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 ABCA1 0 genome.wustl.edu 37 9 107555517 107555517 + Silent SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 9 107555517 107555517 G A SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known silent c.5571 p.A1857 0.016 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 tier1 - - 91 0 0.00 8 38 82.61 ACSBG1 0 genome.wustl.edu 37 15 78475123 78475123 + Nonsense_Mutation SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 15 78475123 78475123 C A SNP ACSBG1 ENST00000560124 human ensembl 74_37 -1 known nonsense c.136 p.G46* 1.000 NULL NULL - no_errors ACSBG1 HGNC ENSG00000103740 30 0 0.00 46 3 6.00 ACSS3 0 genome.wustl.edu 37 12 81537017 81537017 + Silent SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 12 81537017 81537017 G A SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known silent c.912 p.G304 0.001 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 tier1 - - 44 0 0.00 36 34 48.57 ADAMTS2 0 genome.wustl.edu 37 5 178555035 178555035 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 5 178555035 178555035 C T SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known missense c.2542 p.V848I 0.987 superfamily_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 tier1 - - 46 0 0.00 22 25 53.19 ADAMTS9 0 genome.wustl.edu 37 3 64524929 64524929 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 3 64524929 64524929 C T SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.5563 p.V1855I 1.000 pfam_Pept_M12B_GON-ADAMTSs,pfscan_Pept_M12B_GON-ADAMTSs pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 tier1 - - 67 0 0.00 59 4 6.35 ADCY3 0 genome.wustl.edu 37 2 25141367 25141367 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 2 25141367 25141367 C T SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known missense c.490 p.A164T 0.998 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 tier1 - - 46 0 0.00 65 7 9.59 ADNP 0 genome.wustl.edu 37 20 49509654 49509654 + Missense_Mutation SNP T T A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 20 49509654 49509654 T A SNP ADNP ENST00000349014 human ensembl 74_37 -1 known missense c.1597 p.M533L 0.995 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 tier1 - - 27 0 0.00 43 22 32.84 AHNAK2 0 genome.wustl.edu 37 14 105406677 105406677 + Silent SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 14 105406677 105406677 C A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.15111 p.G5037 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 71 0 0.00 71 4 5.26 AIG1 0 genome.wustl.edu 37 6 143382095 143382095 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 6 143382095 143382095 G T SNP AIG1 ENST00000275235 human ensembl 74_37 +1 known missense c.33 p.M11I 0.944 NULL pfam_Far-17a_AIG1 - no_errors AIG1 HGNC ENSG00000146416 tier1 - - 23 0 0.00 26 22 45.83 ALDH4A1 0 genome.wustl.edu 37 1 19199390 19199390 + Silent SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 1 19199390 19199390 G T SNP ALDH4A1 ENST00000290597 human ensembl 74_37 -1 known silent c.1641 p.I547 1.000 superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH - no_errors ALDH4A1 HGNC ENSG00000159423 tier1 - - 44 0 0.00 42 4 8.70 ALKBH3 0 genome.wustl.edu 37 11 43911359 43911359 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 11 43911359 43911359 G T SNP ALKBH3 ENST00000302708 human ensembl 74_37 +1 known missense c.351 p.Q117H 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH3 HGNC ENSG00000166199 tier1 - - 41 0 0.00 47 4 7.84 AMFR 0 genome.wustl.edu 37 16 56397878 56397878 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 16 56397878 56397878 C T SNP AMFR ENST00000290649 human ensembl 74_37 -1 known missense c.1739 p.R580H 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 31 0 0.00 52 3 5.45 AMZ2P1 0 genome.wustl.edu 37 17 62971127 62971127 + RNA SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 17 62971127 62971127 G T SNP AMZ2P1 ENST00000397713 human ensembl 74_37 -1 known rna NULL NULL 0.019 - - - no_errors AMZ2P1 HGNC ENSG00000214174 tier1 - - 47 0 0.00 68 4 5.56 ARC 0 genome.wustl.edu 37 8 143694754 143694754 + Missense_Mutation SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 8 143694754 143694754 C A SNP ARC ENST00000356613 human ensembl 74_37 -1 known missense c.879 p.K293N 1.000 NULL prints_Activity-reg_cytoskelet-assoc - no_errors ARC HGNC ENSG00000198576 tier1 - - 60 0 0.00 50 22 30.56 ARHGAP5 0 genome.wustl.edu 37 14 32561313 32561313 + Nonsense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 14 32561313 32561313 C T SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known nonsense c.1438 p.R480* 1.000 superfamily_FF_domain,smart_FF_domain 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 rs201986816 - 93 0 0.00 64 11 14.67 ARL8B 0 genome.wustl.edu 37 3 5164159 5164159 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 3 5164159 5164159 G T SNP ARL8B ENST00000455168 human ensembl 74_37 +1 known missense c.181 p.A61S 1.000 NULL NULL - no_errors ARL8B HGNC ENSG00000134108 tier1 - - 35 0 0.00 61 5 7.58 ARPP19 0 genome.wustl.edu 37 15 52844185 52844185 + Silent SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 15 52844185 52844185 C A SNP ARPP19 ENST00000249822 human ensembl 74_37 -1 known silent c.285 p.P95 0.994 NULL pfam_Endosulphine - no_errors ARPP19 HGNC ENSG00000128989 tier1 - - 54 0 0.00 65 4 5.80 ASCC1 0 genome.wustl.edu 37 10 73862091 73862091 + Splice_Site SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 10 73862091 73862091 C A SNP ASCC1 ENST00000342444 human ensembl 74_37 -1 known splice_site c.1203+1 e11+1 0.000 - - - no_errors ASCC1 HGNC ENSG00000138303 tier1 - - 74 0 0.00 65 24 26.97 ATP8B1 0 genome.wustl.edu 37 18 55371829 55371829 + Missense_Mutation SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 18 55371829 55371829 C A SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known missense c.351 p.K117N 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 ATP8B1 HGNC ENSG00000081923 tier1 - - 60 0 0.00 43 4 8.51 BCHE 0 genome.wustl.edu 37 3 165503943 165503943 + Silent SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 3 165503943 165503943 C T SNP BCHE ENST00000264381 human ensembl 74_37 -1 known silent c.1674 p.L558 1.000 NULL pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 tier1 - - 56 0 0.00 103 32 23.70 BRINP1 0 genome.wustl.edu 37 9 121930291 121930291 + Missense_Mutation SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 9 121930291 121930291 C A SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.1357 p.G453C 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 18 0 0.00 11 15 57.69 BRSK2 0 genome.wustl.edu 37 11 1459589 1459589 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 11 1459589 1459589 G T SNP BRSK2 ENST00000382179 human ensembl 74_37 +1 known missense c.378 p.K126N 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 BRSK2 HGNC ENSG00000174672 tier1 - - 39 0 0.00 51 4 7.27 C10orf68 0 genome.wustl.edu 37 10 32912718 32912718 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 10 32912718 32912718 G T SNP C10orf68 ENST00000375028 human ensembl 74_37 +1 putative missense c.58 p.G20C 0.330 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 tier1 - - 30 0 0.00 44 4 8.33 C10orf68 0 genome.wustl.edu 37 10 33134220 33134220 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 10 33134220 33134220 G T SNP C10orf68 ENST00000375025 human ensembl 74_37 +1 known missense c.1323 p.K441N 0.002 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 tier1 - - 89 0 0.00 23 3 11.54 C10orf76 0 genome.wustl.edu 37 10 103716479 103716479 + Missense_Mutation SNP A A G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 10 103716479 103716479 A G SNP C10orf76 ENST00000370033 human ensembl 74_37 -1 known missense c.1580 p.I527T 1.000 pfam_DUF1741,superfamily_ARM-type_fold pfam_DUF1741,superfamily_ARM-type_fold - no_errors C10orf76 HGNC ENSG00000120029 tier1 - - 26 0 0.00 14 5 26.32 C11orf34 0 genome.wustl.edu 37 11 112123114 112123114 + Silent SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 11 112123114 112123114 G A SNP C11orf34 ENST00000338832 human ensembl 74_37 -1 known silent c.405 p.I135 0.000 NULL NULL - no_errors C11orf34 HGNC ENSG00000188771 tier1 - - 39 0 0.00 10 20 66.67 C16orf70 0 genome.wustl.edu 37 16 67174430 67174430 + Missense_Mutation SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 16 67174430 67174430 C A SNP C16orf70 ENST00000219139 human ensembl 74_37 +1 known missense c.812 p.P271H 1.000 pfam_UPF0183 pfam_UPF0183 - no_errors C16orf70 HGNC ENSG00000125149 48 0 0.00 56 4 6.67 C1QB 0 genome.wustl.edu 37 1 22987445 22987445 + Frame_Shift_Del DEL A A - TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 1 22987445 22987445 A - DEL C1QB ENST00000314933 human ensembl 74_37 +1 known frame_shift_del c.328 p.G111fs 0.954 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QB HGNC ENSG00000173369 tier1 35 0 0.00 36 2 5.26 C1QTNF1 0 genome.wustl.edu 37 17 77043896 77043896 + Missense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 17 77043896 77043896 G A SNP C1QTNF1 ENST00000354124 human ensembl 74_37 +1 known missense c.602 p.G201D 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF1 HGNC ENSG00000173918 tier1 - - 43 0 0.00 101 6 5.61 C3orf38 0 genome.wustl.edu 37 3 88199286 88199286 + Silent SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 3 88199286 88199286 C T SNP C3orf38 ENST00000318887 human ensembl 74_37 +1 known silent c.84 p.A28 1.000 NULL NULL - no_errors C3orf38 HGNC ENSG00000179021 tier1 - - 72 0 0.00 11 29 72.50 C7orf43 0 genome.wustl.edu 37 7 99754275 99754275 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 7 99754275 99754275 C T SNP C7orf43 ENST00000316937 human ensembl 74_37 -1 known missense c.1058 p.S353N 1.000 NULL NULL - no_errors C7orf43 HGNC ENSG00000146826 tier1 - - 33 0 0.00 42 17 28.81 C8orf48 0 genome.wustl.edu 37 8 13425019 13425019 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 8 13425019 13425019 G T SNP C8orf48 ENST00000297324 human ensembl 74_37 +1 known missense c.519 p.L173F 0.018 NULL NULL - no_errors C8orf48 HGNC ENSG00000164743 60 0 0.00 37 3 7.50 CAND2 0 genome.wustl.edu 37 3 12849824 12849824 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 3 12849824 12849824 G T SNP CAND2 ENST00000456430 human ensembl 74_37 +1 known missense c.483 p.M161I 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 tier1 - - 35 0 0.00 25 5 16.67 CAPNS1 0 genome.wustl.edu 37 19 36632054 36632054 + Silent SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 36632054 36632054 C T SNP CAPNS1 ENST00000588780 human ensembl 74_37 +1 known silent c.141 p.G47 0.020 NULL pfscan_EF_hand_dom - no_errors CAPNS1 HGNC ENSG00000126247 45 0 0.00 102 8 7.21 CARD10 0 genome.wustl.edu 37 22 37892551 37892551 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 22 37892551 37892551 G T SNP CARD10 ENST00000251973 human ensembl 74_37 -1 known missense c.1964 p.A655D 0.154 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 tier1 - - 52 0 0.00 40 4 9.09 CASC10 0 genome.wustl.edu 37 10 21784563 21784563 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 10 21784563 21784563 C T SNP CASC10 ENST00000377113 human ensembl 74_37 -1 known missense c.377 p.G126E 0.057 NULL NULL - no_errors CASC10 HGNC ENSG00000204682 tier1 - - 54 0 0.00 45 11 19.64 CATSPER2P1 0 genome.wustl.edu 37 15 44036467 44036467 + RNA SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 15 44036467 44036467 C T SNP CATSPER2P1 ENST00000429276 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 tier1 - - 63 0 0.00 46 4 8.00 CCDC22 0 genome.wustl.edu 37 X 49106138 49106138 + Silent SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 X 49106138 49106138 C T SNP CCDC22 ENST00000376227 human ensembl 74_37 +1 known silent c.1722 p.I574 0.600 pfam_DUF812 pfam_DUF812 - no_errors CCDC22 HGNC ENSG00000101997 tier1 - - 110 0 0.00 80 6 6.98 CCDC36 0 genome.wustl.edu 37 3 49278678 49278678 + Missense_Mutation SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 3 49278678 49278678 C A SNP CCDC36 ENST00000296449 human ensembl 74_37 +1 known missense c.251 p.T84K 0.963 NULL NULL - no_errors CCDC36 HGNC ENSG00000173421 85 0 0.00 53 4 7.02 CCNK 0 genome.wustl.edu 37 14 99969323 99969323 + Splice_Site SNP T T A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 14 99969323 99969323 T A SNP CCNK ENST00000389879 human ensembl 74_37 +1 known splice_site c.1011+2 e7+2 1.000 - - - no_errors CCNK HGNC ENSG00000090061 tier1 - - 60 0 0.00 53 14 20.90 CD72 0 genome.wustl.edu 37 9 35610262 35610262 + RNA SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 9 35610262 35610262 G T SNP CD72 ENST00000490239 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CD72 HGNC ENSG00000137101 tier1 - - 97 0 0.00 76 4 5.00 CDH2 0 genome.wustl.edu 37 18 25572711 25572711 + Missense_Mutation SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 18 25572711 25572711 C A SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known missense c.1252 p.A418S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 tier1 - - 44 0 0.00 21 25 54.35 CDKN2A 0 genome.wustl.edu 37 9 21971208 21971208 + Splice_Site SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 9 21971208 21971208 C T SNP CDKN2A ENST00000361570 human ensembl 74_37 -1 known splice_site c.317-1 e2-1 1.000 - - - no_errors CDKN2A HGNC ENSG00000147889 tier1 - - 8 0 0.00 4 11 73.33 CENPN 0 genome.wustl.edu 37 16 81047747 81047747 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 16 81047747 81047747 C T SNP CENPN ENST00000299572 human ensembl 74_37 +1 known missense c.178 p.R60C 0.000 pfam_Chl4/mis15/CENP-N pfam_Chl4/mis15/CENP-N - no_errors CENPN HGNC ENSG00000166451 tier1 rs199499043 - 47 0 0.00 55 8 12.70 CEP164 0 genome.wustl.edu 37 11 117244544 117244544 + Silent SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 11 117244544 117244544 C A SNP CEP164 ENST00000278935 human ensembl 74_37 +1 known silent c.1230 p.G410 0.999 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 tier1 - - 76 0 0.00 33 26 44.07 CEP250 0 genome.wustl.edu 37 20 34089770 34089770 + Missense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 20 34089770 34089770 G A SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.3997 p.E1333K 1.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 tier1 - - 60 0 0.00 82 55 40.15 CEP290 0 genome.wustl.edu 37 12 88508214 88508214 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 12 88508214 88508214 G T SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.2041 p.L681I 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 tier1 - - 76 0 0.00 48 4 7.69 CEP290 0 genome.wustl.edu 37 12 88522769 88522769 + Missense_Mutation SNP T T C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 12 88522769 88522769 T C SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.896 p.D299G 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 tier1 - - 173 0 0.00 136 85 38.29 CERCAM 0 genome.wustl.edu 37 9 131186799 131186800 + Frame_Shift_Ins INS - - G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 9 131186799 131186800 - G INS CERCAM ENST00000372838 human ensembl 74_37 +1 known frame_shift_ins c.672_673 p.A225fs 0.996:0.989 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 tier1 31 0 0.00 31 5 13.89 CHEK2P2 0 genome.wustl.edu 37 15 20488873 20488873 + RNA SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 15 20488873 20488873 C T SNP CHEK2P2 ENST00000555186 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CHEK2P2 HGNC ENSG00000259156 tier1 - - 249 0 0.00 191 38 16.59 CHL1 0 genome.wustl.edu 37 3 405013 405013 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 3 405013 405013 G T SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.1532 p.W511L 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 tier1 - - 45 0 0.00 45 4 8.16 CLCN6 0 genome.wustl.edu 37 1 11894293 11894293 + Silent SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 1 11894293 11894293 C T SNP CLCN6 ENST00000346436 human ensembl 74_37 +1 known silent c.1527 p.S509 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC ENSG00000011021 tier1 - - 30 0 0.00 24 17 41.46 CLSTN3 0 genome.wustl.edu 37 12 7310144 7310144 + Missense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 12 7310144 7310144 G A SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known missense c.2587 p.V863I 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 28 0 0.00 59 4 6.35 CLVS2 0 genome.wustl.edu 37 6 123377007 123377007 + Silent SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 6 123377007 123377007 C T SNP CLVS2 ENST00000275162 human ensembl 74_37 +1 known silent c.732 p.I244 0.948 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS2 HGNC ENSG00000146352 tier1 - - 33 0 0.00 48 16 25.00 CMYA5 0 genome.wustl.edu 37 5 79029332 79029332 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 5 79029332 79029332 C T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.4744 p.P1582S 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 38 0 0.00 29 2 6.45 CNOT4 0 genome.wustl.edu 37 7 135079021 135079021 + Missense_Mutation SNP G G C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 7 135079021 135079021 G C SNP CNOT4 ENST00000541284 human ensembl 74_37 -1 known missense c.1276 p.Q426E 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom - no_errors CNOT4 HGNC ENSG00000080802 tier1 - - 91 0 0.00 56 20 26.32 CNTNAP3 0 genome.wustl.edu 37 9 39174372 39174372 + RNA SNP T T A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 9 39174372 39174372 T A SNP CNTNAP3 ENST00000377653 human ensembl 74_37 -1 known rna NULL NULL 0.776 - - - no_errors CNTNAP3 HGNC ENSG00000106714 tier1 rs200822754 - 39 0 0.00 48 5 9.43 COL6A3 0 genome.wustl.edu 37 2 238253432 238253432 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 2 238253432 238253432 G T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.7229 p.S2410Y 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 49 0 0.00 37 2 5.13 CPOX 0 genome.wustl.edu 37 3 98311880 98311880 + Missense_Mutation SNP G G C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 3 98311880 98311880 G C SNP CPOX ENST00000264193 human ensembl 74_37 -1 known missense c.469 p.L157V 0.999 pfam_Coprogen_oxidase_aer,superfamily_Coprogen_oxidase_aer pfam_Coprogen_oxidase_aer,superfamily_Coprogen_oxidase_aer,prints_Coprogen_oxidase_aer - no_errors CPOX HGNC ENSG00000080819 tier1 - - 67 0 0.00 153 27 15.00 CTNND2 0 genome.wustl.edu 37 5 10981940 10981940 + Nonsense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 5 10981940 10981940 G T SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known nonsense c.3362 p.S1121* 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 tier1 - - 56 0 0.00 46 4 8.00 CTTN 0 genome.wustl.edu 37 11 70281137 70281137 + Missense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 11 70281137 70281137 G A SNP CTTN ENST00000301843 human ensembl 74_37 +1 known missense c.1522 p.D508N 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors CTTN HGNC ENSG00000085733 tier1 - - 48 0 0.00 469 58 10.98 CYP2W1 0 genome.wustl.edu 37 7 1024635 1024635 + Silent SNP G G C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 7 1024635 1024635 G C SNP CYP2W1 ENST00000308919 human ensembl 74_37 +1 known silent c.387 p.T129 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2W1 HGNC ENSG00000073067 tier1 - - 67 0 0.00 47 38 44.71 DCLRE1C 0 genome.wustl.edu 37 10 14951315 14951315 + Missense_Mutation SNP A A G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 10 14951315 14951315 A G SNP DCLRE1C ENST00000378278 human ensembl 74_37 -1 known missense c.1171 p.Y391H 0.313 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 tier1 - - 36 0 0.00 57 4 6.56 DENND1C 0 genome.wustl.edu 37 19 6475721 6475721 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 6475721 6475721 G T SNP DENND1C ENST00000381480 human ensembl 74_37 -1 known missense c.821 p.A274D 0.059 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 31 0 0.00 75 4 5.06 DHX30 0 genome.wustl.edu 37 3 47889696 47889696 + Silent SNP A A G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 3 47889696 47889696 A G SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known silent c.2313 p.V771 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 53 0 0.00 41 6 12.77 DISC1 0 genome.wustl.edu 37 1 231906770 231906770 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 1 231906770 231906770 G T SNP DISC1 ENST00000439617 human ensembl 74_37 +1 known missense c.1588 p.A530S 0.166 superfamily_Prefoldin superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 49 0 0.00 68 4 5.56 DNAAF1 0 genome.wustl.edu 37 16 84209698 84209698 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 16 84209698 84209698 C T SNP DNAAF1 ENST00000378553 human ensembl 74_37 +1 known missense c.1858 p.P620S 0.044 NULL NULL - no_errors DNAAF1 HGNC ENSG00000154099 45 0 0.00 66 5 7.04 DOCK1 0 genome.wustl.edu 37 10 129216786 129216786 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 10 129216786 129216786 G T SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.4610 p.G1537V 1.000 pfam_DOCK_C,superfamily_Cyt_c-like_dom pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 tier1 - - 37 0 0.00 29 4 12.12 DOCK2 0 genome.wustl.edu 37 5 169507216 169507216 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 5 169507216 169507216 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.5216 p.A1739V 0.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 53 0 0.00 56 4 6.67 DOT1L 0 genome.wustl.edu 37 19 2217008 2217008 + Silent SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 2217008 2217008 C T SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known silent c.2463 p.G821 0.114 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 49 0 0.00 68 4 5.48 DPP6 0 genome.wustl.edu 37 7 153750014 153750014 + Missense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 7 153750014 153750014 G A SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.109 p.G37S 0.299 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 57 0 0.00 69 6 8.00 DRG1 0 genome.wustl.edu 37 22 31795658 31795658 + RNA SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 22 31795658 31795658 G T SNP DRG1 ENST00000433341 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors DRG1 HGNC ENSG00000185721 tier1 - - 41 0 0.00 76 18 19.15 DSG2 0 genome.wustl.edu 37 18 29099820 29099820 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 18 29099820 29099820 C T SNP DSG2 ENST00000261590 human ensembl 74_37 +1 known missense c.136 p.R46W 0.195 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG2 HGNC ENSG00000046604 67 0 0.00 56 3 5.08 DYX1C1 0 genome.wustl.edu 37 15 55759242 55759242 + Frame_Shift_Del DEL T T - TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 15 55759242 55759242 T - DEL DYX1C1 ENST00000321149 human ensembl 74_37 -1 known frame_shift_del c.523 p.I175fs 0.001 superfamily_HSP20-like_chaperone pfam_TPR_1,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors DYX1C1 HGNC ENSG00000256061 tier1 36 0 0.00 35 5 12.50 ELF1 0 genome.wustl.edu 37 13 41517266 41517266 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 13 41517266 41517266 G T SNP ELF1 ENST00000239882 human ensembl 74_37 -1 known missense c.628 p.L210I 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF1 HGNC ENSG00000120690 86 0 0.00 72 4 5.26 ENSG00000188002 0 genome.wustl.edu 37 5 1602846 1602846 + RNA SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 5 1602846 1602846 C T SNP ENSG00000188002 ENST00000507290 human ensembl 74_37 -1 known rna NULL NULL 0.974 - - - no_errors RP11-43F13.1 Clone_based_vega_gene ENSG00000188002 tier1 - - 36 0 0.00 33 17 34.00 ENSG00000244306 0 genome.wustl.edu 37 14 19856850 19856850 + RNA SNP T T G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 14 19856850 19856850 T G SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 tier1 - - 87 0 0.00 43 23 34.85 ENSG00000259407 0 genome.wustl.edu 37 15 86287707 86287707 + RNA SNP A A G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 15 86287707 86287707 A G SNP ENSG00000259407 ENST00000558375 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-158M2.3 Clone_based_vega_gene ENSG00000259407 tier1 - - 25 0 0.00 5 12 70.59 EPN3 0 genome.wustl.edu 37 17 48618874 48618874 + Silent SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 17 48618874 48618874 G T SNP EPN3 ENST00000537145 human ensembl 74_37 +1 known silent c.1488 p.T496 0.000 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN3 HGNC ENSG00000049283 40 0 0.00 50 3 5.66 ERP27 0 genome.wustl.edu 37 12 15068681 15068681 + RNA SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 12 15068681 15068681 G T SNP ERP27 ENST00000544881 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ERP27 HGNC ENSG00000139055 tier1 - - 32 0 0.00 38 37 49.33 EXT1 0 genome.wustl.edu 37 8 118812031 118812031 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 8 118812031 118812031 G T SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known missense c.2161 p.Q721K 1.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 23 0 0.00 44 4 8.33 EYS 0 genome.wustl.edu 37 6 65301788 65301788 + Silent SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 6 65301788 65301788 G T SNP EYS ENST00000370616 human ensembl 74_37 -1 known silent c.3972 p.L1324 0.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 39 0 0.00 48 4 7.69 F8 0 genome.wustl.edu 37 X 154157686 154157686 + Frame_Shift_Del DEL T T - TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 X 154157686 154157686 T - DEL F8 ENST00000360256 human ensembl 74_37 -1 known frame_shift_del c.4379 p.N1460fs 0.012 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 tier1 41 0 0.00 38 5 11.63 FAIM2 0 genome.wustl.edu 37 12 50282986 50282986 + Splice_Site SNP C C G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 12 50282986 50282986 C G SNP FAIM2 ENST00000320634 human ensembl 74_37 -1 known splice_site c.652-1 e10-1 1.000 - - - no_errors FAIM2 HGNC ENSG00000135472 26 0 0.00 23 3 11.54 FAM227A 0 genome.wustl.edu 37 22 38995862 38995862 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 22 38995862 38995862 G T SNP FAM227A ENST00000406767 human ensembl 74_37 -1 known missense c.1271 p.P424H 0.998 NULL superfamily_Staphylcoagulase_N - no_errors FAM227A HGNC ENSG00000184949 tier1 - - 31 0 0.00 45 4 8.16 FAM230A 0 genome.wustl.edu 37 22 20710075 20710075 + Missense_Mutation SNP A A G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 22 20710075 20710075 A G SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known missense c.1807 p.R603G 0.000 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 54 0 0.00 86 27 23.89 FAM230A 0 genome.wustl.edu 37 22 20710105 20710105 + Missense_Mutation SNP A A T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 22 20710105 20710105 A T SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known missense c.1837 p.T613S 0.237 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 60 0 0.00 85 16 15.84 FANCM 0 genome.wustl.edu 37 14 45667962 45667962 + Missense_Mutation SNP G G C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 14 45667962 45667962 G C SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.5832 p.L1944F 1.000 superfamily_Restrct_endonuc-II-like pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 tier1 - - 67 0 0.00 52 17 24.29 FAT1 0 genome.wustl.edu 37 4 187628047 187628047 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 4 187628047 187628047 G T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.2935 p.L979I 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 42 0 0.00 44 4 8.33 FAT2 0 genome.wustl.edu 37 5 150924003 150924003 + Missense_Mutation SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 5 150924003 150924003 C A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.6685 p.G2229W 0.912 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 67 0 0.00 51 4 7.27 FBXW2 0 genome.wustl.edu 37 9 123538400 123538400 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 9 123538400 123538400 G T SNP FBXW2 ENST00000608872 human ensembl 74_37 -1 known missense c.790 p.L264I 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW2 HGNC ENSG00000119402 tier1 - - 50 0 0.00 51 4 7.27 FGF9 0 genome.wustl.edu 37 13 22275604 22275604 + RNA SNP A A G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 13 22275604 22275604 A G SNP FGF9 ENST00000478546 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FGF9 HGNC ENSG00000102678 tier1 - - 40 0 0.00 26 21 44.68 FNBP1 0 genome.wustl.edu 37 9 132687355 132687355 + Missense_Mutation SNP T T C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 9 132687355 132687355 T C SNP FNBP1 ENST00000446176 human ensembl 74_37 -1 known missense c.871 p.M291V 0.998 NULL pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FNBP1 HGNC ENSG00000187239 tier1 - - 62 0 0.00 28 43 60.56 FOXK1 0 genome.wustl.edu 37 7 4798961 4798961 + Silent SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 7 4798961 4798961 G A SNP FOXK1 ENST00000328914 human ensembl 74_37 +1 known silent c.1431 p.Q477 1.000 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK1 HGNC ENSG00000164916 tier1 - - 21 0 0.00 39 22 36.07 FSTL5 0 genome.wustl.edu 37 4 162307332 162307332 + Missense_Mutation SNP T T A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 4 162307332 162307332 T A SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.2111 p.H704L 1.000 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 tier1 - - 31 0 0.00 21 20 48.78 GABRA2 0 genome.wustl.edu 37 4 46252353 46252353 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 4 46252353 46252353 C T SNP GABRA2 ENST00000540012 human ensembl 74_37 -1 known missense c.1343 p.R448K 1.000 superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 tier1 rs200987678 - 72 0 0.00 42 8 16.00 GALNT15 0 genome.wustl.edu 37 3 16250103 16250103 + Nonsense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 3 16250103 16250103 G A SNP GALNT15 ENST00000339732 human ensembl 74_37 +1 known nonsense c.1005 p.W335* 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT15 HGNC ENSG00000131386 tier1 - - 124 0 0.00 78 31 28.44 GOLGA8R 0 genome.wustl.edu 37 15 30699678 30699678 + Missense_Mutation SNP G G C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 15 30699678 30699678 G C SNP GOLGA8R ENST00000544495 human ensembl 74_37 -1 known missense c.451 p.L151V 0.988 NULL NULL - no_errors GOLGA8R HGNC ENSG00000186399 tier1 - - 8 0 0.00 5 8 61.54 GRIK4 0 genome.wustl.edu 37 11 120831696 120831696 + Silent SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 11 120831696 120831696 G T SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known silent c.1953 p.V651 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 tier1 - - 52 0 0.00 45 4 8.16 GRIN3B 0 genome.wustl.edu 37 19 1004830 1004830 + Silent SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 1004830 1004830 C T SNP GRIN3B ENST00000234389 human ensembl 74_37 +1 known silent c.1330 p.L444 1.000 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC ENSG00000116032 tier1 - - 36 0 0.00 36 4 10.00 HAUS4 0 genome.wustl.edu 37 14 23417087 23417087 + Missense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 14 23417087 23417087 G A SNP HAUS4 ENST00000206474 human ensembl 74_37 -1 known missense c.698 p.A233V 0.999 NULL NULL - no_errors HAUS4 HGNC ENSG00000092036 tier1 - - 28 0 0.00 32 20 38.46 HBP1 0 genome.wustl.edu 37 7 106836591 106836591 + Missense_Mutation SNP T T A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 7 106836591 106836591 T A SNP HBP1 ENST00000222574 human ensembl 74_37 +1 known missense c.1380 p.D460E 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_Ataxin-1_HBP1,pfam_HMG_box_dom,superfamily_Ataxin-1_HBP1,superfamily_HMG_box_dom,smart_Ataxin_AXH_dom,smart_HMG_box_dom,pfscan_Ataxin-1_HBP1,pfscan_HMG_box_dom - no_errors HBP1 HGNC ENSG00000105856 tier1 - - 47 0 0.00 49 16 24.62 HBP1 0 genome.wustl.edu 37 7 106836593 106836593 + Missense_Mutation SNP A A G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 7 106836593 106836593 A G SNP HBP1 ENST00000222574 human ensembl 74_37 +1 known missense c.1382 p.N461S 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_Ataxin-1_HBP1,pfam_HMG_box_dom,superfamily_Ataxin-1_HBP1,superfamily_HMG_box_dom,smart_Ataxin_AXH_dom,smart_HMG_box_dom,pfscan_Ataxin-1_HBP1,pfscan_HMG_box_dom - no_errors HBP1 HGNC ENSG00000105856 tier1 - - 47 0 0.00 47 16 25.40 HECTD2 0 genome.wustl.edu 37 10 93250956 93250956 + Splice_Site SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 10 93250956 93250956 G A SNP HECTD2 ENST00000446394 human ensembl 74_37 +1 known splice_site c.1204-1 e13-1 1.000 - - - no_errors HECTD2 HGNC ENSG00000165338 135 0 0.00 60 4 6.25 HECTD4 0 genome.wustl.edu 37 12 112688861 112688861 + Silent SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 12 112688861 112688861 G T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known silent c.3114 p.S1038 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 66 0 0.00 75 4 5.06 HIF1A 0 genome.wustl.edu 37 14 62200949 62200949 + Missense_Mutation SNP A A T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 14 62200949 62200949 A T SNP HIF1A ENST00000539097 human ensembl 74_37 +1 known missense c.1046 p.Y349F 1.000 pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAC,tigrfam_PAS pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors HIF1A HGNC ENSG00000100644 tier1 - - 98 0 0.00 45 42 48.28 HIF1AN 0 genome.wustl.edu 37 10 102304740 102304740 + Missense_Mutation SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 10 102304740 102304740 C A SNP HIF1AN ENST00000299163 human ensembl 74_37 +1 known missense c.610 p.Q204K 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HIF1AN HGNC ENSG00000166135 tier1 - - 44 0 0.00 40 4 9.09 HMBOX1 0 genome.wustl.edu 37 8 28906830 28906832 + In_Frame_Del DEL GGA GGA - TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 8 28906830 28906832 GGA - DEL HMBOX1 ENST00000444075 human ensembl 74_37 +1 known in_frame_del c.1146_1148 p.E386in_frame_del 1.000:1.000:1.000 NULL pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HMBOX1 HGNC ENSG00000147421 tier1 36 0 0.00 42 5 10.64 HRCT1 0 genome.wustl.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 9 35906348 35906350 CTG - DEL HRCT1 ENST00000354323 human ensembl 74_37 +1 known in_frame_del c.64_66 p.L25in_frame_del 0.168:0.493:0.516 NULL NULL - no_errors HRCT1 HGNC ENSG00000196196 tier1 47 0 0.00 53 6 10.17 HTRA1 0 genome.wustl.edu 37 10 124248966 124248966 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 10 124248966 124248966 G T SNP HTRA1 ENST00000368984 human ensembl 74_37 +1 known missense c.601 p.V201L 1.000 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,pfam_IGFBP-like,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA1 HGNC ENSG00000166033 75 0 0.00 58 4 6.45 HYDIN 0 genome.wustl.edu 37 16 71061539 71061539 + Missense_Mutation SNP T T C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 16 71061539 71061539 T C SNP HYDIN ENST00000448089 human ensembl 74_37 -1 known missense c.3008 p.D1003G 0.998 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 26 0 0.00 20 5 20.00 IHH 0 genome.wustl.edu 37 2 219920344 219920344 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 2 219920344 219920344 G T SNP IHH ENST00000295731 human ensembl 74_37 -1 known missense c.821 p.A274D 1.000 pirsf_Hedgehog,pfam_Hint_dom,smart_Hint_dom_N,prints_Hedgehog,pfscan_Intein_splice_site pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site - no_errors IHH HGNC ENSG00000163501 tier1 - - 63 0 0.00 91 5 5.21 IL15 0 genome.wustl.edu 37 4 142651093 142651093 + Missense_Mutation SNP G G C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 4 142651093 142651093 G C SNP IL15 ENST00000296545 human ensembl 74_37 +1 known missense c.334 p.E112Q 0.033 pfam_IL-15/IL-21_fam pfam_IL-15/IL-21_fam,prints_IL-15_mml,prints_IL-15 - no_errors IL15 HGNC ENSG00000164136 tier1 - - 68 0 0.00 71 13 15.48 ING4 0 genome.wustl.edu 37 12 6772257 6772257 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 12 6772257 6772257 C T SNP ING4 ENST00000396807 human ensembl 74_37 -1 known missense c.11 p.G4E 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING4 HGNC ENSG00000111653 tier1 - - 52 0 0.00 43 20 31.75 IQCF3 0 genome.wustl.edu 37 3 51863474 51863474 + RNA SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 3 51863474 51863474 G T SNP IQCF3 ENST00000472485 human ensembl 74_37 +1 known rna NULL NULL 0.264 - - - no_errors IQCF3 HGNC ENSG00000229972 tier1 - - 35 0 0.00 32 4 11.11 IRS1 0 genome.wustl.edu 37 2 227661396 227661398 + In_Frame_Del DEL TGC TGC - TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 2 227661396 227661398 TGC - DEL IRS1 ENST00000305123 human ensembl 74_37 -1 known in_frame_del c.2059_2057 p.S686in_frame_del 0.115:0.543:0.508 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 tier1 61 0 0.00 42 6 12.50 JMY 0 genome.wustl.edu 37 5 78620819 78620819 + RNA SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 5 78620819 78620819 G T SNP JMY ENST00000412001 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors JMY HGNC ENSG00000152409 tier1 - - 89 0 0.00 54 4 6.90 KANK1 0 genome.wustl.edu 37 9 712709 712709 + Missense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 9 712709 712709 G A SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known missense c.1943 p.R648Q 0.898 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 tier1 - - 24 0 0.00 6 17 73.91 KCNJ5 0 genome.wustl.edu 37 11 128786561 128786561 + Nonsense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 11 128786561 128786561 G T SNP KCNJ5 ENST00000529694 human ensembl 74_37 +1 known nonsense c.1195 p.E399* 0.998 pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4 - no_errors KCNJ5 HGNC ENSG00000120457 tier1 - - 52 0 0.00 52 4 7.14 KCNU1 0 genome.wustl.edu 37 8 36721957 36721957 + Nonsense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 8 36721957 36721957 G T SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known nonsense c.1927 p.G643* 0.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 tier1 - - 52 0 0.00 71 4 5.33 KIF26B 0 genome.wustl.edu 37 1 245850736 245850736 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 1 245850736 245850736 C T SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.4451 p.P1484L 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 tier1 - - 18 0 0.00 9 25 73.53 KIF5A 0 genome.wustl.edu 37 12 57972061 57972061 + Missense_Mutation SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 12 57972061 57972061 C A SNP KIF5A ENST00000455537 human ensembl 74_37 +1 known missense c.2474 p.S825Y 1.000 superfamily_Prefoldin pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 tier1 - - 69 0 0.00 52 4 7.14 KLHL30 0 genome.wustl.edu 37 2 239049954 239049954 + Silent SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 2 239049954 239049954 C T SNP KLHL30 ENST00000409223 human ensembl 74_37 +1 known silent c.559 p.L187 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL30 HGNC ENSG00000168427 52 0 0.00 44 4 8.33 KMT2D 0 genome.wustl.edu 37 12 49428677 49428678 + Frame_Shift_Ins INS - - A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 12 49428677 49428678 - A INS KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_ins c.10273_10272 p.A3424fs 1.000:1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 40 0 0.00 35 14 28.57 KRTAP13-3 0 genome.wustl.edu 37 21 31797973 31797973 + Silent SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 21 31797973 31797973 G A SNP KRTAP13-3 ENST00000390690 human ensembl 74_37 -1 known silent c.258 p.H86 0.000 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-3 HGNC ENSG00000240432 tier1 - - 56 0 0.00 41 20 32.79 L3HYPDH 0 genome.wustl.edu 37 14 59945904 59945904 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 14 59945904 59945904 G T SNP L3HYPDH ENST00000247194 human ensembl 74_37 -1 known missense c.674 p.A225D 1.000 pfam_Pro_racemase_fam,pirsf_Pro_racemase_fam pfam_Pro_racemase_fam,pirsf_Pro_racemase_fam - no_errors L3HYPDH HGNC ENSG00000126790 48 0 0.00 64 4 5.88 LAMA5 0 genome.wustl.edu 37 20 60894802 60894802 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 20 60894802 60894802 G T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.6809 p.A2270D 0.792 pfam_Laminin_I pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 14 0 0.00 36 4 10.00 LDLR 0 genome.wustl.edu 37 19 11222249 11222249 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 11222249 11222249 G T SNP LDLR ENST00000558518 human ensembl 74_37 +1 known missense c.1120 p.G374C 0.949 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLR HGNC ENSG00000130164 37 0 0.00 68 4 5.56 LGALS3BP 0 genome.wustl.edu 37 17 76968463 76968480 + In_Frame_Del DEL TCGCTGGGCACCGCCAGG TCGCTGGGCACCGCCAGG - TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 TCGCTGGGCACCGCCAGG TCGCTGGGCACCGCCAGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 17 76968463 76968480 TCGCTGGGCACCGCCAGG 0 DEL LGALS3BP ENST00000262776 human ensembl 74_37 -1 known in_frame_del c.953_936 p.DLAVPS312in_frame_del 0.996:1.000:1.000:1.000:1.000:0.993:0.989:0.952:0.941:0.902:0.724:0.021:0.122:0.961:0.997:0.997:0.986:0.944 pfam_BACK,smart_BACK pfam_SRCR,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_SRCR,prints_SRCR - no_errors LGALS3BP HGNC ENSG00000108679 27 0 0.00 66 5 7.04 LHCGR 0 genome.wustl.edu 37 2 48915637 48915637 + Nonsense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 2 48915637 48915637 C T SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known nonsense c.1299 p.W433* 1.000 pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 tier1 - - 64 0 0.00 71 4 5.33 LINC00687 0 genome.wustl.edu 37 20 11830171 11830174 + RNA DEL TCTC TCTC - TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 TCTC TCTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 20 11830171 11830174 TCTC - DEL LINC00687 ENST00000427835 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors LINC00687 HGNC ENSG00000228422 tier1 37 0 0.00 32 14 30.43 LOC101930193 0 genome.wustl.edu 37 7 63361328 63361328 + RNA SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 7 63361328 63361328 G T SNP LOC101930193 ENST00000450544 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-340I6.8 Clone_based_vega_gene ENSG00000226581 tier1 - - 8 0 0.00 10 7 41.18 LOC284837 0 genome.wustl.edu 37 21 45232041 45232041 + RNA SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 21 45232041 45232041 C T SNP LOC284837 ENST00000400385 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AP001053.11 Clone_based_vega_gene ENSG00000215458 tier1 - - 38 0 0.00 45 17 27.42 LRBA 0 genome.wustl.edu 37 4 151771892 151771892 + Missense_Mutation SNP T T C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 4 151771892 151771892 T C SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.3988 p.I1330V 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 tier1 - - 38 0 0.00 30 8 21.05 MAGEC1 0 genome.wustl.edu 37 X 140994968 140994968 + Missense_Mutation SNP A A T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 X 140994968 140994968 A T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.1778 p.H593L 0.015 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 74 0 0.00 61 22 26.51 MAGEC1 0 genome.wustl.edu 37 X 140994984 140994984 + Silent SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 X 140994984 140994984 C T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known silent c.1794 p.S598 0.967 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 82 0 0.00 68 14 17.07 MAGEC1 0 genome.wustl.edu 37 X 140994985 140994987 + In_Frame_Del DEL CCT CCT - TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 X 140994985 140994987 CCT - DEL MAGEC1 ENST00000285879 human ensembl 74_37 +1 known in_frame_del c.1795_1797 p.P600in_frame_del 0.972:0.982:0.991 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 81 0 0.00 49 32 39.51 MAGEC1 0 genome.wustl.edu 37 X 140995006 140995006 + Missense_Mutation SNP A A C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 X 140995006 140995006 A C SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.1816 p.M606L 0.064 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 79 0 0.00 32 40 55.56 MANBA 0 genome.wustl.edu 37 4 103571709 103571709 + Silent SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 4 103571709 103571709 G T SNP MANBA ENST00000226578 human ensembl 74_37 -1 known silent c.1854 p.T618 0.312 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like - no_errors MANBA HGNC ENSG00000109323 tier1 - - 76 0 0.00 60 4 6.25 MAP1B 0 genome.wustl.edu 37 5 71479594 71479594 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 5 71479594 71479594 G T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.311 p.S104I 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 57 0 0.00 57 4 6.56 MAPK1 0 genome.wustl.edu 37 22 22123604 22123604 + Silent SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 22 22123604 22123604 G T SNP MAPK1 ENST00000215832 human ensembl 74_37 -1 known silent c.972 p.I324 0.015 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC ENSG00000100030 tier1 - - 89 0 0.00 74 4 5.13 MAPK1IP1L 0 genome.wustl.edu 37 14 55529950 55529950 + Silent SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 14 55529950 55529950 G A SNP MAPK1IP1L ENST00000395468 human ensembl 74_37 +1 known silent c.633 p.S211 0.989 NULL NULL - no_errors MAPK1IP1L HGNC ENSG00000168175 31 0 0.00 29 2 6.45 MB21D2 0 genome.wustl.edu 37 3 192635476 192635476 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 3 192635476 192635476 C T SNP MB21D2 ENST00000392452 human ensembl 74_37 -1 known missense c.154 p.D52N 1.000 NULL pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 15 0 0.00 34 4 10.53 MCC 0 genome.wustl.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 5 112824048 112824049 - GCC INS MCC ENST00000408903 human ensembl 74_37 -1 putative in_frame_ins c.64_63 p.21in_frame_insG 0.854:0.894 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MCC HGNC ENSG00000171444 tier1 14 0 0.00 16 8 33.33 MCM3AP 0 genome.wustl.edu 37 21 47666671 47666671 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 21 47666671 47666671 C T SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.4420 p.V1474M 0.002 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 tier1 - - 34 0 0.00 54 4 6.90 MED12L 0 genome.wustl.edu 37 3 151112592 151112592 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 3 151112592 151112592 G T SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.5652 p.K1884N 0.998 pfam_Mediator_Med12_catenin-bd pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 29 0 0.00 66 4 5.71 MED15 0 genome.wustl.edu 37 22 20929472 20929472 + Missense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 22 20929472 20929472 G A SNP MED15 ENST00000263205 human ensembl 74_37 +1 known missense c.1225 p.A409T 0.352 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 40 0 0.00 54 4 6.90 MEGF10 0 genome.wustl.edu 37 5 126780962 126780962 + RNA SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 5 126780962 126780962 G A SNP MEGF10 ENST00000510828 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MEGF10 HGNC ENSG00000145794 tier1 - - 17 0 0.00 4 14 77.78 MICAL2 0 genome.wustl.edu 37 11 12247737 12247737 + Nonsense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 11 12247737 12247737 G T SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known nonsense c.1708 p.E570* 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 33 0 0.00 54 4 6.90 MRPL37 0 genome.wustl.edu 37 1 54670731 54670731 + Missense_Mutation SNP A A G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 1 54670731 54670731 A G SNP MRPL37 ENST00000360840 human ensembl 74_37 +1 known missense c.387 p.I129M 0.979 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPL37 HGNC ENSG00000116221 tier1 - - 63 0 0.00 71 4 5.33 MS4A6A 0 genome.wustl.edu 37 11 59939661 59939661 + Silent SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 11 59939661 59939661 G A SNP MS4A6A ENST00000323961 human ensembl 74_37 -1 known silent c.717 p.D239 0.000 NULL pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors MS4A6A HGNC ENSG00000110077 tier1 - - 43 0 0.00 29 21 42.00 MUTYH 0 genome.wustl.edu 37 1 45800071 45800071 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 1 45800071 45800071 G T SNP MUTYH ENST00000450313 human ensembl 74_37 -1 known missense c.149 p.A50D 0.000 NULL pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors MUTYH HGNC ENSG00000132781 53 0 0.00 44 4 8.33 MVK 0 genome.wustl.edu 37 12 110019329 110019329 + Silent SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 12 110019329 110019329 G T SNP MVK ENST00000228510 human ensembl 74_37 +1 known silent c.501 p.P167 0.018 pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Mev_gal_kin pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin - no_errors MVK HGNC ENSG00000110921 tier1 - - 73 0 0.00 38 28 42.42 NAV1 0 genome.wustl.edu 37 1 201763801 201763801 + RNA SNP A A G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 1 201763801 201763801 A G SNP NAV1 ENST00000469130 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors NAV1 HGNC ENSG00000134369 tier1 - - 35 0 0.00 29 19 39.58 NCF2 0 genome.wustl.edu 37 1 183543652 183543652 + Silent SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 1 183543652 183543652 G T SNP NCF2 ENST00000367535 human ensembl 74_37 -1 known silent c.471 p.S157 0.937 NULL pfam_SH3_domain,pfam_SH3_2,pfam_TPR_1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain - no_errors NCF2 HGNC ENSG00000116701 tier1 - - 44 0 0.00 68 4 5.56 NDUFV3 0 genome.wustl.edu 37 21 44329103 44329103 + Missense_Mutation SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 21 44329103 44329103 C A SNP NDUFV3 ENST00000354250 human ensembl 74_37 +1 known missense c.1394 p.S465Y 0.998 NULL NULL - no_errors NDUFV3 HGNC ENSG00000160194 tier1 - - 29 0 0.00 20 16 44.44 NEDD4L 0 genome.wustl.edu 37 18 55983218 55983218 + Missense_Mutation SNP G G C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 18 55983218 55983218 G C SNP NEDD4L ENST00000400345 human ensembl 74_37 +1 known missense c.302 p.R101P 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom,prints_C2_dom - no_errors NEDD4L HGNC ENSG00000049759 tier1 - - 90 0 0.00 49 25 33.78 NEK8 0 genome.wustl.edu 37 17 27062333 27062333 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 17 27062333 27062333 G T SNP NEK8 ENST00000268766 human ensembl 74_37 +1 known missense c.562 p.A188S 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 tier1 - - 53 0 0.00 65 4 5.80 NFE2L2 0 genome.wustl.edu 37 2 178098800 178098800 + Missense_Mutation SNP T T G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 2 178098800 178098800 T G SNP NFE2L2 ENST00000397062 human ensembl 74_37 -1 known missense c.245 p.E82A 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 tier1 - - 76 0 0.00 45 103 69.59 NFKBID 0 genome.wustl.edu 37 19 36387648 36387648 + Missense_Mutation SNP T T C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 36387648 36387648 T C SNP NFKBID ENST00000352614 human ensembl 74_37 -1 known missense c.694 p.I232V 0.998 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBID HGNC ENSG00000167604 tier1 - - 51 0 0.00 37 18 32.73 NPNT 0 genome.wustl.edu 37 4 106861271 106861271 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 4 106861271 106861271 G T SNP NPNT ENST00000379987 human ensembl 74_37 +1 known missense c.545 p.R182I 0.238 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_MAM_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors NPNT HGNC ENSG00000168743 tier1 - - 51 0 0.00 51 4 7.27 NR1H2 0 genome.wustl.edu 37 19 50881825 50881825 + Missense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 50881825 50881825 G A SNP NR1H2 ENST00000593532 human ensembl 74_37 +1 known missense c.392 p.S131N 1.000 NULL pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1H2 HGNC ENSG00000131408 21 0 0.00 62 13 17.11 NSD1 0 genome.wustl.edu 37 5 176722172 176722172 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 5 176722172 176722172 G T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.7803 p.R2601S 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 53 0 0.00 64 4 5.80 OAT 0 genome.wustl.edu 37 10 126094158 126094158 + RNA SNP T T G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 10 126094158 126094158 T G SNP OAT ENST00000483711 human ensembl 74_37 -1 known rna NULL NULL 0.074 - - - no_errors OAT HGNC ENSG00000065154 tier1 - - 52 0 0.00 33 15 31.25 OBSCN 0 genome.wustl.edu 37 1 228553240 228553240 + Missense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 1 228553240 228553240 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.19042 p.A6348T 0.835 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 51 0 0.00 50 4 7.41 OR52N2 0 genome.wustl.edu 37 11 5841692 5841692 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 11 5841692 5841692 G T SNP OR52N2 ENST00000317037 human ensembl 74_37 +1 known missense c.127 p.G43W 0.799 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52N2 HGNC ENSG00000180988 29 0 0.00 44 4 8.33 OR5AS1 0 genome.wustl.edu 37 11 55798389 55798389 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 11 55798389 55798389 G T SNP OR5AS1 ENST00000313555 human ensembl 74_37 +1 known missense c.495 p.R165S 0.059 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AS1 HGNC ENSG00000181785 16 0 0.00 47 4 7.84 OR8H2 0 genome.wustl.edu 37 11 55872693 55872693 + Missense_Mutation SNP C C G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 11 55872693 55872693 C G SNP OR8H2 ENST00000313503 human ensembl 74_37 +1 known missense c.175 p.P59A 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H2 HGNC ENSG00000181767 tier1 - - 88 0 0.00 92 57 38.26 PAPOLA 0 genome.wustl.edu 37 14 96998989 96998989 + Missense_Mutation SNP A A T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 14 96998989 96998989 A T SNP PAPOLA ENST00000557320 human ensembl 74_37 +1 known missense c.839 p.Y280F 1.000 NULL pfam_PolA_pol_cen_dom,pfam_Nucleotidyltransferase - no_errors PAPOLA HGNC ENSG00000090060 tier1 - - 37 0 0.00 41 31 43.06 PCDH1 0 genome.wustl.edu 37 5 141248589 141248589 + Frame_Shift_Del DEL G G - TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 5 141248589 141248589 G - DEL PCDH1 ENST00000287008 human ensembl 74_37 -1 known frame_shift_del c.448 p.R150fs 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 tier1 20 0 0.00 22 2 8.33 PCDHA13 0 genome.wustl.edu 37 5 140262071 140262071 + Missense_Mutation SNP A A G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 5 140262071 140262071 A G SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.218 p.D73G 0.438 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 tier1 - - 89 0 0.00 121 44 26.51 PCDHA13 0 genome.wustl.edu 37 5 140263363 140263363 + Missense_Mutation SNP C C G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 5 140263363 140263363 C G SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.1510 p.L504V 0.982 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 tier1 - - 88 0 0.00 120 34 21.94 PCDHA13 0 genome.wustl.edu 37 5 140263450 140263450 + Missense_Mutation SNP T T G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 5 140263450 140263450 T G SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.1597 p.F533V 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 tier1 - - 108 0 0.00 176 48 21.43 PDGFB 0 genome.wustl.edu 37 22 39621804 39621806 + In_Frame_Del DEL CGG CGG - TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 CGG CGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 22 39621804 39621806 CGG - DEL PDGFB ENST00000331163 human ensembl 74_37 -1 known in_frame_del c.650_648 p.R217in_frame_del 1.000:1.000:1.000 NULL pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFB HGNC ENSG00000100311 tier1 51 0 0.00 37 7 15.91 PDLIM2 0 genome.wustl.edu 37 8 22439044 22439044 + Splice_Site SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 8 22439044 22439044 G T SNP PDLIM2 ENST00000308354 human ensembl 74_37 +1 known splice_site c.995+1 e3+1 1.000 - - - no_errors PDLIM2 HGNC ENSG00000120913 tier1 - - 45 0 0.00 33 4 10.81 PDZD9 0 genome.wustl.edu 37 16 22007662 22007662 + Silent SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 16 22007662 22007662 G A SNP PDZD9 ENST00000424898 human ensembl 74_37 -1 known silent c.192 p.N64 0.569 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD9 HGNC ENSG00000155714 tier1 - - 62 0 0.00 104 21 16.80 PLS1 0 genome.wustl.edu 37 3 142388241 142388241 + Missense_Mutation SNP A A G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 3 142388241 142388241 A G SNP PLS1 ENST00000337777 human ensembl 74_37 +1 known missense c.80 p.N27S 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_CH-domain,pfam_EF_hand_dom,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors PLS1 HGNC ENSG00000120756 tier1 - - 41 0 0.00 67 13 16.25 PNPLA8 0 genome.wustl.edu 37 7 108119807 108119807 + Missense_Mutation SNP A A C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 7 108119807 108119807 A C SNP PNPLA8 ENST00000257694 human ensembl 74_37 -1 known missense c.1895 p.L632R 1.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold - no_errors PNPLA8 HGNC ENSG00000135241 tier1 rs144990439 - 37 0 0.00 29 43 58.90 PPME1 0 genome.wustl.edu 37 11 73957080 73957080 + Missense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 11 73957080 73957080 G A SNP PPME1 ENST00000398427 human ensembl 74_37 +1 novel missense c.836 p.G279E 0.016 pirsf_PPase_methylesterase_euk pirsf_PPase_methylesterase_euk - no_errors PPME1 HGNC ENSG00000214517 tier1 - - 64 0 0.00 59 4 6.35 PPP1R16B 0 genome.wustl.edu 37 20 37518295 37518295 + Missense_Mutation SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 20 37518295 37518295 C A SNP PPP1R16B ENST00000299824 human ensembl 74_37 +1 known missense c.308 p.T103K 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 tier1 - - 53 0 0.00 70 4 5.41 PPRC1 0 genome.wustl.edu 37 10 103901420 103901420 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 10 103901420 103901420 C T SNP PPRC1 ENST00000278070 human ensembl 74_37 +1 known missense c.3155 p.P1052L 0.002 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 tier1 - - 57 0 0.00 36 8 18.18 PRKCSH 0 genome.wustl.edu 37 19 11547294 11547294 + Missense_Mutation SNP A A G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 11547294 11547294 A G SNP PRKCSH ENST00000252455 human ensembl 74_37 +1 known missense c.164 p.Y55C 1.000 superfamily_LDrepeatLR_classA_rpt pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom - no_errors PRKCSH HGNC ENSG00000130175 tier1 - - 32 0 0.00 43 18 29.51 PSIP1 0 genome.wustl.edu 37 9 15472612 15472612 + RNA DEL A A - TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 9 15472612 15472612 A - DEL PSIP1 ENST00000495873 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PSIP1 HGNC ENSG00000164985 tier1 36 0 0.00 42 5 10.64 PTPRM 0 genome.wustl.edu 37 18 7955118 7955118 + Splice_Site SNP G G C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 18 7955118 7955118 G C SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known splice_site c.839-1 e7-1 1.000 - - - no_errors PTPRM HGNC ENSG00000173482 tier1 - - 15 0 0.00 8 9 52.94 PTPRO 0 genome.wustl.edu 37 12 15654736 15654736 + Missense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 12 15654736 15654736 G A SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known missense c.844 p.G282S 0.981 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,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,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 tier1 - - 93 0 0.00 102 63 38.18 PVRL1 0 genome.wustl.edu 37 11 119549353 119549353 + Nonsense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 11 119549353 119549353 G A SNP PVRL1 ENST00000264025 human ensembl 74_37 -1 known nonsense c.202 p.Q68* 1.000 pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL1 HGNC ENSG00000110400 tier1 - - 30 0 0.00 5 18 78.26 RANBP3L 0 genome.wustl.edu 37 5 36253802 36253802 + Nonsense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 5 36253802 36253802 G A SNP RANBP3L ENST00000296604 human ensembl 74_37 -1 known nonsense c.1114 p.R372* 0.990 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3L HGNC ENSG00000164188 tier1 - - 91 0 0.00 103 80 43.72 RASAL3 0 genome.wustl.edu 37 19 15571872 15571872 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 15571872 15571872 C T SNP RASAL3 ENST00000343625 human ensembl 74_37 -1 known missense c.605 p.R202Q 1.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC ENSG00000105122 tier1 - - 59 0 0.00 55 44 44.44 RGS12 0 genome.wustl.edu 37 4 3419238 3419238 + Frame_Shift_Del DEL A A - TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 4 3419238 3419238 A - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.2731 p.K912fs 1.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 tier1 67 0 0.00 37 4 9.76 RIC3 0 genome.wustl.edu 37 11 8160038 8160039 + RNA INS - - A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 11 8160038 8160039 - A INS RIC3 ENST00000524799 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RIC3 HGNC ENSG00000166405 tier1 12 0 0.00 9 3 25.00 RNF103 0 genome.wustl.edu 37 2 86831974 86831975 + Frame_Shift_Ins INS - - A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 2 86831974 86831975 - A INS RNF103 ENST00000237455 human ensembl 74_37 -1 known frame_shift_ins c.1050_1049 p.R352fs 0.588:1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 tier1 62 0 0.00 45 11 19.64 ROCK2 0 genome.wustl.edu 37 2 11332707 11332707 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 2 11332707 11332707 G T SNP ROCK2 ENST00000315872 human ensembl 74_37 -1 known missense c.3819 p.N1273K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 tier1 - - 53 0 0.00 73 4 5.13 ROS1 0 genome.wustl.edu 37 6 117715336 117715336 + Missense_Mutation SNP T T G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 6 117715336 117715336 T G SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.1153 p.M385L 1.000 smart_LDLR_classB_rpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 tier1 - - 47 0 0.00 48 27 36.00 RP1L1 0 genome.wustl.edu 37 8 10470478 10470478 + Nonsense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 8 10470478 10470478 G T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known nonsense c.1130 p.S377* 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 30 0 0.00 21 2 8.70 RPL13P5 0 genome.wustl.edu 37 12 6993766 6993767 + RNA INS - - A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 12 6993766 6993767 - A INS RPL13P5 ENST00000412023 human ensembl 74_37 +1 known rna NULL NULL 0.999:1.000 - - - no_errors RPL13P5 HGNC ENSG00000240370 tier1 8 0 0.00 13 4 23.53 RYR3 0 genome.wustl.edu 37 15 34042408 34042408 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 15 34042408 34042408 G T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.8320 p.A2774S 1.000 pfam_Ryanodine_rcpt,superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 75 0 0.00 66 4 5.71 SCAF1 0 genome.wustl.edu 37 19 50158059 50158059 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 50158059 50158059 G T SNP SCAF1 ENST00000360565 human ensembl 74_37 +1 known missense c.3550 p.G1184W 0.999 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 19 0 0.00 27 3 10.00 SETD2 0 genome.wustl.edu 37 3 47165837 47165837 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 3 47165837 47165837 G T SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known missense c.289 p.Q97K 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 tier1 - - 66 0 0.00 61 4 6.15 SH3PXD2A 0 genome.wustl.edu 37 10 105386873 105386873 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 10 105386873 105386873 C T SNP SH3PXD2A ENST00000369774 human ensembl 74_37 -1 known missense c.691 p.D231N 0.989 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2A HGNC ENSG00000107957 41 0 0.00 41 3 6.82 SH3TC2 0 genome.wustl.edu 37 5 148407158 148407158 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 5 148407158 148407158 G T SNP SH3TC2 ENST00000515425 human ensembl 74_37 -1 known missense c.2137 p.L713I 0.988 NULL pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 83 0 0.00 55 3 5.17 SIK2 0 genome.wustl.edu 37 11 111558830 111558830 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 11 111558830 111558830 G T SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known missense c.422 p.R141L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 42 0 0.00 39 4 9.30 SLC1A1 0 genome.wustl.edu 37 9 4585394 4585394 + Nonsense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 9 4585394 4585394 G T SNP SLC1A1 ENST00000262352 human ensembl 74_37 +1 known nonsense c.1411 p.E471* 1.000 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A1 HGNC ENSG00000106688 tier1 - - 54 0 0.00 72 4 5.26 SLC25A13 0 genome.wustl.edu 37 7 95799431 95799431 + Missense_Mutation SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 7 95799431 95799431 C A SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known missense c.1240 p.D414Y 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 tier1 - - 62 0 0.00 81 6 6.90 SLC35E3 0 genome.wustl.edu 37 12 69145879 69145879 + Missense_Mutation SNP T T C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 12 69145879 69145879 T C SNP SLC35E3 ENST00000398004 human ensembl 74_37 +1 known missense c.581 p.M194T 1.000 pfam_Tpt_PEP_trans_dom,pfam_DMT pfam_Tpt_PEP_trans_dom,pfam_DMT - no_errors SLC35E3 HGNC ENSG00000175782 tier1 - - 74 0 0.00 100 76 43.18 SLC44A4 0 genome.wustl.edu 37 6 31832357 31832357 + RNA DEL A A - TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 6 31832357 31832357 A - DEL SLC44A4 ENST00000487680 human ensembl 74_37 -1 putative rna NULL NULL 0.055 - - - no_errors SLC44A4 HGNC ENSG00000204385 tier1 24 0 0.00 26 5 16.13 SLC4A1 0 genome.wustl.edu 37 17 42335486 42335486 + Missense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 17 42335486 42335486 G A SNP SLC4A1 ENST00000262418 human ensembl 74_37 -1 known missense c.1150 p.R384C 0.117 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC ENSG00000004939 tier1 - - 32 0 0.00 27 18 40.00 SLC6A3 0 genome.wustl.edu 37 5 1422077 1422077 + Missense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 5 1422077 1422077 G A SNP SLC6A3 ENST00000270349 human ensembl 74_37 -1 known missense c.706 p.P236S 0.966 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 tier1 - - 38 0 0.00 85 27 24.11 SMEK2 0 genome.wustl.edu 37 2 55842612 55842612 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 2 55842612 55842612 G T SNP SMEK2 ENST00000272313 human ensembl 74_37 -1 known missense c.173 p.P58Q 1.000 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK2 HGNC ENSG00000138041 tier1 - - 65 0 0.00 50 4 7.41 SMG6 0 genome.wustl.edu 37 17 2196214 2196214 + Missense_Mutation SNP T T C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 17 2196214 2196214 T C SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.2209 p.R737G 1.000 pfam_EST1 pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 32 0 0.00 75 4 5.06 SMOC1 0 genome.wustl.edu 37 14 70477638 70477638 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 14 70477638 70477638 C T SNP SMOC1 ENST00000361956 human ensembl 74_37 +1 known missense c.832 p.R278C 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SMOC1 HGNC ENSG00000198732 tier1 - - 60 0 0.00 30 25 45.45 SMYD1 0 genome.wustl.edu 37 2 88367423 88367423 + Missense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 2 88367423 88367423 G A SNP SMYD1 ENST00000419482 human ensembl 74_37 +1 known missense c.40 p.A14T 0.187 smart_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 tier1 - - 103 0 0.00 139 24 14.72 SND1 0 genome.wustl.edu 37 7 127724828 127724828 + Frame_Shift_Del DEL C C - TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 7 127724828 127724828 C - DEL SND1 ENST00000354725 human ensembl 74_37 +1 known frame_shift_del c.2163 p.P723fs 1.000 pfam_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 tier1 44 0 0.00 44 3 6.38 SOS2 0 genome.wustl.edu 37 14 50597263 50597263 + Missense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 14 50597263 50597263 G A SNP SOS2 ENST00000216373 human ensembl 74_37 -1 known missense c.3293 p.S1098L 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 tier1 - - 76 0 0.00 49 53 51.96 SPATA18 0 genome.wustl.edu 37 4 52943092 52943092 + Silent SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 4 52943092 52943092 C T SNP SPATA18 ENST00000295213 human ensembl 74_37 +1 known silent c.906 p.L302 0.990 NULL NULL - no_errors SPATA18 HGNC ENSG00000163071 tier1 - - 49 0 0.00 68 24 26.09 SPOCK2 0 genome.wustl.edu 37 10 73827480 73827480 + Silent SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 10 73827480 73827480 G A SNP SPOCK2 ENST00000317376 human ensembl 74_37 -1 known silent c.600 p.T200 0.000 pfam_SPARC/Testican_Ca-bd-dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK2 HGNC ENSG00000107742 27 0 0.00 23 2 8.00 SREBF2 0 genome.wustl.edu 37 22 42274003 42274004 + Frame_Shift_Del DEL GT GT - TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 22 42274003 42274004 GT - DEL SREBF2 ENST00000361204 human ensembl 74_37 +1 known frame_shift_del c.1637_1638 p.V547fs 1.000:0.017 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 tier1 51 0 0.00 54 11 16.92 SSPO 0 genome.wustl.edu 37 7 149511902 149511902 + RNA SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 7 149511902 149511902 C A SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.841 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 43 0 0.00 26 17 39.53 STAB2 0 genome.wustl.edu 37 12 104136291 104136291 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 12 104136291 104136291 G T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.5990 p.C1997F 1.000 smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 tier1 - - 34 0 0.00 77 5 6.10 SYTL2 0 genome.wustl.edu 37 11 85445485 85445485 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 11 85445485 85445485 G T SNP SYTL2 ENST00000316356 human ensembl 74_37 -1 known missense c.887 p.P296H 0.747 NULL pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL2 HGNC ENSG00000137501 tier1 - - 38 0 0.00 45 4 8.16 TAB2 0 genome.wustl.edu 37 6 149699917 149699917 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 6 149699917 149699917 C T SNP TAB2 ENST00000286332 human ensembl 74_37 +1 known missense c.866 p.S289L 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC ENSG00000055208 38 0 0.00 95 5 5.00 TADA2A 0 genome.wustl.edu 37 17 35830506 35830506 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 17 35830506 35830506 G T SNP TADA2A ENST00000225396 human ensembl 74_37 +1 known missense c.898 p.A300S 1.000 pirsf_Transcriptional_adaptor_2 pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors TADA2A HGNC ENSG00000108264 tier1 - - 42 0 0.00 59 4 6.35 TAF1L 0 genome.wustl.edu 37 9 32631847 32631847 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 9 32631847 32631847 C T SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.3731 p.R1244Q 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 tier1 - - 45 0 0.00 26 54 67.50 TAMM41 0 genome.wustl.edu 37 3 11888004 11888004 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 3 11888004 11888004 C T SNP TAMM41 ENST00000273037 human ensembl 74_37 -1 known missense c.107 p.R36H 1.000 pfam_Mmp37,pirsf_Mmp37 pfam_Mmp37,pirsf_Mmp37 - no_errors TAMM41 HGNC ENSG00000144559 90 0 0.00 71 4 5.33 TANK 0 genome.wustl.edu 37 2 162087649 162087649 + Missense_Mutation SNP T T A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 2 162087649 162087649 T A SNP TANK ENST00000259075 human ensembl 74_37 +1 known missense c.688 p.S230T 1.000 NULL NULL - no_errors TANK HGNC ENSG00000136560 31 0 0.00 25 4 13.79 TBX19 0 genome.wustl.edu 37 1 168283550 168283550 + RNA SNP A A G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 1 168283550 168283550 A G SNP TBX19 ENST00000465440 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TBX19 HGNC ENSG00000143178 tier1 - - 45 0 0.00 17 95 84.82 TCHH 0 genome.wustl.edu 37 1 152084702 152084702 + Missense_Mutation SNP G G C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 1 152084702 152084702 G C SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.991 p.Q331E 0.077 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 43 0 0.00 183 13 6.60 TGIF2LX 0 genome.wustl.edu 37 X 89177504 89177504 + Silent SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 X 89177504 89177504 G A SNP TGIF2LX ENST00000283891 human ensembl 74_37 +1 known silent c.420 p.A140 0.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LX HGNC ENSG00000153779 tier1 - - 45 0 0.00 11 13 54.17 TLE6 0 genome.wustl.edu 37 19 2987131 2987131 + Silent SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 2987131 2987131 C T SNP TLE6 ENST00000246112 human ensembl 74_37 +1 known silent c.436 p.L146 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE6 HGNC ENSG00000104953 43 0 0.00 70 5 6.67 TMEM117 0 genome.wustl.edu 37 12 44605125 44605125 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 12 44605125 44605125 C T SNP TMEM117 ENST00000266534 human ensembl 74_37 +1 known missense c.563 p.A188V 1.000 NULL NULL - no_errors TMEM117 HGNC ENSG00000139173 tier1 - - 58 0 0.00 46 26 36.11 TMEM132C 0 genome.wustl.edu 37 12 129028603 129028603 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 12 129028603 129028603 C T SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known missense c.1076 p.T359M 0.977 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 29 0 0.00 93 54 36.73 TMEM155 0 genome.wustl.edu 37 4 122682832 122682832 + Nonsense_Mutation SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 4 122682832 122682832 C A SNP TMEM155 ENST00000337677 human ensembl 74_37 -1 known nonsense c.73 p.E25* 0.593 NULL NULL - no_errors TMEM155 HGNC ENSG00000164112 31 0 0.00 31 2 6.06 TNRC6A 0 genome.wustl.edu 37 16 24818001 24818001 + Missense_Mutation SNP A A G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 16 24818001 24818001 A G SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.4436 p.H1479R 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 tier1 - - 64 0 0.00 60 54 47.37 TOP2A 0 genome.wustl.edu 37 17 38569797 38569797 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 17 38569797 38569797 G T SNP TOP2A ENST00000423485 human ensembl 74_37 -1 known missense c.413 p.P138Q 1.000 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 tier1 - - 98 0 0.00 76 4 5.00 TP53 0 genome.wustl.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 17 7577538 7577538 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.743 p.R248Q 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 rs11540652 - 40 0 0.00 24 94 79.66 TRIM43 0 genome.wustl.edu 37 2 96265165 96265165 + Silent SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 2 96265165 96265165 C T SNP TRIM43 ENST00000272395 human ensembl 74_37 +1 known silent c.1185 p.Y395 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,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 TRIM43 HGNC ENSG00000144015 tier1 rs200456827 - 13 0 0.00 34 11 24.44 TSFM 0 genome.wustl.edu 37 12 58176601 58176601 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 12 58176601 58176601 C T SNP TSFM ENST00000323833 human ensembl 74_37 +1 known missense c.17 p.S6L 0.175 NULL pfam_Transl_elong_EFTs/EF1B_dimer,pfam_UBA/Ts_N,superfamily_Transl_elong_EFTs/EF1B_dimer,superfamily_UBA-like - no_errors TSFM HGNC ENSG00000123297 tier1 - - 49 0 0.00 54 50 48.08 TUBA8 0 genome.wustl.edu 37 22 18613614 18613614 + Missense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 22 18613614 18613614 G A SNP TUBA8 ENST00000330423 human ensembl 74_37 +1 known missense c.1061 p.G354D 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA8 HGNC ENSG00000183785 tier1 - - 55 0 0.00 84 5 5.62 UBAP1 0 genome.wustl.edu 37 9 34241623 34241623 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 9 34241623 34241623 G T SNP UBAP1 ENST00000545103 human ensembl 74_37 +1 known missense c.792 p.L264F 1.000 NULL superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP1 HGNC ENSG00000165006 46 0 0.00 43 3 6.52 UBOX5 0 genome.wustl.edu 37 20 3102655 3102655 + Silent SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 20 3102655 3102655 C A SNP UBOX5 ENST00000217173 human ensembl 74_37 -1 known silent c.630 p.L210 0.581 NULL pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING - no_errors UBOX5 HGNC ENSG00000185019 33 0 0.00 75 4 5.06 UBTF 0 genome.wustl.edu 37 17 42286802 42286802 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 17 42286802 42286802 G T SNP UBTF ENST00000302904 human ensembl 74_37 -1 known missense c.1823 p.S608Y 1.000 superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors UBTF HGNC ENSG00000108312 tier1 - - 38 0 0.00 20 28 58.33 UHRF1 0 genome.wustl.edu 37 19 4954401 4954401 + RNA SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 4954401 4954401 C T SNP UHRF1 ENST00000262952 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UHRF1 HGNC ENSG00000034063 tier1 - - 50 0 0.00 47 29 37.66 WASH3P 0 genome.wustl.edu 37 15 102512102 102512102 + RNA SNP G G C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 15 102512102 102512102 G C SNP WASH3P ENST00000354296 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors WASH3P HGNC ENSG00000185596 tier1 - - 21 0 0.00 19 18 48.65 XAB2 0 genome.wustl.edu 37 19 7685495 7685495 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 7685495 7685495 G T SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known missense c.2032 p.L678I 1.000 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 tier1 - - 39 0 0.00 60 4 6.06 XPO5 0 genome.wustl.edu 37 6 43538251 43538251 + Missense_Mutation SNP C C A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 6 43538251 43538251 C A SNP XPO5 ENST00000265351 human ensembl 74_37 -1 known missense c.609 p.K203N 0.997 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPO5 HGNC ENSG00000124571 tier1 - - 65 0 0.00 61 18 22.78 ZBTB33 0 genome.wustl.edu 37 X 119388906 119388906 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 X 119388906 119388906 G T SNP ZBTB33 ENST00000326624 human ensembl 74_37 +1 known missense c.1636 p.G546W 1.000 pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB33 HGNC ENSG00000177485 tier1 - - 59 0 0.00 58 4 6.45 ZC3H15 0 genome.wustl.edu 37 2 187364362 187364362 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 2 187364362 187364362 G T SNP ZC3H15 ENST00000437396 human ensembl 74_37 +1 known missense c.194 p.C65F 0.997 NULL NULL - no_errors ZC3H15 HGNC ENSG00000065548 tier1 - - 72 0 0.00 67 4 5.63 ZFHX3 0 genome.wustl.edu 37 16 72831382 72831382 + Silent SNP T T C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 16 72831382 72831382 T C SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.5199 p.Q1733 0.934 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 9 0 0.00 25 6 19.35 ZNF271 0 genome.wustl.edu 37 18 32889613 32889613 + RNA SNP A A G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 18 32889613 32889613 A G SNP ZNF271 ENST00000399070 human ensembl 74_37 +1 known rna NULL NULL 0.124 - - - no_errors ZNF271 HGNC ENSG00000257267 tier1 - - 24 0 0.00 10 16 61.54 ZNF292 0 genome.wustl.edu 37 6 87965931 87965931 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 6 87965931 87965931 G T SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.2584 p.A862S 0.955 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 44 0 0.00 21 2 8.70 ZNF33A 0 genome.wustl.edu 37 10 38343702 38343702 + Missense_Mutation SNP A A G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 10 38343702 38343702 A G SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known missense c.668 p.H223R 0.869 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 ZNF33A HGNC ENSG00000189180 tier1 - - 61 0 0.00 27 19 41.30 ZNF37BP 0 genome.wustl.edu 37 10 43015629 43015629 + RNA SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 10 43015629 43015629 G A SNP ZNF37BP ENST00000452075 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors ZNF37BP HGNC ENSG00000234420 tier1 - - 38 0 0.00 29 6 16.67 ZNF382 0 genome.wustl.edu 37 19 37117694 37117694 + Missense_Mutation SNP C C G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 37117694 37117694 C G SNP ZNF382 ENST00000292928 human ensembl 74_37 +1 known missense c.895 p.P299A 0.149 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 ZNF382 HGNC ENSG00000161298 tier1 - - 52 0 0.00 53 29 35.37 ZNF420 0 genome.wustl.edu 37 19 37619827 37619827 + Missense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 37619827 37619827 G A SNP ZNF420 ENST00000337995 human ensembl 74_37 +1 known missense c.1934 p.C645Y 0.993 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 ZNF420 HGNC ENSG00000197050 tier1 - - 91 0 0.00 71 27 27.55 ZNF532 0 genome.wustl.edu 37 18 56615330 56615330 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 18 56615330 56615330 G T SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known missense c.2737 p.V913L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 tier1 - - 32 0 0.00 37 4 9.76 ZNF569 0 genome.wustl.edu 37 19 37903687 37903687 + Missense_Mutation SNP T T C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 37903687 37903687 T C SNP ZNF569 ENST00000316950 human ensembl 74_37 -1 known missense c.1873 p.I625V 0.060 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 ZNF569 HGNC ENSG00000196437 tier1 - - 60 0 0.00 66 31 31.96 ZNF573 0 genome.wustl.edu 37 19 38283470 38283470 + RNA SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 38283470 38283470 G T SNP ZNF573 ENST00000480587 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF573 HGNC ENSG00000189144 tier1 - - 45 0 0.00 66 12 15.38 ZNF654 0 genome.wustl.edu 37 3 88188630 88188630 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 3 88188630 88188630 C T SNP ZNF654 ENST00000309495 human ensembl 74_37 +1 known missense c.170 p.A57V 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF654 HGNC ENSG00000175105 20 0 0.00 30 2 6.25 ZNF700 0 genome.wustl.edu 37 19 12060151 12060151 + Missense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 12060151 12060151 G A SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known missense c.1312 p.G438R 0.174 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF700 HGNC ENSG00000196757 tier1 - - 66 0 0.00 104 20 16.13 ZNF700 0 genome.wustl.edu 37 19 12060159 12060159 + Silent SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 12060159 12060159 C T SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known silent c.1320 p.H440 0.994 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF700 HGNC ENSG00000196757 tier1 - - 61 0 0.00 102 21 16.80 ZNF700 0 genome.wustl.edu 37 19 12060127 12060127 + Missense_Mutation SNP G G A TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 12060127 12060127 G A SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known missense c.1288 p.A430T 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 ZNF700 HGNC ENSG00000196757 69 0 0.00 106 8 7.02 ZNF700 0 genome.wustl.edu 37 19 12060135 12060135 + Missense_Mutation SNP G G C TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 12060135 12060135 G C SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known missense c.1296 p.Q432H 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 ZNF700 HGNC ENSG00000196757 69 0 0.00 107 7 6.09 ZNF700 0 genome.wustl.edu 37 19 12060147 12060147 + Silent SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 12060147 12060147 C T SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known silent c.1308 p.H436 0.090 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF700 HGNC ENSG00000196757 69 0 0.00 103 17 14.17 ZNF711 0 genome.wustl.edu 37 X 84526289 84526289 + Silent SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 X 84526289 84526289 C T SNP ZNF711 ENST00000395402 human ensembl 74_37 +1 known silent c.1765 p.L589 0.953 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 tier1 - - 64 0 0.00 38 4 9.52 ZNF829 0 genome.wustl.edu 37 19 37406748 37406748 + Missense_Mutation SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 19 37406748 37406748 C T SNP ZNF829 ENST00000520965 human ensembl 74_37 -1 known missense c.109 p.E37K 0.002 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 ZNF829 HGNC ENSG00000185869 tier1 - - 27 0 0.00 55 10 15.38 ZSWIM8 0 genome.wustl.edu 37 10 75556109 75556109 + RNA DEL A A - TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 10 75556109 75556109 A - DEL ZSWIM8 ENST00000425051 human ensembl 74_37 +1 known rna NULL NULL 0.341 - - - no_errors ZSWIM8 HGNC ENSG00000214655 tier1 14 0 0.00 17 2 10.53 ZSWIM8 0 genome.wustl.edu 37 10 75560670 75560670 + RNA SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 10 75560670 75560670 G T SNP ZSWIM8 ENST00000466568 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors ZSWIM8 HGNC ENSG00000214655 52 0 0.00 73 4 5.19 ZWILCH 0 genome.wustl.edu 37 15 66811367 66811370 + Frame_Shift_Del DEL AACA AACA - TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 AACA AACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 15 66811367 66811370 AACA 0 DEL ZWILCH ENST00000307897 human ensembl 74_37 +1 known frame_shift_del c.471_474 p.N159fs 0.000:0.000:0.007:0.000 pfam_RZZ-complex_zwilch pfam_RZZ-complex_zwilch - no_errors ZWILCH HGNC ENSG00000174442 67 0 0.00 60 6 9.09 ZZEF1 0 genome.wustl.edu 37 17 3969750 3969750 + Missense_Mutation SNP C C G TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 17 3969750 3969750 C G SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.4240 p.E1414Q 0.996 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 tier1 - - 59 0 0.00 71 39 35.45 ZZEF1 0 genome.wustl.edu 37 17 3992103 3992103 + Silent SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 62b389fa-2db2-4b3a-9168-021bfea8d00f 5b49dfb2-1197-4a77-afeb-3d827509d4c6 17 3992103 3992103 G T SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known silent c.2110 p.R704 0.998 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 tier1 - - 49 0 0.00 59 4 6.35