2241 p.T747 0.010 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 226 0 0 131 37 22.0238 STOM 0 genome.wustl.edu 37 9 124110298 124110298 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 124110298 124110298 C T SNP STOM ENST00000286713 human ensembl 74_37 -1 known missense c.655 p.A219T 1.000 pfam_Band_7,prints_Stomatin pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOM HGNC ENSG00000148175 126 0 0 81 20 19.802 PDCL 0 genome.wustl.edu 37 9 125585301 125585301 + Missense_Mutation SNP A A C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 125585301 125585301 A C SNP PDCL ENST00000259467 human ensembl 74_37 -1 known missense c.348 p.S116R 0.993 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin - no_errors PDCL HGNC ENSG00000136940 157 1 0.632911 92 29 23.9669 SCAI 0 genome.wustl.edu 37 9 127781189 127781189 + Silent SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 127781189 127781189 A G SNP SCAI ENST00000373549 human ensembl 74_37 -1 known silent c.819 p.V273 0.989 pfam_DUF3550,pirsf_UCP013022 pfam_DUF3550,pirsf_UCP013022 - no_errors SCAI HGNC ENSG00000173611 69 0 0 28 12 30 ZBTB34 0 genome.wustl.edu 37 9 129642876 129642876 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 129642876 129642876 G A SNP ZBTB34 ENST00000319119 human ensembl 74_37 +1 known missense c.1198 p.G400R 1.000 pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB34 HGNC ENSG00000177125 78 0 0 44 11 20 LCN2 0 genome.wustl.edu 37 9 130913968 130913968 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 130913968 130913968 C T SNP LCN2 ENST00000372998 human ensembl 74_37 +1 known silent c.333 p.P111 0.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln - no_errors LCN2 HGNC ENSG00000148346 80 0 0 56 13 18.8406 SLC27A4 0 genome.wustl.edu 37 9 131105530 131105530 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 131105530 131105530 G A SNP SLC27A4 ENST00000300456 human ensembl 74_37 +1 known missense c.119 p.R40H 0.998 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC ENSG00000167114 79 0 0 62 18 22.5 MPDZ 0 genome.wustl.edu 37 9 13176312 13176312 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 13176312 13176312 C T SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known silent c.2754 p.S918 0.000 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 15 0 0 5 9 64.2857 CRAT 0 genome.wustl.edu 37 9 131864692 131864692 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 131864692 131864692 A G SNP CRAT ENST00000318080 human ensembl 74_37 -1 known missense c.617 p.V206A 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 254 0 0 155 43 21.7172 ABL1 0 genome.wustl.edu 37 9 133738296 133738296 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 133738296 133738296 C T SNP ABL1 ENST00000372348 human ensembl 74_37 +1 known silent c.753 p.Y251 0.985 superfamily_Kinase-like_dom pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 143 0 0 83 28 25.2252 FAM78A 0 genome.wustl.edu 37 9 134151373 134151373 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 134151373 134151373 C T SNP FAM78A ENST00000372271 human ensembl 74_37 -1 known missense c.194 p.R65Q 1.000 NULL NULL - no_errors FAM78A HGNC ENSG00000126882 93 0 0 64 24 27.2727 TSC1 0 genome.wustl.edu 37 9 135771922 135771922 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 135771922 135771922 C T SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known silent c.3195 p.T1065 0.000 NULL pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 104 0 0 70 33 32.0388 GTF3C5 0 genome.wustl.edu 37 9 135927498 135927498 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 135927498 135927498 A G SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known missense c.820 p.S274G 1.000 pfam_TF_IIIC_su-5 pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 92 0 0 60 24 28.5714 CEL 0 genome.wustl.edu 37 9 135940544 135940544 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 135940544 135940544 G A SNP CEL ENST00000372080 human ensembl 74_37 +1 known missense c.467 p.R156H 0.562 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 1237 0 0 838 83 9.01194 CEL 0 genome.wustl.edu 37 9 135940576 135940576 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 135940576 135940576 C T SNP CEL ENST00000372080 human ensembl 74_37 +1 known missense c.499 p.R167C 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 1104 0 0 750 84 10.0719 SARDH 0 genome.wustl.edu 37 9 136573535 136573535 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 136573535 136573535 C T SNP SARDH ENST00000371872 human ensembl 74_37 -1 known silent c.1344 p.S448 0.464 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 195 0 0 117 44 27.3292 RXRA 0 genome.wustl.edu 37 9 137300840 137300840 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 137300840 137300840 C T SNP RXRA ENST00000481739 human ensembl 74_37 +1 known missense c.485 p.T162M 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt - no_errors RXRA HGNC ENSG00000186350 205 0 0 122 61 33.3333 PPP1R26 0 genome.wustl.edu 37 9 138379776 138379776 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 138379776 138379776 C T SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known silent c.3420 p.D1140 0.001 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 79 0 0 29 11 27.5 OBP2A 0 genome.wustl.edu 37 9 138438642 138438642 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 138438642 138438642 G A SNP OBP2A ENST00000340780 human ensembl 74_37 +1 known missense c.91 p.V31M 0.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland - no_errors OBP2A HGNC ENSG00000122136 32 0 0 21 5 19.2308 KCNT1 0 genome.wustl.edu 37 9 138657599 138657599 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 138657599 138657599 C T SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known nonsense c.1330 p.R444* 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 24 0 0 18 10 35.7143 CAMSAP1 0 genome.wustl.edu 37 9 138703236 138703236 + Missense_Mutation SNP A A C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 138703236 138703236 A C SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known missense c.4761 p.S1587R 0.909 pfam_CKK_domain,superfamily_PRC_barrel-like pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 23 0 0 17 6 26.087 QSOX2 0 genome.wustl.edu 37 9 139137477 139137477 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 139137477 139137477 G A SNP QSOX2 ENST00000358701 human ensembl 74_37 -1 known missense c.173 p.A58V 0.997 superfamily_Thioredoxin-like_fold pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX2 HGNC ENSG00000165661 12 0 0 12 6 33.3333 NOTCH1 0 genome.wustl.edu 37 9 139396207 139396207 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 139396207 139396207 G A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known silent c.5631 p.R1877 0.439 pirsf_Notch,pfscan_Ankyrin_rpt-contain_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 58 0 0 31 11 26.1905 C9orf172 0 genome.wustl.edu 37 9 139740046 139740046 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 139740046 139740046 C T SNP C9orf172 ENST00000436881 human ensembl 74_37 +1 known missense c.1180 p.H394Y 0.001 NULL NULL - no_errors C9orf172 HGNC ENSG00000232434 26 0 0 17 7 29.1667 PHPT1 0 genome.wustl.edu 37 9 139745008 139745008 + Missense_Mutation SNP T T A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 139745008 139745008 T A SNP PHPT1 ENST00000371661 human ensembl 74_37 +1 known missense c.336 p.H112Q 0.001 NULL pfam_Ocnus - no_errors PHPT1 HGNC ENSG00000054148 33 0 0 25 5 16.6667 CACNA1B 0 genome.wustl.edu 37 9 141015984 141015984 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 141015984 141015984 G A SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.6556 p.G2186S 0.736 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 39 0 0 21 10 32.2581 TUBBP5 0 genome.wustl.edu 37 9 141070209 141070209 + RNA SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 141070209 141070209 G A SNP TUBBP5 ENST00000503395 human ensembl 74_37 +1 known rna NULL NULL 0.737 - - - no_errors TUBBP5 HGNC ENSG00000159247 40 0 0 17 5 22.7273 CCDC171 0 genome.wustl.edu 37 9 15745548 15745548 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 15745548 15745548 C A SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.2590 p.L864I 0.055 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 208 0 0 117 47 28.6585 SLC24A2 0 genome.wustl.edu 37 9 19516162 19516162 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 19516162 19516162 C T SNP SLC24A2 ENST00000341998 human ensembl 74_37 -1 known missense c.1975 p.V659I 0.996 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A2 HGNC ENSG00000155886 373 2 0.533333 196 52 20.9677 SMARCA2 0 genome.wustl.edu 37 9 2039686 2039686 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 2039686 2039686 G A SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known silent c.576 p.L192 1.000 pfam_Gln-Leu-Gln_QLQ,smart_Gln-Leu-Gln_QLQ pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 132 0 0 54 20 27.027 CDKN2A 0 genome.wustl.edu 37 9 21971114 21971114 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 21971114 21971114 C T SNP CDKN2A ENST00000361570 human ensembl 74_37 -1 known missense c.410 p.R137H 0.984 NULL pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC ENSG00000147889 70 0 0 48 15 23.8095 VLDLR 0 genome.wustl.edu 37 9 2645662 2645662 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 2645662 2645662 G T SNP VLDLR ENST00000382100 human ensembl 74_37 +1 known missense c.1401 p.Q467H 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt_N_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 VLDLR HGNC ENSG00000147852 213 0 0 149 35 19.0217 KIAA0020 0 genome.wustl.edu 37 9 2837315 2837315 + Missense_Mutation SNP T T A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 2837315 2837315 T A SNP KIAA0020 ENST00000397885 human ensembl 74_37 -1 known missense c.169 p.I57F 0.998 NULL pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 157 0 0 61 29 32.2222 TOPORS 0 genome.wustl.edu 37 9 32543988 32543988 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 32543988 32543988 G A SNP TOPORS ENST00000360538 human ensembl 74_37 -1 known missense c.535 p.R179C 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC ENSG00000197579 97 0 0 66 4 5.71429 SMU1 0 genome.wustl.edu 37 9 33056197 33056197 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 33056197 33056197 G A SNP SMU1 ENST00000397149 human ensembl 74_37 -1 known missense c.1036 p.R346C 1.000 pfam_WD40_repeat,pfam_Nucleoporin_Nup160,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Nucleoporin_Nup160,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SMU1 HGNC ENSG00000122692 40 0 0 22 6 21.4286 KIAA1161 0 genome.wustl.edu 37 9 34370908 34370908 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 34370908 34370908 G A SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known silent c.1932 p.P644 0.027 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 74 0 0 64 22 25.5814 CCIN 0 genome.wustl.edu 37 9 36170715 36170715 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 36170715 36170715 G A SNP CCIN ENST00000335119 human ensembl 74_37 +1 known missense c.1216 p.A406T 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors CCIN HGNC ENSG00000185972 148 0 0 88 27 23.4783 INSL4 0 genome.wustl.edu 37 9 5231719 5231719 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 5231719 5231719 G A SNP INSL4 ENST00000239316 human ensembl 74_37 +1 known missense c.196 p.E66K 0.002 superfamily_Insulin-like,prints_Placentin superfamily_Insulin-like,prints_Placentin,prints_Relaxin - no_errors INSL4 HGNC ENSG00000120211 48 0 0 29 14 32.5581 LOC100996870 0 genome.wustl.edu 37 9 66466389 66466389 + RNA SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 66466389 66466389 G A SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 8 0 0 5 3 37.5 ENSG00000227582 0 genome.wustl.edu 37 9 66517632 66517632 + RNA SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 66517632 66517632 A G SNP ENSG00000227582 ENST00000590130 human ensembl 74_37 -1 known rna NULL NULL 0.137 - - - no_errors RP11-262H14.7 Clone_based_vega_gene ENSG00000227582 154 0 0 108 14 11.4754 PRKACG 0 genome.wustl.edu 37 9 71628547 71628547 + Silent SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 71628547 71628547 G T SNP PRKACG ENST00000377276 human ensembl 74_37 -1 known silent c.462 p.A154 0.941 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,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACG HGNC ENSG00000165059 57 0 0 25 7 21.875 PRKACG 0 genome.wustl.edu 37 9 71628605 71628605 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 71628605 71628605 C T SNP PRKACG ENST00000377276 human ensembl 74_37 -1 known missense c.404 p.R135H 0.179 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,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACG HGNC ENSG00000165059 75 0 0 45 7 13.4615 SMC5 0 genome.wustl.edu 37 9 72913007 72913007 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 72913007 72913007 C T SNP SMC5 ENST00000361138 human ensembl 74_37 +1 known silent c.1179 p.C393 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase - no_errors SMC5 HGNC ENSG00000198887 99 0 0 69 20 22.4719 FOXB2 0 genome.wustl.edu 37 9 79635850 79635850 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 79635850 79635850 C T SNP FOXB2 ENST00000376708 human ensembl 74_37 +1 known missense c.1280 p.S427L 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head,prints_Antifreeze_1 - no_errors FOXB2 HGNC ENSG00000204612 11 0 0 10 5 33.3333 ZCCHC6 0 genome.wustl.edu 37 9 88960693 88960693 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 88960693 88960693 C T SNP ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known missense c.710 p.R237Q 0.997 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 52 0 0 38 10 20.8333 DAPK1 0 genome.wustl.edu 37 9 90315079 90315079 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 90315079 90315079 C T SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known missense c.2798 p.A933V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 126 0 0 82 21 20.3883 SECISBP2 0 genome.wustl.edu 37 9 91964832 91964832 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 91964832 91964832 G A SNP SECISBP2 ENST00000375807 human ensembl 74_37 +1 known missense c.1880 p.R627H 1.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2 HGNC ENSG00000187742 89 0 0 48 16 25 SEMA4D 0 genome.wustl.edu 37 9 92003589 92003589 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 92003589 92003589 G A SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known missense c.1069 p.R357C 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 66 0 0 43 18 29.5082 SPTLC1 0 genome.wustl.edu 37 9 94809549 94809549 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 94809549 94809549 C T SNP SPTLC1 ENST00000262554 human ensembl 74_37 -1 known missense c.986 p.R329Q 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC1 HGNC ENSG00000090054 81 0 0 60 22 26.8293 SPTLC1 0 genome.wustl.edu 37 9 94870946 94870946 + RNA SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 94870946 94870946 A G SNP SPTLC1 ENST00000461132 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors SPTLC1 HGNC ENSG00000090054 54 0 0 23 12 34.2857 IPPK 0 genome.wustl.edu 37 9 95397511 95397511 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 95397511 95397511 C T SNP IPPK ENST00000287996 human ensembl 74_37 -1 known silent c.996 p.L332 1.000 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 84 0 0 56 18 24.3243 BICD2 0 genome.wustl.edu 37 9 95481295 95481295 + Nonsense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 95481295 95481295 G T SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known nonsense c.1632 p.C544* 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 163 0 0 107 30 21.8978 ZNF484 0 genome.wustl.edu 37 9 95610082 95610082 + Silent SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 95610082 95610082 T C SNP ZNF484 ENST00000395506 human ensembl 74_37 -1 known silent c.993 p.K331 0.015 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF484 HGNC ENSG00000127081 95 0 0 50 19 27.5362 PHF2 0 genome.wustl.edu 37 9 96435920 96435920 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 96435920 96435920 T C SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.2402 p.M801T 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 80 0 0 64 18 21.9512 MT-ND5 0 genome.wustl.edu 37 MT 12926 12926 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 MT 12926 12926 A G SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.590 p.D197G NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 326 0 0 26 25 49.0196 WWC3 0 genome.wustl.edu 37 X 10085333 10085333 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 10085333 10085333 C T SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.1234 p.R412C 1.000 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 205 0 0 94 42 30.8824 ZMAT1 0 genome.wustl.edu 37 X 101138596 101138596 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 101138596 101138596 G A SNP ZMAT1 ENST00000372782 human ensembl 74_37 -1 known silent c.1803 p.S601 0.007 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 155 0 0 83 30 26.5487 GPRASP1 0 genome.wustl.edu 37 X 101912159 101912159 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 101912159 101912159 G A SNP GPRASP1 ENST00000361600 human ensembl 74_37 +1 known silent c.3318 p.Q1106 0.012 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 229 0 0 151 39 20.5263 BEX1 0 genome.wustl.edu 37 X 102318161 102318161 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 102318161 102318161 C T SNP BEX1 ENST00000372728 human ensembl 74_37 -1 known missense c.42 p.M14I 0.263 pfam_TF_A-like/BEX-like,pirsf_BEX pfam_TF_A-like/BEX-like,pirsf_BEX - no_errors BEX1 HGNC ENSG00000133169 349 0 0 183 74 28.7938 RAB9B 0 genome.wustl.edu 37 X 103080513 103080513 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 103080513 103080513 G A SNP RAB9B ENST00000243298 human ensembl 74_37 -1 known missense c.202 p.R68C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB9B HGNC ENSG00000123570 113 0 0 76 30 28.3019 SLC25A53 0 genome.wustl.edu 37 X 103349129 103349129 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 103349129 103349129 C T SNP SLC25A53 ENST00000357421 human ensembl 74_37 -1 known missense c.812 p.R271H 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A53 HGNC ENSG00000176274 69 0 0 40 21 34.4262 MORC4 0 genome.wustl.edu 37 X 106236506 106236506 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 106236506 106236506 C T SNP MORC4 ENST00000355610 human ensembl 74_37 -1 known missense c.262 p.D88N 1.000 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW - no_errors MORC4 HGNC ENSG00000133131 120 0 0 63 23 26.7442 IRS4 0 genome.wustl.edu 37 X 107976125 107976125 + Silent SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 107976125 107976125 G T SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known silent c.3450 p.A1150 0.000 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 236 0 0 139 53 27.6042 AMMECR1 0 genome.wustl.edu 37 X 109561047 109561047 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 109561047 109561047 G A SNP AMMECR1 ENST00000262844 human ensembl 74_37 -1 known silent c.253 p.L85 1.000 NULL pfam_AMMECR1_domain,superfamily_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 - no_errors AMMECR1 HGNC ENSG00000101935 11 0 0 4 6 60 HCCS 0 genome.wustl.edu 37 X 11139095 11139095 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 11139095 11139095 G A SNP HCCS ENST00000321143 human ensembl 74_37 +1 known missense c.590 p.R197Q 0.969 pfam_Cyt_C/C1_haem_lyase pfam_Cyt_C/C1_haem_lyase - no_errors HCCS HGNC ENSG00000004961 183 0 0 105 27 20.4545 LHFPL1 0 genome.wustl.edu 37 X 111914299 111914299 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 111914299 111914299 C T SNP LHFPL1 ENST00000371968 human ensembl 74_37 -1 known missense c.320 p.C107Y 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL1 HGNC ENSG00000182508 85 0 0 64 20 23.8095 RHOXF2 0 genome.wustl.edu 37 X 119293198 119293198 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 119293198 119293198 G A SNP RHOXF2 ENST00000371388 human ensembl 74_37 +1 known silent c.357 p.S119 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors RHOXF2 HGNC ENSG00000131721 91 0 0 65 7 9.72222 ZBTB33 0 genome.wustl.edu 37 X 119387796 119387796 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 119387796 119387796 G A SNP ZBTB33 ENST00000326624 human ensembl 74_37 +1 known missense c.526 p.E176K 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB33 HGNC ENSG00000177485 60 0 0 33 13 28.2609 THOC2 0 genome.wustl.edu 37 X 122799612 122799612 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 122799612 122799612 T C SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known missense c.1267 p.S423G 0.900 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 139 0 0 76 22 22.449 SMARCA1 0 genome.wustl.edu 37 X 128614736 128614736 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 128614736 128614736 C T SNP SMARCA1 ENST00000371122 human ensembl 74_37 -1 known missense c.2384 p.R795H 1.000 pfam_ISWI_HAND-dom,superfamily_ISWI_HAND-dom pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 74 0 0 42 8 16 SASH3 0 genome.wustl.edu 37 X 128927705 128927705 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 128927705 128927705 G A SNP SASH3 ENST00000356892 human ensembl 74_37 +1 known missense c.1040 p.R347H 0.969 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH3 HGNC ENSG00000122122 51 0 0 38 14 26.9231 TLR7 0 genome.wustl.edu 37 X 12904062 12904062 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 12904062 12904062 C T SNP TLR7 ENST00000380659 human ensembl 74_37 +1 known silent c.435 p.G145 0.028 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 165 0 0 95 31 24.6032 MAP7D3 0 genome.wustl.edu 37 X 135328224 135328224 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 135328224 135328224 C T SNP MAP7D3 ENST00000370663 human ensembl 74_37 -1 known missense c.199 p.A67T 0.994 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 103 0 0 46 10 17.8571 ZIC3 0 genome.wustl.edu 37 X 136649822 136649822 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 136649822 136649822 C T SNP ZIC3 ENST00000287538 human ensembl 74_37 +1 known silent c.972 p.G324 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ENSG00000156925 295 0 0 160 57 26.2673 SOX3 0 genome.wustl.edu 37 X 139586357 139586357 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 139586357 139586357 G A SNP SOX3 ENST00000370536 human ensembl 74_37 -1 known missense c.869 p.P290L 1.000 NULL pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX3 HGNC ENSG00000134595 22 0 0 10 7 41.1765 SLITRK2 0 genome.wustl.edu 37 X 144905987 144905987 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 144905987 144905987 G A SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known missense c.2044 p.G682S 0.966 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 142 0 0 67 25 27.1739 GLRA2 0 genome.wustl.edu 37 X 14748344 14748344 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 14748344 14748344 C T SNP GLRA2 ENST00000218075 human ensembl 74_37 +1 known missense c.1096 p.R366C 1.000 superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_A2,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A2,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA2 HGNC ENSG00000101958 460 0 0 262 80 23.3918 AFF2 0 genome.wustl.edu 37 X 148059471 148059471 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 148059471 148059471 T C SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.3413 p.M1138T 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 208 0 0 116 34 22.6667 IDS 0 genome.wustl.edu 37 X 148585690 148585690 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 148585690 148585690 C T SNP IDS ENST00000340855 human ensembl 74_37 -1 known silent c.237 p.A79 0.324 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC ENSG00000010404 24 0 0 17 7 29.1667 PNMA3 0 genome.wustl.edu 37 X 152226687 152226687 + Silent SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 152226687 152226687 A G SNP PNMA3 ENST00000370264 human ensembl 74_37 +1 known silent c.1275 p.V425 0.000 superfamily_Znf_CCHC,pfscan_Znf_CCHC superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PNMA3 HGNC ENSG00000183837 329 0 0 181 62 25.5144 ZNF275 0 genome.wustl.edu 37 X 152612323 152612323 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 152612323 152612323 G A SNP ZNF275 ENST00000440091 human ensembl 74_37 +1 known silent c.270 p.Q90 0.629 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF275 HGNC ENSG00000063587 97 0 0 51 25 32.8947 ZNF275 0 genome.wustl.edu 37 X 152612855 152612855 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 152612855 152612855 G A SNP ZNF275 ENST00000440091 human ensembl 74_37 +1 known missense c.802 p.A268T 0.021 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF275 HGNC ENSG00000063587 189 0 0 111 37 25 SSR4 0 genome.wustl.edu 37 X 153059974 153059974 + RNA SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 153059974 153059974 G A SNP SSR4 ENST00000482902 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors SSR4 HGNC ENSG00000180879 15 0 0 5 6 54.5455 PDZD4 0 genome.wustl.edu 37 X 153095783 153095783 + RNA SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 153095783 153095783 C T SNP PDZD4 ENST00000480418 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PDZD4 HGNC ENSG00000067840 178 0 0 92 42 31.3433 FLNA 0 genome.wustl.edu 37 X 153578054 153578054 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 153578054 153578054 G A SNP FLNA ENST00000369850 human ensembl 74_37 -1 known silent c.7515 p.Y2505 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 83 0 0 52 25 32.4675 GDI1 0 genome.wustl.edu 37 X 153667454 153667454 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 153667454 153667454 T C SNP GDI1 ENST00000447750 human ensembl 74_37 +1 known missense c.356 p.V119A 1.000 pfam_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI1 HGNC ENSG00000203879 198 0 0 101 31 23.4848 PLXNA3 0 genome.wustl.edu 37 X 153688788 153688788 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 153688788 153688788 C T SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.265 p.R89C 0.998 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 52 0 0 36 12 25 DKC1 0 genome.wustl.edu 37 X 153996672 153996672 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 153996672 153996672 C A SNP DKC1 ENST00000369550 human ensembl 74_37 +1 known missense c.736 p.L246I 1.000 superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_PsdUridine_synth_B_fam pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_tRNA_PsdUridine_synth_B_fam,tigrfam_Uncharacterised_CHP00451 - no_errors DKC1 HGNC ENSG00000130826 242 0 0 113 42 27.0968 RAB39B 0 genome.wustl.edu 37 X 154490502 154490502 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 154490502 154490502 G A SNP RAB39B ENST00000369454 human ensembl 74_37 -1 known silent c.228 p.R76 0.011 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB39B HGNC ENSG00000155961 264 0 0 137 54 28.2723 SH3KBP1 0 genome.wustl.edu 37 X 19560113 19560113 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 19560113 19560113 C T SNP SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known missense c.1822 p.A608T 0.652 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 205 0 0 145 8 5.22876 SH3KBP1 0 genome.wustl.edu 37 X 19560254 19560254 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 19560254 19560254 C T SNP SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known missense c.1681 p.G561S 0.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 85 0 0 77 26 25.2427 RPS6KA3 0 genome.wustl.edu 37 X 20195138 20195138 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 20195138 20195138 T C SNP RPS6KA3 ENST00000379565 human ensembl 74_37 -1 known missense c.910 p.K304E 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA3 HGNC ENSG00000177189 114 0 0 75 21 21.875 KLHL34 0 genome.wustl.edu 37 X 21675899 21675899 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 21675899 21675899 T C SNP KLHL34 ENST00000379499 human ensembl 74_37 -1 known missense c.8 p.Y3C 1.000 superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin 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 KLHL34 HGNC ENSG00000185915 92 0 0 45 9 16.6667 ZNF645 0 genome.wustl.edu 37 X 22291397 22291397 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 22291397 22291397 C T SNP ZNF645 ENST00000323684 human ensembl 74_37 +1 known missense c.289 p.R97C 0.051 pfscan_Znf_RING pfscan_Znf_RING,pfscan_Znf_C2H2 - no_errors ZNF645 HGNC ENSG00000175809 116 0 0 62 31 33.3333 PTCHD1 0 genome.wustl.edu 37 X 23411097 23411097 + Missense_Mutation SNP A A G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 23411097 23411097 A G SNP PTCHD1 ENST00000379361 human ensembl 74_37 +1 known missense c.1462 p.K488E 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 220 0 0 127 48 27.4286 MAGEB10 0 genome.wustl.edu 37 X 27840405 27840405 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 27840405 27840405 G A SNP MAGEB10 ENST00000356790 human ensembl 74_37 +1 known missense c.982 p.V328I 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB10 HGNC ENSG00000177689 49 0 0 30 11 26.8293 NR0B1 0 genome.wustl.edu 37 X 30327182 30327182 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 30327182 30327182 G A SNP NR0B1 ENST00000378970 human ensembl 74_37 -1 known missense c.299 p.T100M 0.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B1 HGNC ENSG00000169297 81 0 0 44 21 32.3077 DMD 0 genome.wustl.edu 37 X 31496273 31496273 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 31496273 31496273 C T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.8887 p.V2963M 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 39 0 0 23 9 28.125 FAM47A 0 genome.wustl.edu 37 X 34148203 34148203 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 34148203 34148203 G A SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known silent c.2193 p.D731 0.012 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 156 0 0 76 29 27.619 TMEM47 0 genome.wustl.edu 37 X 34648577 34648577 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 34648577 34648577 G A SNP TMEM47 ENST00000275954 human ensembl 74_37 -1 known silent c.399 p.Y133 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors TMEM47 HGNC ENSG00000147027 69 0 0 43 20 31.746 RPGR 0 genome.wustl.edu 37 X 38128998 38128998 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 38128998 38128998 C A SNP RPGR ENST00000339363 human ensembl 74_37 -1 known missense c.2944 p.D982Y 0.877 superfamily_RCC1/BLIP-II pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 57 0 0 37 19 33.9286 UBA1 0 genome.wustl.edu 37 X 47060960 47060960 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 47060960 47060960 G T SNP UBA1 ENST00000335972 human ensembl 74_37 +1 known missense c.762 p.Q254H 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC ENSG00000130985 63 0 0 31 10 24.3902 ZNF182 0 genome.wustl.edu 37 X 47842802 47842802 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 47842802 47842802 T C SNP ZNF182 ENST00000305127 human ensembl 74_37 -1 known missense c.82 p.T28A 0.375 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF182 HGNC ENSG00000147118 135 0 0 60 23 27.7108 FTSJ1 0 genome.wustl.edu 37 X 48341409 48341409 + RNA SNP C C G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 48341409 48341409 C G SNP FTSJ1 ENST00000467954 human ensembl 74_37 +1 known rna NULL NULL 0.165 - - - no_errors FTSJ1 HGNC ENSG00000068438 71 0 0 49 10 16.9492 NUDT11 0 genome.wustl.edu 37 X 51239053 51239053 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 51239053 51239053 C T SNP NUDT11 ENST00000375992 human ensembl 74_37 -1 known missense c.244 p.V82I 0.179 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT11 HGNC ENSG00000196368 130 0 0 74 24 24.4898 GPR173 0 genome.wustl.edu 37 X 53106555 53106555 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 53106555 53106555 G A SNP GPR173 ENST00000332582 human ensembl 74_37 +1 known missense c.752 p.R251H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR173 HGNC ENSG00000184194 22 0 0 13 5 27.7778 PFKFB1 0 genome.wustl.edu 37 X 54978349 54978349 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 54978349 54978349 G A SNP PFKFB1 ENST00000375006 human ensembl 74_37 -1 known missense c.835 p.R279C 0.994 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB1 HGNC ENSG00000158571 16 0 0 11 5 31.25 RRAGB 0 genome.wustl.edu 37 X 55777621 55777621 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 55777621 55777621 C A SNP RRAGB ENST00000262850 human ensembl 74_37 +1 known missense c.688 p.L230I 1.000 pfam_Gtr1_RagA,superfamily_P-loop_NTPase pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase - no_errors RRAGB HGNC ENSG00000083750 30 0 0 15 9 37.5 ZXDA 0 genome.wustl.edu 37 X 57936148 57936148 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 57936148 57936148 G A SNP ZXDA ENST00000358697 human ensembl 74_37 -1 known missense c.707 p.A236V 0.015 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDA HGNC ENSG00000198205 27 0 0 14 6 30 NLGN4X 0 genome.wustl.edu 37 X 5821684 5821684 + Silent SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 5821684 5821684 G A SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known silent c.1095 p.D365 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 177 0 0 102 34 25 P2RY4 0 genome.wustl.edu 37 X 69478463 69478463 + Missense_Mutation SNP C C A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 69478463 69478463 C A SNP P2RY4 ENST00000374519 human ensembl 74_37 -1 known missense c.1012 p.V338L 0.994 prints_P2Y4_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt,prints_GPCR_Rhodpsn,prints_P2Y2_rcpt - no_errors P2RY4 HGNC ENSG00000186912 87 0 0 45 10 18.1818 MED12 0 genome.wustl.edu 37 X 70341237 70341237 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 70341237 70341237 C T SNP MED12 ENST00000333646 human ensembl 74_37 +1 known missense c.796 p.R266C 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 168 0 0 87 33 27.5 TAF1 0 genome.wustl.edu 37 X 70586333 70586333 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 70586333 70586333 G A SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.169 p.V57I 1.000 pirsf_TAF1_animal,pfam_TAF_II_230-bd,superfamily_TAF_II_230-bd pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 36 0 0 18 5 21.7391 OGT 0 genome.wustl.edu 37 X 70787390 70787390 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 70787390 70787390 G A SNP OGT ENST00000373719 human ensembl 74_37 +1 known missense c.2630 p.R877H 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC ENSG00000147162 85 0 0 47 15 24.1935 RGAG4 0 genome.wustl.edu 37 X 71349880 71349880 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 71349880 71349880 C T SNP RGAG4 ENST00000479991 human ensembl 74_37 -1 known missense c.1511 p.S504N 0.224 NULL pfam_Retrotrans_gag_dom - no_errors RGAG4 HGNC ENSG00000242732 63 0 0 33 11 25 NHSL2 0 genome.wustl.edu 37 X 71358762 71358762 + Missense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 71358762 71358762 C T SNP NHSL2 ENST00000540800 human ensembl 74_37 +1 known missense c.1364 p.A455V 0.022 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 41 0 0 17 5 22.7273 HDAC8 0 genome.wustl.edu 37 X 71549549 71549549 + Silent SNP T T G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 71549549 71549549 T G SNP HDAC8 ENST00000373583 human ensembl 74_37 -1 putative silent c.175 p.R59 0.000 NULL NULL - no_errors HDAC8 HGNC ENSG00000147099 14 0 0 7 3 30 PHKA1 0 genome.wustl.edu 37 X 71873292 71873292 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 71873292 71873292 G A SNP PHKA1 ENST00000373539 human ensembl 74_37 -1 known missense c.1130 p.P377L 0.995 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 30 0 0 14 10 41.6667 STS 0 genome.wustl.edu 37 X 7268249 7268249 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 7268249 7268249 G A SNP STS ENST00000217961 human ensembl 74_37 +1 known missense c.1699 p.G567S 0.000 superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors STS HGNC ENSG00000101846 48 0 0 26 11 29.7297 KIAA2022 0 genome.wustl.edu 37 X 73963374 73963374 + Missense_Mutation SNP T T C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 73963374 73963374 T C SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.1018 p.S340G 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 111 0 0 53 23 30.2632 POU3F4 0 genome.wustl.edu 37 X 82763850 82763850 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 82763850 82763850 G A SNP POU3F4 ENST00000373200 human ensembl 74_37 +1 known missense c.518 p.G173D 0.970 pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F4 HGNC ENSG00000196767 31 0 0 16 8 33.3333 KAL1 0 genome.wustl.edu 37 X 8504931 8504931 + Missense_Mutation SNP G G A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 8504931 8504931 G A SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known missense c.1502 p.T501I 0.963 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 45 0 0 16 5 23.8095 CHM 0 genome.wustl.edu 37 X 85211332 85211332 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 85211332 85211332 G T SNP CHM ENST00000357749 human ensembl 74_37 -1 known missense c.992 p.P331H 1.000 pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 49 0 0 32 7 17.9487 CPXCR1 0 genome.wustl.edu 37 X 88008656 88008656 + Nonsense_Mutation SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 88008656 88008656 C T SNP CPXCR1 ENST00000276127 human ensembl 74_37 +1 known nonsense c.241 p.R81* 0.001 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC ENSG00000147183 45 0 0 13 4 23.5294 PABPC5 0 genome.wustl.edu 37 X 90691323 90691323 + Silent SNP C C T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 90691323 90691323 C T SNP PABPC5 ENST00000312600 human ensembl 74_37 +1 known silent c.747 p.H249 0.881 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 144 0 0 84 17 16.8317 SYTL4 0 genome.wustl.edu 37 X 99931117 99931117 + Missense_Mutation SNP G G T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 99931117 99931117 G T SNP SYTL4 ENST00000454200 human ensembl 74_37 -1 known missense c.1930 p.L644M 1.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,prints_Synaptotagmin - no_errors SYTL4 HGNC ENSG00000102362 98 0 0 67 26 27.957 WDR47 0 genome.wustl.edu 37 1 109547218 109547218 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 109547218 109547218 T - DEL WDR47 ENST00000400794 human ensembl 74_37 -1 known frame_shift_del c.1274 p.N425fs 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 123 0 0 62 17 21.519 WDR77 0 genome.wustl.edu 37 1 111991767 111991767 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 111991767 111991767 G - DEL WDR77 ENST00000235090 human ensembl 74_37 -1 known frame_shift_del c.25 p.L9fs 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR77 HGNC ENSG00000116455 23 0 0 11 2 15.3846 MTMR11 0 genome.wustl.edu 37 1 149900796 149900796 + RNA DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 149900796 149900796 A - DEL MTMR11 ENST00000466496 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors MTMR11 HGNC ENSG00000014914 61 0 0 33 6 15.3846 MTMR11 0 genome.wustl.edu 37 1 149901010 149901011 + RNA DEL AG AG - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 149901010 149901011 AG - DEL MTMR11 ENST00000466496 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MTMR11 HGNC ENSG00000014914 86 0 0 57 5 8.06452 SNX27 0 genome.wustl.edu 37 1 151584935 151584936 + Frame_Shift_Ins INS - - G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 151584935 151584936 - G INS SNX27 ENST00000368843 human ensembl 74_37 +1 known frame_shift_ins c.258_259 p.A88fs 1.000:1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX27 HGNC ENSG00000143376 22 0 0 20 6 23.0769 NUP210L 0 genome.wustl.edu 37 1 154067526 154067526 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 154067526 154067526 A - DEL NUP210L ENST00000368559 human ensembl 74_37 -1 known frame_shift_del c.2072 p.L691fs 0.995 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 63 0 0 40 8 16.6667 TPM3 0 genome.wustl.edu 37 1 154143243 154143243 + RNA DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 154143243 154143243 C - DEL TPM3 ENST00000469717 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TPM3 HGNC ENSG00000143549 33 0 0 20 10 33.3333 PYGO2 0 genome.wustl.edu 37 1 154932027 154932028 + Frame_Shift_Ins INS - - G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 154932027 154932028 - G INS PYGO2 ENST00000368457 human ensembl 74_37 -1 known frame_shift_ins c.449_448 p.Q150fs 1.000:0.997 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO2 HGNC ENSG00000163348 135 0 0 103 6 5.50459 EFNA3 0 genome.wustl.edu 37 1 155059036 155059036 + RNA DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 155059036 155059036 G - DEL EFNA3 ENST00000470294 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EFNA3 HGNC ENSG00000143590 126 0 0 76 22 22.449 TMEM79 0 genome.wustl.edu 37 1 156262733 156262733 + RNA DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 156262733 156262733 G - DEL TMEM79 ENST00000485135 human ensembl 74_37 +1 known rna NULL NULL 0.029 - - - no_errors TMEM79 HGNC ENSG00000163472 31 0 0 20 9 31.0345 ISG20L2 0 genome.wustl.edu 37 1 156694022 156694023 + Frame_Shift_Ins INS - - G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 156694022 156694023 - G INS ISG20L2 ENST00000313146 human ensembl 74_37 -1 known frame_shift_ins c.866_865 p.L289fs 1.000:0.997 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ISG20L2 HGNC ENSG00000143319 179 1 0.555556 115 24 17.2662 VANGL2 0 genome.wustl.edu 37 1 160388802 160388802 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 160388802 160388802 G - DEL VANGL2 ENST00000368061 human ensembl 74_37 +1 known frame_shift_del c.203 p.E70fs 1.000 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 198 0 0 112 19 14.5038 EPHA2 0 genome.wustl.edu 37 1 16462199 16462199 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 16462199 16462199 G - DEL EPHA2 ENST00000358432 human ensembl 74_37 -1 known frame_shift_del c.1379 p.P460fs 0.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 123 1 0.806452 85 11 11.4583 SLC19A2 0 genome.wustl.edu 37 1 169446809 169446809 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 169446809 169446809 A - DEL SLC19A2 ENST00000236137 human ensembl 74_37 -1 known frame_shift_del c.391 p.Y131fs 1.000 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier - no_errors SLC19A2 HGNC ENSG00000117479 132 0 0 75 20 21.0526 RCC2 0 genome.wustl.edu 37 1 17739612 17739614 + In_Frame_Del DEL CTG CTG - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 17739612 17739614 CTG - DEL RCC2 ENST00000375433 human ensembl 74_37 -1 known in_frame_del c.1270_1268 p.A423in_frame_del 1.000:0.994:1.000 superfamily_RCC1/BLIP-II pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens - no_errors RCC2 HGNC ENSG00000179051 50 0 0 39 16 29.0909 CEP350 0 genome.wustl.edu 37 1 180064806 180064806 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 180064806 180064806 A - DEL CEP350 ENST00000367607 human ensembl 74_37 +1 known frame_shift_del c.8660 p.N2889fs 0.152 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 70 0 0 52 10 16.129 SHCBP1L 0 genome.wustl.edu 37 1 182908531 182908531 + Splice_Site DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 182908531 182908531 T - DEL SHCBP1L ENST00000367547 human ensembl 74_37 -1 known splice_site_del c.858-2 e5-2 0.998 - - - no_errors SHCBP1L HGNC ENSG00000157060 43 0 0 23 3 11.5385 TSEN15 0 genome.wustl.edu 37 1 184023967 184023967 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 184023967 184023967 C - DEL TSEN15 ENST00000361641 human ensembl 74_37 +1 known frame_shift_del c.323 p.I110fs 0.804 pfam_tRNA-endonuc_su_Sen15 pfam_tRNA-endonuc_su_Sen15 - no_errors TSEN15 HGNC ENSG00000198860 24 0 0 11 3 21.4286 GABRD 0 genome.wustl.edu 37 1 1961598 1961598 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 1961598 1961598 G - DEL GABRD ENST00000378585 human ensembl 74_37 +1 known frame_shift_del c.1236 p.G414fs 0.000 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC ENSG00000187730 196 0 0 123 29 19.0789 ASPM 0 genome.wustl.edu 37 1 197072396 197072396 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 197072396 197072396 T - DEL ASPM ENST00000367409 human ensembl 74_37 -1 known frame_shift_del c.5985 p.A1996fs 0.192 superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 122 0 0 57 19 25 NEK7 0 genome.wustl.edu 37 1 198222297 198222298 + Frame_Shift_Ins INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 198222297 198222298 - A INS NEK7 ENST00000367385 human ensembl 74_37 +1 known frame_shift_ins c.185_186 p.V65fs 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK7 HGNC ENSG00000151414 93 0 0 65 17 20.7317 LMOD1 0 genome.wustl.edu 37 1 201869807 201869808 + Frame_Shift_Ins INS - - T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 201869807 201869808 - T INS LMOD1 ENST00000367288 human ensembl 74_37 -1 known frame_shift_ins c.334_333 p.A111fs 0.000:0.004 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 142 0 0 110 16 12.6984 KDM5B 0 genome.wustl.edu 37 1 202704625 202704625 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 202704625 202704625 T - DEL KDM5B ENST00000367264 human ensembl 74_37 -1 known frame_shift_del c.3463 p.S1155fs 0.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 104 0 0 67 20 22.9885 REN 0 genome.wustl.edu 37 1 204124957 204124958 + Frame_Shift_Del DEL AT AT - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 204124957 204124958 AT - DEL REN ENST00000272190 human ensembl 74_37 -1 known frame_shift_del c.1050_1049 p.Y350fs 0.983:1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors REN HGNC ENSG00000143839 27 0 0 30 10 25 IKBKE 0 genome.wustl.edu 37 1 206647728 206647728 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 206647728 206647728 C - DEL IKBKE ENST00000367120 human ensembl 74_37 +1 known frame_shift_del c.142 p.R49fs 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 IKBKE HGNC ENSG00000143466 79 0 0 57 12 17.3913 CR2 0 genome.wustl.edu 37 1 207642044 207642044 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 207642044 207642044 C - DEL CR2 ENST00000367057 human ensembl 74_37 +1 known frame_shift_del c.618 p.T209fs 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 178 1 0.558659 84 48 36.3636 KCNH1 0 genome.wustl.edu 37 1 210857113 210857113 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 210857113 210857113 C - DEL KCNH1 ENST00000271751 human ensembl 74_37 -1 known frame_shift_del c.2480 p.G827fs 0.014 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 158 0 0 96 19 16.5217 PTPN14 0 genome.wustl.edu 37 1 214556665 214556666 + Frame_Shift_Del DEL TC TC - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 214556665 214556666 TC - DEL PTPN14 ENST00000366956 human ensembl 74_37 -1 known frame_shift_del c.2533_2532 p.E844fs 1.000:1.000 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 91 0 0 66 16 19.5122 IARS2 0 genome.wustl.edu 37 1 220311241 220311241 + RNA DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 220311241 220311241 T - DEL IARS2 ENST00000488777 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IARS2 HGNC ENSG00000067704 45 0 0 34 13 27.6596 TP53BP2 0 genome.wustl.edu 37 1 223971921 223971923 + In_Frame_Del DEL CTT CTT - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 223971921 223971923 CTT - DEL TP53BP2 ENST00000343537 human ensembl 74_37 -1 known in_frame_del c.3259_3257 p.E1086in_frame_del 1.000:1.000:1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 151 0 0 109 25 18.6567 ADCK3 0 genome.wustl.edu 37 1 227152946 227152947 + Frame_Shift_Ins INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 227152946 227152947 - A INS ADCK3 ENST00000366777 human ensembl 74_37 +1 known frame_shift_ins c.423_424 p.N141fs 0.000:0.000 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK3 HGNC ENSG00000163050 54 0 0 28 11 28.2051 SPRTN 0 genome.wustl.edu 37 1 231487256 231487256 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 231487256 231487256 A - DEL SPRTN ENST00000295050 human ensembl 74_37 +1 known frame_shift_del c.657 p.G222fs 0.002 NULL pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put - no_errors SPRTN HGNC ENSG00000010072 106 1 0.934579 56 25 30.8642 EPHB2 0 genome.wustl.edu 37 1 23240246 23240246 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 23240246 23240246 A - DEL EPHB2 ENST00000400191 human ensembl 74_37 +1 known frame_shift_del c.3051 p.K1020fs 0.270 NULL pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 19 0 0 16 6 27.2727 ENSG00000228830 0 genome.wustl.edu 37 1 234742799 234742800 + RNA INS - - AT TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 234742799 234742800 - AT INS ENSG00000228830 ENST00000436039 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors RP4-781K5.2 Clone_based_vega_gene ENSG00000228830 33 0 0 19 8 29.6296 RYR2 0 genome.wustl.edu 37 1 237540677 237540677 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 237540677 237540677 A - DEL RYR2 ENST00000360064 human ensembl 74_37 +1 known frame_shift_del c.512 p.V173fs 1.000 pfam_Ins145_P3_rcpt,superfamily_MIR_motif,smart_MIR_motif,prints_Ryan_recept pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 82 0 0 37 13 26 CHRM3 0 genome.wustl.edu 37 1 240072444 240072444 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 240072444 240072444 A - DEL CHRM3 ENST00000255380 human ensembl 74_37 +1 known frame_shift_del c.1693 p.K567fs 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 90 0 0 69 17 19.7674 SDCCAG8 0 genome.wustl.edu 37 1 243456462 243456462 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 243456462 243456462 T - DEL SDCCAG8 ENST00000366541 human ensembl 74_37 +1 known frame_shift_del c.616 p.S207fs 0.009 NULL NULL - no_errors SDCCAG8 HGNC ENSG00000054282 125 0 0 78 14 15.2174 ZNF124 0 genome.wustl.edu 37 1 247319909 247319909 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 247319909 247319909 T - DEL ZNF124 ENST00000543802 human ensembl 74_37 -1 known frame_shift_del c.1015 p.T339fs 0.935 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF124 HGNC ENSG00000196418 45 0 0 52 9 14.7541 SH3BP5L 0 genome.wustl.edu 37 1 249119229 249119231 + RNA DEL AGG AGG - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 249119229 249119231 AGG - DEL SH3BP5L ENST00000475978 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.003:0.007 - - - no_errors SH3BP5L HGNC ENSG00000175137 24 0 0 15 3 16.6667 ARID1A 0 genome.wustl.edu 37 1 27100175 27100176 + Frame_Shift_Ins INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 27100175 27100176 - C INS ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_ins c.3971_3972 p.Q1327fs 1.000:1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 201 0 0 109 31 22.1429 ARID1A 0 genome.wustl.edu 37 1 27106804 27106804 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 27106804 27106804 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.6415 p.F2141fs 0.999 pfam_DUF3518,superfamily_ARM-type_fold pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 216 0 0 140 45 24.3243 GPN2 0 genome.wustl.edu 37 1 27216284 27216284 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 27216284 27216284 G - DEL GPN2 ENST00000374135 human ensembl 74_37 -1 known frame_shift_del c.304 p.L102fs 0.989 pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase - no_errors GPN2 HGNC ENSG00000142751 139 0 0 103 26 20.155 STX12 0 genome.wustl.edu 37 1 28128196 28128197 + Frame_Shift_Del DEL AG AG - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 28128196 28128197 AG - DEL STX12 ENST00000373943 human ensembl 74_37 +1 known frame_shift_del c.296_297 p.R100fs 1.000:1.000 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX12 HGNC ENSG00000117758 57 0 0 33 12 26.6667 PTP4A2 0 genome.wustl.edu 37 1 32384717 32384717 + RNA DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 32384717 32384717 A - DEL PTP4A2 ENST00000532289 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTP4A2 HGNC ENSG00000184007 17 0 0 15 3 16.6667 YARS 0 genome.wustl.edu 37 1 33245834 33245834 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 33245834 33245834 C - DEL YARS ENST00000373477 human ensembl 74_37 -1 known frame_shift_del c.1186 p.E396fs 1.000 pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,pfscan_tRNA-bd_dom pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,prints_Tyr-tRNA-ligase,pfscan_tRNA-bd_dom,tigrfam_Tyr-tRNA-ligase - no_errors YARS HGNC ENSG00000134684 319 0 0 172 46 21.1009 ENSG00000271554 0 genome.wustl.edu 37 1 36475027 36475027 + RNA DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 36475027 36475027 A - DEL ENSG00000271554 ENST00000479395 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors RP4-665N4.8 Clone_based_vega_gene ENSG00000271554 33 0 0 36 11 23.4043 MYCL 0 genome.wustl.edu 37 1 40366986 40366987 + Frame_Shift_Ins INS - - G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 40366986 40366987 - G INS MYCL ENST00000372816 human ensembl 74_37 -1 known frame_shift_ins c.121_120 p.T40fs 1.000:1.000 pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCL HGNC ENSG00000116990 22 0 0 16 4 20 CTPS1 0 genome.wustl.edu 37 1 41462979 41462979 + RNA DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 41462979 41462979 T - DEL CTPS1 ENST00000486889 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors CTPS1 HGNC ENSG00000171793 41 0 0 26 5 16.129 SZT2 0 genome.wustl.edu 37 1 43896326 43896327 + Frame_Shift_Ins INS - - G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 43896326 43896327 - G INS SZT2 ENST00000562955 human ensembl 74_37 +1 known frame_shift_ins c.4469_4470 p.D1493fs 1.000:1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 255 0 0 181 41 18.4685 CYP4Z1 0 genome.wustl.edu 37 1 47581140 47581140 + RNA DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 47581140 47581140 A - DEL CYP4Z1 ENST00000471598 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors CYP4Z1 HGNC ENSG00000186160 22 0 0 3 8 72.7273 PODN 0 genome.wustl.edu 37 1 53543377 53543377 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 53543377 53543377 C - DEL PODN ENST00000312553 human ensembl 74_37 +1 known frame_shift_del c.903 p.P303fs 0.997 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors PODN HGNC ENSG00000174348 306 0 0 223 43 16.1654 INADL 0 genome.wustl.edu 37 1 62253579 62253580 + Frame_Shift_Ins INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 62253579 62253580 - C INS INADL ENST00000371158 human ensembl 74_37 +1 known frame_shift_ins c.1003_1004 p.A338fs 0.037:0.133 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 112 0 0 75 11 12.7907 LRRIQ3 0 genome.wustl.edu 37 1 74575213 74575213 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 74575213 74575213 T - DEL LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known frame_shift_del c.732 p.K244fs 0.004 pfscan_IQ_motif_EF-hand-BS pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 83 0 0 51 18 26.087 GBP3 0 genome.wustl.edu 37 1 89473442 89473442 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 89473442 89473442 T - DEL GBP3 ENST00000370481 human ensembl 74_37 -1 known frame_shift_del c.1753 p.T585fs 0.000 NULL pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP3 HGNC ENSG00000117226 165 0 0 95 16 14.4144 TGFBR3 0 genome.wustl.edu 37 1 92224226 92224226 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 1 92224226 92224226 G - DEL TGFBR3 ENST00000212355 human ensembl 74_37 -1 known frame_shift_del c.328 p.L110fs 0.997 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC ENSG00000069702 147 0 0 87 29 25 BTRC 0 genome.wustl.edu 37 10 103310572 103310573 + Frame_Shift_Ins INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 103310572 103310573 - C INS BTRC ENST00000370187 human ensembl 74_37 +1 known frame_shift_ins c.1773_1774 p.R593fs 0.998:1.000 NULL pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors BTRC HGNC ENSG00000166167 115 0 0 72 21 22.5806 C10orf76 0 genome.wustl.edu 37 10 103649305 103649306 + RNA INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 103649305 103649306 - A INS C10orf76 ENST00000495001 human ensembl 74_37 -1 known rna NULL NULL 0.231:0.054 - - - no_errors C10orf76 HGNC ENSG00000120029 90 0 0 56 13 18.8406 PRDX3 0 genome.wustl.edu 37 10 120934108 120934108 + RNA DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 120934108 120934108 A - DEL PRDX3 ENST00000463322 human ensembl 74_37 -1 known rna NULL NULL 0.384 - - - no_errors PRDX3 HGNC ENSG00000165672 48 0 0 23 12 34.2857 ANKRD26 0 genome.wustl.edu 37 10 27322259 27322259 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 27322259 27322259 T - DEL ANKRD26 ENST00000436985 human ensembl 74_37 -1 known frame_shift_del c.3750 p.K1250fs 0.005 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 79 0 0 42 8 16 CUL2 0 genome.wustl.edu 37 10 35351915 35351916 + Frame_Shift_Ins INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 35351915 35351916 - A INS CUL2 ENST00000537177 human ensembl 74_37 -1 known frame_shift_ins c.252_251 p.L84fs 1.000:1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL2 HGNC ENSG00000108094 60 0 0 35 9 20.4545 ZNF239 0 genome.wustl.edu 37 10 44053545 44053547 + RNA DEL AGG AGG - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 44053545 44053547 AGG - DEL ZNF239 ENST00000491188 human ensembl 74_37 -1 known rna NULL NULL 0.019:0.002:0.000 - - - no_errors ZNF239 HGNC ENSG00000196793 20 0 0 10 3 23.0769 MAPK8 0 genome.wustl.edu 37 10 49643087 49643087 + RNA DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 49643087 49643087 G - DEL MAPK8 ENST00000459755 human ensembl 74_37 +1 known rna NULL NULL 0.531 - - - no_errors MAPK8 HGNC ENSG00000107643 171 0 0 70 30 30 ANK3 0 genome.wustl.edu 37 10 62149221 62149221 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 62149221 62149221 T - DEL ANK3 ENST00000280772 human ensembl 74_37 -1 known frame_shift_del c.76 p.R26fs 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 118 0 0 57 19 25 HNRNPH3 0 genome.wustl.edu 37 10 70101327 70101328 + RNA INS - - T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 70101327 70101328 - T INS HNRNPH3 ENST00000478698 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors HNRNPH3 HGNC ENSG00000096746 41 0 0 24 5 17.2414 H2AFY2 0 genome.wustl.edu 37 10 71851665 71851665 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 71851665 71851665 G - DEL H2AFY2 ENST00000373255 human ensembl 74_37 +1 known frame_shift_del c.432 p.K147fs 1.000 pirsf_Core_histone_macro-H2A pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom,prints_Histone_H2A - no_errors H2AFY2 HGNC ENSG00000099284 107 0 0 65 17 20.7317 CHST3 0 genome.wustl.edu 37 10 73767317 73767317 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 73767317 73767317 G - DEL CHST3 ENST00000373115 human ensembl 74_37 +1 known frame_shift_del c.528 p.G178fs 0.047 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 57 0 0 26 5 16.129 USP54 0 genome.wustl.edu 37 10 75335385 75335385 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 75335385 75335385 C - DEL USP54 ENST00000339859 human ensembl 74_37 -1 known frame_shift_del c.32 p.G11fs 0.998 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 126 0 0 106 13 10.9244 STAMBPL1 0 genome.wustl.edu 37 10 90682146 90682146 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 90682146 90682146 A - DEL STAMBPL1 ENST00000371927 human ensembl 74_37 +1 known frame_shift_del c.1207 p.K405fs 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBPL1 HGNC ENSG00000138134 82 0 0 34 22 39.2857 LGI1 0 genome.wustl.edu 37 10 95552602 95552602 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 10 95552602 95552602 C - DEL LGI1 ENST00000371418 human ensembl 74_37 +1 known frame_shift_del c.606 p.P204fs 0.995 smart_Cys-rich_flank_reg_C pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI1 HGNC ENSG00000108231 216 0 0 137 42 23.4637 MUC6 0 genome.wustl.edu 37 11 1017323 1017324 + Frame_Shift_Del DEL AT AT - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 1017323 1017324 AT - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known frame_shift_del c.5478_5477 p.Y1826fs 0.000:0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 1856 0 0 1490 81 5.15595 ATM 0 genome.wustl.edu 37 11 108159786 108159786 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 108159786 108159786 A - DEL ATM ENST00000278616 human ensembl 74_37 +1 known frame_shift_del c.4192 p.T1399fs 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 48 0 0 29 9 23.6842 DDX10 0 genome.wustl.edu 37 11 108544239 108544239 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 108544239 108544239 A - DEL DDX10 ENST00000322536 human ensembl 74_37 +1 known frame_shift_del c.232 p.T80fs 0.988 pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX10 HGNC ENSG00000178105 50 0 0 28 7 20 USP28 0 genome.wustl.edu 37 11 113700091 113700091 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 113700091 113700091 A - DEL USP28 ENST00000544967 human ensembl 74_37 -1 putative frame_shift_del c.11 p.L4fs 0.003 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 44 0 0 25 7 21.875 CEP164 0 genome.wustl.edu 37 11 117261750 117261751 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 117261750 117261751 AA - DEL CEP164 ENST00000278935 human ensembl 74_37 +1 known frame_shift_del c.2102_2103 p.E701fs 1.000:0.986 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 237 0 0 153 28 15.4696 CCDC15 0 genome.wustl.edu 37 11 124845049 124845049 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 124845049 124845049 A - DEL CCDC15 ENST00000344762 human ensembl 74_37 +1 known frame_shift_del c.574 p.K194fs 0.000 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 36 0 0 27 5 15.625 BRSK2 0 genome.wustl.edu 37 11 1478186 1478187 + Frame_Shift_Ins INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 1478186 1478187 - C INS BRSK2 ENST00000308230 human ensembl 74_37 +1 known frame_shift_ins c.2007_2008 p.P672fs 0.999:0.998 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 BRSK2 HGNC ENSG00000174672 49 0 0 30 9 23.0769 KCNA4 0 genome.wustl.edu 37 11 30032940 30032940 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 30032940 30032940 C - DEL KCNA4 ENST00000328224 human ensembl 74_37 -1 known frame_shift_del c.1286 p.G429fs 1.000 pfam_Ion_trans_dom pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 116 0 0 95 17 15.1786 TCP11L1 0 genome.wustl.edu 37 11 33087372 33087375 + Splice_Site DEL ACAG ACAG - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 ACAG ACAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 33087372 33087375 ACAG - DEL TCP11L1 ENST00000527661 human ensembl 74_37 +1 known splice_site_del c.973-4_973-1 e7-1 0.000:0.536:1.000:1.000 - - - no_errors TCP11L1 HGNC ENSG00000176148 298 0 0 194 36 15.6522 DGKZ 0 genome.wustl.edu 37 11 46394213 46394213 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 46394213 46394213 G - DEL DGKZ ENST00000454345 human ensembl 74_37 +1 known frame_shift_del c.1621 p.G542fs 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKZ HGNC ENSG00000149091 65 0 0 59 15 20.2703 ARFGAP2 0 genome.wustl.edu 37 11 47196853 47196853 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 47196853 47196853 A - DEL ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known frame_shift_del c.276 p.R93fs 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 168 1 0.591716 111 38 25.5034 ENSG00000254815 0 genome.wustl.edu 37 11 558069 558069 + RNA DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 558069 558069 G - DEL ENSG00000254815 ENST00000527620 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-496I9.1 Clone_based_vega_gene ENSG00000254815 84 0 0 57 12 17.3913 RTN4RL2 0 genome.wustl.edu 37 11 57244232 57244233 + Frame_Shift_Ins INS - - G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 57244232 57244233 - G INS RTN4RL2 ENST00000335099 human ensembl 74_37 +1 known frame_shift_ins c.1111_1112 p.Y374fs 0.998:1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL2 HGNC ENSG00000186907 26 0 0 21 5 19.2308 EML3 0 genome.wustl.edu 37 11 62378802 62378802 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 62378802 62378802 G - DEL EML3 ENST00000529309 human ensembl 74_37 -1 known frame_shift_del c.209 p.P70fs 1.000 NULL pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 82 0 0 45 9 16.6667 ROM1 0 genome.wustl.edu 37 11 62381084 62381084 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 62381084 62381084 G - DEL ROM1 ENST00000278833 human ensembl 74_37 +1 known frame_shift_del c.331 p.L114fs 0.023 pfam_Tetraspanin/Peripherin,prints_Peripherin/rom-1 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors ROM1 HGNC ENSG00000149489 71 0 0 45 13 22.4138 RARRES3 0 genome.wustl.edu 37 11 63313709 63313709 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 63313709 63313709 A - DEL RARRES3 ENST00000255688 human ensembl 74_37 +1 known frame_shift_del c.476 p.A162fs 0.001 NULL pfam_LRAT-like_dom - no_errors RARRES3 HGNC ENSG00000133321 315 2 0.630915 171 48 21.9178 CDC42EP2 0 genome.wustl.edu 37 11 65088586 65088586 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 65088586 65088586 C - DEL CDC42EP2 ENST00000279249 human ensembl 74_37 +1 known frame_shift_del c.217 p.P73fs 0.000 pfam_CRIB_dom,pirsf_Cdc42_effector_prot_2 pfam_CRIB_dom,smart_CRIB_dom,pirsf_Cdc42_effector_prot_2,pfscan_CRIB_dom - no_errors CDC42EP2 HGNC ENSG00000149798 113 0 0 82 20 19.6078 MALAT1 0 genome.wustl.edu 37 11 65269898 65269898 + RNA DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 65269898 65269898 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors MALAT1 HGNC ENSG00000251562 19 0 0 9 3 25 LTBP3 0 genome.wustl.edu 37 11 65314282 65314283 + Frame_Shift_Ins INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 65314282 65314283 - C INS LTBP3 ENST00000301873 human ensembl 74_37 -1 known frame_shift_ins c.2217_2216 p.G740fs 1.000:1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 90 0 0 46 15 24.5902 DNHD1 0 genome.wustl.edu 37 11 6590002 6590002 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 6590002 6590002 C - DEL DNHD1 ENST00000254579 human ensembl 74_37 +1 known frame_shift_del c.12769 p.T4259fs 0.122 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 37 0 0 25 9 26.4706 KLC2 0 genome.wustl.edu 37 11 66033664 66033664 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 66033664 66033664 C - DEL KLC2 ENST00000316924 human ensembl 74_37 +1 known frame_shift_del c.1703 p.Q570fs 0.984 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KLC2 HGNC ENSG00000174996 91 0 0 65 22 25.2874 ENSG00000245156 0 genome.wustl.edu 37 11 66039391 66039391 + RNA DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 66039391 66039391 G - DEL ENSG00000245156 ENST00000501708 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors RP11-867G23.3 Clone_based_vega_gene ENSG00000245156 60 0 0 38 14 26.9231 RSF1 0 genome.wustl.edu 37 11 77413116 77413116 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 77413116 77413116 T - DEL RSF1 ENST00000308488 human ensembl 74_37 -1 known frame_shift_del c.1158 p.K386fs 0.995 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 66 0 0 58 19 24.6753 NDUFC2 0 genome.wustl.edu 37 11 77784147 77784148 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 77784147 77784148 AA - DEL NDUFC2 ENST00000281031 human ensembl 74_37 -1 known frame_shift_del c.207_206 p.F69fs 0.809:0.834 pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su - no_errors NDUFC2 HGNC ENSG00000151366 101 0 0 74 21 22.1053 SYTL2 0 genome.wustl.edu 37 11 85435356 85435356 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 85435356 85435356 G - DEL SYTL2 ENST00000359152 human ensembl 74_37 -1 known frame_shift_del c.3716 p.P1239fs 0.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 130 1 0.763359 103 16 13.4454 MRE11A 0 genome.wustl.edu 37 11 94189473 94189473 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 11 94189473 94189473 T - DEL MRE11A ENST00000323929 human ensembl 74_37 -1 known frame_shift_del c.1532 p.N511fs 0.998 pirsf_DNA_repair_Mre11 pfam_Mre11_DNA-bd,pfam_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 - no_errors MRE11A HGNC ENSG00000020922 45 0 0 33 7 17.5 HCFC2 0 genome.wustl.edu 37 12 104476535 104476535 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 104476535 104476535 A - DEL HCFC2 ENST00000229330 human ensembl 74_37 +1 known frame_shift_del c.919 p.N309fs 1.000 NULL pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 99 0 0 84 14 14.2857 BTBD11 0 genome.wustl.edu 37 12 108051381 108051381 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 108051381 108051381 G - DEL BTBD11 ENST00000280758 human ensembl 74_37 +1 known frame_shift_del c.3201 p.Y1068fs 0.890 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 114 0 0 93 10 9.70874 TCHP 0 genome.wustl.edu 37 12 110344435 110344435 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 110344435 110344435 A - DEL TCHP ENST00000312777 human ensembl 74_37 +1 known frame_shift_del c.515 p.K174fs 1.000 NULL NULL - no_errors TCHP HGNC ENSG00000139437 82 0 0 68 6 8.10811 TAS2R14 0 genome.wustl.edu 37 12 11090836 11090836 + RNA DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 11090836 11090836 T - DEL TAS2R14 ENST00000381852 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TAS2R14 HGNC ENSG00000212127 36 0 0 13 22 62.8571 ATXN2 0 genome.wustl.edu 37 12 111907939 111907939 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 111907939 111907939 C - DEL ATXN2 ENST00000377617 human ensembl 74_37 -1 known frame_shift_del c.3289 p.A1097fs 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 131 0 0 83 35 29.661 NAA25 0 genome.wustl.edu 37 12 112485490 112485490 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 112485490 112485490 A - DEL NAA25 ENST00000261745 human ensembl 74_37 -1 known frame_shift_del c.1985 p.F662fs 1.000 NULL pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 217 1 0.458716 190 32 14.4144 HECTD4 0 genome.wustl.edu 37 12 112690349 112690349 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 112690349 112690349 G - DEL HECTD4 ENST00000377560 human ensembl 74_37 -1 known frame_shift_del c.2915 p.P972fs 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 90 0 0 67 35 34.3137 PXN 0 genome.wustl.edu 37 12 120662036 120662036 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 120662036 120662036 G - DEL PXN ENST00000267257 human ensembl 74_37 -1 known frame_shift_del c.158 p.P53fs 1.000 prints_Paxillin pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin - no_errors PXN HGNC ENSG00000089159 47 0 0 29 18 38.2979 KDM2B 0 genome.wustl.edu 37 12 122018740 122018740 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 122018740 122018740 T - DEL KDM2B ENST00000377071 human ensembl 74_37 -1 known frame_shift_del c.77 p.K26fs 0.013 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 144 0 0 109 23 17.4242 VPS37B 0 genome.wustl.edu 37 12 123351891 123351892 + Frame_Shift_Ins INS - - G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 123351891 123351892 - G INS VPS37B ENST00000267202 human ensembl 74_37 -1 known frame_shift_ins c.630_629 p.P211fs 0.006:0.609 NULL pfam_Mod_r - no_errors VPS37B HGNC ENSG00000139722 40 0 0 31 11 26.1905 DNAH10 0 genome.wustl.edu 37 12 124274576 124274577 + Frame_Shift_Ins INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 124274576 124274577 - C INS DNAH10 ENST00000409039 human ensembl 74_37 +1 known frame_shift_ins c.1540_1541 p.M516fs 0.915:0.913 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 244 0 0 205 45 18 DDX11 0 genome.wustl.edu 37 12 31254910 31254912 + In_Frame_Del DEL GAA GAA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 31254910 31254912 GAA - DEL DDX11 ENST00000407793 human ensembl 74_37 +1 known in_frame_del c.2196_2198 p.K734in_frame_del 1.000:1.000:1.000 smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 52 0 0 56 15 21.1268 KDM5A 0 genome.wustl.edu 37 12 432249 432249 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 432249 432249 T - DEL KDM5A ENST00000399788 human ensembl 74_37 -1 known frame_shift_del c.2274 p.D759fs 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 95 0 0 32 16 33.3333 KMT2D 0 genome.wustl.edu 37 12 49427112 49427112 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 49427112 49427112 A - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.11376 p.Q3793fs 0.018 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 20 0 0 22 7 24.1379 KMT2D 0 genome.wustl.edu 37 12 49445149 49445149 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 49445149 49445149 G - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.2317 p.Q773fs 0.279 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 94 0 0 70 42 37.5 KRT73 0 genome.wustl.edu 37 12 53012262 53012262 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 53012262 53012262 C - DEL KRT73 ENST00000305748 human ensembl 74_37 -1 known frame_shift_del c.47 p.G16fs 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 130 1 0.763359 108 27 20 KRT2 0 genome.wustl.edu 37 12 53044122 53044124 + Splice_Site DEL CTT CTT - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 53044122 53044124 CTT - DEL KRT2 ENST00000309680 human ensembl 74_37 -1 known splice_site_del c.800+3_800+1 e3-1 1.000:1.000:1.000 - - - no_errors KRT2 HGNC ENSG00000172867 152 0 0 113 23 16.9118 OR6C76 0 genome.wustl.edu 37 12 55820959 55820961 + In_Frame_Del DEL AAA AAA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 55820959 55820961 AAA - DEL OR6C76 ENST00000328314 human ensembl 74_37 +1 known in_frame_del c.922_924 p.K311in_frame_del 0.016:0.019:0.003 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C76 HGNC ENSG00000185821 34 0 0 28 7 20 LRP1 0 genome.wustl.edu 37 12 57556223 57556223 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 57556223 57556223 C - DEL LRP1 ENST00000243077 human ensembl 74_37 +1 known frame_shift_del c.2326 p.T778fs 0.102 NULL 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 200 0 0 130 27 17.1975 LRP1 0 genome.wustl.edu 37 12 57603939 57603940 + Frame_Shift_Ins INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 57603939 57603940 - C INS LRP1 ENST00000243077 human ensembl 74_37 +1 known frame_shift_ins c.12567_12568 p.D4192fs 0.037:0.113 superfamily_Growth_fac_rcpt_N_dom 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 125 1 0.793651 103 12 10.4348 MBD6 0 genome.wustl.edu 37 12 57921732 57921732 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 57921732 57921732 G - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.2338 p.G782fs 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 146 0 0 67 36 34.9515 CYP27B1 0 genome.wustl.edu 37 12 58157486 58157486 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 58157486 58157486 G - DEL CYP27B1 ENST00000228606 human ensembl 74_37 -1 known frame_shift_del c.1321 p.H441fs 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP27B1 HGNC ENSG00000111012 193 0 0 163 33 16.8367 TMBIM4 0 genome.wustl.edu 37 12 66531937 66531937 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 66531937 66531937 A - DEL TMBIM4 ENST00000358230 human ensembl 74_37 -1 known frame_shift_del c.520 p.Y174fs 0.028 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 44 0 0 28 17 37.7778 CD4 0 genome.wustl.edu 37 12 6924042 6924043 + Frame_Shift_Ins INS - - G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 6924042 6924043 - G INS CD4 ENST00000011653 human ensembl 74_37 +1 known frame_shift_ins c.491_492 p.K167fs 0.000:0.000 pfam_Ig_C2-set,smart_Ig_sub,smart_Ig_sub2 pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 115 0 0 117 19 13.9706 ZFC3H1 0 genome.wustl.edu 37 12 72038781 72038781 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 72038781 72038781 T - DEL ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known frame_shift_del c.1155 p.K385fs 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 52 0 0 37 8 17.7778 NAV3 0 genome.wustl.edu 37 12 78512068 78512068 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 78512068 78512068 A - DEL NAV3 ENST00000397909 human ensembl 74_37 +1 known frame_shift_del c.3031 p.T1012fs 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 109 0 0 85 37 30.3279 SLC6A15 0 genome.wustl.edu 37 12 85285889 85285889 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 85285889 85285889 T - DEL SLC6A15 ENST00000266682 human ensembl 74_37 -1 known frame_shift_del c.11 p.N4fs 1.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A15 HGNC ENSG00000072041 104 0 0 68 15 18.0723 VEZT 0 genome.wustl.edu 37 12 95650968 95650969 + Frame_Shift_Ins INS - - T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 12 95650968 95650969 - T INS VEZT ENST00000436874 human ensembl 74_37 +1 known frame_shift_ins c.211_212 p.S74fs 0.182:0.065 NULL NULL - no_errors VEZT HGNC ENSG00000028203 27 0 0 3 9 75 COL4A2 0 genome.wustl.edu 37 13 111114502 111114502 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 111114502 111114502 A - DEL COL4A2 ENST00000360467 human ensembl 74_37 +1 known frame_shift_del c.1638 p.G548fs 0.001 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 93 0 0 59 15 20.2703 TFDP1 0 genome.wustl.edu 37 13 114294635 114294635 + RNA DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 114294635 114294635 T - DEL TFDP1 ENST00000494812 human ensembl 74_37 +1 known rna NULL NULL 0.126 - - - no_errors TFDP1 HGNC ENSG00000198176 9 0 0 6 4 40 SACS 0 genome.wustl.edu 37 13 23914687 23914687 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 23914687 23914687 T - DEL SACS ENST00000382292 human ensembl 74_37 -1 known frame_shift_del c.3328 p.I1110fs 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 315 0 0 191 37 16.2281 SLC46A3 0 genome.wustl.edu 37 13 29278265 29278265 + RNA DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 29278265 29278265 A - DEL SLC46A3 ENST00000475385 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC46A3 HGNC ENSG00000139508 46 0 0 25 8 24.2424 NBEA 0 genome.wustl.edu 37 13 36125104 36125104 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 36125104 36125104 A - DEL NBEA ENST00000310336 human ensembl 74_37 +1 known frame_shift_del c.6741 p.V2250fs 0.214 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 61 0 0 33 11 25 POSTN 0 genome.wustl.edu 37 13 38144790 38144790 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 38144790 38144790 T - DEL POSTN ENST00000379747 human ensembl 74_37 -1 known frame_shift_del c.2196 p.K732fs 0.867 pirsf_TGFb-ind_bIGH3/osteoblast_fac2 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 99 0 0 31 12 27.907 CCDC70 0 genome.wustl.edu 37 13 52439693 52439693 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 52439693 52439693 A - DEL CCDC70 ENST00000242819 human ensembl 74_37 +1 known frame_shift_del c.179 p.I62fs 0.829 NULL NULL - no_errors CCDC70 HGNC ENSG00000123171 144 0 0 96 21 17.9487 CKAP2 0 genome.wustl.edu 37 13 53049034 53049034 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 53049034 53049034 A - DEL CKAP2 ENST00000378037 human ensembl 74_37 +1 known frame_shift_del c.1810 p.K606fs 0.999 NULL NULL - no_errors CKAP2 HGNC ENSG00000136108 38 0 0 16 7 30.4348 SUGT1 0 genome.wustl.edu 37 13 53261959 53261959 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 53261959 53261959 A - DEL SUGT1 ENST00000343788 human ensembl 74_37 +1 known frame_shift_del c.1087 p.K364fs 1.000 pfam_SGS,pfscan_SGS pfam_SGS,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_SGS,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SUGT1 HGNC ENSG00000165416 44 0 0 21 7 25 OLFM4 0 genome.wustl.edu 37 13 53608482 53608484 + Splice_Site DEL GTT GTT - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 53608482 53608484 GTT - DEL OLFM4 ENST00000219022 human ensembl 74_37 +1 known splice_site_del c.205-1_205-1 e2-1 0.970:0.002:0.000 - - - no_errors OLFM4 HGNC ENSG00000102837 80 0 0 61 10 14.0845 LMO7 0 genome.wustl.edu 37 13 76393555 76393555 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 76393555 76393555 A - DEL LMO7 ENST00000357063 human ensembl 74_37 +1 known frame_shift_del c.2247 p.S751fs 0.996 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 70 0 0 51 12 19.0476 GPR180 0 genome.wustl.edu 37 13 95254184 95254184 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 95254184 95254184 G - DEL GPR180 ENST00000376958 human ensembl 74_37 +1 known frame_shift_del c.3 p.L4fs 0.997 NULL pfam_Intimal_thickness-rel_rcpt,pfam_TM_rcpt_euk - no_errors GPR180 HGNC ENSG00000152749 10 0 0 10 4 28.5714 UGGT2 0 genome.wustl.edu 37 13 96684171 96684172 + Frame_Shift_Del DEL CA CA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 96684171 96684172 CA - DEL UGGT2 ENST00000376747 human ensembl 74_37 -1 known frame_shift_del c.213_212 p.V71fs 0.468:0.996 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 64 0 0 27 5 15.625 FARP1 0 genome.wustl.edu 37 13 99047712 99047712 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 13 99047712 99047712 C - DEL FARP1 ENST00000376586 human ensembl 74_37 +1 known frame_shift_del c.1396 p.P467fs 0.821 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 174 0 0 106 33 23.741 PPP2R5C 0 genome.wustl.edu 37 14 102378891 102378891 + RNA DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 102378891 102378891 G - DEL PPP2R5C ENST00000556218 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PPP2R5C HGNC ENSG00000078304 22 0 0 10 3 23.0769 TECPR2 0 genome.wustl.edu 37 14 102901068 102901068 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 102901068 102901068 T - DEL TECPR2 ENST00000359520 human ensembl 74_37 +1 known frame_shift_del c.1914 p.C640fs 0.000 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 85 0 0 56 16 22.2222 OR4K5 0 genome.wustl.edu 37 14 20389294 20389294 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 20389294 20389294 T - DEL OR4K5 ENST00000315915 human ensembl 74_37 +1 known frame_shift_del c.529 p.C179fs 0.411 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K5 HGNC ENSG00000176281 285 0 0 154 42 21.4286 CDH24 0 genome.wustl.edu 37 14 23517514 23517514 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 23517514 23517514 G - DEL CDH24 ENST00000267383 human ensembl 74_37 -1 known frame_shift_del c.2135 p.P712fs 0.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 152 0 0 102 37 26.6187 SDR39U1 0 genome.wustl.edu 37 14 24909373 24909375 + In_Frame_Del DEL CTT CTT - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 24909373 24909375 CTT - DEL SDR39U1 ENST00000399395 human ensembl 74_37 -1 known in_frame_del c.798_796 p.K266in_frame_del 0.965:0.993:1.000 pfam_DUF1731_C,tigrfam_Sugar_nucleotide_Epase_put pfam_DUF1731_C,pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put - no_errors SDR39U1 HGNC ENSG00000100445 59 0 0 31 10 24.3902 NOVA1 0 genome.wustl.edu 37 14 26917308 26917309 + Frame_Shift_Ins INS - - T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 26917308 26917309 - T INS NOVA1 ENST00000539517 human ensembl 74_37 -1 known frame_shift_ins c.1381_1380 p.G460fs 1.000:0.992 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 NOVA1 HGNC ENSG00000139910 53 0 0 37 7 15.9091 MIA2 0 genome.wustl.edu 37 14 39716860 39716860 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 39716860 39716860 A - DEL MIA2 ENST00000556784 human ensembl 74_37 +1 putative frame_shift_del c.1079 p.D363fs 0.883 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA2 HGNC ENSG00000150526 53 0 0 31 7 18.4211 YLPM1 0 genome.wustl.edu 37 14 75230717 75230717 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 75230717 75230717 C - DEL YLPM1 ENST00000325680 human ensembl 74_37 +1 known frame_shift_del c.525 p.P177fs 0.768 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 59 0 0 44 12 21.4286 UNC79 0 genome.wustl.edu 37 14 94088050 94088050 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 94088050 94088050 A - DEL UNC79 ENST00000553484 human ensembl 74_37 +1 known frame_shift_del c.4537 p.K1515fs 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 81 0 0 47 12 20.339 CLMN 0 genome.wustl.edu 37 14 95669614 95669614 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 14 95669614 95669614 G - DEL CLMN ENST00000298912 human ensembl 74_37 -1 known frame_shift_del c.2072 p.P691fs 0.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 94 0 0 71 20 21.978 DNM1P47 0 genome.wustl.edu 37 15 102312813 102312814 + RNA INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 102312813 102312814 - A INS DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.899:0.858 - - - no_errors DNM1P47 HGNC ENSG00000259660 72 0 0 33 4 10.8108 SNORD116-26 0 genome.wustl.edu 37 15 25344663 25344663 + RNA DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 25344663 25344663 A - DEL SNORD116-26 ENST00000516006 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-26 HGNC ENSG00000251815 91 0 0 70 19 21.3483 MAPKBP1 0 genome.wustl.edu 37 15 42110453 42110453 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 42110453 42110453 T - DEL MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known frame_shift_del c.2060 p.F688fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 117 0 0 74 18 19.5652 EIF3J 0 genome.wustl.edu 37 15 44843099 44843099 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 44843099 44843099 A - DEL EIF3J ENST00000261868 human ensembl 74_37 +1 known frame_shift_del c.173 p.E61fs 1.000 pfam_eIF3j pfam_eIF3j - no_errors EIF3J HGNC ENSG00000104131 155 0 0 85 17 16.6667 SPG11 0 genome.wustl.edu 37 15 44905698 44905698 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 44905698 44905698 T - DEL SPG11 ENST00000261866 human ensembl 74_37 -1 known frame_shift_del c.3075 p.E1026fs 1.000 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 55 0 0 29 7 19.4444 B2M 0 genome.wustl.edu 37 15 45003781 45003784 + Frame_Shift_Del DEL CTCT CTCT - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 CTCT CTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 45003781 45003784 CTCT - DEL B2M ENST00000544417 human ensembl 74_37 +1 known frame_shift_del c.37_40 p.S14fs 0.000:0.000:0.000:0.001 NULL pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 119 0 0 91 22 19.469 CEP152 0 genome.wustl.edu 37 15 49036443 49036443 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 49036443 49036443 T - DEL CEP152 ENST00000380950 human ensembl 74_37 -1 known frame_shift_del c.3829 p.I1277fs 1.000 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 43 0 0 32 8 20 FBXL22 0 genome.wustl.edu 37 15 63889654 63889656 + In_Frame_Del DEL CTC CTC - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 63889654 63889656 CTC - DEL FBXL22 ENST00000360587 human ensembl 74_37 +1 known in_frame_del c.63_65 p.S22in_frame_del 1.000:1.000:1.000 superfamily_F-box_dom superfamily_F-box_dom - no_errors FBXL22 HGNC ENSG00000197361 103 0 0 56 14 20 NOX5 0 genome.wustl.edu 37 15 69328220 69328222 + In_Frame_Del DEL CTC CTC - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 69328220 69328222 CTC - DEL NOX5 ENST00000388866 human ensembl 74_37 +1 known in_frame_del c.1132_1134 p.L380in_frame_del 0.757:0.770:0.423 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NOX5 HGNC ENSG00000255346 327 0 0 191 43 18.3761 LRRC49 0 genome.wustl.edu 37 15 71272472 71272473 + Frame_Shift_Ins INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 71272472 71272473 - A INS LRRC49 ENST00000260382 human ensembl 74_37 +1 known frame_shift_ins c.954_955 p.E320fs 1.000:1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC49 HGNC ENSG00000137821 99 0 0 50 17 25.3731 IREB2 0 genome.wustl.edu 37 15 78762935 78762935 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 78762935 78762935 T - DEL IREB2 ENST00000258886 human ensembl 74_37 +1 known frame_shift_del c.691 p.F232fs 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 89 0 0 45 9 16.6667 ADAMTS7 0 genome.wustl.edu 37 15 79051796 79051796 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 79051796 79051796 G - DEL ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known frame_shift_del c.5028 p.S1677fs 0.001 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 47 0 0 27 7 20.5882 FAH 0 genome.wustl.edu 37 15 80478482 80478482 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 15 80478482 80478482 G - DEL FAH ENST00000261755 human ensembl 74_37 +1 known frame_shift_del c.1191 p.D399fs 0.997 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel,tigrfam_Fumarylacetoacetase pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase - no_errors FAH HGNC ENSG00000103876 95 0 0 67 10 12.987 TEKT5 0 genome.wustl.edu 37 16 10788457 10788457 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 10788457 10788457 G - DEL TEKT5 ENST00000283025 human ensembl 74_37 -1 known frame_shift_del c.274 p.H92fs 0.004 NULL pfam_Tektin,prints_Tektin - no_errors TEKT5 HGNC ENSG00000153060 163 1 0.609756 94 21 18.2609 TVP23A 0 genome.wustl.edu 37 16 10867202 10867203 + Frame_Shift_Ins INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 10867202 10867203 - A INS TVP23A ENST00000299866 human ensembl 74_37 -1 known frame_shift_ins c.421_420 p.S140fs 1.000:1.000 pfam_DUF846_euk pfam_DUF846_euk - no_errors TVP23A HGNC ENSG00000166676 74 0 0 53 18 25.3521 KNOP1 0 genome.wustl.edu 37 16 19722724 19722724 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 19722724 19722724 T - DEL KNOP1 ENST00000219837 human ensembl 74_37 -1 known frame_shift_del c.957 p.G320fs 0.536 NULL NULL - no_errors KNOP1 HGNC ENSG00000103550 192 1 0.518135 140 25 15.1515 TSC2 0 genome.wustl.edu 37 16 2098716 2098716 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 2098716 2098716 A - DEL TSC2 ENST00000219476 human ensembl 74_37 +1 known frame_shift_del c.100 p.K34fs 0.436 superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 180 0 0 101 27 21.0938 MAZ 0 genome.wustl.edu 37 16 29821038 29821038 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 29821038 29821038 C - DEL MAZ ENST00000219782 human ensembl 74_37 +1 known frame_shift_del c.1457 p.Q488fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 9 0 0 11 8 42.1053 ENSG00000260304 0 genome.wustl.edu 37 16 31194048 31194049 + RNA INS - - T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 31194048 31194049 - T INS ENSG00000260304 ENST00000564743 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors RP11-388M20.6 Clone_based_vega_gene ENSG00000260304 49 0 0 28 9 24.3243 LOC100134368 0 genome.wustl.edu 37 16 436712 436714 + RNA DEL AAA AAA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 436712 436714 AAA - DEL LOC100134368 ENST00000457760 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001:0.000 - - - no_errors Z97634.3 Clone_based_vega_gene ENSG00000236829 13 0 0 7 2 22.2222 MGRN1 0 genome.wustl.edu 37 16 4732864 4732866 + In_Frame_Del DEL GAG GAG - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 4732864 4732866 GAG - DEL MGRN1 ENST00000262370 human ensembl 74_37 +1 known in_frame_del c.1399_1401 p.E468in_frame_del 0.999:1.000:0.997 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC ENSG00000102858 59 0 0 47 8 14.5455 MT4 0 genome.wustl.edu 37 16 56602768 56602769 + Frame_Shift_Ins INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 56602768 56602769 - C INS MT4 ENST00000219162 human ensembl 74_37 +1 known frame_shift_ins c.113_114 p.G42fs 1.000:1.000 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT4 HGNC ENSG00000102891 348 0 0 224 59 20.8481 LRRC36 0 genome.wustl.edu 37 16 67418824 67418824 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 67418824 67418824 A - DEL LRRC36 ENST00000329956 human ensembl 74_37 +1 known frame_shift_del c.2097 p.G701fs 0.811 NULL NULL - no_errors LRRC36 HGNC ENSG00000159708 104 0 0 70 11 13.5802 RLTPR 0 genome.wustl.edu 37 16 67682131 67682131 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 67682131 67682131 C - DEL RLTPR ENST00000334583 human ensembl 74_37 +1 known frame_shift_del c.1248 p.P418fs 0.002 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 33 0 0 20 6 23.0769 RAB40C 0 genome.wustl.edu 37 16 677580 677580 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 677580 677580 C - DEL RAB40C ENST00000248139 human ensembl 74_37 +1 known frame_shift_del c.804 p.Q271fs 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40C HGNC ENSG00000197562 131 0 0 75 25 25 WDR90 0 genome.wustl.edu 37 16 709105 709106 + Frame_Shift_Ins INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 709105 709106 - C INS WDR90 ENST00000549091 human ensembl 74_37 +1 novel frame_shift_ins c.3031_3032 p.A1014fs 0.000:0.000 NULL pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 178 0 0 117 20 14.5985 ZFHX3 0 genome.wustl.edu 37 16 72828435 72828435 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 72828435 72828435 A - DEL ZFHX3 ENST00000268489 human ensembl 74_37 -1 known frame_shift_del c.8146 p.C2716fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 135 0 0 94 13 12.1495 ZFHX3 0 genome.wustl.edu 37 16 72991758 72991758 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 72991758 72991758 C - DEL ZFHX3 ENST00000268489 human ensembl 74_37 -1 known frame_shift_del c.2287 p.E763fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 126 1 0.787402 72 21 22.5806 ZC3H18 0 genome.wustl.edu 37 16 88694458 88694459 + Frame_Shift_Ins INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 16 88694458 88694459 - C INS ZC3H18 ENST00000301011 human ensembl 74_37 +1 known frame_shift_ins c.2400_2401 p.G802fs 0.106:0.269 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 236 0 0 160 46 22.3301 ABR 0 genome.wustl.edu 37 17 1028559 1028559 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 1028559 1028559 C - DEL ABR ENST00000302538 human ensembl 74_37 -1 known frame_shift_del c.205 p.D69fs 1.000 superfamily_DH-domain pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 176 0 0 112 31 21.6783 MYOCD 0 genome.wustl.edu 37 17 12626277 12626278 + Frame_Shift_Ins INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 12626277 12626278 - A INS MYOCD ENST00000425538 human ensembl 74_37 +1 known frame_shift_ins c.367_368 p.N125fs 1.000:1.000 pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 229 0 0 128 41 24.2604 WDR81 0 genome.wustl.edu 37 17 1631634 1631634 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 1631634 1631634 G - DEL WDR81 ENST00000409644 human ensembl 74_37 +1 known frame_shift_del c.3381 p.G1129fs 0.708 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 193 1 0.515464 132 39 22.807 SHMT1 0 genome.wustl.edu 37 17 18251660 18251660 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 18251660 18251660 C - DEL SHMT1 ENST00000316694 human ensembl 74_37 -1 known frame_shift_del c.337 p.V113fs 1.000 pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase - no_errors SHMT1 HGNC ENSG00000176974 45 0 0 24 6 20 EPN2 0 genome.wustl.edu 37 17 19232950 19232950 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 19232950 19232950 A - DEL EPN2 ENST00000314728 human ensembl 74_37 +1 known frame_shift_del c.1401 p.T470fs 1.000 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN2 HGNC ENSG00000072134 108 0 0 54 18 25 ULK2 0 genome.wustl.edu 37 17 19729453 19729453 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 19729453 19729453 T - DEL ULK2 ENST00000361658 human ensembl 74_37 -1 known frame_shift_del c.834 p.K278fs 1.000 superfamily_Kinase-like_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 95 0 0 45 16 26.2295 SEZ6 0 genome.wustl.edu 37 17 27308582 27308582 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 27308582 27308582 G - DEL SEZ6 ENST00000317338 human ensembl 74_37 -1 known frame_shift_del c.531 p.S178fs 0.196 NULL pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC ENSG00000063015 31 0 0 28 7 20 LIG3 0 genome.wustl.edu 37 17 33310486 33310486 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 33310486 33310486 A - DEL LIG3 ENST00000378526 human ensembl 74_37 +1 known frame_shift_del c.462 p.I157fs 1.000 pfam_Znf_PARP,pfscan_Znf_PARP pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 48 0 0 38 7 15.5556 MRM1 0 genome.wustl.edu 37 17 34964728 34964728 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 34964728 34964728 G - DEL MRM1 ENST00000250156 human ensembl 74_37 +1 known frame_shift_del c.939 p.E315fs 0.000 NULL pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd,tigrfam_rRNA_MeTrfase_TrmH - no_errors MRM1 HGNC ENSG00000129282 237 0 0 139 37 21.0227 KRT31 0 genome.wustl.edu 37 17 39553720 39553720 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 39553720 39553720 G - DEL KRT31 ENST00000251645 human ensembl 74_37 -1 known frame_shift_del c.72 p.S25fs 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT31 HGNC ENSG00000094796 101 1 0.980392 81 13 13.8298 FKBP10 0 genome.wustl.edu 37 17 39975559 39975559 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 39975559 39975559 C - DEL FKBP10 ENST00000321562 human ensembl 74_37 +1 known frame_shift_del c.825 p.G278fs 0.062 NULL pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 173 0 0 107 32 23.0216 ANKFY1 0 genome.wustl.edu 37 17 4085525 4085525 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 4085525 4085525 G - DEL ANKFY1 ENST00000570535 human ensembl 74_37 -1 known frame_shift_del c.2198 p.P733fs 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 226 0 0 137 38 21.7143 ETV4 0 genome.wustl.edu 37 17 41610701 41610701 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 41610701 41610701 G - DEL ETV4 ENST00000319349 human ensembl 74_37 -1 known frame_shift_del c.399 p.R134fs 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom - no_errors ETV4 HGNC ENSG00000175832 65 0 0 43 9 17.3077 SPNS3 0 genome.wustl.edu 37 17 4389805 4389805 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 4389805 4389805 G - DEL SPNS3 ENST00000355530 human ensembl 74_37 +1 known frame_shift_del c.1377 p.G461fs 0.811 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS3 HGNC ENSG00000182557 102 1 0.970874 88 16 15.3846 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 135 1 0.735294 106 24 18.4615 SPAG9 0 genome.wustl.edu 37 17 49077041 49077041 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 49077041 49077041 T - DEL SPAG9 ENST00000262013 human ensembl 74_37 -1 known frame_shift_del c.1645 p.R549fs 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 48 0 0 17 13 43.3333 COIL 0 genome.wustl.edu 37 17 55028118 55028118 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 55028118 55028118 T - DEL COIL ENST00000240316 human ensembl 74_37 -1 known frame_shift_del c.485 p.N162fs 0.013 NULL NULL - no_errors COIL HGNC ENSG00000121058 121 0 0 63 21 25 PRR11 0 genome.wustl.edu 37 17 57247171 57247171 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 57247171 57247171 A - DEL PRR11 ENST00000262293 human ensembl 74_37 +1 known frame_shift_del c.58 p.E23fs 0.749 NULL NULL - no_errors PRR11 HGNC ENSG00000068489 74 0 0 44 12 21.4286 SDK2 0 genome.wustl.edu 37 17 71394282 71394282 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 71394282 71394282 G - DEL SDK2 ENST00000392650 human ensembl 74_37 -1 known frame_shift_del c.3246 p.S1083fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 91 0 0 53 14 20.8955 FXR2 0 genome.wustl.edu 37 17 7495036 7495036 + RNA DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 17 7495036 7495036 C - DEL FXR2 ENST00000573057 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors FXR2 HGNC ENSG00000129245 12 0 0 10 6 37.5 ENSG00000264714 0 genome.wustl.edu 37 18 10726633 10726634 + RNA DEL GC GC - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 10726633 10726634 GC - DEL ENSG00000264714 ENST00000581724 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors RP11-21G15.1 Clone_based_vega_gene ENSG00000264714 12 0 0 8 2 20 CTAGE1 0 genome.wustl.edu 37 18 19995706 19995706 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 19995706 19995706 G - DEL CTAGE1 ENST00000391403 human ensembl 74_37 -1 known frame_shift_del c.2069 p.P690fs 0.300 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 174 0 0 96 27 21.9512 ENSG00000263606 0 genome.wustl.edu 37 18 2946534 2946534 + RNA DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 2946534 2946534 T - DEL ENSG00000263606 ENST00000581139 human ensembl 74_37 -1 known rna NULL NULL 0.978 - - - no_errors RP11-737O24.3 Clone_based_vega_gene ENSG00000263606 24 0 0 22 6 21.4286 ENSG00000252258 0 genome.wustl.edu 37 18 3025533 3025533 + RNA DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 3025533 3025533 A - DEL ENSG00000252258 ENST00000516449 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors SNORA70 RFAM ENSG00000252258 32 0 0 14 6 30 NOL4 0 genome.wustl.edu 37 18 31803157 31803157 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 31803157 31803157 C - DEL NOL4 ENST00000261592 human ensembl 74_37 -1 known frame_shift_del c.61 p.D21fs 1.000 NULL NULL - no_errors NOL4 HGNC ENSG00000101746 116 1 0.854701 89 21 19.0909 SYT4 0 genome.wustl.edu 37 18 40857246 40857246 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 40857246 40857246 T - DEL SYT4 ENST00000255224 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 95 0 0 64 13 16.8831 CTIF 0 genome.wustl.edu 37 18 46284389 46284389 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 46284389 46284389 G - DEL CTIF ENST00000382998 human ensembl 74_37 +1 known frame_shift_del c.684 p.G230fs 1.000 NULL pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 190 0 0 131 50 27.6243 DCC 0 genome.wustl.edu 37 18 50976892 50976892 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 50976892 50976892 C - DEL DCC ENST00000442544 human ensembl 74_37 +1 known frame_shift_del c.3252 p.P1086fs 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 103 0 0 54 11 16.9231 ENSG00000267040 0 genome.wustl.edu 37 18 55335787 55335788 + RNA DEL AA AA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 55335787 55335788 AA - DEL ENSG00000267040 ENST00000592201 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-35G9.3 Clone_based_vega_gene ENSG00000267040 26 0 0 17 2 10.5263 LMAN1 0 genome.wustl.edu 37 18 57013194 57013194 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 57013194 57013194 T - DEL LMAN1 ENST00000251047 human ensembl 74_37 -1 known frame_shift_del c.912 p.E305fs 0.898 superfamily_HMG_box_dom pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom - no_errors LMAN1 HGNC ENSG00000074695 121 1 0.819672 87 21 19.4444 LMAN1 0 genome.wustl.edu 37 18 57013285 57013285 + Splice_Site DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 57013285 57013285 T - DEL LMAN1 ENST00000251047 human ensembl 74_37 -1 known splice_site_del c.823-2 e8-2 1.000 - - - no_errors LMAN1 HGNC ENSG00000074695 114 0 0 78 10 11.3636 TMEM200C 0 genome.wustl.edu 37 18 5891698 5891698 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 5891698 5891698 C - DEL TMEM200C ENST00000383490 human ensembl 74_37 -1 known frame_shift_del c.365 p.G122fs 0.000 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 116 1 0.854701 87 23 20.9091 CCDC102B 0 genome.wustl.edu 37 18 66504103 66504103 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 66504103 66504103 C - DEL CCDC102B ENST00000319445 human ensembl 74_37 +1 known frame_shift_del c.103 p.R37fs 0.000 NULL NULL - no_errors CCDC102B HGNC ENSG00000150636 141 0 0 82 21 20.3883 CNDP2 0 genome.wustl.edu 37 18 72168668 72168668 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 72168668 72168668 G - DEL CNDP2 ENST00000324262 human ensembl 74_37 +1 known frame_shift_del c.165 p.G57fs 1.000 pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP2 HGNC ENSG00000133313 139 0 0 88 21 19.2661 ADNP2 0 genome.wustl.edu 37 18 77896563 77896564 + Frame_Shift_Ins INS - - T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 18 77896563 77896564 - T INS ADNP2 ENST00000262198 human ensembl 74_37 +1 known frame_shift_ins c.3267_3268 p.G1091fs 1.000:1.000 superfamily_Homeodomain-like,smart_Homeobox_dom superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 91 0 0 49 7 12.5 ENSG00000267607 0 genome.wustl.edu 37 19 10398198 10398198 + RNA DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 10398198 10398198 C - DEL ENSG00000267607 ENST00000589379 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2369P2.8 Clone_based_vega_gene ENSG00000267607 68 0 0 51 15 22.7273 NACC1 0 genome.wustl.edu 37 19 13246769 13246769 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 13246769 13246769 G - DEL NACC1 ENST00000292431 human ensembl 74_37 +1 known frame_shift_del c.748 p.G251fs 0.432 NULL pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors NACC1 HGNC ENSG00000160877 25 0 0 21 3 12.5 OR10H3 0 genome.wustl.edu 37 19 15852693 15852693 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 15852693 15852693 T - DEL OR10H3 ENST00000305892 human ensembl 74_37 +1 known frame_shift_del c.491 p.H166fs 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H3 HGNC ENSG00000171936 124 0 0 79 19 19.3878 IZUMO4 0 genome.wustl.edu 37 19 2097034 2097036 + In_Frame_Del DEL CTT CTT - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 2097034 2097036 CTT - DEL IZUMO4 ENST00000395301 human ensembl 74_37 +1 known in_frame_del c.90_92 p.F31in_frame_del 0.999:1.000:1.000 NULL NULL - no_errors IZUMO4 HGNC ENSG00000099840 123 0 0 70 16 18.6047 ZNF91 0 genome.wustl.edu 37 19 23544256 23544257 + Frame_Shift_Del DEL TA TA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 23544256 23544257 TA - DEL ZNF91 ENST00000300619 human ensembl 74_37 -1 known frame_shift_del c.1525_1524 p.H508fs 0.132:0.463 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 71 0 0 36 15 29.4118 C19orf40 0 genome.wustl.edu 37 19 33464997 33464997 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 33464997 33464997 A - DEL C19orf40 ENST00000588258 human ensembl 74_37 +1 known frame_shift_del c.275 p.T94fs 1.000 NULL superfamily_RuvA_2-like - no_errors C19orf40 HGNC ENSG00000131944 63 0 0 43 11 20.3704 KMT2B 0 genome.wustl.edu 37 19 36210764 36210764 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 36210764 36210764 C - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.515 p.P174fs 0.976 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 146 0 0 112 29 20.5674 SELV 0 genome.wustl.edu 37 19 40009541 40009543 + Splice_Site DEL AGG AGG - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 40009541 40009543 AGG - DEL SELV ENST00000423711 human ensembl 74_37 +1 known splice_site_del c.889-2_889-1 e5-1 0.991:0.998:0.998 - - - no_errors SELV Uniprot_gn ENSG00000186838 179 0 0 125 30 19.3548 CEACAM5 0 genome.wustl.edu 37 19 42224975 42224976 + Frame_Shift_Del DEL AC AC - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 42224975 42224976 AC - DEL CEACAM5 ENST00000221992 human ensembl 74_37 +1 known frame_shift_del c.1905_1906 p.Q638fs 0.121:0.204 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM5 HGNC ENSG00000105388 157 0 0 128 30 18.9873 ZNF112 0 genome.wustl.edu 37 19 44833358 44833359 + Frame_Shift_Del DEL CT CT - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 44833358 44833359 CT - DEL ZNF112 ENST00000536500 human ensembl 74_37 -1 known frame_shift_del c.1021_1020 p.R340fs 0.000:0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF112 HGNC ENSG00000062370 67 0 0 33 9 21.4286 PPM1N 0 genome.wustl.edu 37 19 46003737 46003737 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 46003737 46003737 C - DEL PPM1N ENST00000451287 human ensembl 74_37 +1 known frame_shift_del c.1081 p.S363fs 0.999 pfam_PP2C_C,superfamily_PP2C_C pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom - no_errors PPM1N HGNC ENSG00000213889 28 0 0 19 4 17.3913 FAM83E 0 genome.wustl.edu 37 19 49113957 49113957 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 49113957 49113957 C - DEL FAM83E ENST00000263266 human ensembl 74_37 -1 known frame_shift_del c.613 p.V205fs 0.726 pfam_DUF1669 pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 11 0 0 4 3 42.8571 FGF21 0 genome.wustl.edu 37 19 49259700 49259700 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 49259700 49259700 G - DEL FGF21 ENST00000222157 human ensembl 74_37 +1 known frame_shift_del c.207 p.G71fs 0.031 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF21 HGNC ENSG00000105550 65 0 0 35 7 16.6667 BAX 0 genome.wustl.edu 37 19 49458971 49458971 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 49458971 49458971 G - DEL BAX ENST00000293288 human ensembl 74_37 +1 known frame_shift_del c.114 p.E41fs 0.588 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAX HGNC ENSG00000087088 121 0 0 58 42 42 FCGRT 0 genome.wustl.edu 37 19 50017380 50017380 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 50017380 50017380 G - DEL FCGRT ENST00000221466 human ensembl 74_37 +1 known frame_shift_del c.315 p.G107fs 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors FCGRT HGNC ENSG00000104870 55 0 0 34 12 26.087 SCAF1 0 genome.wustl.edu 37 19 50158042 50158042 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 50158042 50158042 C - DEL SCAF1 ENST00000360565 human ensembl 74_37 +1 known frame_shift_del c.3533 p.T1181fs 0.934 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 78 0 0 51 7 12.069 NUP62 0 genome.wustl.edu 37 19 50412225 50412230 + Splice_Site DEL GGTGGC GGTGGC - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 GGTGGC GGTGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 50412225 50412230 GGTGGC - DEL NUP62 ENST00000597723 human ensembl 74_37 -1 putative splice_site_del c.834+1_834+1 e1+1 0.004:0.007:0.000:0.000:0.000:0.000 - - - no_errors NUP62 HGNC ENSG00000213024 76 0 0 59 15 20.2703 EMC10 0 genome.wustl.edu 37 19 50985132 50985132 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 50985132 50985132 G - DEL EMC10 ENST00000376918 human ensembl 74_37 +1 known frame_shift_del c.693 p.A234fs 1.000 NULL NULL - no_errors EMC10 HGNC ENSG00000161671 15 0 0 10 7 41.1765 SHANK1 0 genome.wustl.edu 37 19 51192559 51192559 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 51192559 51192559 G - DEL SHANK1 ENST00000391813 human ensembl 74_37 -1 known frame_shift_del c.103 p.H35fs 0.020 NULL pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors SHANK1 HGNC ENSG00000161681 67 0 0 68 13 16.0494 SUV420H2 0 genome.wustl.edu 37 19 55853589 55853590 + Frame_Shift_Ins INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 55853589 55853590 - C INS SUV420H2 ENST00000255613 human ensembl 74_37 +1 known frame_shift_ins c.117_118 p.L41fs 0.990:1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H2 HGNC ENSG00000133247 38 0 0 26 6 18.75 PRR22 0 genome.wustl.edu 37 19 5783841 5783841 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 5783841 5783841 C - DEL PRR22 ENST00000419421 human ensembl 74_37 -1 known frame_shift_del c.417 p.Q141fs 0.065 NULL NULL - no_errors PRR22 HGNC ENSG00000212123 10 0 0 18 7 28 CAMSAP3 0 genome.wustl.edu 37 19 7676687 7676687 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 7676687 7676687 C - DEL CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known frame_shift_del c.1389 p.P465fs 0.097 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 27 0 0 29 7 19.4444 CAMSAP3 0 genome.wustl.edu 37 19 7676727 7676727 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 7676727 7676727 C - DEL CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known frame_shift_del c.1429 p.P478fs 0.001 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 38 0 0 31 10 24.3902 ELAVL1 0 genome.wustl.edu 37 19 8028414 8028414 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 19 8028414 8028414 C - DEL ELAVL1 ENST00000351593 human ensembl 74_37 -1 known frame_shift_del c.1015 p.D339fs 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL1 HGNC ENSG00000066044 153 0 0 100 22 18.0328 SLC9A2 0 genome.wustl.edu 37 2 103324746 103324746 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 103324746 103324746 C - DEL SLC9A2 ENST00000233969 human ensembl 74_37 +1 known frame_shift_del c.2237 p.P748fs 0.000 prints_Na/H_exchanger_2 pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 312 0 0 166 52 23.8532 PSD4 0 genome.wustl.edu 37 2 113942944 113942945 + Frame_Shift_Del DEL CT CT - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 113942944 113942945 CT - DEL PSD4 ENST00000245796 human ensembl 74_37 +1 known frame_shift_del c.1176_1177 p.L394fs 0.000:0.000 NULL 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 PSD4 HGNC ENSG00000125637 224 0 0 158 30 15.9574 SLC35F5 0 genome.wustl.edu 37 2 114500277 114500278 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 114500277 114500278 AA - DEL SLC35F5 ENST00000245680 human ensembl 74_37 -1 known frame_shift_del c.742_741 p.F247fs 1.000:1.000 pfam_DMT pfam_DMT - no_errors SLC35F5 HGNC ENSG00000115084 123 0 0 65 19 22.619 EPB41L5 0 genome.wustl.edu 37 2 120836150 120836150 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 120836150 120836150 T - DEL EPB41L5 ENST00000263713 human ensembl 74_37 +1 known frame_shift_del c.796 p.W268fs 1.000 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L5 HGNC ENSG00000115109 50 0 0 23 9 28.125 ENSG00000231731 0 genome.wustl.edu 37 2 128263364 128263366 + RNA DEL AAA AAA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 128263364 128263366 AAA - DEL ENSG00000231731 ENST00000599001 human ensembl 74_37 +1 known rna NULL NULL 0.233:0.319:0.309 - - - no_errors AC010976.2 Clone_based_vega_gene ENSG00000231731 54 0 0 31 8 20.5128 UGGT1 0 genome.wustl.edu 37 2 128867246 128867247 + Frame_Shift_Ins INS - - T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 128867246 128867247 - T INS UGGT1 ENST00000259253 human ensembl 74_37 +1 known frame_shift_ins c.447_448 p.S151fs 0.034:0.997 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 119 0 0 63 7 10 CCDC74B 0 genome.wustl.edu 37 2 130902531 130902531 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 130902531 130902531 G - DEL CCDC74B ENST00000310463 human ensembl 74_37 -1 known frame_shift_del c.39 p.S14fs 0.161 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 42 0 0 45 7 13.4615 AMER3 0 genome.wustl.edu 37 2 131521308 131521308 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 131521308 131521308 G - DEL AMER3 ENST00000321420 human ensembl 74_37 +1 known frame_shift_del c.1663 p.A557fs 0.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 46 0 0 22 9 29.0323 LRP1B 0 genome.wustl.edu 37 2 141528516 141528516 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 141528516 141528516 C - DEL LRP1B ENST00000389484 human ensembl 74_37 -1 known frame_shift_del c.5560 p.E1854fs 1.000 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,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 LRP1B HGNC ENSG00000168702 127 0 0 70 19 21.3483 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 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,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 126 1 0.787402 41 34 45.3333 SCN3A 0 genome.wustl.edu 37 2 165987929 165987930 + Splice_Site INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 165987929 165987930 - A INS SCN3A ENST00000283254 human ensembl 74_37 -1 known splice_site_ins c.2392-3_2392-2 e14-2 1.000:0.008 - - - no_errors SCN3A HGNC ENSG00000153253 87 0 0 55 11 16.6667 CSRNP3 0 genome.wustl.edu 37 2 166514383 166514384 + Frame_Shift_Ins INS - - G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 166514383 166514384 - G INS CSRNP3 ENST00000314499 human ensembl 74_37 +1 known frame_shift_ins c.261_262 p.S89fs 0.999:1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 102 0 0 56 6 9.67742 FASTKD1 0 genome.wustl.edu 37 2 170428529 170428530 + Frame_Shift_Ins INS - - T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 170428529 170428530 - T INS FASTKD1 ENST00000453153 human ensembl 74_37 -1 known frame_shift_ins c.11_10 p.T4fs 0.000:0.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC ENSG00000138399 34 0 0 18 7 28 TTN 0 genome.wustl.edu 37 2 179647781 179647781 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 179647781 179647781 T - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.2852 p.N951fs 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 49 0 0 40 9 18.3673 SLC39A10 0 genome.wustl.edu 37 2 196544941 196544942 + Frame_Shift_Ins INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 196544941 196544942 - A INS SLC39A10 ENST00000359634 human ensembl 74_37 +1 known frame_shift_ins c.175_176 p.Y62fs 1.000:1.000 NULL pfam_ZIP - no_errors SLC39A10 HGNC ENSG00000196950 63 0 0 34 8 19.0476 GTF3C3 0 genome.wustl.edu 37 2 197657762 197657764 + In_Frame_Del DEL TCC TCC - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 197657762 197657764 TCC - DEL GTF3C3 ENST00000263956 human ensembl 74_37 -1 known in_frame_del c.329_327 p.E111in_frame_del 0.984:0.986:0.955 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 44 0 0 27 3 10 ANKRD44 0 genome.wustl.edu 37 2 197943382 197943383 + Frame_Shift_Ins INS - - TG TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 197943382 197943383 - TG INS ANKRD44 ENST00000409153 human ensembl 74_37 -1 known frame_shift_ins c.1695_1694 p.T566fs 0.000:0.001 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 17 0 0 9 4 30.7692 SGOL2 0 genome.wustl.edu 37 2 201436992 201436992 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 201436992 201436992 A - DEL SGOL2 ENST00000357799 human ensembl 74_37 +1 known frame_shift_del c.1923 p.G644fs 0.002 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 143 0 0 77 26 25.2427 NOP58 0 genome.wustl.edu 37 2 203168132 203168133 + Frame_Shift_Ins INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 203168132 203168133 - A INS NOP58 ENST00000264279 human ensembl 74_37 +1 known frame_shift_ins c.1563_1564 p.R524fs 1.000:1.000 NULL pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC ENSG00000055044 48 0 0 28 6 17.6471 BMPR2 0 genome.wustl.edu 37 2 203383617 203383617 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 203383617 203383617 T - DEL BMPR2 ENST00000374580 human ensembl 74_37 +1 known frame_shift_del c.694 p.S233fs 0.996 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,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 91 0 0 63 20 24.0964 RAPH1 0 genome.wustl.edu 37 2 204305619 204305619 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 204305619 204305619 G - DEL RAPH1 ENST00000374493 human ensembl 74_37 -1 known frame_shift_del c.2450 p.P817fs 0.409 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 140 0 0 118 21 15.1079 PUM2 0 genome.wustl.edu 37 2 20453761 20453761 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 20453761 20453761 T - DEL PUM2 ENST00000361078 human ensembl 74_37 -1 known frame_shift_del c.2891 p.K964fs 1.000 pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 84 0 0 65 14 17.7215 PARD3B 0 genome.wustl.edu 37 2 206166298 206166298 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 206166298 206166298 A - DEL PARD3B ENST00000406610 human ensembl 74_37 +1 known frame_shift_del c.2503 p.T837fs 0.996 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 88 0 0 42 16 27.5862 NDUFS1 0 genome.wustl.edu 37 2 207006766 207006768 + In_Frame_Del DEL AAG AAG - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 207006766 207006768 AAG - DEL NDUFS1 ENST00000455934 human ensembl 74_37 -1 known in_frame_del c.1203_1201 p.L401in_frame_del 0.933:1.000:1.000 pfam_Mopterin_OxRdtase,tigrfam_NADH_UbQ_OxRdtase_Gsu pfam_Mopterin_OxRdtase,pfam_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfam_NuoG_C,pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,smart_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfscan_2Fe-2S_ferredoxin-type,tigrfam_NADH_UbQ_OxRdtase_Gsu - no_errors NDUFS1 HGNC ENSG00000023228 51 0 0 29 9 23.6842 MAP2 0 genome.wustl.edu 37 2 210561667 210561667 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 210561667 210561667 A - DEL MAP2 ENST00000360351 human ensembl 74_37 +1 known frame_shift_del c.4414 p.T1474fs 1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 50 0 0 33 8 19.5122 ABCA12 0 genome.wustl.edu 37 2 215890463 215890463 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 215890463 215890463 T - DEL ABCA12 ENST00000272895 human ensembl 74_37 -1 known frame_shift_del c.1221 p.K407fs 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 77 0 0 32 14 30.4348 STK16 0 genome.wustl.edu 37 2 220110632 220110632 + RNA DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 220110632 220110632 C - DEL STK16 ENST00000486813 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors STK16 HGNC ENSG00000115661 18 0 0 12 3 20 DOCK10 0 genome.wustl.edu 37 2 225729790 225729790 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 225729790 225729790 A - DEL DOCK10 ENST00000258390 human ensembl 74_37 -1 known frame_shift_del c.1272 p.F424fs 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 136 0 0 74 22 22.9167 SP100 0 genome.wustl.edu 37 2 231379990 231379990 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 231379990 231379990 A - DEL SP100 ENST00000264052 human ensembl 74_37 +1 known frame_shift_del c.2275 p.K761fs 1.000 superfamily_HMG_box_dom pfam_Sp100,pfam_SAND_dom,pfam_HMG_box_dom,superfamily_SAND_dom-like,superfamily_HMG_box_dom,smart_SAND_dom,smart_HMG_box_dom,pfscan_SAND_dom,pfscan_HMG_box_dom - no_errors SP100 HGNC ENSG00000067066 113 0 0 69 24 25.8065 B3GNT7 0 genome.wustl.edu 37 2 232262821 232262822 + Frame_Shift_Ins INS - - G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 232262821 232262822 - G INS B3GNT7 ENST00000287590 human ensembl 74_37 +1 known frame_shift_ins c.391_392 p.D133fs 0.000:0.000 NULL pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT7 HGNC ENSG00000156966 56 0 0 47 7 12.963 ESPNL 0 genome.wustl.edu 37 2 239016577 239016577 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 239016577 239016577 C - DEL ESPNL ENST00000343063 human ensembl 74_37 +1 known frame_shift_del c.818 p.L275fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ESPNL HGNC ENSG00000144488 57 0 0 32 10 23.8095 CAD 0 genome.wustl.edu 37 2 27457496 27457496 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 27457496 27457496 G - DEL CAD ENST00000264705 human ensembl 74_37 +1 known frame_shift_del c.3729 p.E1245fs 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 87 0 0 60 15 20 SLC30A3 0 genome.wustl.edu 37 2 27478188 27478188 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 27478188 27478188 G - DEL SLC30A3 ENST00000233535 human ensembl 74_37 -1 known frame_shift_del c.1159 p.Q387fs 0.942 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A3 HGNC ENSG00000115194 123 0 0 74 21 22.1053 MSH6 0 genome.wustl.edu 37 2 48030639 48030640 + Frame_Shift_Ins INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 48030639 48030640 - C INS MSH6 ENST00000234420 human ensembl 74_37 +1 known frame_shift_ins c.3253_3254 p.F1088fs 0.001:0.003 pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 88 0 0 53 13 19.697 VRK2 0 genome.wustl.edu 37 2 58366815 58366815 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 58366815 58366815 T - DEL VRK2 ENST00000340157 human ensembl 74_37 +1 known frame_shift_del c.871 p.L292fs 0.935 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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,pfscan_Prot_kinase_dom - no_errors VRK2 HGNC ENSG00000028116 44 0 0 29 4 12.1212 FANCL 0 genome.wustl.edu 37 2 58392978 58392978 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 58392978 58392978 A - DEL FANCL ENST00000233741 human ensembl 74_37 -1 known frame_shift_del c.572 p.L191fs 1.000 pfam_FancL_WD-rpt_cont_dom pfam_FancL_WD-rpt_cont_dom - no_errors FANCL HGNC ENSG00000115392 120 1 0.826446 37 6 13.9535 BCL11A 0 genome.wustl.edu 37 2 60688199 60688200 + Frame_Shift_Ins INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 60688199 60688200 - C INS BCL11A ENST00000335712 human ensembl 74_37 -1 known frame_shift_ins c.1848_1847 p.L617fs 1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 65 0 0 38 12 24 ENSG00000273398 0 genome.wustl.edu 37 2 68385129 68385130 + Frame_Shift_Ins INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 68385129 68385130 - A INS ENSG00000273398 ENST00000406334 human ensembl 74_37 -1 known frame_shift_ins c.561_560 p.L187fs 0.018:0.026 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RP11-474G23.1 Clone_based_vega_gene ENSG00000273398 105 0 0 48 10 17.2414 FAHD2CP 0 genome.wustl.edu 37 2 96687157 96687157 + RNA DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 2 96687157 96687157 C - DEL FAHD2CP ENST00000443258 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FAHD2CP HGNC ENSG00000231584 21 0 0 17 4 19.0476 JAG1 0 genome.wustl.edu 37 20 10620245 10620245 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 10620245 10620245 G - DEL JAG1 ENST00000254958 human ensembl 74_37 -1 known frame_shift_del c.3558 p.N1187fs 1.000 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 343 1 0.290698 293 48 14.0762 PAX1 0 genome.wustl.edu 37 20 21690007 21690007 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 21690007 21690007 C - DEL PAX1 ENST00000398485 human ensembl 74_37 +1 known frame_shift_del c.1207 p.A406fs 1.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 76 0 0 62 9 12.6761 CD93 0 genome.wustl.edu 37 20 23066469 23066469 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 23066469 23066469 C - DEL CD93 ENST00000246006 human ensembl 74_37 -1 known frame_shift_del c.361 p.E121fs 0.689 pirsf_CD93/CD141,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 26 0 0 19 11 36.6667 CST1 0 genome.wustl.edu 37 20 23729754 23729754 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 23729754 23729754 C - DEL CST1 ENST00000304749 human ensembl 74_37 -1 known frame_shift_del c.241 p.V81fs 0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST1 HGNC ENSG00000170373 314 1 0.31746 298 25 7.73994 HM13 0 genome.wustl.edu 37 20 30142485 30142487 + RNA DEL AAA AAA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 30142485 30142487 AAA - DEL HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.172:0.159:0.155 - - - no_errors HM13 HGNC ENSG00000101294 34 0 0 22 12 35.2941 BPIFB4 0 genome.wustl.edu 37 20 31671214 31671214 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 31671214 31671214 C - DEL BPIFB4 ENST00000375483 human ensembl 74_37 +1 known frame_shift_del c.211 p.P73fs 0.030 NULL pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 158 1 0.628931 129 36 21.8182 ACSS2 0 genome.wustl.edu 37 20 33502206 33502206 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 33502206 33502206 C - DEL ACSS2 ENST00000253382 human ensembl 74_37 +1 known frame_shift_del c.800 p.P269fs 0.850 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS2 HGNC ENSG00000131069 51 0 0 39 7 15.2174 CPNE1 0 genome.wustl.edu 37 20 34214056 34214056 + RNA DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 34214056 34214056 A - DEL CPNE1 ENST00000498814 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors CPNE1 HGNC ENSG00000214078 148 0 0 115 24 17.2662 MMP9 0 genome.wustl.edu 37 20 44641172 44641172 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 44641172 44641172 G - DEL MMP9 ENST00000372330 human ensembl 74_37 +1 known frame_shift_del c.1281 p.431fs 0.420 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 128 0 0 118 27 18.6207 ARFGEF2 0 genome.wustl.edu 37 20 47605030 47605030 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 47605030 47605030 A - DEL ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known frame_shift_del c.2364 p.N790fs 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 83 0 0 42 15 26.3158 ZNFX1 0 genome.wustl.edu 37 20 47864399 47864399 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 47864399 47864399 T - DEL ZNFX1 ENST00000371752 human ensembl 74_37 -1 known frame_shift_del c.5162 p.K1721fs 0.050 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 272 0 0 239 45 15.8451 SPATA2 0 genome.wustl.edu 37 20 48522803 48522803 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 48522803 48522803 G - DEL SPATA2 ENST00000289431 human ensembl 74_37 -1 known frame_shift_del c.916 p.H306fs 0.960 NULL NULL - no_errors SPATA2 HGNC ENSG00000158480 150 0 0 148 27 15.4286 LAMA5 0 genome.wustl.edu 37 20 60897206 60897206 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 60897206 60897206 C - DEL LAMA5 ENST00000252999 human ensembl 74_37 -1 known frame_shift_del c.6365 p.G2122fs 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 31 0 0 31 8 20.5128 DIDO1 0 genome.wustl.edu 37 20 61513485 61513486 + Frame_Shift_Ins INS - - T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 61513485 61513486 - T INS DIDO1 ENST00000266070 human ensembl 74_37 -1 known frame_shift_ins c.3823_3822 p.V1274fs 0.001:0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 281 2 0.706714 237 50 17.4216 KCNQ2 0 genome.wustl.edu 37 20 62038661 62038661 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 62038661 62038661 G - DEL KCNQ2 ENST00000354587 human ensembl 74_37 -1 known frame_shift_del c.1979 p.P660fs 0.945 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 109 0 0 79 15 15.9574 RTEL1 0 genome.wustl.edu 37 20 62320919 62320920 + Frame_Shift_Ins INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 20 62320919 62320920 - C INS RTEL1 ENST00000318100 human ensembl 74_37 +1 known frame_shift_ins c.1943_1944 p.R651fs 0.991:0.994 superfamily_P-loop_NTPase,smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 46 0 0 45 12 21.0526 ITSN1 0 genome.wustl.edu 37 21 35122566 35122567 + Frame_Shift_Ins INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 35122566 35122567 - C INS ITSN1 ENST00000381285 human ensembl 74_37 +1 known frame_shift_ins c.465_466 p.L157fs 0.999:1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 124 0 0 88 18 16.9811 DSCAM 0 genome.wustl.edu 37 21 41710097 41710097 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 41710097 41710097 C - DEL DSCAM ENST00000400454 human ensembl 74_37 -1 known frame_shift_del c.1714 p.E572fs 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 187 0 0 113 31 21.5278 MCM3AP-AS1 0 genome.wustl.edu 37 21 47662900 47662902 + RNA DEL AAA AAA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 21 47662900 47662902 AAA - DEL MCM3AP-AS1 ENST00000421927 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors MCM3AP-AS1 HGNC ENSG00000215424 43 0 0 23 11 32.3529 IL17RA 0 genome.wustl.edu 37 22 17589491 17589491 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 17589491 17589491 G - DEL IL17RA ENST00000319363 human ensembl 74_37 +1 known frame_shift_del c.1382 p.A463fs 0.264 pfam_SEFIR pfam_SEFIR - no_errors IL17RA HGNC ENSG00000177663 89 0 0 51 17 25 MED15 0 genome.wustl.edu 37 22 20936976 20936976 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 20936976 20936976 C - DEL MED15 ENST00000263205 human ensembl 74_37 +1 known frame_shift_del c.1351 p.Q453fs 1.000 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 60 0 0 28 17 37.7778 PI4KA 0 genome.wustl.edu 37 22 21087260 21087261 + Frame_Shift_Ins INS - - G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 21087260 21087261 - G INS PI4KA ENST00000255882 human ensembl 74_37 -1 known frame_shift_ins c.4287_4286 p.D1430fs 0.999:1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 68 0 0 59 10 14.4928 LZTR1 0 genome.wustl.edu 37 22 21340148 21340150 + In_Frame_Del DEL CCT CCT - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 21340148 21340150 CCT - DEL LZTR1 ENST00000215739 human ensembl 74_37 +1 known in_frame_del c.282_284 p.L96in_frame_del 0.998:1.000:0.998 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 98 0 0 71 14 16.4706 GNAZ 0 genome.wustl.edu 37 22 23438487 23438488 + Frame_Shift_Ins INS - - G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 23438487 23438488 - G INS GNAZ ENST00000248996 human ensembl 74_37 +1 known frame_shift_ins c.605_606 p.Q205fs 1.000:1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 307 0 0 192 58 23.2 MN1 0 genome.wustl.edu 37 22 28146770 28146771 + RNA DEL AA AA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 28146770 28146771 AA - DEL MN1 ENST00000497225 human ensembl 74_37 -1 putative rna NULL NULL 0.985:0.973 - - - no_errors MN1 HGNC ENSG00000169184 12 0 0 5 3 37.5 MN1 0 genome.wustl.edu 37 22 28196403 28196403 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 28196403 28196403 C - DEL MN1 ENST00000302326 human ensembl 74_37 -1 known frame_shift_del c.129 p.P45fs 0.973 NULL NULL - no_errors MN1 HGNC ENSG00000169184 122 0 0 100 22 18.0328 OSM 0 genome.wustl.edu 37 22 30660116 30660117 + Frame_Shift_Ins INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 30660116 30660117 - C INS OSM ENST00000215781 human ensembl 74_37 -1 known frame_shift_ins c.515_514 p.A172fs 0.000:0.000 pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin - no_errors OSM HGNC ENSG00000099985 66 0 0 38 7 15.5556 SMTN 0 genome.wustl.edu 37 22 31485922 31485922 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 31485922 31485922 C - DEL SMTN ENST00000347557 human ensembl 74_37 +1 known frame_shift_del c.709 p.S239fs 0.420 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 20 0 0 20 8 28.5714 LIMK2 0 genome.wustl.edu 37 22 31672777 31672777 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 31672777 31672777 C - DEL LIMK2 ENST00000340552 human ensembl 74_37 +1 putative frame_shift_del c.1712 p.575fs 0.996 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,pfam_PP1_inhibitor,pfam_PDZ,pfam_Znf_LIM,superfamily_Kinase-like_dom,superfamily_PP1_inhibitor,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 35 0 0 23 6 20.6897 CELSR1 0 genome.wustl.edu 37 22 46761168 46761168 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 22 46761168 46761168 T - DEL CELSR1 ENST00000262738 human ensembl 74_37 -1 known frame_shift_del c.8514 p.K2838fs 0.040 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 50 0 0 30 22 42.3077 UMPS 0 genome.wustl.edu 37 3 124456635 124456636 + Frame_Shift_Ins INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 124456635 124456636 - A INS UMPS ENST00000232607 human ensembl 74_37 +1 known frame_shift_ins c.531_532 p.M178fs 0.237:0.015 tigrfam_Or_phspho_trans_dom pfam_OMPdeCOase_dom,pfam_PRibTrfase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_dom - no_errors UMPS HGNC ENSG00000114491 55 0 0 42 11 20.7547 PBX2P1 0 genome.wustl.edu 37 3 142895292 142895292 + RNA DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 142895292 142895292 G - DEL PBX2P1 ENST00000560287 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors PBX2P1 HGNC ENSG00000244171 86 0 0 48 17 26.1538 PLSCR1 0 genome.wustl.edu 37 3 146234963 146234963 + RNA DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 146234963 146234963 A - DEL PLSCR1 ENST00000484560 human ensembl 74_37 -1 putative rna NULL NULL 0.163 - - - no_errors PLSCR1 HGNC ENSG00000188313 41 0 0 24 8 25 TM4SF4 0 genome.wustl.edu 37 3 149192694 149192694 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 149192694 149192694 G - DEL TM4SF4 ENST00000305354 human ensembl 74_37 +1 known frame_shift_del c.30 p.T13fs 1.000 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF4 HGNC ENSG00000169903 60 0 0 36 13 26.5306 NR2C2 0 genome.wustl.edu 37 3 15084406 15084406 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 15084406 15084406 T - DEL NR2C2 ENST00000323373 human ensembl 74_37 +1 known frame_shift_del c.1739 p.F582fs 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 67 0 0 40 17 29.8246 IGSF10 0 genome.wustl.edu 37 3 151165427 151165427 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 151165427 151165427 G - DEL IGSF10 ENST00000282466 human ensembl 74_37 -1 known frame_shift_del c.2342 p.P781fs 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 92 0 0 63 22 25.8824 SMC4 0 genome.wustl.edu 37 3 160143940 160143940 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 160143940 160143940 A - DEL SMC4 ENST00000344722 human ensembl 74_37 +1 known frame_shift_del c.2557 p.K855fs 0.998 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,superfamily_Chemotax_Me-accpt_rcpt_lig-bd pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 234 0 0 180 45 20 MECOM 0 genome.wustl.edu 37 3 169381201 169381201 + RNA DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 169381201 169381201 T - DEL MECOM ENST00000485957 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MECOM HGNC ENSG00000085276 22 0 0 15 2 11.7647 FXR1 0 genome.wustl.edu 37 3 180666228 180666228 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 180666228 180666228 A - DEL FXR1 ENST00000357559 human ensembl 74_37 +1 known frame_shift_del c.364 p.N124fs 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC ENSG00000114416 84 0 0 48 7 12.7273 ATP11B 0 genome.wustl.edu 37 3 182602674 182602674 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 182602674 182602674 T - DEL ATP11B ENST00000323116 human ensembl 74_37 +1 known frame_shift_del c.2643 p.Y884fs 1.000 tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11B HGNC ENSG00000058063 69 0 0 26 11 29.7297 B3GNT5 0 genome.wustl.edu 37 3 182987674 182987674 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 182987674 182987674 T - DEL B3GNT5 ENST00000326505 human ensembl 74_37 +1 known frame_shift_del c.88 p.W32fs 0.912 NULL pfam_Glyco_trans_31,superfamily_Luciferase-like_dom - no_errors B3GNT5 HGNC ENSG00000176597 109 0 0 66 28 29.7872 ABCC5 0 genome.wustl.edu 37 3 183703209 183703209 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 183703209 183703209 C - DEL ABCC5 ENST00000443376 human ensembl 74_37 -1 known frame_shift_del c.626 p.G209fs 0.999 NULL NULL - no_errors ABCC5 HGNC ENSG00000114770 134 0 0 92 24 20.6897 ENSG00000232783 0 genome.wustl.edu 37 3 197838274 197838276 + RNA DEL AAA AAA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 197838274 197838276 AAA - DEL ENSG00000232783 ENST00000411596 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001:0.001 - - - no_errors AC073135.3 Clone_based_vega_gene ENSG00000232783 17 0 0 11 5 31.25 CLASP2 0 genome.wustl.edu 37 3 33686903 33686903 + RNA DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 33686903 33686903 A - DEL CLASP2 ENST00000476433 human ensembl 74_37 -1 known rna NULL NULL 0.963 - - - no_errors CLASP2 HGNC ENSG00000163539 46 0 0 22 7 24.1379 SCN10A 0 genome.wustl.edu 37 3 38781162 38781162 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 38781162 38781162 A - DEL SCN10A ENST00000449082 human ensembl 74_37 -1 known frame_shift_del c.2124 p.F708fs 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 61 0 0 31 14 31.1111 ZBTB47 0 genome.wustl.edu 37 3 42700957 42700957 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 42700957 42700957 C - DEL ZBTB47 ENST00000232974 human ensembl 74_37 +1 known frame_shift_del c.1110 p.P372fs 0.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB47 HGNC ENSG00000114853 31 0 0 14 3 17.6471 PBRM1 0 genome.wustl.edu 37 3 52643771 52643771 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 52643771 52643771 T - DEL PBRM1 ENST00000296302 human ensembl 74_37 -1 known frame_shift_del c.2125 p.I709fs 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 140 0 0 57 17 22.973 APPL1 0 genome.wustl.edu 37 3 57276921 57276921 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 57276921 57276921 A - DEL APPL1 ENST00000288266 human ensembl 74_37 +1 known frame_shift_del c.453 p.R154fs 0.881 NULL pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL1 HGNC ENSG00000157500 46 0 0 22 9 29.0323 DENND6A 0 genome.wustl.edu 37 3 57619023 57619023 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 57619023 57619023 A - DEL DENND6A ENST00000311128 human ensembl 74_37 -1 known frame_shift_del c.1322 p.L441fs 1.000 pfam_Afi1_N pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom - no_errors DENND6A HGNC ENSG00000174839 79 0 0 61 15 19.7368 FLNB 0 genome.wustl.edu 37 3 58067447 58067448 + Frame_Shift_Ins INS - - G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 58067447 58067448 - G INS FLNB ENST00000295956 human ensembl 74_37 +1 known frame_shift_ins c.731_732 p.A246fs 1.000:0.002 NULL pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 166 0 0 96 23 19.3277 ADAMTS9 0 genome.wustl.edu 37 3 64666919 64666919 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 64666919 64666919 G - DEL ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known frame_shift_del c.637 p.Q213fs 0.003 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 52 0 0 27 6 18.1818 FOXP1 0 genome.wustl.edu 37 3 71064695 71064698 + Splice_Site DEL CTTA CTTA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 CTTA CTTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 71064695 71064698 CTTA - DEL FOXP1 ENST00000318789 human ensembl 74_37 -1 known splice_site_del c.974+2_974+1 e7+2 1.000:1.000:1.000:1.000 - - - no_errors FOXP1 HGNC ENSG00000114861 50 0 0 26 7 21.2121 IL17RC 0 genome.wustl.edu 37 3 9958948 9958948 + RNA DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 3 9958948 9958948 G - DEL IL17RC ENST00000498214 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IL17RC HGNC ENSG00000163702 23 0 0 22 6 21.4286 LARP7 0 genome.wustl.edu 37 4 113570754 113570754 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 113570754 113570754 A - DEL LARP7 ENST00000324052 human ensembl 74_37 +1 known frame_shift_del c.1206 p.T405fs 1.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 22 0 0 10 5 33.3333 ANK2 0 genome.wustl.edu 37 4 114280135 114280135 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 114280135 114280135 G - DEL ANK2 ENST00000357077 human ensembl 74_37 +1 known frame_shift_del c.10361 p.G3456fs 0.005 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 92 0 0 54 15 21.7391 ANKRD50 0 genome.wustl.edu 37 4 125590728 125590728 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 125590728 125590728 G - DEL ANKRD50 ENST00000504087 human ensembl 74_37 -1 known frame_shift_del c.3704 p.P1235fs 1.000 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 296 0 0 178 41 18.7215 SCLT1 0 genome.wustl.edu 37 4 129864162 129864163 + Frame_Shift_Ins INS - - T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 129864162 129864163 - T INS SCLT1 ENST00000281142 human ensembl 74_37 -1 known frame_shift_ins c.1621_1620 p.A540fs 1.000:1.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 99 0 0 29 9 23.6842 RAB33B 0 genome.wustl.edu 37 4 140394218 140394218 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 140394218 140394218 C - DEL RAB33B ENST00000305626 human ensembl 74_37 +1 known frame_shift_del c.628 p.P211fs 1.000 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB33B HGNC ENSG00000172007 101 0 0 57 12 17.3913 ABCE1 0 genome.wustl.edu 37 4 146041093 146041093 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 146041093 146041093 T - DEL ABCE1 ENST00000296577 human ensembl 74_37 +1 known frame_shift_del c.932 p.L313fs 1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like 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 34 0 0 20 5 20 CPEB2 0 genome.wustl.edu 37 4 15067858 15067858 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 15067858 15067858 T - DEL CPEB2 ENST00000538197 human ensembl 74_37 +1 known frame_shift_del c.2959 p.C989fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 176 0 0 95 19 16.6667 ZFYVE28 0 genome.wustl.edu 37 4 2343294 2343294 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 2343294 2343294 G - DEL ZFYVE28 ENST00000290974 human ensembl 74_37 -1 known frame_shift_del c.229 p.Q77fs 0.244 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 115 1 0.862069 74 15 16.8539 TMEM33 0 genome.wustl.edu 37 4 41956157 41956159 + In_Frame_Del DEL AGA AGA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 41956157 41956159 AGA - DEL TMEM33 ENST00000325094 human ensembl 74_37 +1 known in_frame_del c.685_687 p.R230in_frame_del 1.000:1.000:1.000 pfam_UPF0121 pfam_UPF0121 - no_errors TMEM33 HGNC ENSG00000109133 120 0 0 64 16 20 USP46 0 genome.wustl.edu 37 4 53492314 53492314 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 53492314 53492314 T - DEL USP46 ENST00000441222 human ensembl 74_37 -1 known frame_shift_del c.432 p.K144fs 0.996 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP46 HGNC ENSG00000109189 56 0 0 26 6 18.75 AFM 0 genome.wustl.edu 37 4 74347531 74347532 + Frame_Shift_Ins INS - - T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 74347531 74347532 - T INS AFM ENST00000226355 human ensembl 74_37 +1 known frame_shift_ins c.39_40 p.L15fs 0.970:0.970 pirsf_Serum_albumin/AFP pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB,prints_Alpha-fetoprotein - no_errors AFM HGNC ENSG00000079557 51 0 0 21 4 16 C4orf26 0 genome.wustl.edu 37 4 76489680 76489680 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 76489680 76489680 A - DEL C4orf26 ENST00000435974 human ensembl 74_37 +1 putative frame_shift_del c.468 p.S159fs 0.001 NULL NULL - no_errors C4orf26 HGNC ENSG00000174792 128 1 0.775194 60 19 24.0506 ANTXR2 0 genome.wustl.edu 37 4 80905990 80905990 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 80905990 80905990 C - DEL ANTXR2 ENST00000307333 human ensembl 74_37 -1 known frame_shift_del c.1069 p.A357fs 0.559 pirsf_Anthrax_toxin_rcpt pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR2 HGNC ENSG00000163297 16 0 0 18 8 30.7692 FGF5 0 genome.wustl.edu 37 4 81188116 81188119 + Frame_Shift_Del DEL CAGA CAGA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 CAGA CAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 81188116 81188119 CAGA - DEL FGF5 ENST00000312465 human ensembl 74_37 +1 known frame_shift_del c.138_141 p.Q48fs 0.152:0.005:0.044:0.004 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF5 HGNC ENSG00000138675 139 0 0 75 20 21.0526 NKX6-1 0 genome.wustl.edu 37 4 85419145 85419145 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 4 85419145 85419145 C - DEL NKX6-1 ENST00000295886 human ensembl 74_37 -1 known frame_shift_del c.237 p.L80fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors NKX6-1 HGNC ENSG00000163623 27 0 0 15 4 21.0526 DMXL1 0 genome.wustl.edu 37 5 118469635 118469635 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 118469635 118469635 T - DEL DMXL1 ENST00000539542 human ensembl 74_37 +1 known frame_shift_del c.2016 p.F673fs 0.021 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 100 0 0 42 21 33.3333 HSD17B4 0 genome.wustl.edu 37 5 118810104 118810106 + In_Frame_Del DEL GAA GAA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 118810104 118810106 GAA - DEL HSD17B4 ENST00000256216 human ensembl 74_37 +1 known in_frame_del c.229_231 p.E78in_frame_del 1.000:1.000:1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR pfam_MaoC_dom,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 162 0 0 76 19 20 WDR55 0 genome.wustl.edu 37 5 140049102 140049102 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 140049102 140049102 A - DEL WDR55 ENST00000358337 human ensembl 74_37 +1 known frame_shift_del c.1015 p.K341fs 1.000 pirsf_WD_repeat_p55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR55 HGNC ENSG00000120314 61 0 0 29 8 21.6216 PCDHB1 0 genome.wustl.edu 37 5 140431111 140431111 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 140431111 140431111 T - DEL PCDHB1 ENST00000306549 human ensembl 74_37 +1 known frame_shift_del c.56 p.L21fs 0.814 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 93 0 0 50 16 24.2424 ARAP3 0 genome.wustl.edu 37 5 141052865 141052866 + RNA INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 141052865 141052866 - C INS ARAP3 ENST00000524066 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.001 - - - no_errors ARAP3 HGNC ENSG00000120318 22 0 0 14 3 17.6471 TRIO 0 genome.wustl.edu 37 5 14477004 14477004 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 14477004 14477004 T - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.6085 p.L2031fs 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 32 0 0 22 11 33.3333 TCERG1 0 genome.wustl.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 145886723 145886723 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863 p.K957fs 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 110 0 0 66 20 23.2558 LARP1 0 genome.wustl.edu 37 5 154173390 154173390 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 154173390 154173390 C - DEL LARP1 ENST00000336314 human ensembl 74_37 +1 known frame_shift_del c.668 p.T226fs 0.999 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 444 0 0 291 74 20.274 KIF4B 0 genome.wustl.edu 37 5 154395428 154395430 + In_Frame_Del DEL AAG AAG - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 154395428 154395430 AAG - DEL KIF4B ENST00000435029 human ensembl 74_37 +1 known in_frame_del c.2009_2011 p.E671in_frame_del 1.000:1.000:1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 174 0 0 87 30 25.641 SPDL1 0 genome.wustl.edu 37 5 169028407 169028410 + Frame_Shift_Del DEL AGAA AGAA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AGAA AGAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 169028407 169028410 AGAA - DEL SPDL1 ENST00000265295 human ensembl 74_37 +1 known frame_shift_del c.1448_1451 p.K484fs 0.000:0.002:0.021:0.018 NULL NULL - no_errors SPDL1 HGNC ENSG00000040275 108 0 0 71 21 22.8261 PROP1 0 genome.wustl.edu 37 5 177419762 177419762 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 177419762 177419762 G - DEL PROP1 ENST00000308304 human ensembl 74_37 -1 known frame_shift_del c.629 p.P210fs 0.917 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors PROP1 HGNC ENSG00000175325 28 0 0 23 5 17.8571 SLC1A3 0 genome.wustl.edu 37 5 36679799 36679799 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 36679799 36679799 G - DEL SLC1A3 ENST00000265113 human ensembl 74_37 +1 known frame_shift_del c.931 p.Q313fs 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A3 HGNC ENSG00000079215 288 0 0 181 37 16.9725 C5orf42 0 genome.wustl.edu 37 5 37196015 37196015 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 37196015 37196015 A - DEL C5orf42 ENST00000425232 human ensembl 74_37 -1 known frame_shift_del c.3756 p.F1252fs 0.953 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 67 0 0 40 11 21.5686 OSMR 0 genome.wustl.edu 37 5 38923329 38923329 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 38923329 38923329 A - DEL OSMR ENST00000274276 human ensembl 74_37 +1 known frame_shift_del c.1843 p.T617fs 0.981 pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC ENSG00000145623 56 0 0 35 11 23.913 RICTOR 0 genome.wustl.edu 37 5 38954826 38954826 + RNA DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 38954826 38954826 T - DEL RICTOR ENST00000503698 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RICTOR HGNC ENSG00000164327 28 0 0 7 4 36.3636 ITGA2 0 genome.wustl.edu 37 5 52351981 52351982 + Splice_Site INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 52351981 52351982 - A INS ITGA2 ENST00000296585 human ensembl 74_37 +1 known splice_site_ins c.1096+2_1096+1 e9+2 1.000:1.000 - - - no_errors ITGA2 HGNC ENSG00000164171 62 0 0 44 14 24.1379 AGGF1 0 genome.wustl.edu 37 5 76358967 76358967 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 76358967 76358967 A - DEL AGGF1 ENST00000312916 human ensembl 74_37 +1 known frame_shift_del c.2035 p.N681fs 1.000 NULL pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom - no_errors AGGF1 HGNC ENSG00000164252 310 0 0 198 49 19.8381 AP3B1 0 genome.wustl.edu 37 5 77334907 77334907 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 77334907 77334907 T - DEL AP3B1 ENST00000255194 human ensembl 74_37 -1 known frame_shift_del c.2769 p.K923fs 0.419 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 59 0 0 22 4 15.3846 FASTKD3 0 genome.wustl.edu 37 5 7867527 7867527 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 7867527 7867527 T - DEL FASTKD3 ENST00000264669 human ensembl 74_37 -1 known frame_shift_del c.670 p.S224fs 0.923 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD3 HGNC ENSG00000124279 141 0 0 84 18 17.6471 PAPD4 0 genome.wustl.edu 37 5 78936937 78936937 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 78936937 78936937 T - DEL PAPD4 ENST00000296783 human ensembl 74_37 +1 known frame_shift_del c.590 p.L199fs 1.000 NULL pfam_PAP_assoc - no_errors PAPD4 HGNC ENSG00000164329 180 0 0 98 27 21.6 CMYA5 0 genome.wustl.edu 37 5 79030062 79030062 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 79030062 79030062 A - DEL CMYA5 ENST00000446378 human ensembl 74_37 +1 known frame_shift_del c.5474 p.A1827fs 0.001 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 77 0 0 58 12 17.1429 MSH3 0 genome.wustl.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 79970915 79970915 A - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_del c.1141 p.K383fs 0.982 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 192 1 0.518135 103 20 16.2602 GLRX 0 genome.wustl.edu 37 5 95152332 95152333 + Splice_Site INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 5 95152332 95152333 - A INS GLRX ENST00000237858 human ensembl 74_37 -1 known splice_site_ins c.208-3_208-2 e2-2 0.908:0.008 - - - no_errors GLRX HGNC ENSG00000173221 53 0 0 43 7 14 CCNC 0 genome.wustl.edu 37 6 100006296 100006297 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 100006296 100006297 AA - DEL CCNC ENST00000482541 human ensembl 74_37 -1 putative frame_shift_del c.423_422 p.F141fs 0.007:0.028 superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNC HGNC ENSG00000112237 35 0 0 13 11 45.8333 ENSG00000271730 0 genome.wustl.edu 37 6 109319968 109319969 + RNA DEL AA AA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 109319968 109319969 AA - DEL ENSG00000271730 ENST00000605885 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-787I22.3 Clone_based_vega_gene ENSG00000271730 73 0 0 51 12 19.0476 GJA1 0 genome.wustl.edu 37 6 121768438 121768438 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 121768438 121768438 G - DEL GJA1 ENST00000282561 human ensembl 74_37 +1 known frame_shift_del c.445 p.L151fs 1.000 prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 127 0 0 94 22 18.9655 TRDN 0 genome.wustl.edu 37 6 123759209 123759209 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 123759209 123759209 T - DEL TRDN ENST00000398178 human ensembl 74_37 -1 known frame_shift_del c.1050 p.E351fs 1.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 26 0 0 6 2 25 RNF217 0 genome.wustl.edu 37 6 125397902 125397902 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 125397902 125397902 T - DEL RNF217 ENST00000560949 human ensembl 74_37 +1 known frame_shift_del c.676 p.F227fs 1.000 smart_Znf_C6HC pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC ENSG00000146373 154 0 0 108 31 22.3022 SOGA3 0 genome.wustl.edu 37 6 127794447 127794447 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 127794447 127794447 A - DEL SOGA3 ENST00000368268 human ensembl 74_37 -1 known frame_shift_del c.2823 p.F941fs 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 43 0 0 25 4 13.7931 SGK1 0 genome.wustl.edu 37 6 134491976 134491976 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 134491976 134491976 A - DEL SGK1 ENST00000367858 human ensembl 74_37 -1 known frame_shift_del c.1401 p.F467fs 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors SGK1 HGNC ENSG00000118515 199 0 0 144 26 15.2941 GINM1 0 genome.wustl.edu 37 6 149901801 149901801 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 149901801 149901801 T - DEL GINM1 ENST00000367419 human ensembl 74_37 +1 known frame_shift_del c.659 p.L221fs 0.395 NULL NULL - no_errors GINM1 HGNC ENSG00000055211 99 0 0 64 18 21.9512 EZR 0 genome.wustl.edu 37 6 159206452 159206452 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 159206452 159206452 G - DEL EZR ENST00000337147 human ensembl 74_37 -1 known frame_shift_del c.356 p.P119fs 0.998 pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors EZR HGNC ENSG00000092820 110 0 0 68 12 15 FGFR1OP 0 genome.wustl.edu 37 6 167413537 167413537 + RNA DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 167413537 167413537 T - DEL FGFR1OP ENST00000476078 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FGFR1OP HGNC ENSG00000213066 58 0 0 26 13 33.3333 DLL1 0 genome.wustl.edu 37 6 170594673 170594674 + Frame_Shift_Ins INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 170594673 170594674 - C INS DLL1 ENST00000366756 human ensembl 74_37 -1 known frame_shift_ins c.846_845 p.L283fs 0.973:1.000 smart_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 134 1 0.740741 80 18 18.3673 RBM24 0 genome.wustl.edu 37 6 17292449 17292450 + RNA DEL AA AA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 17292449 17292450 AA - DEL RBM24 ENST00000508508 human ensembl 74_37 +1 known rna NULL NULL 0.915:0.719 - - - no_errors RBM24 HGNC ENSG00000112183 42 0 0 25 7 21.875 PGBD1 0 genome.wustl.edu 37 6 28268660 28268660 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 28268660 28268660 A - DEL PGBD1 ENST00000259883 human ensembl 74_37 +1 known frame_shift_del c.1029 p.D346fs 0.992 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 102 0 0 76 20 20.8333 EHMT2 0 genome.wustl.edu 37 6 31852571 31852573 + In_Frame_Del DEL CTC CTC - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 31852571 31852573 CTC - DEL EHMT2 ENST00000395728 human ensembl 74_37 -1 known in_frame_del c.2625_2623 p.E875in_frame_del 0.926:0.993:0.996 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 25 0 0 15 4 21.0526 RGL2 0 genome.wustl.edu 37 6 33263965 33263965 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 33263965 33263965 C - DEL RGL2 ENST00000497454 human ensembl 74_37 -1 known frame_shift_del c.608 p.G203fs 1.000 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N 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 392 1 0.254453 251 57 18.5065 SCUBE3 0 genome.wustl.edu 37 6 35205699 35205699 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 35205699 35205699 G - DEL SCUBE3 ENST00000394681 human ensembl 74_37 +1 known frame_shift_del c.781 p.G262fs 1.000 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 214 0 0 126 30 19.2308 MDGA1 0 genome.wustl.edu 37 6 37615063 37615063 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 37615063 37615063 G - DEL MDGA1 ENST00000297153 human ensembl 74_37 -1 known frame_shift_del c.1941 p.N648fs 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 12 0 0 6 3 33.3333 OARD1 0 genome.wustl.edu 37 6 41037820 41037821 + Frame_Shift_Ins INS - - AT TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 41037820 41037821 - AT INS OARD1 ENST00000424266 human ensembl 74_37 -1 known frame_shift_ins c.238_237 p.Y79fs 1.000:1.000 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom - no_errors OARD1 HGNC ENSG00000124596 128 0 0 105 13 11.0169 RPP40 0 genome.wustl.edu 37 6 4995424 4995424 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 4995424 4995424 T - DEL RPP40 ENST00000380051 human ensembl 74_37 -1 known frame_shift_del c.980 p.N327fs 0.067 pfam_RNase_P_Rpp40 pfam_RNase_P_Rpp40 - no_errors RPP40 HGNC ENSG00000124787 67 0 0 39 11 22 HCRTR2 0 genome.wustl.edu 37 6 55039411 55039411 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 55039411 55039411 C - DEL HCRTR2 ENST00000370862 human ensembl 74_37 +1 known frame_shift_del c.26 p.P11fs 1.000 NULL pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt - no_errors HCRTR2 HGNC ENSG00000137252 242 0 0 131 31 19.1358 COL12A1 0 genome.wustl.edu 37 6 75866088 75866088 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 75866088 75866088 G - DEL COL12A1 ENST00000322507 human ensembl 74_37 -1 known frame_shift_del c.3135 p.T1046fs 0.377 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 117 0 0 69 16 18.8235 KIAA1009 0 genome.wustl.edu 37 6 84862351 84862351 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 84862351 84862351 T - DEL KIAA1009 ENST00000403245 human ensembl 74_37 -1 known frame_shift_del c.3542 p.N1181fs 0.804 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 12 0 0 12 4 25 HTR1E 0 genome.wustl.edu 37 6 87725847 87725847 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 87725847 87725847 C - DEL HTR1E ENST00000305344 human ensembl 74_37 +1 known frame_shift_del c.795 p.F268fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 289 0 0 164 47 22.2749 ZNF292 0 genome.wustl.edu 37 6 87966812 87966812 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 6 87966812 87966812 T - DEL ZNF292 ENST00000369577 human ensembl 74_37 +1 known frame_shift_del c.3465 p.L1157fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 65 0 0 36 9 20 MEPCE 0 genome.wustl.edu 37 7 100028068 100028068 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 100028068 100028068 G - DEL MEPCE ENST00000310512 human ensembl 74_37 +1 known frame_shift_del c.427 p.G145fs 0.496 NULL pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 42 0 0 36 7 16.2791 PCOLCE 0 genome.wustl.edu 37 7 100205413 100205414 + Frame_Shift_Ins INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 100205413 100205414 - C INS PCOLCE ENST00000223061 human ensembl 74_37 +1 known frame_shift_ins c.1166_1167 p.M392fs 0.992:0.880 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain - no_errors PCOLCE HGNC ENSG00000106333 105 0 0 97 8 7.61905 SRRT 0 genome.wustl.edu 37 7 100479331 100479332 + Frame_Shift_Ins INS - - G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 100479331 100479332 - G INS SRRT ENST00000388793 human ensembl 74_37 +1 known frame_shift_ins c.303_304 p.G104fs 0.996:1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 88 0 0 82 13 13.6842 PLOD3 0 genome.wustl.edu 37 7 100855926 100855927 + Frame_Shift_Ins INS - - G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 100855926 100855927 - G INS PLOD3 ENST00000223127 human ensembl 74_37 -1 known frame_shift_ins c.890_889 p.R297fs 1.000:1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 76 0 0 79 19 19.3878 ALKBH4 0 genome.wustl.edu 37 7 102098353 102098353 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 102098353 102098353 G - DEL ALKBH4 ENST00000292566 human ensembl 74_37 -1 known frame_shift_del c.397 p.R133fs 0.988 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH4 HGNC ENSG00000160993 82 0 0 55 8 12.6984 SLC26A5 0 genome.wustl.edu 37 7 103061308 103061308 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 103061308 103061308 T - DEL SLC26A5 ENST00000306312 human ensembl 74_37 -1 known frame_shift_del c.169 p.I57fs 1.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A5 HGNC ENSG00000170615 73 0 0 67 9 11.8421 NRCAM 0 genome.wustl.edu 37 7 107878215 107878215 + Splice_Site DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 107878215 107878215 T - DEL NRCAM ENST00000379028 human ensembl 74_37 -1 known splice_site_del c.107-2 e2-2 1.000 - - - no_errors NRCAM HGNC ENSG00000091129 27 0 0 18 4 18.1818 CAV1 0 genome.wustl.edu 37 7 116165158 116165159 + Frame_Shift_Ins INS - - G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 116165158 116165159 - G INS CAV1 ENST00000451122 human ensembl 74_37 +1 known frame_shift_ins c.42_43 p.A16fs 0.017:0.055 NULL NULL - no_errors CAV1 HGNC ENSG00000105974 268 1 0.371747 202 89 30.5842 GRM8 0 genome.wustl.edu 37 7 126173277 126173278 + Frame_Shift_Ins INS - - G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 126173277 126173278 - G INS GRM8 ENST00000339582 human ensembl 74_37 -1 known frame_shift_ins c.2159_2158 p.H720fs 1.000:0.999 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 56 0 0 43 9 17.3077 GRM8 0 genome.wustl.edu 37 7 126173396 126173396 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 126173396 126173396 C - DEL GRM8 ENST00000339582 human ensembl 74_37 -1 known frame_shift_del c.2040 p.K681fs 0.866 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 115 0 0 65 15 18.75 SND1 0 genome.wustl.edu 37 7 127326797 127326798 + Frame_Shift_Ins INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 127326797 127326798 - A INS SND1 ENST00000354725 human ensembl 74_37 +1 known frame_shift_ins c.209_210 p.D72fs 0.998:0.946 pfam_Staphylococal_nuclease_OB-fold,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococal_nuclease_OB-fold pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 138 0 0 130 20 13.3333 SND1 0 genome.wustl.edu 37 7 127447605 127447606 + Frame_Shift_Ins INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 127447605 127447606 - A INS SND1 ENST00000354725 human ensembl 74_37 +1 known frame_shift_ins c.1220_1221 p.L410fs 1.000:1.000 pfam_Staphylococal_nuclease_OB-fold,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococal_nuclease_OB-fold pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 101 0 0 57 11 16.1765 OR9A4 0 genome.wustl.edu 37 7 141619203 141619203 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 141619203 141619203 T - DEL OR9A4 ENST00000548136 human ensembl 74_37 +1 known frame_shift_del c.528 p.C179fs 0.509 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9A4 HGNC ENSG00000258083 174 1 0.571429 123 70 36.2694 TPK1 0 genome.wustl.edu 37 7 144364909 144364909 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 144364909 144364909 G - DEL TPK1 ENST00000482940 human ensembl 74_37 -1 known frame_shift_del c.138 p.S47fs 0.000 NULL NULL - no_errors TPK1 HGNC ENSG00000196511 97 0 0 71 29 29 OSBPL3 0 genome.wustl.edu 37 7 24856292 24856292 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 24856292 24856292 T - DEL OSBPL3 ENST00000313367 human ensembl 74_37 -1 known frame_shift_del c.1964 p.N655fs 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 114 0 0 92 19 17.1171 HOXA3 0 genome.wustl.edu 37 7 27147982 27147982 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 27147982 27147982 G - DEL HOXA3 ENST00000317201 human ensembl 74_37 -1 known frame_shift_del c.884 p.P295fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 90 0 0 66 15 18.5185 CARD11 0 genome.wustl.edu 37 7 2968323 2968323 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 2968323 2968323 G - DEL CARD11 ENST00000396946 human ensembl 74_37 -1 known frame_shift_del c.1663 p.R555fs 0.080 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 143 0 0 115 58 33.526 ELMO1 0 genome.wustl.edu 37 7 37311468 37311468 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 37311468 37311468 T - DEL ELMO1 ENST00000310758 human ensembl 74_37 -1 known frame_shift_del c.212 p.N71fs 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 82 0 0 51 13 20.3125 INHBA 0 genome.wustl.edu 37 7 41730049 41730049 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 41730049 41730049 T - DEL INHBA ENST00000242208 human ensembl 74_37 -1 known frame_shift_del c.480 p.V161fs 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 141 0 0 110 17 13.3858 HECW1 0 genome.wustl.edu 37 7 43591890 43591891 + Frame_Shift_Ins INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 43591890 43591891 - A INS HECW1 ENST00000395891 human ensembl 74_37 +1 known frame_shift_ins c.4465_4466 p.I1490fs 1.000:1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 123 0 0 94 24 20.339 MYL7 0 genome.wustl.edu 37 7 44178493 44178494 + RNA INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 44178493 44178494 - C INS MYL7 ENST00000434895 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MYL7 HGNC ENSG00000106631 58 0 0 55 13 19.1176 ZMIZ2 0 genome.wustl.edu 37 7 44806211 44806211 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 44806211 44806211 G - DEL ZMIZ2 ENST00000309315 human ensembl 74_37 +1 known frame_shift_del c.2604 p.872fs 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 104 0 0 95 23 19.4915 DDC 0 genome.wustl.edu 37 7 50595863 50595864 + Frame_Shift_Del DEL TC TC - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 50595863 50595864 TC - DEL DDC ENST00000357936 human ensembl 74_37 -1 known frame_shift_del c.686_685 p.D229fs 1.000:1.000 pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors DDC HGNC ENSG00000132437 124 0 0 90 26 22.4138 ZNF716 0 genome.wustl.edu 37 7 57528542 57528542 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 57528542 57528542 A - DEL ZNF716 ENST00000420713 human ensembl 74_37 +1 known frame_shift_del c.375 p.K127fs 0.128 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF716 HGNC ENSG00000182111 52 0 0 44 11 20 PMS2CL 0 genome.wustl.edu 37 7 6791127 6791127 + RNA DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 6791127 6791127 A - DEL PMS2CL ENST00000486256 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors PMS2CL HGNC ENSG00000187953 26 0 0 19 6 24 POM121C 0 genome.wustl.edu 37 7 75070840 75070840 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 75070840 75070840 C - DEL POM121C ENST00000257665 human ensembl 74_37 -1 known frame_shift_del c.661 p.V221fs 0.642 NULL NULL - no_errors POM121C HGNC ENSG00000135213 33 0 0 31 7 18.4211 UPK3B 0 genome.wustl.edu 37 7 76139983 76139983 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 76139983 76139983 G - DEL UPK3B ENST00000257632 human ensembl 74_37 +1 known frame_shift_del c.14 p.Q7fs 0.000 NULL NULL - no_errors UPK3B HGNC ENSG00000243566 49 0 0 47 12 20.339 DTX2P1-UPK3BP1-PMS2P11 0 genome.wustl.edu 37 7 76610355 76610356 + RNA INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 76610355 76610356 - C INS DTX2P1-UPK3BP1-PMS2P11 ENST00000584900 human ensembl 74_37 +1 known rna NULL NULL 0.918:0.847 - - - no_errors DTX2P1-UPK3BP1-PMS2P11 HGNC ENSG00000265479 229 2 0.865801 201 37 15.5462 PTPN12 0 genome.wustl.edu 37 7 77256685 77256686 + Frame_Shift_Ins INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 77256685 77256686 - A INS PTPN12 ENST00000248594 human ensembl 74_37 +1 known frame_shift_ins c.1689_1690 p.T564fs 0.090:0.974 pirsf_Ptpn_12 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 170 0 0 146 29 16.5714 SAMD9L 0 genome.wustl.edu 37 7 92761061 92761061 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 92761061 92761061 T - DEL SAMD9L ENST00000318238 human ensembl 74_37 -1 known frame_shift_del c.4224 p.K1408fs 0.665 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 276 0 0 222 16 6.72269 TRRAP 0 genome.wustl.edu 37 7 98547123 98547123 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 7 98547123 98547123 G - DEL TRRAP ENST00000359863 human ensembl 74_37 +1 known frame_shift_del c.4851 p.G1619fs 0.003 NULL pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 97 0 0 81 16 16.4948 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 111 0 0 47 17 26.5625 KLF10 0 genome.wustl.edu 37 8 103663533 103663534 + Frame_Shift_Del DEL GA GA - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 103663533 103663534 GA - DEL KLF10 ENST00000285407 human ensembl 74_37 -1 known frame_shift_del c.1027_1026 p.P343fs 1.000:0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF10 HGNC ENSG00000155090 150 0 0 65 19 22.619 KHDRBS3 0 genome.wustl.edu 37 8 136594256 136594256 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 136594256 136594256 C - DEL KHDRBS3 ENST00000355849 human ensembl 74_37 +1 known frame_shift_del c.747 p.P251fs 0.001 NULL smart_KH_dom - no_errors KHDRBS3 HGNC ENSG00000131773 74 0 0 45 7 13.4615 AGO2 0 genome.wustl.edu 37 8 141554345 141554345 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 141554345 141554345 G - DEL AGO2 ENST00000220592 human ensembl 74_37 -1 known frame_shift_del c.1806 p.A603fs 0.203 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 289 2 0.687285 208 42 16.8 GRINA 0 genome.wustl.edu 37 8 145065457 145065457 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 145065457 145065457 G - DEL GRINA ENST00000313269 human ensembl 74_37 +1 known frame_shift_del c.66 p.26fs 0.997 NULL pfam_Bax_inhibitor_1-related - no_errors GRINA HGNC ENSG00000178719 53 0 0 25 6 19.3548 ENSG00000204791 0 genome.wustl.edu 37 8 145106383 145106384 + RNA INS - - G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 145106383 145106384 - G INS ENSG00000204791 ENST00000528912 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors CTD-3065J16.6 Clone_based_vega_gene ENSG00000204791 28 0 0 26 5 16.129 ZNF7 0 genome.wustl.edu 37 8 146067178 146067178 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 146067178 146067178 A - DEL ZNF7 ENST00000325241 human ensembl 74_37 +1 known frame_shift_del c.686 p.K231fs 0.004 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF7 HGNC ENSG00000147789 97 0 0 81 32 28.3186 BMP1 0 genome.wustl.edu 37 8 22034447 22034447 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 22034447 22034447 C - DEL BMP1 ENST00000518656 human ensembl 74_37 +1 known frame_shift_del c.562 p.*190fs 1.000 NULL pfam_Peptidase_M12A - no_errors BMP1 HGNC ENSG00000168487 22 0 0 10 3 23.0769 DOCK5 0 genome.wustl.edu 37 8 25240190 25240190 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 25240190 25240190 A - DEL DOCK5 ENST00000276440 human ensembl 74_37 +1 known frame_shift_del c.4027 p.R1345fs 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 13 0 0 3 6 66.6667 GOT1L1 0 genome.wustl.edu 37 8 37791834 37791834 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 37791834 37791834 T - DEL GOT1L1 ENST00000307599 human ensembl 74_37 -1 known frame_shift_del c.1243 p.T415fs 0.000 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans - no_errors GOT1L1 HGNC ENSG00000169154 109 0 0 56 19 25.3333 MCM4 0 genome.wustl.edu 37 8 48883978 48883979 + Frame_Shift_Ins INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 48883978 48883979 - A INS MCM4 ENST00000262105 human ensembl 74_37 +1 known frame_shift_ins c.1878_1879 p.T628fs 0.042:1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4 pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 65 0 0 42 9 17.6471 ST18 0 genome.wustl.edu 37 8 53055565 53055565 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 53055565 53055565 T - DEL ST18 ENST00000276480 human ensembl 74_37 -1 known frame_shift_del c.2093 p.K698fs 0.999 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 89 0 0 49 9 15.5172 ARMC1 0 genome.wustl.edu 37 8 66517737 66517737 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 66517737 66517737 T - DEL ARMC1 ENST00000276569 human ensembl 74_37 -1 known frame_shift_del c.502 p.I168fs 1.000 superfamily_HeavyMe-assoc_HMA,pirsf_UCP013899_metal-bd pfam_Armadillo,superfamily_ARM-type_fold,superfamily_HeavyMe-assoc_HMA,pirsf_UCP013899_metal-bd - no_errors ARMC1 HGNC ENSG00000104442 54 0 0 30 4 11.7647 SULF1 0 genome.wustl.edu 37 8 70541813 70541815 + In_Frame_Del DEL AGG AGG - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 70541813 70541815 AGG - DEL SULF1 ENST00000260128 human ensembl 74_37 +1 known in_frame_del c.2183_2185 p.E729in_frame_del 1.000:1.000:1.000 superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 141 0 0 97 13 11.8182 KCNB2 0 genome.wustl.edu 37 8 73480092 73480092 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 73480092 73480092 G - DEL KCNB2 ENST00000523207 human ensembl 74_37 +1 known frame_shift_del c.123 p.G43fs 0.906 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 pfam_K_chnl_volt-dep_Kv2,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_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 160 1 0.621118 110 29 20.8633 CA2 0 genome.wustl.edu 37 8 86386635 86386635 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 86386635 86386635 T - DEL CA2 ENST00000285379 human ensembl 74_37 +1 known frame_shift_del c.434 p.L147fs 0.362 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA2 HGNC ENSG00000104267 150 0 0 97 28 22.4 OSGIN2 0 genome.wustl.edu 37 8 90937617 90937618 + Frame_Shift_Ins INS - - T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 90937617 90937618 - T INS OSGIN2 ENST00000451899 human ensembl 74_37 +1 known frame_shift_ins c.1507_1508 p.A505fs 1.000:1.000 NULL NULL - no_errors OSGIN2 HGNC ENSG00000164823 165 0 0 101 27 21.0938 NBN 0 genome.wustl.edu 37 8 90949256 90949256 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 90949256 90949256 A - DEL NBN ENST00000265433 human ensembl 74_37 -1 known frame_shift_del c.2232 p.F744fs 1.000 pfam_DNA-repair_Nbs1_C,pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 62 0 0 19 4 17.3913 SLC26A7 0 genome.wustl.edu 37 8 92401630 92401631 + Frame_Shift_Ins INS - - T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 8 92401630 92401631 - T INS SLC26A7 ENST00000309536 human ensembl 74_37 +1 known frame_shift_ins c.1740_1741 p.D582fs 1.000:1.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 249 0 0 151 41 21.3542 INVS 0 genome.wustl.edu 37 9 103054983 103054983 + Frame_Shift_Del DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 103054983 103054983 G - DEL INVS ENST00000262457 human ensembl 74_37 +1 known frame_shift_del c.2444 p.E817fs 0.977 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 118 0 0 64 14 17.9487 BAAT 0 genome.wustl.edu 37 9 104133686 104133686 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 104133686 104133686 T - DEL BAAT ENST00000259407 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 0.425 pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors BAAT HGNC ENSG00000136881 48 0 0 22 6 21.4286 ZNF462 0 genome.wustl.edu 37 9 109689491 109689491 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 109689491 109689491 C - DEL ZNF462 ENST00000457913 human ensembl 74_37 +1 known frame_shift_del c.3298 p.P1102fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 37 0 0 27 10 27.027 RGS3 0 genome.wustl.edu 37 9 116246504 116246506 + In_Frame_Del DEL CTT CTT - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 116246504 116246506 CTT - DEL RGS3 ENST00000350696 human ensembl 74_37 +1 known in_frame_del c.612_614 p.F207in_frame_del 1.000:1.000:1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 91 0 0 58 11 15.942 SLC2A8 0 genome.wustl.edu 37 9 130166382 130166382 + RNA DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 130166382 130166382 C - DEL SLC2A8 ENST00000485806 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC2A8 HGNC ENSG00000136856 33 0 0 20 4 16.6667 CIZ1 0 genome.wustl.edu 37 9 130943046 130943047 + Frame_Shift_Ins INS - - G TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 130943046 130943047 - G INS CIZ1 ENST00000538431 human ensembl 74_37 -1 known frame_shift_ins c.636_635 p.E213fs 0.895:0.920 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 133 0 0 97 11 10.1852 MPDZ 0 genome.wustl.edu 37 9 13110660 13110660 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 13110660 13110660 T - DEL MPDZ ENST00000319217 human ensembl 74_37 -1 known frame_shift_del c.5804 p.N1935fs 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 39 0 0 22 6 21.4286 NUP188 0 genome.wustl.edu 37 9 131718643 131718643 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 131718643 131718643 A - DEL NUP188 ENST00000372577 human ensembl 74_37 +1 known frame_shift_del c.176 p.V61fs 1.000 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 32 0 0 17 5 22.7273 C9orf78 0 genome.wustl.edu 37 9 132596001 132596001 + RNA DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 132596001 132596001 A - DEL C9orf78 ENST00000461762 human ensembl 74_37 -1 known rna NULL NULL 0.115 - - - no_errors C9orf78 HGNC ENSG00000136819 24 0 0 28 6 17.6471 DDX31 0 genome.wustl.edu 37 9 135537941 135537941 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 135537941 135537941 T - DEL DDX31 ENST00000372159 human ensembl 74_37 -1 known frame_shift_del c.532 p.M178fs 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX31 HGNC ENSG00000125485 140 0 0 79 24 23.301 TRAF2 0 genome.wustl.edu 37 9 139820211 139820212 + Frame_Shift_Ins INS - - T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 139820211 139820212 - T INS TRAF2 ENST00000359662 human ensembl 74_37 +1 known frame_shift_ins c.1520_1521 p.Q509fs 1.000:0.959 pfam_MATH,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 116 0 0 64 29 31.1828 NOXA1 0 genome.wustl.edu 37 9 140325730 140325730 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 140325730 140325730 C - DEL NOXA1 ENST00000341349 human ensembl 74_37 +1 known frame_shift_del c.741 p.L249fs 0.001 NULL pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_TPR_repeat,smart_OPR_PB1,smart_SH3_domain,pfscan_SH3_domain,pfscan_TPR-contain_dom - no_errors NOXA1 HGNC ENSG00000188747 180 0 0 124 34 21.519 C9orf72 0 genome.wustl.edu 37 9 27548406 27548406 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 27548406 27548406 T - DEL C9orf72 ENST00000380003 human ensembl 74_37 -1 known frame_shift_del c.1274 p.K425fs 1.000 NULL NULL - no_errors C9orf72 HGNC ENSG00000147894 64 0 0 23 2 8 NFX1 0 genome.wustl.edu 37 9 33294844 33294846 + In_Frame_Del DEL CTT CTT - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 33294844 33294846 CTT - DEL NFX1 ENST00000379540 human ensembl 74_37 +1 known in_frame_del c.452_454 p.S152in_frame_del 1.000:1.000:1.000 NULL pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd - no_errors NFX1 HGNC ENSG00000086102 155 0 0 85 32 27.3504 VCP 0 genome.wustl.edu 37 9 35059647 35059647 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 35059647 35059647 T - DEL VCP ENST00000358901 human ensembl 74_37 -1 known frame_shift_del c.1847 p.N616fs 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 - no_errors VCP HGNC ENSG00000165280 139 0 0 85 24 22.0183 FAM214B 0 genome.wustl.edu 37 9 35108148 35108148 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 35108148 35108148 C - DEL FAM214B ENST00000322813 human ensembl 74_37 -1 known frame_shift_del c.124 p.A42fs 0.584 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 28 0 0 23 5 17.8571 TESK1 0 genome.wustl.edu 37 9 35607307 35607308 + RNA INS - - TG TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 35607307 35607308 - TG INS TESK1 ENST00000463897 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors TESK1 HGNC ENSG00000107140 119 0 0 87 15 14.7059 RLN2 0 genome.wustl.edu 37 9 5304560 5304561 + Frame_Shift_Ins INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 5304560 5304561 - A INS RLN2 ENST00000381627 human ensembl 74_37 -1 known frame_shift_ins c.21_20 p.H8fs 0.091:0.078 prints_Relaxin pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family - no_errors RLN2 HGNC ENSG00000107014 153 0 0 106 17 13.8211 ERMP1 0 genome.wustl.edu 37 9 5801292 5801292 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 5801292 5801292 T - DEL ERMP1 ENST00000339450 human ensembl 74_37 -1 known frame_shift_del c.1951 p.T651fs 0.994 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 67 0 0 32 11 25.5814 VPS13A 0 genome.wustl.edu 37 9 79984308 79984308 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 79984308 79984308 T - DEL VPS13A ENST00000360280 human ensembl 74_37 +1 known frame_shift_del c.8647 p.Y2885fs 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 114 0 0 57 11 16.1765 TLE4 0 genome.wustl.edu 37 9 82335100 82335100 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 82335100 82335100 C - DEL TLE4 ENST00000376520 human ensembl 74_37 +1 known frame_shift_del c.1826 p.A611fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 103 0 0 73 19 20.6522 SPATA31D1 0 genome.wustl.edu 37 9 84606643 84606643 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 84606643 84606643 A - DEL SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known frame_shift_del c.1258 p.R422fs 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 59 0 0 33 8 19.5122 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 24 0 0 8 3 27.2727 BTK 0 genome.wustl.edu 37 X 100609023 100609024 + RNA INS - - T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 100609023 100609024 - T INS BTK ENST00000488970 human ensembl 74_37 -1 known rna NULL NULL 0.144:0.154 - - - no_errors BTK HGNC ENSG00000010671 103 0 0 67 21 23.8636 FHL1 0 genome.wustl.edu 37 X 135289288 135289289 + Frame_Shift_Ins INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 135289288 135289289 - A INS FHL1 ENST00000345434 human ensembl 74_37 +1 known frame_shift_ins c.270_271 p.C91fs 1.000:1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL1 HGNC ENSG00000022267 250 0 0 170 37 17.8744 AFF2 0 genome.wustl.edu 37 X 147733548 147733548 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 147733548 147733548 A - DEL AFF2 ENST00000370460 human ensembl 74_37 +1 known frame_shift_del c.76 p.R28fs 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 295 2 0.673401 244 41 14.386 ENSG00000270726 0 genome.wustl.edu 37 X 155255057 155255058 + RNA INS - - C TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 155255057 155255058 - C INS ENSG00000270726 ENST00000285718 human ensembl 74_37 +1 known rna NULL NULL 0.069:0.076 - - - no_errors AJ271736.10 Clone_based_vega_gene ENSG00000270726 51 0 0 32 6 15.7895 MBTPS2 0 genome.wustl.edu 37 X 21887644 21887644 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 21887644 21887644 T - DEL MBTPS2 ENST00000379484 human ensembl 74_37 +1 known frame_shift_del c.818 p.F274fs 1.000 pfam_Peptidase_M50,superfamily_PDZ pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2 - no_errors MBTPS2 HGNC ENSG00000012174 152 0 0 98 30 23.4375 DDX3X 0 genome.wustl.edu 37 X 41205517 41205517 + Frame_Shift_Del DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 41205517 41205517 A - DEL DDX3X ENST00000399959 human ensembl 74_37 +1 known frame_shift_del c.1351 p.K452fs 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 221 0 0 108 29 21.1679 MAGED1 0 genome.wustl.edu 37 X 51643311 51643311 + Frame_Shift_Del DEL C C - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 51643311 51643311 C - DEL MAGED1 ENST00000375695 human ensembl 74_37 +1 known frame_shift_del c.2046 p.P684fs 1.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 79 0 0 36 8 18.1818 HUWE1 0 genome.wustl.edu 37 X 53658442 53658442 + RNA DEL A A - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 53658442 53658442 A - DEL HUWE1 ENST00000471676 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors HUWE1 HGNC ENSG00000086758 57 0 0 13 20 60.6061 FGD1 0 genome.wustl.edu 37 X 54497113 54497114 + Frame_Shift_Ins INS - - T TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 54497113 54497114 - T INS FGD1 ENST00000375135 human ensembl 74_37 -1 known frame_shift_ins c.562_561 p.L187fs 0.997:0.664 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 33 0 0 23 5 17.8571 SNX12 0 genome.wustl.edu 37 X 70288194 70288194 + RNA DEL G G - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 70288194 70288194 G - DEL SNX12 ENST00000465030 human ensembl 74_37 -1 known rna NULL NULL 0.965 - - - no_errors SNX12 HGNC ENSG00000147164 20 0 0 18 6 25 TAF1 0 genome.wustl.edu 37 X 70602999 70603000 + Frame_Shift_Ins INS - - A TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 70602999 70603000 - A INS TAF1 ENST00000449580 human ensembl 74_37 +1 known frame_shift_ins c.1929_1930 p.A646fs 1.000:1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 64 0 0 37 6 13.9535 CYSLTR1 0 genome.wustl.edu 37 X 77528587 77528587 + Frame_Shift_Del DEL T T - TCGA-HU-A4GX-01A-12D-A25D-08 TCGA-HU-A4GX-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fffb9288-14f9-4466-b7a2-7aa1743792ff a82c8c45-753a-4815-83d7-c249a1638801 X 77528587 77528587 T - DEL CYSLTR1 ENST00000373304 human ensembl 74_37 -1 known frame_shift_del c.657 p.K219fs 0.005 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_CLT1_recept,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors CYSLTR1 HGNC ENSG00000173198 46 0 0 23 6 20.6897