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 A1BG 0 genome.wustl.edu 37 19 58858758 58858758 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 19 58858758 58858758 C T SNP A1BG ENST00000263100 human ensembl 74_37 -1 known missense c.1441 p.E481K 0.000 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors A1BG HGNC ENSG00000121410 tier1 - - 72 0 0.00 52 17 24.64 AFAP1L1 0 genome.wustl.edu 37 5 148685960 148685960 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 5 148685960 148685960 G C SNP AFAP1L1 ENST00000296721 human ensembl 74_37 +1 known missense c.528 p.K176N 0.993 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC ENSG00000157510 tier1 - - 36 0 0.00 27 23 46.00 AMFR 0 genome.wustl.edu 37 16 56397849 56397849 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 16 56397849 56397849 G A SNP AMFR ENST00000290649 human ensembl 74_37 -1 known missense c.1768 p.L590F 1.000 NULL pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING - no_errors AMFR HGNC ENSG00000159461 tier1 - - 100 0 0.00 54 24 30.77 AMFR 0 genome.wustl.edu 37 16 56397909 56397909 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 16 56397909 56397909 G A SNP AMFR ENST00000290649 human ensembl 74_37 -1 known missense c.1708 p.R570C 1.000 NULL pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING - no_errors AMFR HGNC ENSG00000159461 tier1 - - 97 0 0.00 11 78 87.64 ANKS4B 0 genome.wustl.edu 37 16 21262073 21262073 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 16 21262073 21262073 C T SNP ANKS4B ENST00000311620 human ensembl 74_37 +1 known silent c.1186 p.L396 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKS4B HGNC ENSG00000175311 tier1 - - 192 0 0.00 82 55 39.86 ASRGL1 0 genome.wustl.edu 37 11 62124549 62124549 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 62124549 62124549 G C SNP ASRGL1 ENST00000301776 human ensembl 74_37 +1 known missense c.424 p.E142Q 0.979 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors ASRGL1 HGNC ENSG00000162174 tier1 - - 100 0 0.00 42 33 44.00 ATF3 0 genome.wustl.edu 37 1 212792825 212792825 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 212792825 212792825 G C SNP ATF3 ENST00000341491 human ensembl 74_37 +1 known missense c.474 p.Q158H 1.000 prints_Leuzip_Fos pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors ATF3 HGNC ENSG00000162772 tier1 - - 97 0 0.00 81 39 32.23 ATP8B4 0 genome.wustl.edu 37 15 50264940 50264940 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 50264940 50264940 C T SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.1082 p.R361Q 0.998 tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase 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 ATP8B4 HGNC ENSG00000104043 tier1 - - 63 0 0.00 11 20 64.52 B2M 0 genome.wustl.edu 37 15 45007719 45007719 + Nonsense_Mutation SNP G G T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 45007719 45007719 G T SNP B2M ENST00000544417 human ensembl 74_37 +1 known nonsense c.166 p.E56* 0.202 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 tier1 - - 209 0 0.00 110 57 34.13 B2M 0 genome.wustl.edu 37 15 45007752 45007752 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 45007752 45007752 G C SNP B2M ENST00000544417 human ensembl 74_37 +1 known missense c.199 p.E67Q 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 tier1 - - 199 0 0.00 108 52 32.50 B2M 0 genome.wustl.edu 37 15 45007929 45007929 + RNA SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 45007929 45007929 G C SNP B2M ENST00000560556 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors B2M HGNC ENSG00000166710 tier1 - - 90 0 0.00 41 16 28.07 B3GALT5 0 genome.wustl.edu 37 21 41033308 41033308 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 21 41033308 41033308 C T SNP B3GALT5 ENST00000343118 human ensembl 74_37 +1 known silent c.822 p.S274 0.104 NULL pfam_Glyco_trans_31 - no_errors B3GALT5 HGNC ENSG00000183778 tier1 - - 183 0 0.00 85 47 35.61 BAGE2 0 genome.wustl.edu 37 21 11060198 11060198 + RNA SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 21 11060198 11060198 G A SNP BAGE2 ENST00000474011 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors BAGE2 HGNC ENSG00000187172 tier1 rs209031 - 9 0 0.00 15 6 28.57 BMPR1A 0 genome.wustl.edu 37 10 88681425 88681425 + Nonsense_Mutation SNP G G T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 10 88681425 88681425 G T SNP BMPR1A ENST00000372037 human ensembl 74_37 +1 known nonsense c.1315 p.E439* 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_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR1A HGNC ENSG00000107779 tier1 - - 194 0 0.00 18 187 91.22 BUD13 0 genome.wustl.edu 37 11 116643657 116643657 + Silent SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 116643657 116643657 G C SNP BUD13 ENST00000260210 human ensembl 74_37 -1 known silent c.24 p.S8 1.000 NULL pfam_Bud13 - no_errors BUD13 HGNC ENSG00000137656 tier1 - - 39 0 0.00 13 5 27.78 C12orf10 0 genome.wustl.edu 37 12 53699698 53699698 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 12 53699698 53699698 G C SNP C12orf10 ENST00000549488 human ensembl 74_37 +1 putative missense c.7 p.E3Q 1.000 pfam_Met-dep_prot_hydro pfam_Met-dep_prot_hydro - no_errors C12orf10 HGNC ENSG00000139637 tier1 - - 142 0 0.00 165 35 17.50 C12orf10 0 genome.wustl.edu 37 12 53699752 53699752 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 12 53699752 53699752 G A SNP C12orf10 ENST00000549488 human ensembl 74_37 +1 putative missense c.61 p.E21K 1.000 pfam_Met-dep_prot_hydro pfam_Met-dep_prot_hydro - no_errors C12orf10 HGNC ENSG00000139637 tier1 - - 152 0 0.00 211 28 11.62 CADM2 0 genome.wustl.edu 37 3 86114777 86114777 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 3 86114777 86114777 G A SNP CADM2 ENST00000405615 human ensembl 74_37 +1 known silent c.1092 p.Q364 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM2 HGNC ENSG00000175161 tier1 - - 82 0 0.00 74 29 28.16 CALCRL 0 genome.wustl.edu 37 2 188211047 188211047 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 188211047 188211047 C T SNP CALCRL ENST00000392370 human ensembl 74_37 -1 known missense c.1250 p.R417H 1.000 prints_GPCR_2_CGRP1_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_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCRL HGNC ENSG00000064989 tier1 - - 77 0 0.00 34 46 57.50 CARD11 0 genome.wustl.edu 37 7 2984021 2984021 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 2984021 2984021 C T SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.509 p.R170H 0.975 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 tier1 - - 195 0 0.00 140 60 29.85 CBLN1 0 genome.wustl.edu 37 16 49314965 49314965 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 16 49314965 49314965 C T SNP CBLN1 ENST00000564786 human ensembl 74_37 -1 known missense c.412 p.V138I 0.089 NULL NULL - no_errors CBLN1 HGNC ENSG00000102924 tier1 - - 94 0 0.00 82 27 24.77 CCDC110 0 genome.wustl.edu 37 4 186392204 186392204 + Splice_Site SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 4 186392204 186392204 C G SNP CCDC110 ENST00000307588 human ensembl 74_37 -1 known splice_site c.11-1 e2-1 0.945 - - - no_errors CCDC110 HGNC ENSG00000168491 tier1 - - 209 0 0.00 92 66 41.51 CCDC129 0 genome.wustl.edu 37 7 31690788 31690788 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 31690788 31690788 G A SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known silent c.2694 p.T898 0.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 tier1 - - 129 0 0.00 106 47 30.72 CCDC147 0 genome.wustl.edu 37 10 106152047 106152048 + Frame_Shift_Ins INS - - A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 10 106152047 106152048 - A INS CCDC147 ENST00000369704 human ensembl 74_37 +1 known frame_shift_ins c.1422_1423 p.I476fs 1.000:1.000 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 tier1 165 0 0.00 210 44 17.32 CCNC 0 genome.wustl.edu 37 6 99997433 99997433 + Frame_Shift_Del DEL G G - TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 6 99997433 99997433 G - DEL CCNC ENST00000520429 human ensembl 74_37 -1 known frame_shift_del c.549 p.Y184fs 1.000 superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC - no_errors CCNC HGNC ENSG00000112237 tier1 47 0 0.00 19 13 40.62 CCT2 0 genome.wustl.edu 37 12 69981976 69981976 + Missense_Mutation SNP T T C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 12 69981976 69981976 T C SNP CCT2 ENST00000299300 human ensembl 74_37 +1 known missense c.380 p.I127T 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_beta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta - no_errors CCT2 HGNC ENSG00000166226 tier1 - - 139 0 0.00 155 44 22.11 CCZ1 0 genome.wustl.edu 37 7 5944826 5944826 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 5944826 5944826 C T SNP CCZ1 ENST00000325974 human ensembl 74_37 +1 known silent c.624 p.S208 0.838 pfam_DUF1712_fun pfam_DUF1712_fun - no_errors CCZ1 HGNC ENSG00000122674 tier1 - - 53 0 0.00 43 16 27.12 CD3EAP 0 genome.wustl.edu 37 19 45911470 45911470 + Missense_Mutation SNP G G T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 19 45911470 45911470 G T SNP CD3EAP ENST00000589804 human ensembl 74_37 +1 known missense c.250 p.V84F 0.941 pfam_DNA-dir_RNA_pol1_su_RPA34 pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 tier1 - - 256 0 0.00 193 70 26.62 CD3EAP 0 genome.wustl.edu 37 19 45912148 45912148 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 19 45912148 45912148 G C SNP CD3EAP ENST00000589804 human ensembl 74_37 +1 known missense c.928 p.E310Q 0.017 NULL pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 tier1 - - 202 0 0.00 149 68 31.19 CDH26 0 genome.wustl.edu 37 20 58569352 58569352 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 20 58569352 58569352 G C SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known missense c.1474 p.D492H 0.111 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 tier1 - - 113 0 0.00 107 39 26.71 CES5A 0 genome.wustl.edu 37 16 55880292 55880292 + RNA SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 16 55880292 55880292 G A SNP CES5A ENST00000541580 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CES5A HGNC ENSG00000159398 tier1 - - 39 0 0.00 23 22 48.89 CLECL1 0 genome.wustl.edu 37 12 9875317 9875317 + Missense_Mutation SNP T T C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 12 9875317 9875317 T C SNP CLECL1 ENST00000327839 human ensembl 74_37 -1 known missense c.409 p.K137E 0.011 superfamily_C-type_lectin_fold superfamily_C-type_lectin_fold - no_errors CLECL1 HGNC ENSG00000184293 tier1 - - 120 0 0.00 190 37 16.30 CLK2 0 genome.wustl.edu 37 1 155238447 155238447 + RNA SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 155238447 155238447 G C SNP CLK2 ENST00000497188 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CLK2 HGNC ENSG00000176444 tier1 - - 131 0 0.00 138 71 33.97 CLUH 0 genome.wustl.edu 37 17 2601321 2601322 + Frame_Shift_Ins INS - - G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 17 2601321 2601322 - G INS CLUH ENST00000435359 human ensembl 74_37 -1 known frame_shift_ins c.1716_1715 p.D573fs 0.020:1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 tier1 23 0 0.00 22 2 8.33 COL11A1 0 genome.wustl.edu 37 1 103461579 103461579 + Missense_Mutation SNP C C A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 103461579 103461579 C A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.2297 p.G766V 1.000 pfam_Collagen 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 tier1 - - 107 0 0.00 92 38 29.23 COL12A1 0 genome.wustl.edu 37 6 75893724 75893724 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 6 75893724 75893724 G A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known silent c.1134 p.H378 0.513 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 tier1 - - 203 0 0.00 92 73 44.24 COL3A1 0 genome.wustl.edu 37 2 189864260 189864260 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 189864260 189864260 G C SNP COL3A1 ENST00000304636 human ensembl 74_37 +1 known missense c.2186 p.G729A 1.000 NULL 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 tier1 - - 140 0 0.00 127 39 23.49 CSMD3 0 genome.wustl.edu 37 8 113418894 113418896 + In_Frame_Del DEL TTC TTC - TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 8 113418894 113418896 TTC - DEL CSMD3 ENST00000297405 human ensembl 74_37 -1 known in_frame_del c.5668_5666 p.R1889in_frame_del 0.996:0.848:1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 131 0 0.00 188 32 14.55 CSRNP3 0 genome.wustl.edu 37 2 166532873 166532873 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 166532873 166532873 G C SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known missense c.460 p.D154H 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 tier1 - - 404 0 0.00 328 116 26.13 CYP20A1 0 genome.wustl.edu 37 2 204161591 204161591 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 204161591 204161591 C T SNP CYP20A1 ENST00000356079 human ensembl 74_37 +1 known missense c.1349 p.S450L 0.976 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV - no_errors CYP20A1 HGNC ENSG00000119004 tier1 - - 88 0 0.00 109 43 28.29 DIDO1 0 genome.wustl.edu 37 20 61526264 61526264 + Silent SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 20 61526264 61526264 C G SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known silent c.2334 p.V778 0.005 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 tier1 - - 205 0 0.00 222 61 21.55 E2F8 0 genome.wustl.edu 37 11 19258993 19258993 + Missense_Mutation SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 19258993 19258993 C G SNP E2F8 ENST00000250024 human ensembl 74_37 -1 known missense c.319 p.E107Q 1.000 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 tier1 - - 87 0 0.00 29 18 38.30 EFR3A 0 genome.wustl.edu 37 8 132988283 132988283 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 8 132988283 132988283 G A SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known missense c.1169 p.G390E 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 tier1 - - 21 0 0.00 21 7 25.00 EIF2AK3 0 genome.wustl.edu 37 2 88885457 88885457 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 88885457 88885457 G C SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known missense c.1552 p.L518V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 tier1 - - 169 0 0.00 75 58 43.61 EIF3E 0 genome.wustl.edu 37 8 109215229 109215229 + Nonsense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 8 109215229 109215229 G A SNP EIF3E ENST00000220849 human ensembl 74_37 -1 known nonsense c.1282 p.Q428* 1.000 pirsf_eIF3e pfam_eIF3e_N,pfam_PCI_dom,smart_PCI_dom,pirsf_eIF3e - no_errors EIF3E HGNC ENSG00000104408 tier1 - - 144 0 0.00 178 47 20.89 EN1 0 genome.wustl.edu 37 2 119600774 119600774 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 119600774 119600774 G A SNP EN1 ENST00000295206 human ensembl 74_37 -1 known missense c.919 p.R307W 0.975 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4 - no_errors EN1 HGNC ENSG00000163064 tier1 - - 16 0 0.00 10 13 56.52 ENSG00000243696 0 genome.wustl.edu 37 3 52867404 52867404 + Frame_Shift_Del DEL C C - TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 3 52867404 52867404 C - DEL ENSG00000243696 ENST00000468472 human ensembl 74_37 -1 known frame_shift_del c.185 p.R62fs 1.000 NULL NULL - no_errors RP5-966M1.6 Clone_based_vega_gene ENSG00000243696 tier1 77 0 0.00 36 2 5.26 EPO 0 genome.wustl.edu 37 7 100320428 100320428 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 100320428 100320428 C T SNP EPO ENST00000252723 human ensembl 74_37 +1 known missense c.388 p.R130C 0.962 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 tier1 - - 124 0 0.00 79 34 30.09 FAM161A 0 genome.wustl.edu 37 2 62066569 62066569 + Nonsense_Mutation SNP C C A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 62066569 62066569 C A SNP FAM161A ENST00000405894 human ensembl 74_37 -1 known nonsense c.1570 p.E524* 0.786 pfam_UPF0564 pfam_UPF0564 - no_errors FAM161A HGNC ENSG00000170264 tier1 - - 89 0 0.00 49 45 45.45 FAM222B 0 genome.wustl.edu 37 17 27085813 27085813 + Silent SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 17 27085813 27085813 C G SNP FAM222B ENST00000341217 human ensembl 74_37 -1 known silent c.1164 p.L388 1.000 NULL NULL - no_errors FAM222B HGNC ENSG00000173065 17 0 0.00 12 2 14.29 FAT4 0 genome.wustl.edu 37 4 126370464 126370464 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 4 126370464 126370464 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.8293 p.D2765N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 250 0 0.00 113 80 41.45 FBXL7 0 genome.wustl.edu 37 5 15936911 15936911 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 5 15936911 15936911 C T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known silent c.1092 p.T364 0.606 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 tier1 - - 48 0 0.00 59 12 16.90 FMNL1 0 genome.wustl.edu 37 17 43323028 43323028 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 17 43323028 43323028 C T SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known silent c.2922 p.F974 0.996 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 tier1 - - 188 0 0.00 160 57 26.27 FOLH1B 0 genome.wustl.edu 37 11 89421771 89421771 + RNA SNP G G T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 89421771 89421771 G T SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FOLH1B HGNC ENSG00000134612 tier1 - - 133 0 0.00 66 49 42.61 FREM1 0 genome.wustl.edu 37 9 14784491 14784491 + Missense_Mutation SNP C C A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 9 14784491 14784491 C A SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.4322 p.G1441V 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 tier1 - - 74 0 0.00 33 19 36.54 GAS5 0 genome.wustl.edu 37 1 173833340 173833340 + RNA SNP T T C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 173833340 173833340 T C SNP GAS5 ENST00000363840 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GAS5 HGNC ENSG00000234741 tier1 - - 67 0 0.00 50 25 33.33 GOLGA4 0 genome.wustl.edu 37 3 37367630 37367630 + Missense_Mutation SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 3 37367630 37367630 C G SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known missense c.4253 p.S1418C 0.137 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 tier1 - - 127 0 0.00 107 40 27.03 GPC6 0 genome.wustl.edu 37 13 94482694 94482694 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 13 94482694 94482694 G A SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.607 p.V203M 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 tier1 - - 96 0 0.00 50 26 34.21 GSDMC 0 genome.wustl.edu 37 8 130789618 130789618 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 8 130789618 130789618 G A SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known silent c.216 p.V72 0.998 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 tier1 - - 51 0 0.00 58 51 46.79 HDLBP 0 genome.wustl.edu 37 2 242170209 242170209 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 242170209 242170209 C T SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.3439 p.G1147S 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 tier1 - - 64 0 0.00 60 24 28.57 HNRNPF 0 genome.wustl.edu 37 10 43882562 43882562 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 10 43882562 43882562 G A SNP HNRNPF ENST00000337970 human ensembl 74_37 -1 known silent c.771 p.T257 0.832 pfam_Znf_CHHC pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPF HGNC ENSG00000169813 tier1 - - 99 0 0.00 36 110 75.34 HTR6 0 genome.wustl.edu 37 1 20005855 20005855 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 20005855 20005855 G A SNP HTR6 ENST00000289753 human ensembl 74_37 +1 known silent c.1317 p.T439 0.994 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn - no_errors HTR6 HGNC ENSG00000158748 tier1 rs202108589 - 40 0 0.00 15 11 42.31 IDE 0 genome.wustl.edu 37 10 94223573 94223573 + Silent SNP A A G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 10 94223573 94223573 A G SNP IDE ENST00000265986 human ensembl 74_37 -1 known silent c.2676 p.R892 1.000 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 tier1 - - 261 0 0.00 260 86 24.86 IGDCC3 0 genome.wustl.edu 37 15 65623494 65623494 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 65623494 65623494 G A SNP IGDCC3 ENST00000327987 human ensembl 74_37 -1 known silent c.1455 p.V485 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 IGDCC3 HGNC ENSG00000174498 tier1 - - 453 0 0.00 196 114 36.77 IL1RAPL1 0 genome.wustl.edu 37 X 29301098 29301098 + Missense_Mutation SNP A A C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 X 29301098 29301098 A C SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known missense c.126 p.Q42H 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 tier1 - - 102 0 0.00 12 34 73.91 IMPDH1 0 genome.wustl.edu 37 7 128040903 128040903 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 128040903 128040903 C T SNP IMPDH1 ENST00000338791 human ensembl 74_37 -1 known missense c.547 p.E183K 1.000 pfam_IMP_DH_GMPRt,tigrfam_IMP_DH pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_CBS_dom,tigrfam_IMP_DH - no_errors IMPDH1 HGNC ENSG00000106348 tier1 - - 173 0 0.00 154 56 26.67 IPO4 0 genome.wustl.edu 37 14 24654109 24654109 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 14 24654109 24654109 C T SNP IPO4 ENST00000354464 human ensembl 74_37 -1 known missense c.1486 p.A496T 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC ENSG00000196497 tier1 - - 65 0 0.00 42 17 28.81 JARID2 0 genome.wustl.edu 37 6 15501390 15501390 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 6 15501390 15501390 G A SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.2198 p.R733H 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 tier1 - - 274 0 0.00 214 86 28.67 KAL1 0 genome.wustl.edu 37 X 8538713 8538713 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 X 8538713 8538713 G A SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known missense c.889 p.R297W 0.069 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 tier1 - - 60 0 0.00 12 12 50.00 KANK4 0 genome.wustl.edu 37 1 62704051 62704051 + Silent SNP A A C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 62704051 62704051 A C SNP KANK4 ENST00000371153 human ensembl 74_37 -1 known silent c.2886 p.A962 0.980 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom 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 tier1 - - 99 0 0.00 34 35 50.72 KCNA1 0 genome.wustl.edu 37 12 5021955 5021955 + Missense_Mutation SNP G G T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 12 5021955 5021955 G T SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known missense c.1411 p.V471F 1.000 prints_K_chnl_volt-dep_Kv1.1 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,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 tier1 - - 251 0 0.00 132 272 67.33 KCNJ16 0 genome.wustl.edu 37 17 68128377 68128377 + Frame_Shift_Del DEL T T - TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 17 68128377 68128377 T - DEL KCNJ16 ENST00000283936 human ensembl 74_37 +1 known frame_shift_del c.149 p.F51fs 0.773 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir - no_errors KCNJ16 HGNC ENSG00000153822 tier1 183 0 0.00 102 69 40.35 KIAA1244 0 genome.wustl.edu 37 6 138618056 138618056 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 6 138618056 138618056 G A SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.3612 p.M1204I 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 tier1 - - 144 0 0.00 67 57 45.97 KIR3DL1 0 genome.wustl.edu 37 19 55341629 55341629 + Missense_Mutation SNP A A T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 19 55341629 55341629 A T SNP KIR3DL1 ENST00000391728 human ensembl 74_37 +1 known missense c.1234 p.T412S 0.005 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 tier1 - - 512 0 0.00 437 161 26.83 KRAS 0 genome.wustl.edu 37 12 25378562 25378562 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 12 25378562 25378562 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.436 p.A146T 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,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_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 KRAS HGNC ENSG00000133703 tier1 rs121913527 - 161 0 0.00 73 146 66.67 KRT13 0 genome.wustl.edu 37 17 39659672 39659672 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 17 39659672 39659672 C T SNP KRT13 ENST00000246635 human ensembl 74_37 -1 known missense c.602 p.R201H 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT13 HGNC ENSG00000171401 tier1 - - 141 0 0.00 107 27 20.15 LANCL2 0 genome.wustl.edu 37 7 55496107 55496107 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 55496107 55496107 C T SNP LANCL2 ENST00000254770 human ensembl 74_37 +1 known missense c.1225 p.R409C 1.000 pfam_LANC-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL2 HGNC ENSG00000132434 tier1 - - 89 0 0.00 73 28 27.72 LIPI 0 genome.wustl.edu 37 21 15517046 15517046 + Nonsense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 21 15517046 15517046 G C SNP LIPI ENST00000344577 human ensembl 74_37 -1 known nonsense c.1256 p.S419* 1.000 pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPI HGNC ENSG00000188992 tier1 - - 106 0 0.00 92 22 19.30 LPP 0 genome.wustl.edu 37 3 188327526 188327526 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 3 188327526 188327526 G C SNP LPP ENST00000312675 human ensembl 74_37 +1 known missense c.1007 p.G336A 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC ENSG00000145012 tier1 - - 117 0 0.00 65 28 30.11 LRRC4 0 genome.wustl.edu 37 7 127670418 127670418 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 127670418 127670418 G A SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known silent c.276 p.A92 0.817 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,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,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 tier1 - - 167 0 0.00 105 52 33.12 MARK3 0 genome.wustl.edu 37 14 103925081 103925081 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 14 103925081 103925081 G A SNP MARK3 ENST00000416682 human ensembl 74_37 +1 known silent c.501 p.Q167 0.000 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_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK3 HGNC ENSG00000075413 tier1 - - 19 0 0.00 1 8 88.89 MECR 0 genome.wustl.edu 37 1 29520433 29520433 + RNA SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 29520433 29520433 G C SNP MECR ENST00000473030 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MECR HGNC ENSG00000116353 tier1 - - 29 0 0.00 15 10 40.00 MGAT5B 0 genome.wustl.edu 37 17 74922697 74922697 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 17 74922697 74922697 C T SNP MGAT5B ENST00000428789 human ensembl 74_37 +1 known silent c.1209 p.I403 0.659 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 tier1 - - 77 0 0.00 21 31 59.62 MIA3 0 genome.wustl.edu 37 1 222801443 222801443 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 222801443 222801443 G A SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known missense c.881 p.R294K 0.313 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 tier1 - - 122 0 0.00 96 36 27.27 MICAL3 0 genome.wustl.edu 37 22 18364012 18364012 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 22 18364012 18364012 G A SNP MICAL3 ENST00000429452 human ensembl 74_37 -1 known missense c.2299 p.P767S 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 tier1 - - 132 0 0.00 57 45 44.12 MPI 0 genome.wustl.edu 37 15 75185569 75185569 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 75185569 75185569 C T SNP MPI ENST00000352410 human ensembl 74_37 +1 known missense c.578 p.S193F 1.000 pfam_Man6P_Isoase-1,superfamily_RmlC_Cupin,pirsf_Mannose-6-P_Isomerase,tigrfam_Man6P_Isoase-1 pfam_Man6P_Isoase-1,superfamily_RmlC_Cupin,pirsf_Mannose-6-P_Isomerase,prints_Mannose-6-P_Isomerase,tigrfam_Man6P_Isoase-1 - no_errors MPI HGNC ENSG00000178802 tier1 - - 103 0 0.00 53 32 37.65 MPP4 0 genome.wustl.edu 37 2 202545621 202545621 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 202545621 202545621 C T SNP MPP4 ENST00000359962 human ensembl 74_37 -1 known missense c.869 p.R290Q 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,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 MPP4 HGNC ENSG00000082126 tier1 - - 56 0 0.00 67 16 19.28 MT-ND5 0 genome.wustl.edu 37 MT 12889 12889 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 MT 12889 12889 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.553 p.A185T 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 tier1 - - 344 0 0.00 13 140 90.32 MT-RNR2 0 genome.wustl.edu 37 MT 2573 2573 + RNA SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 MT 2573 2573 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 345 0 0.00 108 36 25.00 MT-RNR2 0 genome.wustl.edu 37 MT 2780 2780 + RNA SNP C C A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 MT 2780 2780 C A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 302 0 0.00 27 91 75.83 MTBP 0 genome.wustl.edu 37 8 121500557 121500557 + Nonsense_Mutation SNP G G T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 8 121500557 121500557 G T SNP MTBP ENST00000305949 human ensembl 74_37 +1 known nonsense c.1324 p.E442* 0.900 NULL NULL - no_errors MTBP HGNC ENSG00000172167 tier1 - - 50 0 0.00 49 15 23.44 MYBL2 0 genome.wustl.edu 37 20 42331390 42331390 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 20 42331390 42331390 C T SNP MYBL2 ENST00000217026 human ensembl 74_37 +1 known silent c.1212 p.G404 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 tier1 - - 109 0 0.00 104 70 40.00 MYO3B 0 genome.wustl.edu 37 2 171375991 171375991 + Missense_Mutation SNP A A T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 171375991 171375991 A T SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known missense c.3543 p.E1181D 0.005 NULL pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 tier1 - - 74 0 0.00 49 30 37.97 MYO7A 0 genome.wustl.edu 37 11 76895772 76895772 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 76895772 76895772 G A SNP MYO7A ENST00000409893 human ensembl 74_37 +1 putative missense c.3515 p.G1172E 0.000 smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom - no_errors MYO7A HGNC ENSG00000137474 tier1 rs78509218 - 17 0 0.00 2 4 66.67 MYOM1 0 genome.wustl.edu 37 18 3126753 3126753 + Silent SNP T T C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 18 3126753 3126753 T C SNP MYOM1 ENST00000356443 human ensembl 74_37 -1 known silent c.2937 p.V979 0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 tier1 - - 52 0 0.00 56 21 27.27 MYRF 0 genome.wustl.edu 37 11 61544890 61544890 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 61544890 61544890 C T SNP MYRF ENST00000278836 human ensembl 74_37 +1 known missense c.1745 p.S582L 0.999 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 tier1 - - 58 0 0.00 6 45 88.24 NAALADL1 0 genome.wustl.edu 37 11 64815685 64815687 + In_Frame_Del DEL CTC CTC - TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 64815685 64815687 CTC - DEL NAALADL1 ENST00000358658 human ensembl 74_37 -1 known in_frame_del c.1287_1285 p.E429in_frame_del 0.996:1.000:1.000 pfam_Peptidase_M28 pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALADL1 HGNC ENSG00000168060 tier1 249 0 0.00 118 59 33.33 NCDN 0 genome.wustl.edu 37 1 36026175 36026175 + Silent SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 36026175 36026175 G C SNP NCDN ENST00000356090 human ensembl 74_37 +1 known silent c.423 p.G141 0.518 NULL NULL - no_errors NCDN HGNC ENSG00000020129 tier1 - - 312 0 0.00 121 59 32.78 NCF4 0 genome.wustl.edu 37 22 37273825 37273825 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 22 37273825 37273825 C T SNP NCF4 ENST00000248899 human ensembl 74_37 +1 known missense c.980 p.T327M 1.000 pfam_OPR_PB1,smart_OPR_PB1 pfam_Phox,pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,smart_OPR_PB1,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox - no_errors NCF4 HGNC ENSG00000100365 tier1 - - 55 0 0.00 26 16 38.10 NCOA3 0 genome.wustl.edu 37 20 46279860 46279860 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 20 46279860 46279860 G A SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known silent c.3786 p.Q1262 0.996 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 tier1 rs151060280 - 83 0 0.00 141 8 5.30 NEB 0 genome.wustl.edu 37 2 152484297 152484297 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 152484297 152484297 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.9883 p.R3295W 0.997 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 391 0 0.00 341 139 28.96 NEDD9 0 genome.wustl.edu 37 6 11185831 11185831 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 6 11185831 11185831 G C SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known missense c.2069 p.S690C 0.999 pfam_CAS_DUF3513 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 tier1 - - 90 0 0.00 71 33 31.73 NIN 0 genome.wustl.edu 37 14 51226636 51226636 + Missense_Mutation SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 14 51226636 51226636 C G SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.2338 p.E780Q 0.994 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 tier1 - - 293 0 0.00 215 111 34.05 NOTCH4 0 genome.wustl.edu 37 6 32163612 32163612 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 6 32163612 32163612 C T SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.5614 p.G1872R 0.003 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,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,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 tier1 rs8192582 - 35 0 0.00 24 6 20.00 NPTX2 0 genome.wustl.edu 37 7 98257885 98257885 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 98257885 98257885 G A SNP NPTX2 ENST00000265634 human ensembl 74_37 +1 known missense c.1240 p.G414R 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX2 HGNC ENSG00000106236 tier1 - - 34 0 0.00 22 11 33.33 NUCB1 0 genome.wustl.edu 37 19 49416330 49416330 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 19 49416330 49416330 G A SNP NUCB1 ENST00000263273 human ensembl 74_37 +1 known missense c.543 p.M181I 1.000 NULL pfscan_EF_hand_dom - no_errors NUCB1 HGNC ENSG00000104805 tier1 - - 215 0 0.00 207 23 10.00 NUTM2B 0 genome.wustl.edu 37 10 81465826 81465826 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 10 81465826 81465826 C T SNP NUTM2B ENST00000429828 human ensembl 74_37 +1 known silent c.411 p.T137 0.000 NULL NULL - no_errors NUTM2B HGNC ENSG00000188199 tier1 - - 8 0 0.00 10 12 54.55 NXPH1 0 genome.wustl.edu 37 7 8791071 8791071 + Missense_Mutation SNP T T C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 8791071 8791071 T C SNP NXPH1 ENST00000405863 human ensembl 74_37 +1 known missense c.488 p.V163A 1.000 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH1 HGNC ENSG00000122584 tier1 - - 82 0 0.00 68 11 13.92 OR5H14 0 genome.wustl.edu 37 3 97868758 97868758 + Missense_Mutation SNP T T G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 3 97868758 97868758 T G SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known missense c.529 p.F177V 0.528 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 OR5H14 HGNC ENSG00000236032 tier1 - - 178 0 0.00 116 66 36.07 PARD3 0 genome.wustl.edu 37 10 34630665 34630665 + Silent SNP A A G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 10 34630665 34630665 A G SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known silent c.2307 p.L769 0.876 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 tier1 - - 144 0 0.00 153 37 19.47 PHF20 0 genome.wustl.edu 37 20 34526798 34526798 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 20 34526798 34526798 C T SNP PHF20 ENST00000374012 human ensembl 74_37 +1 known missense c.2480 p.P827L 0.773 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC ENSG00000025293 tier1 - - 105 0 0.00 112 32 22.22 PKD1L1 0 genome.wustl.edu 37 7 47897384 47897384 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 47897384 47897384 C T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.4409 p.R1470Q 0.000 pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 tier1 - - 67 0 0.00 91 7 7.14 PKDREJ 0 genome.wustl.edu 37 22 46657257 46657257 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 22 46657257 46657257 G C SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.1963 p.L655V 0.178 pfam_PKD/REJ-like,pfscan_REJ-like 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 tier1 - - 169 0 0.00 83 66 44.00 PMS1 0 genome.wustl.edu 37 2 190738367 190738367 + Silent SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 190738367 190738367 G C SNP PMS1 ENST00000441310 human ensembl 74_37 +1 known silent c.2619 p.V873 0.777 NULL pfam_DNA_mismatch_repair_C,pfam_HMG_box_dom,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 tier1 - - 81 0 0.00 72 23 24.21 PNLIP 0 genome.wustl.edu 37 10 118315528 118315528 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 10 118315528 118315528 G A SNP PNLIP ENST00000369221 human ensembl 74_37 +1 known silent c.828 p.A276 0.060 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase,prints_Lipase_panc - no_errors PNLIP HGNC ENSG00000175535 tier1 - - 227 0 0.00 244 80 24.69 POLR1C 0 genome.wustl.edu 37 6 43488069 43488069 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 6 43488069 43488069 G C SNP POLR1C ENST00000372389 human ensembl 74_37 +1 known missense c.559 p.E187Q 0.995 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR1C HGNC ENSG00000171453 tier1 - - 178 0 0.00 178 61 25.52 POTEI 0 genome.wustl.edu 37 2 131220767 131220767 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 131220767 131220767 G A SNP POTEI ENST00000451531 human ensembl 74_37 -1 novel silent c.2850 p.I950 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEI HGNC ENSG00000196834 tier1 - - 122 0 0.00 95 43 31.16 PPAT 0 genome.wustl.edu 37 4 57272837 57272837 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 4 57272837 57272837 C T SNP PPAT ENST00000264220 human ensembl 74_37 -1 known missense c.226 p.E76K 1.000 pfam_GATase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans pfam_GATase_dom,pfam_PRibTrfase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans - no_errors PPAT HGNC ENSG00000128059 tier1 - - 52 0 0.00 33 14 29.79 PPP1R13B 0 genome.wustl.edu 37 14 104206598 104206598 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 14 104206598 104206598 C T SNP PPP1R13B ENST00000202556 human ensembl 74_37 -1 known missense c.2155 p.G719R 1.000 NULL 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_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 tier1 - - 165 0 0.00 128 16 10.88 PRKCE 0 genome.wustl.edu 37 2 46386987 46386987 + RNA SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 46386987 46386987 C T SNP PRKCE ENST00000494472 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors PRKCE HGNC ENSG00000171132 tier1 - - 38 0 0.00 16 15 48.39 PYCR2 0 genome.wustl.edu 37 1 226109907 226109907 + Missense_Mutation SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 226109907 226109907 C G SNP PYCR2 ENST00000343818 human ensembl 74_37 -1 known missense c.315 p.E105D 1.000 pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCR2 HGNC ENSG00000143811 tier1 - - 60 0 0.00 49 21 30.00 PYROXD2 0 genome.wustl.edu 37 10 100159985 100159985 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 10 100159985 100159985 G C SNP PYROXD2 ENST00000370575 human ensembl 74_37 -1 known missense c.345 p.N115K 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase - no_errors PYROXD2 HGNC ENSG00000119943 tier1 - - 94 0 0.00 94 31 24.60 RAB5A 0 genome.wustl.edu 37 3 20017591 20017591 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 3 20017591 20017591 G A SNP RAB5A ENST00000273047 human ensembl 74_37 +1 known missense c.368 p.S123N 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,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 RAB5A HGNC ENSG00000144566 tier1 - - 92 0 0.00 85 47 35.61 REV3L 0 genome.wustl.edu 37 6 111628643 111628643 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 6 111628643 111628643 C T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.9173 p.R3058Q 1.000 NULL pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 tier1 - - 181 0 0.00 75 41 35.34 REV3L 0 genome.wustl.edu 37 6 111689032 111689032 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 6 111689032 111689032 C T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.5959 p.V1987I 0.996 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 tier1 - - 142 0 0.00 87 53 37.86 RGPD4 0 genome.wustl.edu 37 2 108496559 108496559 + Missense_Mutation SNP T T A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 108496559 108496559 T A SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.5060 p.I1687N 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 tier1 - - 333 0 0.00 238 125 34.34 RHOB 0 genome.wustl.edu 37 2 20647766 20647766 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 20647766 20647766 G A SNP RHOB ENST00000272233 human ensembl 74_37 +1 known silent c.540 p.Q180 1.000 superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOB HGNC ENSG00000143878 tier1 - - 178 0 0.00 68 58 46.03 RIMS1 0 genome.wustl.edu 37 6 73043512 73043512 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 6 73043512 73043512 G A SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.4340 p.R1447K 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 17 0 0.00 6 9 56.25 RIN2 0 genome.wustl.edu 37 20 19981541 19981541 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 20 19981541 19981541 C T SNP RIN2 ENST00000255006 human ensembl 74_37 +1 known silent c.2796 p.I932 0.857 NULL pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 tier1 - - 91 0 0.00 95 36 27.48 RPGR 0 genome.wustl.edu 37 X 38145180 38145180 + Missense_Mutation SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 X 38145180 38145180 C G SNP RPGR ENST00000378505 human ensembl 74_37 -1 known missense c.3072 p.E1024D 0.000 NULL pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 tier1 - - 22 0 0.00 1 8 88.89 RUSC1 0 genome.wustl.edu 37 1 155296538 155296538 + Nonsense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 155296538 155296538 C T SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known nonsense c.2029 p.Q677* 0.003 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 tier1 - - 163 0 0.00 133 67 33.50 RYR1 0 genome.wustl.edu 37 19 38966036 38966036 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 19 38966036 38966036 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.4239 p.D1413 0.264 pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 56 0 0.00 58 14 19.44 SERINC4 0 genome.wustl.edu 37 15 44087253 44087253 + Missense_Mutation SNP A A C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 44087253 44087253 A C SNP SERINC4 ENST00000249714 human ensembl 74_37 -1 known missense c.770 p.L257W 0.042 NULL pfam_TMS_TDE - no_errors SERINC4 HGNC ENSG00000184716 tier1 - - 167 0 0.00 78 45 36.59 SET 0 genome.wustl.edu 37 9 131455255 131455255 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 9 131455255 131455255 G A SNP SET ENST00000372692 human ensembl 74_37 +1 known missense c.526 p.G176R 1.000 pfam_NAP_family pfam_NAP_family - no_errors SET HGNC ENSG00000119335 tier1 - - 67 0 0.00 68 22 24.44 SFMBT2 0 genome.wustl.edu 37 10 7242396 7242396 + Missense_Mutation SNP A A T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 10 7242396 7242396 A T SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.1538 p.F513Y 0.102 NULL 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 tier1 - - 120 0 0.00 51 112 68.29 SIGLEC7 0 genome.wustl.edu 37 19 51645627 51645628 + In_Frame_Ins INS - - TGC TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 19 51645627 51645628 - TGC INS SIGLEC7 ENST00000317643 human ensembl 74_37 +1 known in_frame_ins c.1_2 p.5in_frame_insL 0.506:0.564 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC7 HGNC ENSG00000168995 tier1 56 0 0.00 62 12 16.22 SIPA1 0 genome.wustl.edu 37 11 65417081 65417081 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 65417081 65417081 C T SNP SIPA1 ENST00000394224 human ensembl 74_37 +1 known missense c.2575 p.L859F 1.000 NULL pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1 HGNC ENSG00000213445 tier1 - - 244 0 0.00 111 38 25.50 SLC12A5 0 genome.wustl.edu 37 20 44682238 44682238 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 20 44682238 44682238 C T SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.2638 p.R880C 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 tier1 - - 151 0 0.00 206 60 22.56 SLC16A2 0 genome.wustl.edu 37 X 73641900 73641900 + Frame_Shift_Del DEL C C - TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 X 73641900 73641900 C - DEL SLC16A2 ENST00000276033 human ensembl 74_37 +1 known frame_shift_del c.650 p.A217fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A2 HGNC ENSG00000147100 tier1 44 0 0.00 12 2 14.29 SLC28A1 0 genome.wustl.edu 37 15 85488357 85488357 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 85488357 85488357 G A SNP SLC28A1 ENST00000286749 human ensembl 74_37 +1 known missense c.1876 p.V626I 0.004 NULL pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A1 HGNC ENSG00000156222 tier1 - - 100 0 0.00 47 32 40.51 SLC35C2 0 genome.wustl.edu 37 20 44980832 44980832 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 20 44980832 44980832 C T SNP SLC35C2 ENST00000543605 human ensembl 74_37 -1 known missense c.782 p.R261H 1.000 pfam_Tpt_PEP_trans_dom,pfam_UAA pfam_Tpt_PEP_trans_dom,pfam_UAA - no_errors SLC35C2 HGNC ENSG00000080189 tier1 rs150435117 - 203 0 0.00 246 45 15.46 SLC38A10 0 genome.wustl.edu 37 17 79225040 79225040 + Missense_Mutation SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 17 79225040 79225040 C G SNP SLC38A10 ENST00000288439 human ensembl 74_37 -1 known missense c.2318 p.R773P 0.004 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 tier1 - - 58 0 0.00 6 4 33.33 SLITRK2 0 genome.wustl.edu 37 X 144905375 144905375 + Missense_Mutation SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 X 144905375 144905375 C G SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known missense c.1432 p.L478V 1.000 smart_Leu-rich_rpt_typical-subtyp 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 tier1 - - 440 0 0.00 323 151 31.79 SLITRK5 0 genome.wustl.edu 37 13 88329699 88329699 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 13 88329699 88329699 G C SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.2056 p.V686L 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 tier1 - - 119 0 0.00 78 28 26.42 SMAD3 0 genome.wustl.edu 37 15 67473643 67473643 + Missense_Mutation SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 67473643 67473643 C G SNP SMAD3 ENST00000327367 human ensembl 74_37 +1 known missense c.723 p.N241K 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD3 HGNC ENSG00000166949 tier1 - - 65 0 0.00 40 22 35.48 SORCS1 0 genome.wustl.edu 37 10 108924012 108924012 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 10 108924012 108924012 C T SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known silent c.273 p.R91 0.421 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 39 0 0.00 42 10 19.23 SPATA20 0 genome.wustl.edu 37 17 48631744 48631744 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 17 48631744 48631744 G A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known missense c.2090 p.R697H 0.861 NULL pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 tier1 - - 245 0 0.00 162 76 31.93 SSPN 0 genome.wustl.edu 37 12 26383695 26383695 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 12 26383695 26383695 G A SNP SSPN ENST00000242729 human ensembl 74_37 +1 known missense c.418 p.V140M 0.958 pfam_CD20-like pfam_CD20-like - no_errors SSPN HGNC ENSG00000123096 tier1 rs201200828 - 117 0 0.00 136 33 19.53 STAT5A 0 genome.wustl.edu 37 17 40453395 40453395 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 17 40453395 40453395 G C SNP STAT5A ENST00000345506 human ensembl 74_37 +1 known missense c.1092 p.M364I 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 tier1 - - 167 0 0.00 108 65 37.57 SYN2 0 genome.wustl.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 3 12046124 12046126 AGC - DEL SYN2 ENST00000426379 human ensembl 74_37 +1 known rna NULL NULL 0.710:0.518:0.471 - - - no_errors SYN2 HGNC ENSG00000157152 tier1 10 0 0.00 6 3 33.33 SYT14L 0 genome.wustl.edu 37 4 68928981 68928981 + RNA SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 4 68928981 68928981 C T SNP SYT14L ENST00000600441 human ensembl 74_37 -1 known rna NULL NULL 0.438 - - - no_errors RP11-35D5.1 Clone_based_vega_gene ENSG00000215127 tier1 - - 97 0 0.00 43 40 48.19 TBC1D16 0 genome.wustl.edu 37 17 77987280 77987280 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 17 77987280 77987280 C T SNP TBC1D16 ENST00000310924 human ensembl 74_37 -1 known missense c.67 p.G23S 0.005 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D16 HGNC ENSG00000167291 tier1 - - 17 0 0.00 0 11 100.00 TCF4 0 genome.wustl.edu 37 18 52921845 52921845 + Missense_Mutation SNP C C A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 18 52921845 52921845 C A SNP TCF4 ENST00000398339 human ensembl 74_37 -1 known missense c.1539 p.M513I 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF4 HGNC ENSG00000196628 tier1 - - 53 0 0.00 14 17 54.84 TCTN2 0 genome.wustl.edu 37 12 124179826 124179826 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 12 124179826 124179826 G C SNP TCTN2 ENST00000303372 human ensembl 74_37 +1 known missense c.1294 p.E432Q 0.089 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN2 HGNC ENSG00000168778 tier1 - - 167 0 0.00 277 57 17.07 TENM4 0 genome.wustl.edu 37 11 78387370 78387370 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 78387370 78387370 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.5323 p.G1775S 1.000 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 tier1 - - 63 0 0.00 31 20 39.22 TGM7 0 genome.wustl.edu 37 15 43569080 43569080 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 43569080 43569080 G A SNP TGM7 ENST00000452443 human ensembl 74_37 -1 known silent c.1953 p.I651 0.008 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 tier1 - - 83 0 0.00 41 37 47.44 TGM7 0 genome.wustl.edu 37 15 43569089 43569089 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 43569089 43569089 G A SNP TGM7 ENST00000452443 human ensembl 74_37 -1 known silent c.1944 p.S648 0.988 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 tier1 rs143823016 - 89 0 0.00 45 37 45.12 THEMIS2 0 genome.wustl.edu 37 1 28209140 28209140 + Missense_Mutation SNP T T A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 28209140 28209140 T A SNP THEMIS2 ENST00000373921 human ensembl 74_37 +1 known missense c.1305 p.S435R 0.000 NULL NULL - no_errors THEMIS2 HGNC ENSG00000130775 tier1 - - 113 0 0.00 50 29 36.71 TPM2 0 genome.wustl.edu 37 9 35684736 35684736 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 9 35684736 35684736 G A SNP TPM2 ENST00000360958 human ensembl 74_37 -1 known missense c.632 p.A211V 1.000 pfam_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM2 HGNC ENSG00000198467 tier1 - - 130 0 0.00 14 79 84.95 TRAF3IP3 0 genome.wustl.edu 37 1 209951479 209951479 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 209951479 209951479 G C SNP TRAF3IP3 ENST00000367024 human ensembl 74_37 +1 known missense c.1213 p.E405Q 0.996 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 tier1 - - 62 0 0.00 54 18 25.00 TRAPPC3 0 genome.wustl.edu 37 1 36615055 36615055 + RNA SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 36615055 36615055 G A SNP TRAPPC3 ENST00000469757 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TRAPPC3 HGNC ENSG00000054116 tier1 - - 28 0 0.00 11 10 47.62 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5624747 5624747 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 5624747 5624747 C T SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 +1 known missense c.289 p.R97W 0.747 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,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 tier1 - - 102 0 0.00 32 35 52.24 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5664681 5664681 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 5664681 5664681 G C SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 +1 known missense c.2271 p.Q757H 0.084 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,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_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 tier1 - - 187 0 0.00 88 46 34.33 TRIM74 0 genome.wustl.edu 37 7 72430695 72430695 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 72430695 72430695 C T SNP TRIM74 ENST00000285805 human ensembl 74_37 -1 known missense c.583 p.E195K 0.990 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM74 HGNC ENSG00000155428 tier1 - - 51 0 0.00 28 12 30.00 TROAP 0 genome.wustl.edu 37 12 49719629 49719629 + Nonsense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 12 49719629 49719629 C T SNP TROAP ENST00000257909 human ensembl 74_37 +1 known nonsense c.595 p.R199* 0.203 NULL NULL - no_errors TROAP HGNC ENSG00000135451 tier1 - - 89 0 0.00 34 94 73.44 TRPC3 0 genome.wustl.edu 37 4 122831496 122831496 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 4 122831496 122831496 C T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known silent c.1605 p.R535 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 tier1 - - 138 0 0.00 76 47 38.21 TRPC7 0 genome.wustl.edu 37 5 135692643 135692643 + Nonsense_Mutation SNP C C A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 5 135692643 135692643 C A SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known nonsense c.433 p.E145* 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 tier1 - - 156 0 0.00 93 39 29.55 TRRAP 0 genome.wustl.edu 37 7 98547370 98547370 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 98547370 98547370 G C SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.5020 p.E1674Q 1.000 superfamily_ARM-type_fold 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 tier1 - - 128 0 0.00 94 38 28.79 TSPAN31 0 genome.wustl.edu 37 12 58140371 58140371 + Splice_Site SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 12 58140371 58140371 G C SNP TSPAN31 ENST00000257910 human ensembl 74_37 +1 known splice_site c.313-1 e4-1 1.000 - - - no_errors TSPAN31 HGNC ENSG00000135452 tier1 - - 82 0 0.00 164 28 14.58 TTC4 0 genome.wustl.edu 37 1 55188388 55188388 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 55188388 55188388 C T SNP TTC4 ENST00000371281 human ensembl 74_37 +1 known silent c.510 p.A170 0.085 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC4 HGNC ENSG00000243725 tier1 - - 239 0 0.00 123 80 39.41 UBR4 0 genome.wustl.edu 37 1 19441940 19441940 + Missense_Mutation SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 19441940 19441940 C G SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.11015 p.G3672A 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 138 0 0.00 56 38 40.43 USP21 0 genome.wustl.edu 37 1 161134896 161134896 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 161134896 161134896 C T SNP USP21 ENST00000289865 human ensembl 74_37 +1 known missense c.1570 p.R524W 0.977 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP21 HGNC ENSG00000143258 tier1 - - 143 0 0.00 99 38 27.74 USP35 0 genome.wustl.edu 37 11 77921619 77921619 + Silent SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 77921619 77921619 C G SNP USP35 ENST00000529308 human ensembl 74_37 +1 known silent c.2718 p.V906 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 tier1 - - 224 0 0.00 110 56 33.73 VSIG2 0 genome.wustl.edu 37 11 124621977 124621977 + Silent SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 124621977 124621977 C G SNP VSIG2 ENST00000326621 human ensembl 74_37 -1 known silent c.57 p.L19 0.043 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG2 HGNC ENSG00000019102 tier1 - - 46 0 0.00 17 10 37.04 XIRP1 0 genome.wustl.edu 37 3 39226540 39226540 + Missense_Mutation SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 3 39226540 39226540 C G SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.4397 p.R1466T 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 tier1 - - 213 0 0.00 124 50 28.74 ZNF551 0 genome.wustl.edu 37 19 58198625 58198625 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 19 58198625 58198625 C T SNP ZNF551 ENST00000282296 human ensembl 74_37 +1 known missense c.982 p.R328C 0.000 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 ZNF551 HGNC ENSG00000204519 tier1 - - 142 0 0.00 159 12 7.02 ZNF804A 0 genome.wustl.edu 37 2 185801428 185801428 + Silent SNP A A C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 185801428 185801428 A C SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known silent c.1305 p.T435 0.858 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 212 0 0.00 180 62 25.51 ZSWIM8 0 genome.wustl.edu 37 10 75560546 75560546 + RNA DEL C C - TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 10 75560546 75560546 C - DEL ZSWIM8 ENST00000603195 human ensembl 74_37 +1 known rna NULL NULL 0.749 - - - no_errors ZSWIM8 HGNC ENSG00000214655 tier1 26 0 0.00 18 4 18.18 COL11A1 0 genome.wustl.edu 37 1 103461579 103461579 + Missense_Mutation SNP C C A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 103461579 103461579 C A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.2297 p.G766V 1.000 pfam_Collagen 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 93 0 0 87 33 27.5 SYT6 0 genome.wustl.edu 37 1 114640404 114640404 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 114640404 114640404 C T SNP SYT6 ENST00000393296 human ensembl 74_37 -1 known missense c.1460 p.R487Q 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT6 HGNC ENSG00000134207 121 0 0 50 47 48.4536 FLG 0 genome.wustl.edu 37 1 152276824 152276824 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 152276824 152276824 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.10538 p.A3513V 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 471 1 0.211864 344 136 28.3333 RUSC1 0 genome.wustl.edu 37 1 155296538 155296538 + Nonsense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 155296538 155296538 C T SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known nonsense c.2029 p.Q677* 0.003 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 149 0 0 117 60 33.8983 USP21 0 genome.wustl.edu 37 1 161134896 161134896 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 161134896 161134896 C T SNP USP21 ENST00000289865 human ensembl 74_37 +1 known missense c.1570 p.R524W 0.977 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP21 HGNC ENSG00000143258 129 0 0 92 38 29.2308 NBPF1 0 genome.wustl.edu 37 1 16907958 16907958 + Nonsense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 16907958 16907958 G A SNP NBPF1 ENST00000430580 human ensembl 74_37 -1 novel nonsense c.1336 p.Q446* 0.015 NULL pfam_NBPF_dom - no_errors NBPF1 HGNC ENSG00000219481 765 0 0 589 39 6.21019 GAS5 0 genome.wustl.edu 37 1 173833340 173833340 + RNA SNP T T C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 173833340 173833340 T C SNP GAS5 ENST00000363840 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GAS5 HGNC ENSG00000234741 60 0 0 42 22 34.375 UBR4 0 genome.wustl.edu 37 1 19441940 19441940 + Missense_Mutation SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 19441940 19441940 C G SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.11015 p.G3672A 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 127 0 0 52 38 42.2222 HTR6 0 genome.wustl.edu 37 1 20005855 20005855 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 20005855 20005855 G A SNP HTR6 ENST00000289753 human ensembl 74_37 +1 known silent c.1317 p.T439 0.994 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn - no_errors HTR6 HGNC ENSG00000158748 32 0 0 11 8 42.1053 TRAF3IP3 0 genome.wustl.edu 37 1 209951479 209951479 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 209951479 209951479 G C SNP TRAF3IP3 ENST00000367024 human ensembl 74_37 +1 known missense c.1213 p.E405Q 0.996 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 54 0 0 41 16 28.0702 ATF3 0 genome.wustl.edu 37 1 212792825 212792825 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 212792825 212792825 G C SNP ATF3 ENST00000341491 human ensembl 74_37 +1 known missense c.474 p.Q158H 1.000 prints_Leuzip_Fos pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors ATF3 HGNC ENSG00000162772 91 0 0 77 34 30.6306 MIA3 0 genome.wustl.edu 37 1 222801443 222801443 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 222801443 222801443 G A SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known missense c.881 p.R294K 0.313 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 113 0 0 84 33 28.2051 PYCR2 0 genome.wustl.edu 37 1 226109907 226109907 + Missense_Mutation SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 226109907 226109907 C G SNP PYCR2 ENST00000343818 human ensembl 74_37 -1 known missense c.315 p.E105D 1.000 pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCR2 HGNC ENSG00000143811 53 0 0 47 19 28.7879 THEMIS2 0 genome.wustl.edu 37 1 28209140 28209140 + Missense_Mutation SNP T T A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 28209140 28209140 T A SNP THEMIS2 ENST00000373921 human ensembl 74_37 +1 known missense c.1305 p.S435R 0.000 NULL NULL - no_errors THEMIS2 HGNC ENSG00000130775 101 0 0 42 27 39.1304 NCDN 0 genome.wustl.edu 37 1 36026175 36026175 + Silent SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 36026175 36026175 G C SNP NCDN ENST00000356090 human ensembl 74_37 +1 known silent c.423 p.G141 0.518 NULL NULL - no_errors NCDN HGNC ENSG00000020129 277 0 0 111 55 33.1325 TTC4 0 genome.wustl.edu 37 1 55188388 55188388 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 55188388 55188388 C T SNP TTC4 ENST00000371281 human ensembl 74_37 +1 known silent c.510 p.A170 0.085 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC4 HGNC ENSG00000243725 214 0 0 101 69 40.5882 KANK4 0 genome.wustl.edu 37 1 62704051 62704051 + Silent SNP A A C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 1 62704051 62704051 A C SNP KANK4 ENST00000371153 human ensembl 74_37 -1 known silent c.2886 p.A962 0.980 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom 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 87 0 0 30 32 51.6129 PYROXD2 0 genome.wustl.edu 37 10 100159985 100159985 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 10 100159985 100159985 G C SNP PYROXD2 ENST00000370575 human ensembl 74_37 -1 known missense c.345 p.N115K 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase - no_errors PYROXD2 HGNC ENSG00000119943 79 0 0 79 28 26.1682 SORCS1 0 genome.wustl.edu 37 10 108924012 108924012 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 10 108924012 108924012 C T SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known silent c.273 p.R91 0.421 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 38 0 0 40 9 18.3673 PNLIP 0 genome.wustl.edu 37 10 118315528 118315528 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 10 118315528 118315528 G A SNP PNLIP ENST00000369221 human ensembl 74_37 +1 known silent c.828 p.A276 0.060 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase,prints_Lipase_panc - no_errors PNLIP HGNC ENSG00000175535 197 0 0 215 70 24.5614 PARD3 0 genome.wustl.edu 37 10 34630665 34630665 + Silent SNP A A G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 10 34630665 34630665 A G SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known silent c.2307 p.L769 0.876 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 130 0 0 138 34 19.7674 HNRNPF 0 genome.wustl.edu 37 10 43882562 43882562 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 10 43882562 43882562 G A SNP HNRNPF ENST00000337970 human ensembl 74_37 -1 known silent c.771 p.T257 0.832 pfam_Znf_CHHC pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPF HGNC ENSG00000169813 94 0 0 34 100 74.6269 SFMBT2 0 genome.wustl.edu 37 10 7242396 7242396 + Missense_Mutation SNP A A T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 10 7242396 7242396 A T SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.1538 p.F513Y 0.102 NULL 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 96 0 0 43 94 68.6131 BMPR1A 0 genome.wustl.edu 37 10 88681425 88681425 + Nonsense_Mutation SNP G G T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 10 88681425 88681425 G T SNP BMPR1A ENST00000372037 human ensembl 74_37 +1 known nonsense c.1315 p.E439* 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_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR1A HGNC ENSG00000107779 176 0 0 17 174 91.0995 PANK1 0 genome.wustl.edu 37 10 91404938 91404938 + Missense_Mutation SNP C C A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 10 91404938 91404938 C A SNP PANK1 ENST00000307534 human ensembl 74_37 -1 known missense c.122 p.G41V 0.000 NULL pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK1 HGNC ENSG00000152782 19 0 0 25 4 13.7931 IDE 0 genome.wustl.edu 37 10 94223573 94223573 + Silent SNP A A G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 10 94223573 94223573 A G SNP IDE ENST00000265986 human ensembl 74_37 -1 known silent c.2676 p.R892 1.000 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 244 0 0 242 79 24.6106 BUD13 0 genome.wustl.edu 37 11 116643657 116643657 + Silent SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 116643657 116643657 G C SNP BUD13 ENST00000260210 human ensembl 74_37 -1 known silent c.24 p.S8 1.000 NULL pfam_Bud13 - no_errors BUD13 HGNC ENSG00000137656 33 0 0 10 4 28.5714 VSIG2 0 genome.wustl.edu 37 11 124621977 124621977 + Silent SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 124621977 124621977 C G SNP VSIG2 ENST00000326621 human ensembl 74_37 -1 known silent c.57 p.L19 0.043 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG2 HGNC ENSG00000019102 36 0 0 14 8 36.3636 E2F8 0 genome.wustl.edu 37 11 19258993 19258993 + Missense_Mutation SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 19258993 19258993 C G SNP E2F8 ENST00000250024 human ensembl 74_37 -1 known missense c.319 p.E107Q 1.000 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 77 0 0 25 16 39.0244 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5624747 5624747 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 5624747 5624747 C T SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 +1 known missense c.289 p.R97W 0.747 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,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 99 0 0 32 33 50.7692 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5664681 5664681 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 5664681 5664681 G C SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 +1 known missense c.2271 p.Q757H 0.084 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,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_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 170 0 0 76 43 36.1345 MYRF 0 genome.wustl.edu 37 11 61544890 61544890 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 61544890 61544890 C T SNP MYRF ENST00000278836 human ensembl 74_37 +1 known missense c.1745 p.S582L 0.999 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 55 0 0 5 38 88.3721 ASRGL1 0 genome.wustl.edu 37 11 62124549 62124549 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 62124549 62124549 G C SNP ASRGL1 ENST00000301776 human ensembl 74_37 +1 known missense c.424 p.E142Q 0.979 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors ASRGL1 HGNC ENSG00000162174 94 0 0 40 30 42.8571 SIPA1 0 genome.wustl.edu 37 11 65417081 65417081 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 65417081 65417081 C T SNP SIPA1 ENST00000394224 human ensembl 74_37 +1 known missense c.2575 p.L859F 1.000 NULL pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1 HGNC ENSG00000213445 213 0 0 99 33 25 USP35 0 genome.wustl.edu 37 11 77921619 77921619 + Silent SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 77921619 77921619 C G SNP USP35 ENST00000529308 human ensembl 74_37 +1 known silent c.2718 p.V906 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 192 0 0 98 54 35.5263 TENM4 0 genome.wustl.edu 37 11 78387370 78387370 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 78387370 78387370 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.5323 p.G1775S 1.000 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 54 0 0 25 17 40.4762 FOLH1B 0 genome.wustl.edu 37 11 89421771 89421771 + RNA SNP G G T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 89421771 89421771 G T SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FOLH1B HGNC ENSG00000134612 133 0 0 66 49 42.6087 TCTN2 0 genome.wustl.edu 37 12 124179826 124179826 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 12 124179826 124179826 G C SNP TCTN2 ENST00000303372 human ensembl 74_37 +1 known missense c.1294 p.E432Q 0.089 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN2 HGNC ENSG00000168778 141 0 0 236 49 17.193 KRAS 0 genome.wustl.edu 37 12 25378562 25378562 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 12 25378562 25378562 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.436 p.A146T 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,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_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 KRAS HGNC ENSG00000133703 135 0 0 58 132 69.4737 SSPN 0 genome.wustl.edu 37 12 26383695 26383695 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 12 26383695 26383695 G A SNP SSPN ENST00000242729 human ensembl 74_37 +1 known missense c.418 p.V140M 0.958 pfam_CD20-like pfam_CD20-like - no_errors SSPN HGNC ENSG00000123096 105 0 0 125 32 20.3822 TROAP 0 genome.wustl.edu 37 12 49719629 49719629 + Nonsense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 12 49719629 49719629 C T SNP TROAP ENST00000257909 human ensembl 74_37 +1 known nonsense c.595 p.R199* 0.203 NULL NULL - no_errors TROAP HGNC ENSG00000135451 77 0 0 31 83 72.807 KCNA1 0 genome.wustl.edu 37 12 5021955 5021955 + Missense_Mutation SNP G G T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 12 5021955 5021955 G T SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known missense c.1411 p.V471F 1.000 prints_K_chnl_volt-dep_Kv1.1 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,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 226 0 0 119 247 67.4863 C12orf10 0 genome.wustl.edu 37 12 53699698 53699698 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 12 53699698 53699698 G C SNP C12orf10 ENST00000549488 human ensembl 74_37 +1 putative missense c.7 p.E3Q 1.000 pfam_Met-dep_prot_hydro pfam_Met-dep_prot_hydro - no_errors C12orf10 HGNC ENSG00000139637 119 0 0 149 29 16.2921 C12orf10 0 genome.wustl.edu 37 12 53699752 53699752 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 12 53699752 53699752 G A SNP C12orf10 ENST00000549488 human ensembl 74_37 +1 putative missense c.61 p.E21K 1.000 pfam_Met-dep_prot_hydro pfam_Met-dep_prot_hydro - no_errors C12orf10 HGNC ENSG00000139637 142 0 0 192 26 11.9266 TSPAN31 0 genome.wustl.edu 37 12 58140371 58140371 + Splice_Site SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 12 58140371 58140371 G C SNP TSPAN31 ENST00000257910 human ensembl 74_37 +1 known splice_site c.313-1 e4-1 1.000 - - - no_errors TSPAN31 HGNC ENSG00000135452 76 0 0 146 24 14.1176 CCT2 0 genome.wustl.edu 37 12 69981976 69981976 + Missense_Mutation SNP T T C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 12 69981976 69981976 T C SNP CCT2 ENST00000299300 human ensembl 74_37 +1 known missense c.380 p.I127T 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_beta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta - no_errors CCT2 HGNC ENSG00000166226 120 0 0 130 34 20.7317 CLECL1 0 genome.wustl.edu 37 12 9875317 9875317 + Missense_Mutation SNP T T C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 12 9875317 9875317 T C SNP CLECL1 ENST00000327839 human ensembl 74_37 -1 known missense c.409 p.K137E 0.011 superfamily_C-type_lectin_fold superfamily_C-type_lectin_fold - no_errors CLECL1 HGNC ENSG00000184293 115 0 0 171 34 16.5854 FGF14 0 genome.wustl.edu 37 13 102568924 102568924 + Silent SNP C C A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 13 102568924 102568924 C A SNP FGF14 ENST00000376143 human ensembl 74_37 -1 known silent c.72 p.P24 0.998 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 37 0 0 41 4 8.88889 SLITRK5 0 genome.wustl.edu 37 13 88329699 88329699 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 13 88329699 88329699 G C SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.2056 p.V686L 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 112 0 0 73 24 24.7423 GPC6 0 genome.wustl.edu 37 13 94482694 94482694 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 13 94482694 94482694 G A SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.607 p.V203M 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 87 0 0 47 25 34.7222 MARK3 0 genome.wustl.edu 37 14 103925081 103925081 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 14 103925081 103925081 G A SNP MARK3 ENST00000416682 human ensembl 74_37 +1 known silent c.501 p.Q167 0.000 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_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK3 HGNC ENSG00000075413 16 0 0 1 8 88.8889 PPP1R13B 0 genome.wustl.edu 37 14 104206598 104206598 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 14 104206598 104206598 C T SNP PPP1R13B ENST00000202556 human ensembl 74_37 -1 known missense c.2155 p.G719R 1.000 NULL 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_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 156 0 0 121 15 11.0294 IPO4 0 genome.wustl.edu 37 14 24654109 24654109 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 14 24654109 24654109 C T SNP IPO4 ENST00000354464 human ensembl 74_37 -1 known missense c.1486 p.A496T 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC ENSG00000196497 54 0 0 35 13 27.0833 NIN 0 genome.wustl.edu 37 14 51226636 51226636 + Missense_Mutation SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 14 51226636 51226636 C G SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.2338 p.E780Q 0.994 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 281 0 0 204 107 34.4051 TGM7 0 genome.wustl.edu 37 15 43569080 43569080 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 43569080 43569080 G A SNP TGM7 ENST00000452443 human ensembl 74_37 -1 known silent c.1953 p.I651 0.008 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 73 0 0 37 31 45.5882 TGM7 0 genome.wustl.edu 37 15 43569089 43569089 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 43569089 43569089 G A SNP TGM7 ENST00000452443 human ensembl 74_37 -1 known silent c.1944 p.S648 0.988 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 74 0 0 41 31 43.0556 SERINC4 0 genome.wustl.edu 37 15 44087253 44087253 + Missense_Mutation SNP A A C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 44087253 44087253 A C SNP SERINC4 ENST00000249714 human ensembl 74_37 -1 known missense c.770 p.L257W 0.042 NULL pfam_TMS_TDE - no_errors SERINC4 HGNC ENSG00000184716 146 0 0 65 41 38.6792 B2M 0 genome.wustl.edu 37 15 45007719 45007719 + Nonsense_Mutation SNP G G T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 45007719 45007719 G T SNP B2M ENST00000544417 human ensembl 74_37 +1 known nonsense c.166 p.E56* 0.202 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 194 0 0 100 54 35.0649 B2M 0 genome.wustl.edu 37 15 45007752 45007752 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 45007752 45007752 G C SNP B2M ENST00000544417 human ensembl 74_37 +1 known missense c.199 p.E67Q 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 174 0 0 99 48 32.6531 ATP8B4 0 genome.wustl.edu 37 15 50264940 50264940 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 50264940 50264940 C T SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.1082 p.R361Q 0.998 tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase 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 ATP8B4 HGNC ENSG00000104043 57 0 0 11 18 62.069 IGDCC3 0 genome.wustl.edu 37 15 65623494 65623494 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 65623494 65623494 G A SNP IGDCC3 ENST00000327987 human ensembl 74_37 -1 known silent c.1455 p.V485 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 IGDCC3 HGNC ENSG00000174498 380 0 0 175 97 35.6618 SMAD3 0 genome.wustl.edu 37 15 67473643 67473643 + Missense_Mutation SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 67473643 67473643 C G SNP SMAD3 ENST00000327367 human ensembl 74_37 +1 known missense c.723 p.N241K 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD3 HGNC ENSG00000166949 59 0 0 38 19 33.3333 MPI 0 genome.wustl.edu 37 15 75185569 75185569 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 75185569 75185569 C T SNP MPI ENST00000352410 human ensembl 74_37 +1 known missense c.578 p.S193F 1.000 pfam_Man6P_Isoase-1,superfamily_RmlC_Cupin,pirsf_Mannose-6-P_Isomerase,tigrfam_Man6P_Isoase-1 pfam_Man6P_Isoase-1,superfamily_RmlC_Cupin,pirsf_Mannose-6-P_Isomerase,prints_Mannose-6-P_Isomerase,tigrfam_Man6P_Isoase-1 - no_errors MPI HGNC ENSG00000178802 97 0 0 51 30 37.037 SLC28A1 0 genome.wustl.edu 37 15 85488357 85488357 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 15 85488357 85488357 G A SNP SLC28A1 ENST00000286749 human ensembl 74_37 +1 known missense c.1876 p.V626I 0.004 NULL pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A1 HGNC ENSG00000156222 87 0 0 43 30 41.0959 ANKS4B 0 genome.wustl.edu 37 16 21262073 21262073 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 16 21262073 21262073 C T SNP ANKS4B ENST00000311620 human ensembl 74_37 +1 known silent c.1186 p.L396 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKS4B HGNC ENSG00000175311 175 0 0 77 50 39.3701 AMFR 0 genome.wustl.edu 37 16 56397849 56397849 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 16 56397849 56397849 G A SNP AMFR ENST00000290649 human ensembl 74_37 -1 known missense c.1768 p.L590F 1.000 NULL pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING - no_errors AMFR HGNC ENSG00000159461 84 0 0 47 22 31.8841 AMFR 0 genome.wustl.edu 37 16 56397909 56397909 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 16 56397909 56397909 G A SNP AMFR ENST00000290649 human ensembl 74_37 -1 known missense c.1708 p.R570C 1.000 NULL pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING - no_errors AMFR HGNC ENSG00000159461 87 0 0 10 62 86.1111 LRRC36 0 genome.wustl.edu 37 16 67409242 67409242 + Nonsense_Mutation SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 16 67409242 67409242 C G SNP LRRC36 ENST00000541146 human ensembl 74_37 +1 known nonsense c.149 p.S50* 1.000 NULL NULL - no_errors LRRC36 HGNC ENSG00000159708 378 1 0.263852 363 123 25.3086 KRT13 0 genome.wustl.edu 37 17 39659672 39659672 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 17 39659672 39659672 C T SNP KRT13 ENST00000246635 human ensembl 74_37 -1 known missense c.602 p.R201H 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT13 HGNC ENSG00000171401 132 0 0 105 26 19.8473 STAT5A 0 genome.wustl.edu 37 17 40453395 40453395 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 17 40453395 40453395 G C SNP STAT5A ENST00000345506 human ensembl 74_37 +1 known missense c.1092 p.M364I 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 155 0 0 101 64 38.7879 FMNL1 0 genome.wustl.edu 37 17 43323028 43323028 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 17 43323028 43323028 C T SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known silent c.2922 p.F974 0.996 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 171 0 0 142 53 27.1795 SPATA20 0 genome.wustl.edu 37 17 48631744 48631744 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 17 48631744 48631744 G A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known missense c.2090 p.R697H 0.861 NULL pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 213 0 0 142 61 30.0493 TBC1D3P2 0 genome.wustl.edu 37 17 60345059 60345059 + RNA SNP A A G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 17 60345059 60345059 A G SNP TBC1D3P2 ENST00000339120 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 108 0 0 14 4 22.2222 MGAT5B 0 genome.wustl.edu 37 17 74922697 74922697 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 17 74922697 74922697 C T SNP MGAT5B ENST00000428789 human ensembl 74_37 +1 known silent c.1209 p.I403 0.659 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 73 0 0 19 31 62 TBC1D16 0 genome.wustl.edu 37 17 77987280 77987280 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 17 77987280 77987280 C T SNP TBC1D16 ENST00000310924 human ensembl 74_37 -1 known missense c.67 p.G23S 0.005 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D16 HGNC ENSG00000167291 15 0 0 0 10 100 MYOM1 0 genome.wustl.edu 37 18 3126753 3126753 + Silent SNP T T C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 18 3126753 3126753 T C SNP MYOM1 ENST00000356443 human ensembl 74_37 -1 known silent c.2937 p.V979 0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 46 0 0 51 16 23.8806 TCF4 0 genome.wustl.edu 37 18 52921845 52921845 + Missense_Mutation SNP C C A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 18 52921845 52921845 C A SNP TCF4 ENST00000398339 human ensembl 74_37 -1 known missense c.1539 p.M513I 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF4 HGNC ENSG00000196628 52 0 0 14 16 53.3333 RYR1 0 genome.wustl.edu 37 19 38966036 38966036 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 19 38966036 38966036 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.4239 p.D1413 0.264 pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 47 0 0 50 14 21.875 RYR1 0 genome.wustl.edu 37 19 39013756 39013756 + Splice_Site SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 19 39013756 39013756 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known splice_site c.10347+1 e68+1 1.000 - - - no_errors RYR1 HGNC ENSG00000196218 104 0 0 58 20 25.641 PSG9 0 genome.wustl.edu 37 19 43772263 43772263 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 19 43772263 43772263 C T SNP PSG9 ENST00000270077 human ensembl 74_37 -1 known missense c.103 p.E35K 0.806 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG9 HGNC ENSG00000183668 300 0 0 226 103 31.307 CD3EAP 0 genome.wustl.edu 37 19 45911470 45911470 + Missense_Mutation SNP G G T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 19 45911470 45911470 G T SNP CD3EAP ENST00000589804 human ensembl 74_37 +1 known missense c.250 p.V84F 0.941 pfam_DNA-dir_RNA_pol1_su_RPA34 pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 219 0 0 175 60 25.5319 CD3EAP 0 genome.wustl.edu 37 19 45912019 45912019 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 19 45912019 45912019 G C SNP CD3EAP ENST00000589804 human ensembl 74_37 +1 known missense c.799 p.E267Q 0.027 NULL pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 167 0 0 91 46 33.5766 CD3EAP 0 genome.wustl.edu 37 19 45912148 45912148 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 19 45912148 45912148 G C SNP CD3EAP ENST00000589804 human ensembl 74_37 +1 known missense c.928 p.E310Q 0.017 NULL pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 173 0 0 138 61 30.6533 NUCB1 0 genome.wustl.edu 37 19 49416330 49416330 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 19 49416330 49416330 G A SNP NUCB1 ENST00000263273 human ensembl 74_37 +1 known missense c.543 p.M181I 1.000 NULL pfscan_EF_hand_dom - no_errors NUCB1 HGNC ENSG00000104805 180 0 0 189 19 9.13462 KIR3DL1 0 genome.wustl.edu 37 19 55341629 55341629 + Missense_Mutation SNP A A T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 19 55341629 55341629 A T SNP KIR3DL1 ENST00000391728 human ensembl 74_37 +1 known missense c.1234 p.T412S 0.005 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 478 0 0 406 151 27.1095 ZNF551 0 genome.wustl.edu 37 19 58198625 58198625 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 19 58198625 58198625 C T SNP ZNF551 ENST00000282296 human ensembl 74_37 +1 known missense c.982 p.R328C 0.000 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 ZNF551 HGNC ENSG00000204519 135 0 0 153 11 6.70732 A1BG 0 genome.wustl.edu 37 19 58858758 58858758 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 19 58858758 58858758 C T SNP A1BG ENST00000263100 human ensembl 74_37 -1 known missense c.1441 p.E481K 0.000 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors A1BG HGNC ENSG00000121410 63 0 0 46 15 24.5902 RGPD4 0 genome.wustl.edu 37 2 108496559 108496559 + Missense_Mutation SNP T T A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 108496559 108496559 T A SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.5060 p.I1687N 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 291 0 0 206 105 33.7621 EN1 0 genome.wustl.edu 37 2 119600774 119600774 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 119600774 119600774 G A SNP EN1 ENST00000295206 human ensembl 74_37 -1 known missense c.919 p.R307W 0.975 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4 - no_errors EN1 HGNC ENSG00000163064 16 0 0 10 12 54.5455 NEB 0 genome.wustl.edu 37 2 152484297 152484297 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 152484297 152484297 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.9883 p.R3295W 0.997 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 345 0 0 308 124 28.7037 CSRNP3 0 genome.wustl.edu 37 2 166532873 166532873 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 166532873 166532873 G C SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known missense c.460 p.D154H 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 363 0 0 294 103 25.9446 MYO3B 0 genome.wustl.edu 37 2 171375991 171375991 + Missense_Mutation SNP A A T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 171375991 171375991 A T SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known missense c.3543 p.E1181D 0.005 NULL pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 59 0 0 40 25 38.4615 ZNF804A 0 genome.wustl.edu 37 2 185801428 185801428 + Silent SNP A A C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 185801428 185801428 A C SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known silent c.1305 p.T435 0.858 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 187 0 0 159 53 25 CALCRL 0 genome.wustl.edu 37 2 188211047 188211047 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 188211047 188211047 C T SNP CALCRL ENST00000392370 human ensembl 74_37 -1 known missense c.1250 p.R417H 1.000 prints_GPCR_2_CGRP1_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_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCRL HGNC ENSG00000064989 70 0 0 32 42 56.7568 COL3A1 0 genome.wustl.edu 37 2 189864260 189864260 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 189864260 189864260 G C SNP COL3A1 ENST00000304636 human ensembl 74_37 +1 known missense c.2186 p.G729A 1.000 NULL 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 120 0 0 106 31 22.6277 PMS1 0 genome.wustl.edu 37 2 190738367 190738367 + Silent SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 190738367 190738367 G C SNP PMS1 ENST00000441310 human ensembl 74_37 +1 known silent c.2619 p.V873 0.777 NULL pfam_DNA_mismatch_repair_C,pfam_HMG_box_dom,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 71 0 0 61 21 25.6098 MPP4 0 genome.wustl.edu 37 2 202545621 202545621 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 202545621 202545621 C T SNP MPP4 ENST00000359962 human ensembl 74_37 -1 known missense c.869 p.R290Q 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,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 MPP4 HGNC ENSG00000082126 48 0 0 61 16 20.7792 CYP20A1 0 genome.wustl.edu 37 2 204161591 204161591 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 204161591 204161591 C T SNP CYP20A1 ENST00000356079 human ensembl 74_37 +1 known missense c.1349 p.S450L 0.976 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV - no_errors CYP20A1 HGNC ENSG00000119004 79 0 0 97 41 29.7101 RHOB 0 genome.wustl.edu 37 2 20647766 20647766 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 20647766 20647766 G A SNP RHOB ENST00000272233 human ensembl 74_37 +1 known silent c.540 p.Q180 1.000 superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOB HGNC ENSG00000143878 158 0 0 65 53 44.9153 HDLBP 0 genome.wustl.edu 37 2 242170209 242170209 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 242170209 242170209 C T SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.3439 p.G1147S 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 60 0 0 54 22 28.9474 EIF2AK3 0 genome.wustl.edu 37 2 88885457 88885457 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 2 88885457 88885457 G C SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known missense c.1552 p.L518V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 158 0 0 73 53 42.0635 RIN2 0 genome.wustl.edu 37 20 19981541 19981541 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 20 19981541 19981541 C T SNP RIN2 ENST00000255006 human ensembl 74_37 +1 known silent c.2796 p.I932 0.857 NULL pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 78 0 0 83 30 26.5487 PHF20 0 genome.wustl.edu 37 20 34526798 34526798 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 20 34526798 34526798 C T SNP PHF20 ENST00000374012 human ensembl 74_37 +1 known missense c.2480 p.P827L 0.773 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC ENSG00000025293 99 0 0 106 31 22.6277 MYBL2 0 genome.wustl.edu 37 20 42331390 42331390 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 20 42331390 42331390 C T SNP MYBL2 ENST00000217026 human ensembl 74_37 +1 known silent c.1212 p.G404 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 103 0 0 98 69 41.3174 SLC12A5 0 genome.wustl.edu 37 20 44682238 44682238 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 20 44682238 44682238 C T SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.2638 p.R880C 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 142 0 0 194 54 21.7742 SLC35C2 0 genome.wustl.edu 37 20 44980832 44980832 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 20 44980832 44980832 C T SNP SLC35C2 ENST00000543605 human ensembl 74_37 -1 known missense c.782 p.R261H 1.000 pfam_Tpt_PEP_trans_dom,pfam_UAA pfam_Tpt_PEP_trans_dom,pfam_UAA - no_errors SLC35C2 HGNC ENSG00000080189 178 0 0 208 40 16.129 CDH26 0 genome.wustl.edu 37 20 58569352 58569352 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 20 58569352 58569352 G C SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known missense c.1474 p.D492H 0.111 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 105 0 0 100 37 27.0073 DIDO1 0 genome.wustl.edu 37 20 61526264 61526264 + Silent SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 20 61526264 61526264 C G SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known silent c.2334 p.V778 0.005 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 197 0 0 215 61 22.1014 LIPI 0 genome.wustl.edu 37 21 15517046 15517046 + Nonsense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 21 15517046 15517046 G C SNP LIPI ENST00000344577 human ensembl 74_37 -1 known nonsense c.1256 p.S419* 1.000 pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPI HGNC ENSG00000188992 92 0 0 83 22 20.9524 B3GALT5 0 genome.wustl.edu 37 21 41033308 41033308 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 21 41033308 41033308 C T SNP B3GALT5 ENST00000343118 human ensembl 74_37 +1 known silent c.822 p.S274 0.104 NULL pfam_Glyco_trans_31 - no_errors B3GALT5 HGNC ENSG00000183778 174 0 0 76 45 37.1901 GAB4 0 genome.wustl.edu 37 22 17444667 17444667 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 22 17444667 17444667 G A SNP GAB4 ENST00000400588 human ensembl 74_37 -1 known missense c.1529 p.P510L 0.384 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 59 0 0 22 19 46.3415 MICAL3 0 genome.wustl.edu 37 22 18364012 18364012 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 22 18364012 18364012 G A SNP MICAL3 ENST00000429452 human ensembl 74_37 -1 known missense c.2299 p.P767S 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 116 0 0 51 38 42.6966 NCF4 0 genome.wustl.edu 37 22 37273825 37273825 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 22 37273825 37273825 C T SNP NCF4 ENST00000248899 human ensembl 74_37 +1 known missense c.980 p.T327M 1.000 pfam_OPR_PB1,smart_OPR_PB1 pfam_Phox,pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,smart_OPR_PB1,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox - no_errors NCF4 HGNC ENSG00000100365 50 0 0 23 14 37.8378 PKDREJ 0 genome.wustl.edu 37 22 46657257 46657257 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 22 46657257 46657257 G C SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.1963 p.L655V 0.178 pfam_PKD/REJ-like,pfscan_REJ-like 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 158 0 0 78 59 43.0657 CHKB 0 genome.wustl.edu 37 22 51019914 51019914 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 22 51019914 51019914 C T SNP CHKB ENST00000406938 human ensembl 74_37 -1 known silent c.516 p.A172 0.993 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKB HGNC ENSG00000100288 61 0 0 18 14 43.75 IGSF10 0 genome.wustl.edu 37 3 151161458 151161458 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 3 151161458 151161458 G A SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known silent c.5277 p.S1759 0.054 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 88 0 0 72 41 36.2832 LPP 0 genome.wustl.edu 37 3 188327526 188327526 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 3 188327526 188327526 G C SNP LPP ENST00000312675 human ensembl 74_37 +1 known missense c.1007 p.G336A 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC ENSG00000145012 110 0 0 62 27 30.3371 RAB5A 0 genome.wustl.edu 37 3 20017591 20017591 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 3 20017591 20017591 G A SNP RAB5A ENST00000273047 human ensembl 74_37 +1 known missense c.368 p.S123N 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,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 RAB5A HGNC ENSG00000144566 84 0 0 76 42 35.5932 GOLGA4 0 genome.wustl.edu 37 3 37367630 37367630 + Missense_Mutation SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 3 37367630 37367630 C G SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known missense c.4253 p.S1418C 0.137 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 116 0 0 101 36 26.2774 XIRP1 0 genome.wustl.edu 37 3 39226540 39226540 + Missense_Mutation SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 3 39226540 39226540 C G SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.4397 p.R1466T 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 196 0 0 117 46 28.2209 CADM2 0 genome.wustl.edu 37 3 86114777 86114777 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 3 86114777 86114777 G A SNP CADM2 ENST00000405615 human ensembl 74_37 +1 known silent c.1092 p.Q364 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM2 HGNC ENSG00000175161 71 0 0 67 26 27.957 OR5H14 0 genome.wustl.edu 37 3 97868758 97868758 + Missense_Mutation SNP T T G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 3 97868758 97868758 T G SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known missense c.529 p.F177V 0.528 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 OR5H14 HGNC ENSG00000236032 156 0 0 107 57 34.7561 TRPC3 0 genome.wustl.edu 37 4 122831496 122831496 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 4 122831496 122831496 C T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known silent c.1605 p.R535 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 126 0 0 66 39 37.1429 FAT4 0 genome.wustl.edu 37 4 126370464 126370464 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 4 126370464 126370464 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.8293 p.D2765N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 214 0 0 103 69 40.1163 CCDC110 0 genome.wustl.edu 37 4 186392204 186392204 + Splice_Site SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 4 186392204 186392204 C G SNP CCDC110 ENST00000307588 human ensembl 74_37 -1 known splice_site c.11-1 e2-1 0.945 - - - no_errors CCDC110 HGNC ENSG00000168491 189 0 0 89 61 40.6667 PPAT 0 genome.wustl.edu 37 4 57272837 57272837 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 4 57272837 57272837 C T SNP PPAT ENST00000264220 human ensembl 74_37 -1 known missense c.226 p.E76K 1.000 pfam_GATase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans pfam_GATase_dom,pfam_PRibTrfase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans - no_errors PPAT HGNC ENSG00000128059 50 0 0 33 13 28.2609 TRPC7 0 genome.wustl.edu 37 5 135692643 135692643 + Nonsense_Mutation SNP C C A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 5 135692643 135692643 C A SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known nonsense c.433 p.E145* 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 153 0 0 91 39 30 AFAP1L1 0 genome.wustl.edu 37 5 148685960 148685960 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 5 148685960 148685960 G C SNP AFAP1L1 ENST00000296721 human ensembl 74_37 +1 known missense c.528 p.K176N 0.993 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC ENSG00000157510 33 0 0 23 20 46.5116 FBXL7 0 genome.wustl.edu 37 5 15936911 15936911 + Silent SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 5 15936911 15936911 C T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known silent c.1092 p.T364 0.606 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 43 0 0 55 12 17.9104 REV3L 0 genome.wustl.edu 37 6 111628643 111628643 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 6 111628643 111628643 C T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.9173 p.R3058Q 1.000 NULL pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 159 0 0 65 39 37.5 REV3L 0 genome.wustl.edu 37 6 111689032 111689032 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 6 111689032 111689032 C T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.5959 p.V1987I 0.996 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 132 0 0 82 49 37.4046 NEDD9 0 genome.wustl.edu 37 6 11185831 11185831 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 6 11185831 11185831 G C SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known missense c.2069 p.S690C 0.999 pfam_CAS_DUF3513 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 86 0 0 66 32 32.6531 KIAA1244 0 genome.wustl.edu 37 6 138618056 138618056 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 6 138618056 138618056 G A SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.3612 p.M1204I 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 139 0 0 66 52 44.0678 JARID2 0 genome.wustl.edu 37 6 15501390 15501390 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 6 15501390 15501390 G A SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.2198 p.R733H 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 263 0 0 196 78 28.4672 NOTCH4 0 genome.wustl.edu 37 6 32163612 32163612 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 6 32163612 32163612 C T SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.5614 p.G1872R 0.003 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,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,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 34 0 0 22 6 21.4286 POLR1C 0 genome.wustl.edu 37 6 43488069 43488069 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 6 43488069 43488069 G C SNP POLR1C ENST00000372389 human ensembl 74_37 +1 known missense c.559 p.E187Q 0.995 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR1C HGNC ENSG00000171453 167 0 0 170 58 25.4386 RIMS1 0 genome.wustl.edu 37 6 73043512 73043512 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 6 73043512 73043512 G A SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.4340 p.R1447K 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 16 0 0 6 9 60 COL12A1 0 genome.wustl.edu 37 6 75893724 75893724 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 6 75893724 75893724 G A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known silent c.1134 p.H378 0.513 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 190 0 0 86 68 44.1558 EPO 0 genome.wustl.edu 37 7 100320428 100320428 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 100320428 100320428 C T SNP EPO ENST00000252723 human ensembl 74_37 +1 known missense c.388 p.R130C 0.962 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 108 0 0 72 31 30.0971 LRRC4 0 genome.wustl.edu 37 7 127670418 127670418 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 127670418 127670418 G A SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known silent c.276 p.A92 0.817 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,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,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 153 0 0 93 46 33.0935 IMPDH1 0 genome.wustl.edu 37 7 128040903 128040903 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 128040903 128040903 C T SNP IMPDH1 ENST00000338791 human ensembl 74_37 -1 known missense c.547 p.E183K 1.000 pfam_IMP_DH_GMPRt,tigrfam_IMP_DH pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_CBS_dom,tigrfam_IMP_DH - no_errors IMPDH1 HGNC ENSG00000106348 148 0 0 134 48 26.3736 CARD11 0 genome.wustl.edu 37 7 2984021 2984021 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 2984021 2984021 C T SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.509 p.R170H 0.975 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 183 0 0 134 53 28.3422 CCDC129 0 genome.wustl.edu 37 7 31690788 31690788 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 31690788 31690788 G A SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known silent c.2694 p.T898 0.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 112 0 0 96 42 30.4348 PKD1L1 0 genome.wustl.edu 37 7 47897384 47897384 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 47897384 47897384 C T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.4409 p.R1470Q 0.000 pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 62 0 0 79 5 5.95238 IKZF1 0 genome.wustl.edu 37 7 50444276 50444276 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 50444276 50444276 G A SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known missense c.206 p.R69H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 135 0 0 108 38 26.0274 LANCL2 0 genome.wustl.edu 37 7 55496107 55496107 + Missense_Mutation SNP C C T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 55496107 55496107 C T SNP LANCL2 ENST00000254770 human ensembl 74_37 +1 known missense c.1225 p.R409C 1.000 pfam_LANC-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL2 HGNC ENSG00000132434 76 0 0 60 23 27.7108 NXPH1 0 genome.wustl.edu 37 7 8791071 8791071 + Missense_Mutation SNP T T C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 8791071 8791071 T C SNP NXPH1 ENST00000405863 human ensembl 74_37 +1 known missense c.488 p.V163A 1.000 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH1 HGNC ENSG00000122584 78 0 0 62 10 13.8889 NPTX2 0 genome.wustl.edu 37 7 98257885 98257885 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 98257885 98257885 G A SNP NPTX2 ENST00000265634 human ensembl 74_37 +1 known missense c.1240 p.G414R 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX2 HGNC ENSG00000106236 30 0 0 20 11 35.4839 TRRAP 0 genome.wustl.edu 37 7 98547370 98547370 + Missense_Mutation SNP G G C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 7 98547370 98547370 G C SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.5020 p.E1674Q 1.000 superfamily_ARM-type_fold 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 110 0 0 80 37 31.6239 EIF3E 0 genome.wustl.edu 37 8 109215229 109215229 + Nonsense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 8 109215229 109215229 G A SNP EIF3E ENST00000220849 human ensembl 74_37 -1 known nonsense c.1282 p.Q428* 1.000 pirsf_eIF3e pfam_eIF3e_N,pfam_PCI_dom,smart_PCI_dom,pirsf_eIF3e - no_errors EIF3E HGNC ENSG00000104408 124 0 0 152 39 20.4188 MTBP 0 genome.wustl.edu 37 8 121500557 121500557 + Nonsense_Mutation SNP G G T TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 8 121500557 121500557 G T SNP MTBP ENST00000305949 human ensembl 74_37 +1 known nonsense c.1324 p.E442* 0.900 NULL NULL - no_errors MTBP HGNC ENSG00000172167 43 0 0 48 14 22.5806 GSDMC 0 genome.wustl.edu 37 8 130789618 130789618 + Silent SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 8 130789618 130789618 G A SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known silent c.216 p.V72 0.998 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 46 0 0 56 49 46.6667 EFR3A 0 genome.wustl.edu 37 8 132988283 132988283 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 8 132988283 132988283 G A SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known missense c.1169 p.G390E 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 17 0 0 18 5 21.7391 SET 0 genome.wustl.edu 37 9 131455255 131455255 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 9 131455255 131455255 G A SNP SET ENST00000372692 human ensembl 74_37 +1 known missense c.526 p.G176R 1.000 pfam_NAP_family pfam_NAP_family - no_errors SET HGNC ENSG00000119335 58 0 0 58 19 24.6753 FREM1 0 genome.wustl.edu 37 9 14784491 14784491 + Missense_Mutation SNP C C A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 9 14784491 14784491 C A SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.4322 p.G1441V 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 66 0 0 28 17 37.7778 TPM2 0 genome.wustl.edu 37 9 35684736 35684736 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 9 35684736 35684736 G A SNP TPM2 ENST00000360958 human ensembl 74_37 -1 known missense c.632 p.A211V 1.000 pfam_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM2 HGNC ENSG00000198467 116 0 0 13 69 84.1463 MT-ND5 0 genome.wustl.edu 37 MT 12889 12889 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 MT 12889 12889 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.553 p.A185T 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 284 0 0 10 113 91.8699 MT-RNR2 0 genome.wustl.edu 37 MT 2573 2573 + RNA SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 MT 2573 2573 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 281 0 0 88 29 24.7863 MT-RNR2 0 genome.wustl.edu 37 MT 2780 2780 + RNA SNP C C A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 MT 2780 2780 C A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 246 0 0 26 75 74.2574 SLITRK2 0 genome.wustl.edu 37 X 144905375 144905375 + Missense_Mutation SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 X 144905375 144905375 C G SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known missense c.1432 p.L478V 1.000 smart_Leu-rich_rpt_typical-subtyp 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 375 0 0 293 129 30.5687 IL1RAPL1 0 genome.wustl.edu 37 X 29301098 29301098 + Missense_Mutation SNP A A C TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 X 29301098 29301098 A C SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known missense c.126 p.Q42H 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 93 0 0 11 30 73.1707 RPGR 0 genome.wustl.edu 37 X 38145180 38145180 + Missense_Mutation SNP C C G TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 X 38145180 38145180 C G SNP RPGR ENST00000378505 human ensembl 74_37 -1 known missense c.3072 p.E1024D 0.000 NULL pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 22 0 0 1 8 88.8889 KAL1 0 genome.wustl.edu 37 X 8538713 8538713 + Missense_Mutation SNP G G A TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 X 8538713 8538713 G A SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known missense c.889 p.R297W 0.069 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 56 0 0 10 11 52.381 NAALADL1 0 genome.wustl.edu 37 11 64815685 64815687 + In_Frame_Del DEL CTC CTC - TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 11 64815685 64815687 CTC - DEL NAALADL1 ENST00000358658 human ensembl 74_37 -1 known in_frame_del c.1287_1285 p.E429in_frame_del 0.996:1.000:1.000 pfam_Peptidase_M28 pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALADL1 HGNC ENSG00000168060 246 0 0 121 54 30.8571 KCNJ16 0 genome.wustl.edu 37 17 68128377 68128377 + Frame_Shift_Del DEL T T - TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 17 68128377 68128377 T - DEL KCNJ16 ENST00000283936 human ensembl 74_37 +1 known frame_shift_del c.149 p.F51fs 0.773 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir - no_errors KCNJ16 HGNC ENSG00000153822 183 0 0 107 64 37.4269 SIGLEC7 0 genome.wustl.edu 37 19 51645627 51645628 + In_Frame_Ins INS - - TGC TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 19 51645627 51645628 - TGC INS SIGLEC7 ENST00000317643 human ensembl 74_37 +1 known in_frame_ins c.1_2 p.5in_frame_insL 0.506:0.564 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC7 HGNC ENSG00000168995 58 0 0 59 12 16.9014 SYN2 0 genome.wustl.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 3 12046124 12046126 AGC - DEL SYN2 ENST00000426379 human ensembl 74_37 +1 known rna NULL NULL 0.710:0.518:0.471 - - - no_errors SYN2 HGNC ENSG00000157152 11 0 0 6 2 25 CCNC 0 genome.wustl.edu 37 6 99997433 99997433 + Frame_Shift_Del DEL G G - TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 6 99997433 99997433 G - DEL CCNC ENST00000520429 human ensembl 74_37 -1 known frame_shift_del c.549 p.Y184fs 1.000 superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC - no_errors CCNC HGNC ENSG00000112237 47 0 0 20 12 37.5 ENSG00000225411 0 genome.wustl.edu 37 9 68400860 68400860 + RNA DEL C C - TCGA-D7-A74A-01A-11D-A32N-08 TCGA-D7-A74A-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57c1c40a-2b9f-4e21-889e-98344664c63c 50a48d8a-6195-433a-9da7-12b2e4b79735 9 68400860 68400860 C - DEL ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.058 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 8 0 0 5 2 28.5714