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 AAR2 0 genome.wustl.edu 37 20 34828331 34828331 + Missense_Mutation SNP T T C TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 20 34828331 34828331 T C SNP AAR2 ENST00000320849 human ensembl 74_37 +1 known missense c.541 p.C181R 0.072 pfam_AAR2 pfam_AAR2 - no_errors AAR2 HGNC ENSG00000131043 tier1 - - 36 0 0.00 40 6 13.04 ABCA13 0 genome.wustl.edu 37 7 48315394 48315394 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 7 48315394 48315394 G T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.6131 p.S2044I 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 15 0 0.00 16 2 11.11 ACAD10 0 genome.wustl.edu 37 12 112153654 112153654 + Missense_Mutation SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 12 112153654 112153654 G A SNP ACAD10 ENST00000455480 human ensembl 74_37 +1 known missense c.973 p.G325R 0.998 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors ACAD10 HGNC ENSG00000111271 tier1 - - 48 0 0.00 57 5 8.06 ACKR4 0 genome.wustl.edu 37 3 132320087 132320087 + Silent SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 3 132320087 132320087 C T SNP ACKR4 ENST00000249887 human ensembl 74_37 +1 known silent c.846 p.D282 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCRL1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors ACKR4 HGNC ENSG00000129048 tier1 - - 54 0 0.00 88 5 5.38 AFF3 0 genome.wustl.edu 37 2 100182070 100182070 + Missense_Mutation SNP T T C TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 2 100182070 100182070 T C SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.3073 p.K1025E 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 42 0 0.00 47 3 6.00 AKTIP 0 genome.wustl.edu 37 16 53526624 53526624 + Missense_Mutation SNP T T A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 16 53526624 53526624 T A SNP AKTIP ENST00000300245 human ensembl 74_37 -1 known missense c.752 p.E251V 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors AKTIP HGNC ENSG00000166971 23 0 0.00 21 3 12.50 ANKMY2 0 genome.wustl.edu 37 7 16655488 16655488 + Nonsense_Mutation SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 7 16655488 16655488 G A SNP ANKMY2 ENST00000306999 human ensembl 74_37 -1 known nonsense c.412 p.R138* 1.000 smart_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY2 HGNC ENSG00000106524 tier1 - - 30 0 0.00 20 16 44.44 ARF3 0 genome.wustl.edu 37 12 49332344 49332345 + RNA INS - - C TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 12 49332344 49332345 - C INS ARF3 ENST00000485410 human ensembl 74_37 -1 known rna NULL NULL 0.597:0.582 - - - no_errors ARF3 HGNC ENSG00000134287 tier1 10 0 0.00 4 7 63.64 ARHGAP5 0 genome.wustl.edu 37 14 32560528 32560528 + Missense_Mutation SNP A A G TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 14 32560528 32560528 A G SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.653 p.N218S 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 tier1 - - 29 0 0.00 22 6 21.43 ARHGEF2 0 genome.wustl.edu 37 1 155922445 155922445 + Missense_Mutation SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 1 155922445 155922445 C T SNP ARHGEF2 ENST00000368315 human ensembl 74_37 -1 known missense c.1961 p.R654Q 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 tier1 - - 38 0 0.00 30 17 36.17 ARRB1 0 genome.wustl.edu 37 11 74995295 74995295 + Nonsense_Mutation SNP A A T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 11 74995295 74995295 A T SNP ARRB1 ENST00000393505 human ensembl 74_37 -1 known nonsense c.141 p.Y47* 0.990 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARRB1 HGNC ENSG00000137486 tier1 - - 48 0 0.00 34 21 38.18 ASAP2 0 genome.wustl.edu 37 2 9437480 9437480 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 2 9437480 9437480 G T SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known missense c.251 p.G84V 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 56 0 0.00 49 4 7.55 ASXL1 0 genome.wustl.edu 37 20 30956919 30956919 + Missense_Mutation SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 20 30956919 30956919 C T SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.245 p.T82M 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 tier1 - - 53 0 0.00 69 6 8.00 ATP10D 0 genome.wustl.edu 37 4 47517556 47517556 + Missense_Mutation SNP C C G TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 4 47517556 47517556 C G SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known missense c.354 p.F118L 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 tier1 - - 47 0 0.00 37 12 24.49 AWAT2 0 genome.wustl.edu 37 X 69262136 69262136 + Nonsense_Mutation SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 X 69262136 69262136 G A SNP AWAT2 ENST00000276101 human ensembl 74_37 -1 known nonsense c.748 p.Q250* 0.998 pfam_DAGAT pfam_DAGAT - no_errors AWAT2 HGNC ENSG00000147160 tier1 - - 29 0 0.00 24 4 13.79 C10orf76 0 genome.wustl.edu 37 10 103771512 103771512 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 10 103771512 103771512 G T SNP C10orf76 ENST00000370033 human ensembl 74_37 -1 known missense c.799 p.Q267K 1.000 superfamily_ARM-type_fold pfam_DUF1741,superfamily_ARM-type_fold - no_errors C10orf76 HGNC ENSG00000120029 tier1 - - 53 0 0.00 13 4 23.53 C6orf136 0 genome.wustl.edu 37 6 30615096 30615096 + Missense_Mutation SNP G G C TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 6 30615096 30615096 G C SNP C6orf136 ENST00000293604 human ensembl 74_37 +1 known missense c.88 p.E30Q 0.000 NULL pfam_DUF2358 - no_errors C6orf136 HGNC ENSG00000204564 tier1 - - 57 0 0.00 19 21 52.50 CALR 0 genome.wustl.edu 37 19 13054411 13054411 + Missense_Mutation SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 19 13054411 13054411 G A SNP CALR ENST00000316448 human ensembl 74_37 +1 known missense c.1021 p.E341K 1.000 pirsf_Calreticulin,superfamily_ConA-like_lec_gl_sf pirsf_Calreticulin,pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,prints_Calret/calnex - no_errors CALR HGNC ENSG00000179218 61 0 0.00 38 2 5.00 CARF 0 genome.wustl.edu 37 2 203847041 203847041 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 2 203847041 203847041 G T SNP CARF ENST00000320443 human ensembl 74_37 +1 known missense c.1936 p.D646Y 1.000 NULL NULL - no_errors CARF HGNC ENSG00000138380 tier1 - - 37 0 0.00 15 10 40.00 CCDC14 0 genome.wustl.edu 37 3 123634433 123634433 + Silent SNP A A G TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 3 123634433 123634433 A G SNP CCDC14 ENST00000488653 human ensembl 74_37 -1 known silent c.2055 p.P685 0.004 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 50 0 0.00 93 5 5.10 CCNC 0 genome.wustl.edu 37 6 100006296 100006296 + Frame_Shift_Del DEL A A - TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 6 100006296 100006296 A - DEL CCNC ENST00000482541 human ensembl 74_37 -1 putative frame_shift_del c.423 p.F141fs 0.007 superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNC HGNC ENSG00000112237 tier1 19 0 0.00 13 3 18.75 CD207 0 genome.wustl.edu 37 2 71062833 71062833 + Splice_Site SNP G G C TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 2 71062833 71062833 G C SNP CD207 ENST00000410009 human ensembl 74_37 -1 known splice_site c.73+1 e1+1 1.000 - - - no_errors CD207 HGNC ENSG00000116031 43 0 0.00 33 3 8.33 CD68 0 genome.wustl.edu 37 17 7483026 7483026 + Silent SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 17 7483026 7483026 C T SNP CD68 ENST00000250092 human ensembl 74_37 +1 known silent c.31 p.L11 0.092 NULL pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors CD68 HGNC ENSG00000129226 tier1 - - 78 0 0.00 31 14 31.11 CHD1 0 genome.wustl.edu 37 5 98232051 98232051 + Missense_Mutation SNP T T C TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 5 98232051 98232051 T C SNP CHD1 ENST00000284049 human ensembl 74_37 -1 known missense c.1589 p.Y530C 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 tier1 - - 26 0 0.00 38 6 13.64 CLK4 0 genome.wustl.edu 37 5 178040553 178040553 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 5 178040553 178040553 G T SNP CLK4 ENST00000316308 human ensembl 74_37 -1 known missense c.747 p.F249L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK4 HGNC ENSG00000113240 tier1 - - 42 0 0.00 33 8 19.51 CNTN1 0 genome.wustl.edu 37 12 41323615 41323615 + Missense_Mutation SNP T T C TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 12 41323615 41323615 T C SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.514 p.W172R 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 tier1 - - 40 0 0.00 38 9 19.15 COL26A1 0 genome.wustl.edu 37 7 101063356 101063356 + Missense_Mutation SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 7 101063356 101063356 C T SNP COL26A1 ENST00000313669 human ensembl 74_37 +1 known missense c.257 p.P86L 1.000 pfam_EMI_domain,pfscan_EMI_domain pfam_EMI_domain,pfam_Collagen,pfscan_EMI_domain - no_errors COL26A1 HGNC ENSG00000160963 34 0 0.00 46 3 6.12 CREBBP 0 genome.wustl.edu 37 16 3786138 3786138 + Missense_Mutation SNP C C G TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 16 3786138 3786138 C G SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.4627 p.D1543H 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 tier1 - - 91 0 0.00 59 20 25.32 CSGALNACT2 0 genome.wustl.edu 37 10 43659419 43659419 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 10 43659419 43659419 G T SNP CSGALNACT2 ENST00000374466 human ensembl 74_37 +1 known missense c.1086 p.L362F 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT2 HGNC ENSG00000169826 88 0 0.00 73 4 5.19 CSMD1 0 genome.wustl.edu 37 8 3015451 3015451 + Missense_Mutation SNP C C A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 8 3015451 3015451 C A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.5885 p.R1962L 0.938 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 CSMD1 HGNC ENSG00000183117 tier1 - - 21 0 0.00 19 4 17.39 DAAM1 0 genome.wustl.edu 37 14 59792408 59792408 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 14 59792408 59792408 G T SNP DAAM1 ENST00000351081 human ensembl 74_37 +1 known missense c.1016 p.R339L 1.000 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DAAM1 HGNC ENSG00000100592 30 0 0.00 22 2 8.33 DCAF13 0 genome.wustl.edu 37 8 104438329 104438329 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 8 104438329 104438329 G T SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known missense c.880 p.G294C 0.783 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 25 0 0.00 18 2 10.00 DCLRE1C 0 genome.wustl.edu 37 10 14995953 14995953 + Silent SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 10 14995953 14995953 G A SNP DCLRE1C ENST00000378278 human ensembl 74_37 -1 known silent c.57 p.F19 1.000 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 tier1 - - 147 0 0.00 84 5 5.62 DLG1 0 genome.wustl.edu 37 3 196863514 196863514 + Missense_Mutation SNP G G C TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 3 196863514 196863514 G C SNP DLG1 ENST00000346964 human ensembl 74_37 -1 known missense c.1018 p.Q340E 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,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,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG1 HGNC ENSG00000075711 tier1 - - 32 0 0.00 17 23 57.50 DNAJC1 0 genome.wustl.edu 37 10 22209877 22209877 + Silent SNP C C A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 10 22209877 22209877 C A SNP DNAJC1 ENST00000376980 human ensembl 74_37 -1 known silent c.387 p.L129 1.000 superfamily_DnaJ_domain,pfscan_DnaJ_domain pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC1 HGNC ENSG00000136770 35 0 0.00 27 2 6.90 EIF5B 0 genome.wustl.edu 37 2 100006805 100006805 + Missense_Mutation SNP C C G TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 2 100006805 100006805 C G SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known missense c.2527 p.Q843E 1.000 superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 tier1 - - 35 0 0.00 25 14 35.90 ENPP5 0 genome.wustl.edu 37 6 46129397 46129397 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 6 46129397 46129397 G T SNP ENPP5 ENST00000230565 human ensembl 74_37 -1 known missense c.1100 p.A367D 1.000 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP5 HGNC ENSG00000112796 74 0 0.00 43 4 8.51 ENSG00000180458 0 genome.wustl.edu 37 19 38039758 38039758 + RNA SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 19 38039758 38039758 G A SNP ENSG00000180458 ENST00000316807 human ensembl 74_37 -1 known rna NULL NULL 0.035 - - - no_errors CTD-3064H18.4 Clone_based_vega_gene ENSG00000180458 tier1 - - 57 0 0.00 41 5 10.87 ENSG00000221130 0 genome.wustl.edu 37 11 88845967 88845970 + RNA DEL ATAT ATAT - TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 ATAT ATAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 11 88845967 88845970 ATAT - DEL ENSG00000221130 ENST00000408203 human ensembl 74_37 +1 novel rna NULL NULL 0.024:0.026:0.027:0.034 - - - no_errors AP001482.1 Clone_based_ensembl_gene ENSG00000221130 tier1 8 0 0.00 4 3 42.86 EPHB1 0 genome.wustl.edu 37 3 134967332 134967332 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 3 134967332 134967332 G T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.2671 p.V891L 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 57 0 0.00 77 5 6.10 ESPL1 0 genome.wustl.edu 37 12 53663505 53663505 + Missense_Mutation SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 12 53663505 53663505 G A SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.779 p.R260H 0.997 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 tier1 - - 36 0 0.00 24 5 17.24 FAM167B 0 genome.wustl.edu 37 1 32713177 32713177 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 1 32713177 32713177 G T SNP FAM167B ENST00000373582 human ensembl 74_37 +1 known missense c.155 p.S52I 1.000 NULL pfam_FAM167 - no_errors FAM167B HGNC ENSG00000183615 49 0 0.00 35 3 7.89 FBXL20 0 genome.wustl.edu 37 17 37437666 37437666 + Silent SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 17 37437666 37437666 C T SNP FBXL20 ENST00000264658 human ensembl 74_37 -1 known silent c.672 p.V224 1.000 smart_Leu-rich_rpt_Cys-con_subtyp 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 FBXL20 HGNC ENSG00000108306 tier1 - - 20 0 0.00 16 6 27.27 FBXL8 0 genome.wustl.edu 37 16 67197703 67197703 + Missense_Mutation SNP A A G TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 16 67197703 67197703 A G SNP FBXL8 ENST00000258200 human ensembl 74_37 +1 known missense c.1105 p.R369G 0.995 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXL8 HGNC ENSG00000135722 30 0 0.00 20 2 9.09 FCGR2B 0 genome.wustl.edu 37 1 161641285 161641285 + Silent SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 1 161641285 161641285 C T SNP FCGR2B ENST00000358671 human ensembl 74_37 +1 known silent c.237 p.S79 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCGR2B HGNC ENSG00000072694 tier1 - - 140 0 0.00 95 21 17.95 FMO1 0 genome.wustl.edu 37 1 171252321 171252321 + Nonsense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 1 171252321 171252321 G T SNP FMO1 ENST00000354841 human ensembl 74_37 +1 known nonsense c.1222 p.E408* 0.991 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_2 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO1 HGNC ENSG00000010932 48 0 0.00 52 3 5.45 FOXD4L5 0 genome.wustl.edu 37 9 70177178 70177178 + Missense_Mutation SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 9 70177178 70177178 C T SNP FOXD4L5 ENST00000377420 human ensembl 74_37 -1 known missense c.806 p.R269H 0.974 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L5 HGNC ENSG00000204779 tier1 - - 81 0 0.00 39 5 11.36 FUT10 0 genome.wustl.edu 37 8 33318933 33318933 + Missense_Mutation SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 8 33318933 33318933 C T SNP FUT10 ENST00000327671 human ensembl 74_37 -1 known missense c.38 p.C13Y 1.000 pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT10 HGNC ENSG00000172728 23 0 0.00 22 2 8.33 FZD1 0 genome.wustl.edu 37 7 90895458 90895459 + Frame_Shift_Ins INS - - A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 7 90895458 90895459 - A INS FZD1 ENST00000287934 human ensembl 74_37 +1 known frame_shift_ins c.1263_1264 p.I421fs 1.000:1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 tier1 82 0 0.00 43 20 31.75 FZD7 0 genome.wustl.edu 37 2 202900692 202900692 + Missense_Mutation SNP T T A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 2 202900692 202900692 T A SNP FZD7 ENST00000286201 human ensembl 74_37 +1 known missense c.1322 p.L441Q 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD7 HGNC ENSG00000155760 tier1 - - 81 0 0.00 56 10 15.15 GALNT2 0 genome.wustl.edu 37 1 230410227 230410227 + Missense_Mutation SNP A A T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 1 230410227 230410227 A T SNP GALNT2 ENST00000366672 human ensembl 74_37 +1 known missense c.1477 p.M493L 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT2 HGNC ENSG00000143641 tier1 - - 74 0 0.00 67 12 15.19 GOLGA8T 0 genome.wustl.edu 37 15 30437064 30437064 + Missense_Mutation SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 15 30437064 30437064 G A SNP GOLGA8T ENST00000569052 human ensembl 74_37 +1 novel missense c.1451 p.R484Q 1.000 NULL NULL - no_errors GOLGA8T HGNC ENSG00000261247 tier1 - - 140 0 0.00 60 15 20.00 GOLPH3 0 genome.wustl.edu 37 5 32143866 32143866 + Silent SNP A A G TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 5 32143866 32143866 A G SNP GOLPH3 ENST00000265070 human ensembl 74_37 -1 known silent c.346 p.L116 0.990 pfam_GPP34 pfam_GPP34 - no_errors GOLPH3 HGNC ENSG00000113384 tier1 - - 38 0 0.00 42 6 12.50 GPATCH8 0 genome.wustl.edu 37 17 42552208 42552208 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 17 42552208 42552208 G T SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.109 p.P37T 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 tier1 - - 54 0 0.00 44 4 8.33 GPI 0 genome.wustl.edu 37 19 34890655 34890655 + Silent SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 19 34890655 34890655 C T SNP GPI ENST00000415930 human ensembl 74_37 +1 known silent c.1539 p.G513 0.900 pfam_G6P_Isomerase,prints_G6P_Isomerase pfam_G6P_Isomerase,prints_G6P_Isomerase - no_errors GPI HGNC ENSG00000105220 tier1 - - 85 0 0.00 59 25 29.76 IGLL5 0 genome.wustl.edu 37 22 23235889 23235889 + Silent SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 22 23235889 23235889 C T SNP IGLL5 ENST00000532223 human ensembl 74_37 +1 known silent c.219 p.L73 0.000 NULL pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors IGLL5 HGNC ENSG00000254709 tier1 - - 50 0 0.00 46 8 14.81 IQCE 0 genome.wustl.edu 37 7 2645633 2645633 + Splice_Site SNP T T C TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 7 2645633 2645633 T C SNP IQCE ENST00000402050 human ensembl 74_37 +1 known splice_site c.1865+2 e20+2 0.672 - - - no_errors IQCE HGNC ENSG00000106012 tier1 - - 143 0 0.00 93 15 13.89 IRGQ 0 genome.wustl.edu 37 19 44097061 44097061 + Missense_Mutation SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 19 44097061 44097061 C T SNP IRGQ ENST00000422989 human ensembl 74_37 -1 known missense c.989 p.R330H 1.000 NULL superfamily_P-loop_NTPase - no_errors IRGQ HGNC ENSG00000167378 tier1 - - 58 0 0.00 36 12 25.00 ITFG1 0 genome.wustl.edu 37 16 47345168 47345168 + Silent SNP T T C TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 16 47345168 47345168 T C SNP ITFG1 ENST00000320640 human ensembl 74_37 -1 known silent c.1053 p.L351 0.988 NULL NULL - no_errors ITFG1 HGNC ENSG00000129636 tier1 - - 44 0 0.00 23 21 47.73 KDM1B 0 genome.wustl.edu 37 6 18215356 18215357 + Frame_Shift_Ins INS - - GC TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 6 18215356 18215357 - GC INS KDM1B ENST00000388870 human ensembl 74_37 +1 known frame_shift_ins c.2231_2232 p.Q745fs 1.000:1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW - no_errors KDM1B HGNC ENSG00000165097 tier1 41 0 0.00 19 12 38.71 KIDINS220 0 genome.wustl.edu 37 2 8946498 8946498 + Missense_Mutation SNP T T C TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 2 8946498 8946498 T C SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known missense c.506 p.Y169C 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 38 0 0.00 30 4 11.76 KIF2A 0 genome.wustl.edu 37 5 61661149 61661149 + Missense_Mutation SNP C C G TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 5 61661149 61661149 C G SNP KIF2A ENST00000407818 human ensembl 74_37 +1 known missense c.1547 p.S516C 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2A HGNC ENSG00000068796 tier1 - - 31 0 0.00 78 6 7.14 KLRK1 0 genome.wustl.edu 37 12 10530782 10530782 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 12 10530782 10530782 G T SNP KLRK1 ENST00000240618 human ensembl 74_37 -1 known missense c.482 p.P161Q 0.006 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors KLRK1 HGNC ENSG00000213809 tier1 - - 50 0 0.00 29 32 52.46 KPNB1 0 genome.wustl.edu 37 17 45750492 45750492 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 17 45750492 45750492 G T SNP KPNB1 ENST00000290158 human ensembl 74_37 +1 known missense c.1656 p.L552F 0.952 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors KPNB1 HGNC ENSG00000108424 tier1 - - 57 0 0.00 55 5 8.33 KRTAP5-3 0 genome.wustl.edu 37 11 1628947 1628947 + Silent SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 11 1628947 1628947 G A SNP KRTAP5-3 ENST00000399685 human ensembl 74_37 -1 known silent c.669 p.S223 0.962 NULL NULL - no_errors KRTAP5-3 HGNC ENSG00000196224 tier1 - - 231 0 0.00 66 15 18.52 KRTAP5-3 0 genome.wustl.edu 37 11 1628948 1628948 + Missense_Mutation SNP G G C TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 11 1628948 1628948 G C SNP KRTAP5-3 ENST00000399685 human ensembl 74_37 -1 known missense c.668 p.S223C 1.000 NULL NULL - no_errors KRTAP5-3 HGNC ENSG00000196224 tier1 - - 230 0 0.00 66 15 18.52 KRTAP5-3 0 genome.wustl.edu 37 11 1628956 1628956 + Silent SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 11 1628956 1628956 C T SNP KRTAP5-3 ENST00000399685 human ensembl 74_37 -1 known silent c.660 p.K220 0.815 NULL NULL - no_errors KRTAP5-3 HGNC ENSG00000196224 250 0 0.00 66 14 17.50 LAPTM4B 0 genome.wustl.edu 37 8 98837299 98837299 + Missense_Mutation SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 8 98837299 98837299 G A SNP LAPTM4B ENST00000445593 human ensembl 74_37 +1 known missense c.794 p.S265N 1.000 pfam_LAPTM4/5 pfam_LAPTM4/5 - no_errors LAPTM4B HGNC ENSG00000104341 tier1 - - 55 0 0.00 36 14 28.00 LCA5 0 genome.wustl.edu 37 6 80196741 80196741 + Missense_Mutation SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 6 80196741 80196741 C T SNP LCA5 ENST00000369846 human ensembl 74_37 -1 known missense c.2074 p.E692K 1.000 NULL NULL - no_errors LCA5 HGNC ENSG00000135338 tier1 - - 57 0 0.00 36 24 40.00 LILRA3 0 genome.wustl.edu 37 19 54802107 54802107 + Missense_Mutation SNP C C A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 19 54802107 54802107 C A SNP LILRA3 ENST00000251390 human ensembl 74_37 -1 known missense c.1081 p.G361W 0.002 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA3 HGNC ENSG00000170866 tier1 - - 153 0 0.00 77 7 8.33 LOC100128006 0 genome.wustl.edu 37 17 12663922 12663922 + RNA SNP A A G TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 17 12663922 12663922 A G SNP LOC100128006 ENST00000584772 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-1090M7.1 Clone_based_vega_gene ENSG00000265489 tier1 - - 63 0 0.00 16 25 60.98 LOC101930578 0 genome.wustl.edu 37 13 52864053 52864053 + RNA SNP T T A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 13 52864053 52864053 T A SNP LOC101930578 ENST00000451298 human ensembl 74_37 -1 known rna NULL NULL 0.088 - - - no_errors RP11-248G5.8 Clone_based_vega_gene ENSG00000217576 tier1 - - 69 0 0.00 95 7 6.86 LRIT1 0 genome.wustl.edu 37 10 85992483 85992483 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 10 85992483 85992483 G T SNP LRIT1 ENST00000372105 human ensembl 74_37 -1 known missense c.1072 p.P358T 0.091 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRIT1 HGNC ENSG00000148602 tier1 - - 29 0 0.00 13 3 18.75 LRPPRC 0 genome.wustl.edu 37 2 44177716 44177716 + Missense_Mutation SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 2 44177716 44177716 C T SNP LRPPRC ENST00000260665 human ensembl 74_37 -1 known missense c.1673 p.S558N 1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 62 0 0.00 77 5 6.10 LUM 0 genome.wustl.edu 37 12 91502642 91502642 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 12 91502642 91502642 G T SNP LUM ENST00000266718 human ensembl 74_37 -1 known missense c.115 p.P39T 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LUM HGNC ENSG00000139329 58 0 0.00 67 4 5.63 LYPD6 0 genome.wustl.edu 37 2 150325190 150325190 + Missense_Mutation SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 2 150325190 150325190 G A SNP LYPD6 ENST00000334166 human ensembl 74_37 +1 known missense c.249 p.M83I 1.000 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors LYPD6 HGNC ENSG00000187123 tier1 - - 37 0 0.00 21 12 36.36 MAN2C1 0 genome.wustl.edu 37 15 75656447 75656447 + Missense_Mutation SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 15 75656447 75656447 G A SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known missense c.683 p.P228L 0.999 NULL pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 tier1 - - 66 0 0.00 43 8 15.69 MAP1B 0 genome.wustl.edu 37 5 71492144 71492144 + Missense_Mutation SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 5 71492144 71492144 G A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.2962 p.E988K 0.613 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 25 0 0.00 22 2 8.33 MED12L 0 genome.wustl.edu 37 3 151102876 151102876 + Missense_Mutation SNP T T C TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 3 151102876 151102876 T C SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.4880 p.L1627S 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 - - 44 0 0.00 44 6 12.00 MED15 0 genome.wustl.edu 37 22 20909285 20909285 + Missense_Mutation SNP A A G TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 22 20909285 20909285 A G SNP MED15 ENST00000263205 human ensembl 74_37 +1 known missense c.301 p.M101V 0.995 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 82 0 0.00 58 5 7.94 MEF2C 0 genome.wustl.edu 37 5 88027681 88027681 + Silent SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 5 88027681 88027681 C T SNP MEF2C ENST00000437473 human ensembl 74_37 -1 known silent c.675 p.L225 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox - no_errors MEF2C HGNC ENSG00000081189 tier1 - - 62 0 0.00 54 12 18.18 MEF2D 0 genome.wustl.edu 37 1 156438655 156438655 + Missense_Mutation SNP C C A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 1 156438655 156438655 C A SNP MEF2D ENST00000348159 human ensembl 74_37 -1 known missense c.1164 p.Q388H 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2D HGNC ENSG00000116604 tier1 - - 173 0 0.00 111 12 9.76 MIR624 0 genome.wustl.edu 37 14 31483858 31483858 + RNA SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 14 31483858 31483858 G T SNP MIR624 ENST00000385217 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MIR624 HGNC ENSG00000207952 tier1 - - 98 0 0.00 56 4 6.67 MT-CO1 0 genome.wustl.edu 37 MT 6292 6292 + Missense_Mutation SNP C C A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 MT 6292 6292 C A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.389 p.P130H NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 154 0 0.00 10 2 16.67 MT-ND5 0 genome.wustl.edu 37 MT 13937 13937 + Missense_Mutation SNP A A T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 MT 13937 13937 A T SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1601 p.H534L NULL pfam_NADH_DH_su5_C 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 - - 187 0 0.00 10 2 16.67 NAA30 0 genome.wustl.edu 37 14 57866569 57866569 + Missense_Mutation SNP A A G TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 14 57866569 57866569 A G SNP NAA30 ENST00000556492 human ensembl 74_37 +1 known missense c.919 p.I307V 1.000 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA30 HGNC ENSG00000139977 tier1 - - 52 0 0.00 25 12 32.43 NBEAL1 0 genome.wustl.edu 37 2 204016238 204016238 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 2 204016238 204016238 G T SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known missense c.5426 p.R1809L 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 52 0 0.00 28 2 6.67 NCOA7 0 genome.wustl.edu 37 6 126136442 126136442 + RNA SNP C C A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 6 126136442 126136442 C A SNP NCOA7 ENST00000487635 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NCOA7 HGNC ENSG00000111912 tier1 - - 49 0 0.00 47 4 7.84 NDFIP2 0 genome.wustl.edu 37 13 80117762 80117762 + Missense_Mutation SNP A A G TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 13 80117762 80117762 A G SNP NDFIP2 ENST00000218652 human ensembl 74_37 +1 known missense c.785 p.Y262C 1.000 pfam_NEDD4/BSD2 pfam_NEDD4/BSD2 - no_errors NDFIP2 HGNC ENSG00000102471 tier1 - - 79 0 0.00 62 23 27.06 NGF 0 genome.wustl.edu 37 1 115828865 115828865 + Silent SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 1 115828865 115828865 G A SNP NGF ENST00000369512 human ensembl 74_37 -1 known silent c.552 p.P184 0.841 pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel - no_errors NGF HGNC ENSG00000134259 tier1 - - 54 0 0.00 27 4 12.90 NOTCH3 0 genome.wustl.edu 37 19 15292541 15292541 + Missense_Mutation SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 19 15292541 15292541 C T SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.2638 p.A880T 0.203 pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,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_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 - - 166 0 0.00 117 9 7.14 OR10A5 0 genome.wustl.edu 37 11 6867223 6867225 + In_Frame_Del DEL TTC TTC - TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 11 6867223 6867225 TTC - DEL OR10A5 ENST00000379831 human ensembl 74_37 +1 known in_frame_del c.322_324 p.F111in_frame_del 0.999:1.000:0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A5 HGNC ENSG00000166363 tier1 51 0 0.00 42 3 6.67 OR10Z1 0 genome.wustl.edu 37 1 158577071 158577071 + Silent SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 1 158577071 158577071 G A SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known silent c.843 p.V281 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 tier1 - - 55 0 0.00 48 9 15.79 OSGIN1 0 genome.wustl.edu 37 16 83992949 83992949 + Missense_Mutation SNP C C A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 16 83992949 83992949 C A SNP OSGIN1 ENST00000361711 human ensembl 74_37 +1 known missense c.152 p.P51H 0.986 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors OSGIN1 HGNC ENSG00000140961 18 0 0.00 21 4 16.00 OTUD6B 0 genome.wustl.edu 37 8 92090650 92090650 + Missense_Mutation SNP A A G TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 8 92090650 92090650 A G SNP OTUD6B ENST00000285420 human ensembl 74_37 +1 known missense c.472 p.T158A 0.575 NULL pfam_OTU,pfam_Peptidase_C65_otubain,pfscan_OTU - no_errors OTUD6B HGNC ENSG00000155100 tier1 - - 37 0 0.00 16 7 30.43 PARP4 0 genome.wustl.edu 37 13 25023941 25023941 + Missense_Mutation SNP C C A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 13 25023941 25023941 C A SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known missense c.3029 p.R1010L 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 37 0 0.00 38 2 5.00 PCDHA6 0 genome.wustl.edu 37 5 140209869 140209869 + Silent SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 5 140209869 140209869 G A SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known silent c.2193 p.A731 0.049 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 tier1 - - 87 0 0.00 38 9 19.15 PDCD11 0 genome.wustl.edu 37 10 105204417 105204417 + Missense_Mutation SNP C C A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 10 105204417 105204417 C A SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.5422 p.H1808N 1.000 pfam_Suf pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 tier1 - - 36 0 0.00 18 12 40.00 PIGR 0 genome.wustl.edu 37 1 207109009 207109009 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 1 207109009 207109009 G T SNP PIGR ENST00000356495 human ensembl 74_37 -1 known missense c.1200 p.D400E 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PIGR HGNC ENSG00000162896 tier1 - - 73 0 0.00 70 17 19.54 PISD 0 genome.wustl.edu 37 22 32019717 32019717 + Missense_Mutation SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 22 32019717 32019717 C T SNP PISD ENST00000266095 human ensembl 74_37 -1 known missense c.172 p.G58S 1.000 NULL pfam_PS_Dcarbxylase,tigrfam_PS_decarb - no_errors PISD HGNC ENSG00000241878 75 0 0.00 38 2 5.00 PLG 0 genome.wustl.edu 37 6 161134305 161134306 + RNA INS - - T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 6 161134305 161134306 - T INS PLG ENST00000462918 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.003 - - - no_errors PLG HGNC ENSG00000122194 tier1 9 0 0.00 12 6 33.33 PRLR 0 genome.wustl.edu 37 5 35072680 35072680 + Nonsense_Mutation SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 5 35072680 35072680 C T SNP PRLR ENST00000382002 human ensembl 74_37 -1 known nonsense c.540 p.W180* 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PRLR HGNC ENSG00000113494 tier1 - - 32 0 0.00 39 16 29.09 PROCR 0 genome.wustl.edu 37 20 33764528 33764528 + Missense_Mutation SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 20 33764528 33764528 C T SNP PROCR ENST00000216968 human ensembl 74_37 +1 known missense c.629 p.S210L 0.668 NULL pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors PROCR HGNC ENSG00000101000 46 0 0.00 57 3 5.00 PROKR2 0 genome.wustl.edu 37 20 5282783 5282783 + Missense_Mutation SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 20 5282783 5282783 C T SNP PROKR2 ENST00000217270 human ensembl 74_37 -1 known missense c.1058 p.R353H 0.996 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 tier1 - - 67 0 0.00 59 23 28.05 PRSS42 0 genome.wustl.edu 37 3 46875457 46875457 + Silent SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 3 46875457 46875457 G A SNP PRSS42 ENST00000429665 human ensembl 74_37 -1 known silent c.129 p.G43 0.000 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS42 HGNC ENSG00000178055 tier1 - - 80 0 0.00 60 5 7.69 PSMC4 0 genome.wustl.edu 37 19 40480482 40480482 + Missense_Mutation SNP A A T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 19 40480482 40480482 A T SNP PSMC4 ENST00000157812 human ensembl 74_37 +1 known missense c.521 p.K174M 0.990 superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC4 HGNC ENSG00000013275 tier1 - - 18 0 0.00 13 5 27.78 PTPRF 0 genome.wustl.edu 37 1 44086782 44086782 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 1 44086782 44086782 G T SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.5534 p.R1845L 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 73 0 0.00 26 2 7.14 RABL6 0 genome.wustl.edu 37 9 139733890 139733891 + Frame_Shift_Ins INS - - T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 9 139733890 139733891 - T INS RABL6 ENST00000371663 human ensembl 74_37 +1 known frame_shift_ins c.1713_1714 p.D571fs 1.000:1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC ENSG00000196642 tier1 105 0 0.00 43 8 15.69 RADIL 0 genome.wustl.edu 37 7 4917679 4917679 + Missense_Mutation SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 7 4917679 4917679 G A SNP RADIL ENST00000399583 human ensembl 74_37 -1 known missense c.92 p.T31M 0.965 NULL pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 tier1 - - 51 0 0.00 27 10 26.32 REV1 0 genome.wustl.edu 37 2 100019518 100019518 + Missense_Mutation SNP C C G TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 2 100019518 100019518 C G SNP REV1 ENST00000258428 human ensembl 74_37 -1 known missense c.3218 p.R1073T 0.311 pirsf_REV1 pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 31 0 0.00 34 2 5.56 RHBDD3 0 genome.wustl.edu 37 22 29661510 29661510 + Missense_Mutation SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 22 29661510 29661510 C T SNP RHBDD3 ENST00000216085 human ensembl 74_37 -1 known missense c.106 p.G36S 1.000 NULL pfam_Peptidase_S54_rhomboid_dom,superfamily_UBA-like - no_errors RHBDD3 HGNC ENSG00000100263 tier1 - - 51 0 0.00 45 7 13.46 RRP12 0 genome.wustl.edu 37 10 99160097 99160097 + Missense_Mutation SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 10 99160097 99160097 G A SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known missense c.334 p.R112C 1.000 superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 tier1 - - 35 0 0.00 31 4 11.43 SBSN 0 genome.wustl.edu 37 19 36018103 36018103 + Missense_Mutation SNP A A C TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 19 36018103 36018103 A C SNP SBSN ENST00000452271 human ensembl 74_37 -1 novel missense c.1081 p.F361V 0.001 NULL NULL - no_errors SBSN HGNC ENSG00000189001 113 0 0.00 90 5 5.26 SDAD1 0 genome.wustl.edu 37 4 76902592 76902592 + Missense_Mutation SNP T T C TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 4 76902592 76902592 T C SNP SDAD1 ENST00000356260 human ensembl 74_37 -1 known missense c.227 p.N76S 0.994 pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold pfam_SDA1_dom,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold - no_errors SDAD1 HGNC ENSG00000198301 tier1 - - 33 0 0.00 27 11 28.95 SDF2 0 genome.wustl.edu 37 17 26976284 26976284 + Missense_Mutation SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 17 26976284 26976284 G A SNP SDF2 ENST00000247020 human ensembl 74_37 -1 known missense c.359 p.A120V 1.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors SDF2 HGNC ENSG00000132581 tier1 - - 53 0 0.00 51 5 8.93 SEH1L 0 genome.wustl.edu 37 18 12955467 12955467 + Silent SNP T T C TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 18 12955467 12955467 T C SNP SEH1L ENST00000399892 human ensembl 74_37 +1 known silent c.168 p.H56 0.994 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SEH1L HGNC ENSG00000085415 tier1 rs144783239 - 57 0 0.00 58 4 6.45 SEMA3A 0 genome.wustl.edu 37 7 83675741 83675741 + Missense_Mutation SNP C C A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 7 83675741 83675741 C A SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known missense c.566 p.G189V 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 tier1 - - 29 0 0.00 39 8 17.02 SENP2 0 genome.wustl.edu 37 3 185347597 185347597 + Missense_Mutation SNP A A T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 3 185347597 185347597 A T SNP SENP2 ENST00000296257 human ensembl 74_37 +1 known missense c.1735 p.M579L 1.000 pfam_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP2 HGNC ENSG00000163904 tier1 - - 34 0 0.00 64 11 14.67 SGK223 0 genome.wustl.edu 37 8 8185259 8185259 + Nonsense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 8 8185259 8185259 G T SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known nonsense c.3033 p.C1011* 1.000 smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 tier1 - - 49 0 0.00 29 8 21.62 SH3RF1 0 genome.wustl.edu 37 4 170077752 170077752 + Missense_Mutation SNP C C A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 4 170077752 170077752 C A SNP SH3RF1 ENST00000284637 human ensembl 74_37 -1 known missense c.472 p.G158C 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC ENSG00000154447 45 0 0.00 36 3 7.69 SIGLEC10 0 genome.wustl.edu 37 19 51918195 51918195 + Missense_Mutation SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 19 51918195 51918195 C T SNP SIGLEC10 ENST00000339313 human ensembl 74_37 -1 known missense c.1498 p.G500R 0.728 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC10 HGNC ENSG00000142512 tier1 - - 109 0 0.00 43 10 18.52 SLC52A2 0 genome.wustl.edu 37 8 145584272 145584272 + Missense_Mutation SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 8 145584272 145584272 C T SNP SLC52A2 ENST00000329994 human ensembl 74_37 +1 known missense c.1024 p.L342F 0.003 pfam_Endogenous_retrovirus_rcpt pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A2 HGNC ENSG00000185803 tier1 - - 44 0 0.00 24 10 29.41 SNW1 0 genome.wustl.edu 37 14 78198839 78198840 + Frame_Shift_Ins INS - - A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 14 78198839 78198840 - A INS SNW1 ENST00000261531 human ensembl 74_37 -1 known frame_shift_ins c.880_879 p.A293fs 1.000:0.998 pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC ENSG00000100603 tier1 29 0 0.00 24 5 17.24 SNX13 0 genome.wustl.edu 37 7 17833516 17833516 + RNA SNP G G C TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 7 17833516 17833516 G C SNP SNX13 ENST00000496855 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SNX13 HGNC ENSG00000071189 tier1 - - 12 0 0.00 7 5 41.67 SNX13 0 genome.wustl.edu 37 7 17833695 17833695 + Missense_Mutation SNP G G C TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 7 17833695 17833695 G C SNP SNX13 ENST00000428135 human ensembl 74_37 -1 known missense c.2848 p.Q950E 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX13 HGNC ENSG00000071189 tier1 - - 47 0 0.00 29 13 30.95 SP110 0 genome.wustl.edu 37 2 231065665 231065665 + Silent SNP A A G TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 2 231065665 231065665 A G SNP SP110 ENST00000258381 human ensembl 74_37 -1 known silent c.1065 p.T355 0.021 NULL pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP110 HGNC ENSG00000135899 tier1 - - 69 0 0.00 37 7 15.91 SQSTM1 0 genome.wustl.edu 37 5 179260710 179260710 + Missense_Mutation SNP A A T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 5 179260710 179260710 A T SNP SQSTM1 ENST00000389805 human ensembl 74_37 +1 known missense c.1093 p.S365C 0.898 NULL pfam_Znf_ZZ,pfam_OPR_PB1,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors SQSTM1 HGNC ENSG00000161011 23 0 0.00 23 3 11.54 SRGAP1 0 genome.wustl.edu 37 12 64536104 64536104 + Silent SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 12 64536104 64536104 G A SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known silent c.2910 p.L970 1.000 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 tier1 - - 19 0 0.00 20 5 20.00 STAT4 0 genome.wustl.edu 37 2 191919261 191919261 + Splice_Site SNP C C A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 2 191919261 191919261 C A SNP STAT4 ENST00000358470 human ensembl 74_37 -1 known splice_site c.1207-1 e13-1 1.000 - - - no_errors STAT4 HGNC ENSG00000138378 35 0 0.00 33 2 5.71 SUFU 0 genome.wustl.edu 37 10 104386980 104386980 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 10 104386980 104386980 G T SNP SUFU ENST00000369902 human ensembl 74_37 +1 known missense c.1345 p.D449Y 1.000 pfam_SUFU_C,pirsf_Suppressor_of_fused_euk pfam_SUFU_C,pfam_SUFU-like_domain,pirsf_Suppressor_of_fused_euk - no_errors SUFU HGNC ENSG00000107882 20 0 0.00 25 4 13.79 SUPT5H 0 genome.wustl.edu 37 19 39959492 39959492 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 19 39959492 39959492 G T SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known missense c.1134 p.M378I 1.000 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 tier1 - - 24 0 0.00 10 5 33.33 SYNPO2L 0 genome.wustl.edu 37 10 75413174 75413174 + Silent SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 10 75413174 75413174 G A SNP SYNPO2L ENST00000394810 human ensembl 74_37 -1 known silent c.495 p.P165 0.103 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 tier1 - - 57 0 0.00 30 19 38.78 SYTL2 0 genome.wustl.edu 37 11 85406271 85406271 + Silent SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 11 85406271 85406271 G T SNP SYTL2 ENST00000359152 human ensembl 74_37 -1 known silent c.5310 p.L1770 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 22 0 0.00 18 3 14.29 TCERG1 0 genome.wustl.edu 37 5 145834757 145834757 + Silent SNP C C G TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 5 145834757 145834757 C G SNP TCERG1 ENST00000296702 human ensembl 74_37 +1 known silent c.198 p.P66 0.907 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 tier1 - - 58 0 0.00 42 6 12.50 TEKT4P2 0 genome.wustl.edu 37 21 9907383 9907383 + RNA SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 21 9907383 9907383 C T SNP TEKT4P2 ENST00000416067 human ensembl 74_37 -1 known rna NULL NULL 0.899 - - - no_errors TEKT4P2 HGNC ENSG00000188681 tier1 - - 187 0 0.00 77 9 10.47 TFAP2A 0 genome.wustl.edu 37 6 10402728 10402728 + Nonsense_Mutation SNP C C A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 6 10402728 10402728 C A SNP TFAP2A ENST00000379604 human ensembl 74_37 -1 known nonsense c.880 p.E294* 1.000 pfam_TF_AP2_C,prints_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC ENSG00000137203 tier1 - - 42 0 0.00 26 20 43.48 THADA 0 genome.wustl.edu 37 2 43818024 43818024 + Missense_Mutation SNP T T C TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 2 43818024 43818024 T C SNP THADA ENST00000405006 human ensembl 74_37 -1 known missense c.241 p.I81V 0.999 NULL pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 tier1 - - 50 0 0.00 41 32 43.84 TMIGD1 0 genome.wustl.edu 37 17 28645840 28645840 + Missense_Mutation SNP C C G TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 17 28645840 28645840 C G SNP TMIGD1 ENST00000328886 human ensembl 74_37 -1 known missense c.732 p.K244N 0.019 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TMIGD1 HGNC ENSG00000182271 25 0 0.00 34 2 5.56 TP53 0 genome.wustl.edu 37 17 7578526 7578527 + Frame_Shift_Ins INS - - A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 17 7578526 7578527 - A INS TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_ins c.404_403 p.C135fs 1.000:1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 40 0 0.00 18 17 48.57 TRPM6 0 genome.wustl.edu 37 9 77377816 77377816 + Silent SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 9 77377816 77377816 G A SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known silent c.3771 p.I1257 0.024 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 tier1 - - 42 0 0.00 20 12 37.50 TUSC5 0 genome.wustl.edu 37 17 1198846 1198846 + Missense_Mutation SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 17 1198846 1198846 G A SNP TUSC5 ENST00000333813 human ensembl 74_37 +1 known missense c.449 p.R150Q 0.924 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors TUSC5 HGNC ENSG00000184811 tier1 - - 57 0 0.00 53 8 12.90 ZNF177 0 genome.wustl.edu 37 19 9492426 9492426 + Silent SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 19 9492426 9492426 C T SNP ZNF177 ENST00000434737 human ensembl 74_37 +1 known silent c.1419 p.I473 0.039 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 ZNF177 HGNC ENSG00000188629 tier1 - - 12 0 0.00 11 4 26.67 ZNF185 0 genome.wustl.edu 37 X 152101493 152101493 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 X 152101493 152101493 G T SNP ZNF185 ENST00000370270 human ensembl 74_37 +1 known missense c.1096 p.D366Y 0.010 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 tier1 - - 35 0 0.00 19 17 47.22 ZNF229 0 genome.wustl.edu 37 19 44946800 44946800 + Missense_Mutation SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 19 44946800 44946800 G A SNP ZNF229 ENST00000588931 human ensembl 74_37 -1 known missense c.40 p.H14Y 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF229 HGNC ENSG00000167383 tier1 - - 75 0 0.00 49 15 23.44 ZNF354C 0 genome.wustl.edu 37 5 178506536 178506536 + Missense_Mutation SNP T T C TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 5 178506536 178506536 T C SNP ZNF354C ENST00000315475 human ensembl 74_37 +1 known missense c.1103 p.F368S 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 ZNF354C HGNC ENSG00000177932 23 0 0.00 42 4 8.70 ZNF562 0 genome.wustl.edu 37 19 9763776 9763776 + Missense_Mutation SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 19 9763776 9763776 C T SNP ZNF562 ENST00000448622 human ensembl 74_37 -1 known missense c.1130 p.C377Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF562 HGNC ENSG00000171466 tier1 - - 75 0 0.00 53 4 7.02 ZNF606 0 genome.wustl.edu 37 19 58491630 58491630 + Nonsense_Mutation SNP C C A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 19 58491630 58491630 C A SNP ZNF606 ENST00000341164 human ensembl 74_37 -1 known nonsense c.418 p.E140* 0.956 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF606 HGNC ENSG00000166704 tier1 - - 40 0 0.00 47 8 14.55 ZNF638 0 genome.wustl.edu 37 2 71653884 71653884 + Missense_Mutation SNP G G A TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 2 71653884 71653884 G A SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known missense c.4885 p.E1629K 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 tier1 - - 18 0 0.00 13 9 40.91 ZNF710 0 genome.wustl.edu 37 15 90623058 90623058 + Silent SNP A A G TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 15 90623058 90623058 A G SNP ZNF710 ENST00000268154 human ensembl 74_37 +1 known silent c.1992 p.L664 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 26 0 0.00 23 3 11.54 ZNF766 0 genome.wustl.edu 37 19 52794164 52794164 + Nonsense_Mutation SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 19 52794164 52794164 C T SNP ZNF766 ENST00000359102 human ensembl 74_37 +1 known nonsense c.1165 p.Q389* 0.007 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF766 HGNC ENSG00000196214 tier1 - - 22 0 0.00 23 4 14.81 ZNF793 0 genome.wustl.edu 37 19 38023343 38023343 + Missense_Mutation SNP G G T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 19 38023343 38023343 G T SNP ZNF793 ENST00000445217 human ensembl 74_37 +1 known missense c.101 p.R34L 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF793 HGNC ENSG00000188227 tier1 - - 69 0 0.00 55 4 6.78 ZNF831 0 genome.wustl.edu 37 20 57768323 57768323 + Missense_Mutation SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67ae007e-a5ef-4d44-8c27-2a0991f44b4d 0af35cb6-de6b-423a-80b8-7e2d4c8bac64 20 57768323 57768323 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.2249 p.S750F 0.979 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 61 0 0.00 34 5 12.82