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 ABTB1 0 genome.wustl.edu 37 3 127396675 127396675 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 3 127396675 127396675 G A SNP ABTB1 ENST00000232744 human ensembl 74_37 +1 known missense c.1018 p.D340N 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB1 HGNC ENSG00000114626 10 0 0.00 14 4 22.22 ABTB2 0 genome.wustl.edu 37 11 34378857 34378857 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 11 34378857 34378857 G A SNP ABTB2 ENST00000435224 human ensembl 74_37 -1 known missense c.274 p.P92S 1.000 NULL pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 tier1 - - 38 0 0.00 37 10 21.28 ABTB2 0 genome.wustl.edu 37 11 34378866 34378866 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 11 34378866 34378866 G A SNP ABTB2 ENST00000435224 human ensembl 74_37 -1 known missense c.265 p.P89S 1.000 NULL pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 tier1 - - 42 0 0.00 36 12 25.00 ABTB2 0 genome.wustl.edu 37 11 34378895 34378895 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 11 34378895 34378895 G A SNP ABTB2 ENST00000435224 human ensembl 74_37 -1 known missense c.236 p.P79L 1.000 NULL pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 tier1 - - 47 0 0.00 33 13 28.26 ANKDD1A 0 genome.wustl.edu 37 15 65236929 65236929 + Missense_Mutation SNP C C A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 15 65236929 65236929 C A SNP ANKDD1A ENST00000380230 human ensembl 74_37 +1 known missense c.1146 p.F382L 0.999 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,prints_Ankyrin_rpt - no_errors ANKDD1A HGNC ENSG00000166839 19 0 0.00 22 4 15.38 ANKRD35 0 genome.wustl.edu 37 1 145563081 145563081 + Silent SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 1 145563081 145563081 C T SNP ANKRD35 ENST00000355594 human ensembl 74_37 +1 known silent c.2769 p.C923 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD35 HGNC ENSG00000198483 44 0 0.00 73 4 5.19 AP2A1 0 genome.wustl.edu 37 19 50303389 50303389 + Silent SNP C C A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 19 50303389 50303389 C A SNP AP2A1 ENST00000354293 human ensembl 74_37 +1 known silent c.1437 p.A479 0.015 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 42 0 0.00 52 3 5.45 APITD1-CORT 0 genome.wustl.edu 37 1 10511557 10511557 + Frame_Shift_Del DEL A A - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 1 10511557 10511557 A - DEL APITD1-CORT ENST00000400900 human ensembl 74_37 +1 known frame_shift_del c.400 p.R134fs 0.014 NULL pfam_Somatostatin/Cortistatin_C,superfamily_Histone-fold - no_errors APITD1-CORT HGNC ENSG00000251503 tier1 49 0 0.00 17 2 10.53 ARHGEF17 0 genome.wustl.edu 37 11 73068098 73068098 + Missense_Mutation SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 11 73068098 73068098 C T SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.3920 p.S1307F 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 tier1 - - 42 0 0.00 26 8 23.53 ATF6B 0 genome.wustl.edu 37 6 32083613 32083613 + Missense_Mutation SNP G G T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 6 32083613 32083613 G T SNP ATF6B ENST00000375203 human ensembl 74_37 -1 known missense c.2015 p.P672Q 0.968 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF6B HGNC ENSG00000213676 39 0 0.00 34 4 10.53 ATP1A1 0 genome.wustl.edu 37 1 116932186 116932186 + Missense_Mutation SNP A A T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 1 116932186 116932186 A T SNP ATP1A1 ENST00000295598 human ensembl 74_37 +1 known missense c.880 p.I294F 0.185 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A1 HGNC ENSG00000163399 tier1 - - 84 0 0.00 69 20 22.47 BAG6 0 genome.wustl.edu 37 6 31610093 31610093 + Missense_Mutation SNP G G C TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 6 31610093 31610093 G C SNP BAG6 ENST00000404765 human ensembl 74_37 -1 known missense c.2131 p.P711A 1.000 NULL pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC ENSG00000204463 26 0 0.00 17 7 29.17 BBS1 0 genome.wustl.edu 37 11 66297394 66297394 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 11 66297394 66297394 G A SNP BBS1 ENST00000419755 human ensembl 74_37 +1 known missense c.1555 p.A519T 0.999 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors CTD-3074O7.11 Clone_based_vega_gene ENSG00000256349 84 0 0.00 60 4 6.25 BUB1 0 genome.wustl.edu 37 2 111398882 111398882 + Splice_Site SNP G G T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 2 111398882 111398882 G T SNP BUB1 ENST00000302759 human ensembl 74_37 -1 known splice_site c.2783+2 e22+2 1.000 - - - no_errors BUB1 HGNC ENSG00000169679 tier1 - - 23 0 0.00 23 12 34.29 C17orf100 0 genome.wustl.edu 37 17 6555655 6555658 + Frame_Shift_Del DEL GCCA GCCA - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 GCCA GCCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 17 6555655 6555658 GCCA - DEL C17orf100 ENST00000391428 human ensembl 74_37 +1 known frame_shift_del c.422_425 p.S145fs 0.122:0.120:0.117:0.113 NULL NULL - no_errors C17orf100 HGNC ENSG00000212734 tier1 36 0 0.00 21 2 8.70 C2orf68 0 genome.wustl.edu 37 2 85838860 85838860 + Missense_Mutation SNP T T A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 2 85838860 85838860 T A SNP C2orf68 ENST00000306336 human ensembl 74_37 -1 known missense c.157 p.R53W 1.000 pfam_UPF0561 pfam_UPF0561 - no_errors C2orf68 HGNC ENSG00000168887 tier1 - - 36 0 0.00 19 11 36.67 CARD9 0 genome.wustl.edu 37 9 139262253 139262253 + Missense_Mutation SNP C C A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 9 139262253 139262253 C A SNP CARD9 ENST00000371732 human ensembl 74_37 -1 known missense c.1105 p.A369S 0.000 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD9 HGNC ENSG00000187796 tier1 - - 10 0 0.00 9 4 30.77 CASKIN2 0 genome.wustl.edu 37 17 73502696 73502696 + Silent SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 17 73502696 73502696 C T SNP CASKIN2 ENST00000321617 human ensembl 74_37 -1 known silent c.585 p.L195 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 37 0 0.00 28 2 6.67 CD14 0 genome.wustl.edu 37 5 140012199 140012199 + Nonsense_Mutation SNP C C A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 5 140012199 140012199 C A SNP CD14 ENST00000302014 human ensembl 74_37 -1 known nonsense c.370 p.E124* 0.031 pirsf_Monocyte_diff_Ag_CD14 pfam_Leu-rich_rpt,pirsf_Monocyte_diff_Ag_CD14 - no_errors CD14 HGNC ENSG00000170458 44 0 0.00 30 2 6.25 CD200R1 0 genome.wustl.edu 37 3 112643345 112643345 + Missense_Mutation SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 3 112643345 112643345 C T SNP CD200R1 ENST00000308611 human ensembl 74_37 -1 known missense c.916 p.V306I 0.005 NULL pfam_CD80_C2-set,pfscan_Ig-like_dom - no_errors CD200R1 HGNC ENSG00000163606 tier1 - - 51 0 0.00 76 23 23.23 CD5L 0 genome.wustl.edu 37 1 157805945 157805945 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 1 157805945 157805945 G A SNP CD5L ENST00000368174 human ensembl 74_37 -1 known missense c.56 p.A19V 0.012 superfamily_Srcr_rcpt-rel pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD5L HGNC ENSG00000073754 tier1 - - 9 0 0.00 21 9 30.00 CDC40 0 genome.wustl.edu 37 6 110528714 110528714 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 6 110528714 110528714 G A SNP CDC40 ENST00000307731 human ensembl 74_37 +1 known missense c.412 p.A138T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC40 HGNC ENSG00000168438 tier1 - - 77 0 0.00 60 4 6.25 CDH10 0 genome.wustl.edu 37 5 24491785 24491785 + Silent SNP T T C TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 5 24491785 24491785 T C SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known silent c.1776 p.Q592 0.197 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 tier1 - - 23 0 0.00 24 15 38.46 CDHR3 0 genome.wustl.edu 37 7 105668106 105668106 + Splice_Site SNP A A T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 7 105668106 105668106 A T SNP CDHR3 ENST00000542731 human ensembl 74_37 +1 known splice_site c.2259-2 e16-2 0.000 - - - no_errors CDHR3 HGNC ENSG00000128536 tier1 rs145019687 - 42 0 0.00 33 5 11.90 CNPY3 0 genome.wustl.edu 37 6 42897358 42897360 + In_Frame_Del DEL TGC TGC - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 6 42897358 42897360 TGC - DEL CNPY3 ENST00000372836 human ensembl 74_37 +1 known in_frame_del c.50_52 p.L21in_frame_del 0.122:0.131:0.153 NULL pfam_DUF3456 - no_errors CNPY3 HGNC ENSG00000137161 tier1 20 0 0.00 19 3 13.64 CNTN6 0 genome.wustl.edu 37 3 1363504 1363504 + Frame_Shift_Del DEL A A - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 3 1363504 1363504 A - DEL CNTN6 ENST00000350110 human ensembl 74_37 +1 known frame_shift_del c.932 p.Q311fs 1.000 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 tier1 23 0 0.00 8 13 61.90 CRY2 0 genome.wustl.edu 37 11 45891258 45891258 + Missense_Mutation SNP A A G TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 11 45891258 45891258 A G SNP CRY2 ENST00000443527 human ensembl 74_37 +1 known missense c.1147 p.I383V 1.000 pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY2 HGNC ENSG00000121671 tier1 - - 37 0 0.00 23 11 32.35 CTNND1 0 genome.wustl.edu 37 11 57563062 57563062 + Frame_Shift_Del DEL T T - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 11 57563062 57563062 T - DEL CTNND1 ENST00000399050 human ensembl 74_37 +1 known frame_shift_del c.281 p.L95fs 0.992 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 tier1 35 0 0.00 37 2 5.13 DCAF12 0 genome.wustl.edu 37 9 34089557 34089557 + Silent SNP G G T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 9 34089557 34089557 G T SNP DCAF12 ENST00000361264 human ensembl 74_37 -1 known silent c.1056 p.I352 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12 HGNC ENSG00000198876 tier1 - - 50 0 0.00 45 22 32.84 DDHD1 0 genome.wustl.edu 37 14 53525283 53525283 + Missense_Mutation SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 14 53525283 53525283 C T SNP DDHD1 ENST00000323669 human ensembl 74_37 -1 known missense c.1904 p.R635H 1.000 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC ENSG00000100523 tier1 - - 53 0 0.00 60 4 6.25 DFNB31 0 genome.wustl.edu 37 9 117186643 117186643 + Missense_Mutation SNP G G T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 9 117186643 117186643 G T SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known missense c.1387 p.L463M 0.996 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 49 0 0.00 37 2 5.13 DGCR8 0 genome.wustl.edu 37 22 20094812 20094812 + Missense_Mutation SNP G G T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 22 20094812 20094812 G T SNP DGCR8 ENST00000351989 human ensembl 74_37 +1 known missense c.2015 p.G672V 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom - no_errors DGCR8 HGNC ENSG00000128191 67 0 0.00 51 4 7.27 DMRTB1 0 genome.wustl.edu 37 1 53927253 53927253 + Missense_Mutation SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 1 53927253 53927253 C T SNP DMRTB1 ENST00000371445 human ensembl 74_37 +1 known missense c.685 p.P229S 0.000 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTB1 HGNC ENSG00000143006 tier1 - - 30 0 0.00 22 4 15.38 ENPEP 0 genome.wustl.edu 37 4 111430828 111430828 + Frame_Shift_Del DEL T T - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 4 111430828 111430828 T - DEL ENPEP ENST00000265162 human ensembl 74_37 +1 known frame_shift_del c.1059 p.F354fs 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 tier1 43 0 0.00 37 2 5.13 ENSG00000237027 0 genome.wustl.edu 37 6 90276680 90276680 + RNA SNP C C G TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 6 90276680 90276680 C G SNP ENSG00000237027 ENST00000425588 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors RP11-16C18.3 Clone_based_vega_gene ENSG00000237027 tier1 - - 22 0 0.00 7 10 58.82 ENSG00000244567 0 genome.wustl.edu 37 2 208687115 208687115 + RNA SNP A A C TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 2 208687115 208687115 A C SNP ENSG00000244567 ENST00000343987 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC096772.6 Clone_based_vega_gene ENSG00000244567 tier1 - - 113 0 0.00 48 29 37.66 ENTPD2 0 genome.wustl.edu 37 9 139944734 139944734 + Splice_Site SNP A A G TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 9 139944734 139944734 A G SNP ENTPD2 ENST00000355097 human ensembl 74_37 -1 known splice_site c.1029+2 e6+2 1.000 - - - no_errors ENTPD2 HGNC ENSG00000054179 48 0 0.00 39 4 9.30 FAM199X 0 genome.wustl.edu 37 X 103432909 103432909 + Missense_Mutation SNP C C G TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 X 103432909 103432909 C G SNP FAM199X ENST00000493442 human ensembl 74_37 +1 known missense c.918 p.N306K 1.000 NULL NULL - no_errors FAM199X HGNC ENSG00000123575 tier1 - - 9 0 0.00 5 12 70.59 FAM20A 0 genome.wustl.edu 37 17 66537011 66537011 + Missense_Mutation SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 17 66537011 66537011 C T SNP FAM20A ENST00000592554 human ensembl 74_37 -1 known missense c.1198 p.A400T 1.000 pfam_DUF1193 pfam_DUF1193 - no_errors FAM20A HGNC ENSG00000108950 45 0 0.00 75 4 5.06 FGG 0 genome.wustl.edu 37 4 155528020 155528020 + Silent SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 4 155528020 155528020 G A SNP FGG ENST00000336098 human ensembl 74_37 -1 known silent c.966 p.G322 0.007 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGG HGNC ENSG00000171557 tier1 rs146218442 - 43 0 0.00 10 13 56.52 FOXS1 0 genome.wustl.edu 37 20 30432392 30432392 + Frame_Shift_Del DEL G G - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 20 30432392 30432392 G - DEL FOXS1 ENST00000375978 human ensembl 74_37 -1 known frame_shift_del c.954 p.C319fs 0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXS1 HGNC ENSG00000179772 tier1 86 0 0.00 38 2 5.00 GGN 0 genome.wustl.edu 37 19 38876616 38876616 + Missense_Mutation SNP G G T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 19 38876616 38876616 G T SNP GGN ENST00000334928 human ensembl 74_37 -1 known missense c.1286 p.P429Q 0.003 NULL NULL - no_errors GGN HGNC ENSG00000179168 16 0 0.00 9 2 18.18 GLB1L3 0 genome.wustl.edu 37 11 134188557 134188557 + Silent SNP A A G TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 11 134188557 134188557 A G SNP GLB1L3 ENST00000431683 human ensembl 74_37 +1 known silent c.1812 p.G604 0.012 superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC ENSG00000166105 tier1 - - 48 0 0.00 33 17 34.00 GOLGB1 0 genome.wustl.edu 37 3 121400679 121400679 + Silent SNP A A G TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 3 121400679 121400679 A G SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known silent c.8713 p.L2905 1.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 tier1 - - 50 0 0.00 33 22 40.00 GPR75-ASB3 0 genome.wustl.edu 37 2 53990717 53990717 + RNA SNP C C A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 2 53990717 53990717 C A SNP GPR75-ASB3 ENST00000414369 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors GPR75-ASB3 HGNC ENSG00000115239 tier1 - - 62 0 0.00 34 4 10.53 GPRIN2 0 genome.wustl.edu 37 10 46999668 46999668 + Missense_Mutation SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 10 46999668 46999668 C T SNP GPRIN2 ENST00000374314 human ensembl 74_37 +1 known missense c.788 p.A263V 0.993 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 tier1 - - 33 0 0.00 14 6 30.00 GRHL2 0 genome.wustl.edu 37 8 102555638 102555638 + Missense_Mutation SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 8 102555638 102555638 C T SNP GRHL2 ENST00000251808 human ensembl 74_37 +1 known missense c.190 p.L64F 1.000 NULL pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 tier1 - - 43 0 0.00 21 30 58.82 GTPBP10 0 genome.wustl.edu 37 7 89984453 89984453 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 7 89984453 89984453 G A SNP GTPBP10 ENST00000222511 human ensembl 74_37 +1 known missense c.373 p.G125S 1.000 pfam_GTP1_OBG_dom,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA pfam_GTP_binding_domain,pfam_GTP1_OBG_dom,pfam_Fe2_transport_prot_B_N,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain - no_errors GTPBP10 HGNC ENSG00000105793 76 0 0.00 54 3 5.26 HMGXB4 0 genome.wustl.edu 37 22 35661543 35661544 + Frame_Shift_Ins INS - - A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 22 35661543 35661544 - A INS HMGXB4 ENST00000216106 human ensembl 74_37 +1 known frame_shift_ins c.1162_1163 p.K392fs 1.000:1.000 superfamily_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGXB4 HGNC ENSG00000100281 tier1 11 0 0.00 13 3 18.75 HS3ST1 0 genome.wustl.edu 37 4 11400816 11400816 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 4 11400816 11400816 G A SNP HS3ST1 ENST00000002596 human ensembl 74_37 -1 known missense c.814 p.R272W 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST1 HGNC ENSG00000002587 tier1 - - 47 0 0.00 29 5 14.71 HTR1E 0 genome.wustl.edu 37 6 87725923 87725923 + Missense_Mutation SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 6 87725923 87725923 C T SNP HTR1E ENST00000305344 human ensembl 74_37 +1 known missense c.871 p.R291C 0.569 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 tier1 - - 72 0 0.00 40 13 24.53 HYAL2 0 genome.wustl.edu 37 3 50357378 50357378 + Silent SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 3 50357378 50357378 G A SNP HYAL2 ENST00000357750 human ensembl 74_37 -1 known silent c.543 p.F181 0.000 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL2 HGNC ENSG00000068001 27 0 0.00 21 2 8.70 IFNLR1 0 genome.wustl.edu 37 1 24488008 24488008 + Frame_Shift_Del DEL G G - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 1 24488008 24488008 G - DEL IFNLR1 ENST00000374418 human ensembl 74_37 -1 known frame_shift_del c.534 p.R179fs 0.000 NULL superfamily_Fibronectin_type3 - no_errors IFNLR1 HGNC ENSG00000185436 tier1 49 0 0.00 24 3 11.11 IMMP2L 0 genome.wustl.edu 37 7 111161482 111161482 + Missense_Mutation SNP C C A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 7 111161482 111161482 C A SNP IMMP2L ENST00000331762 human ensembl 74_37 -1 known missense c.22 p.V8L 0.988 NULL pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1 - no_errors IMMP2L HGNC ENSG00000184903 tier1 - - 35 0 0.00 17 11 39.29 INTS7 0 genome.wustl.edu 37 1 212148519 212148519 + Missense_Mutation SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 1 212148519 212148519 C T SNP INTS7 ENST00000440600 human ensembl 74_37 -1 known missense c.1657 p.A553T 1.000 NULL superfamily_ARM-type_fold - no_errors INTS7 HGNC ENSG00000143493 20 0 0.00 34 4 10.53 ITGAL 0 genome.wustl.edu 37 16 30484186 30484186 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 16 30484186 30484186 G A SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known missense c.28 p.A10T 0.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 tier1 - - 49 0 0.00 61 4 6.15 ITPA 0 genome.wustl.edu 37 20 3194687 3194687 + Silent SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 20 3194687 3194687 G A SNP ITPA ENST00000380113 human ensembl 74_37 +1 known silent c.246 p.G82 0.694 pfam_Ham1p-like,tigrfam_Ham1p-like pfam_Ham1p-like,tigrfam_Ham1p-like - no_errors ITPA HGNC ENSG00000125877 tier1 - - 82 0 0.00 26 35 56.45 JAKMIP3 0 genome.wustl.edu 37 10 133978235 133978235 + Frame_Shift_Del DEL A A - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 10 133978235 133978235 A - DEL JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known frame_shift_del c.2480 p.K828fs 1.000 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 tier1 22 0 0.00 12 2 14.29 KBTBD7 0 genome.wustl.edu 37 13 41767331 41767331 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 13 41767331 41767331 G A SNP KBTBD7 ENST00000379483 human ensembl 74_37 -1 known missense c.1063 p.P355S 1.000 pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD7 HGNC ENSG00000120696 tier1 - - 54 0 0.00 40 6 13.04 KDM6A 0 genome.wustl.edu 37 X 44941834 44941834 + Missense_Mutation SNP A A T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 X 44941834 44941834 A T SNP KDM6A ENST00000382899 human ensembl 74_37 +1 known missense c.3179 p.K1060I 1.000 NULL pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 tier1 - - 60 0 0.00 8 32 80.00 KIAA0196 0 genome.wustl.edu 37 8 126061249 126061249 + Missense_Mutation SNP T T C TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 8 126061249 126061249 T C SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known missense c.2378 p.K793R 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 tier1 - - 48 0 0.00 40 11 21.57 KITLG 0 genome.wustl.edu 37 12 88910245 88910245 + Missense_Mutation SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 12 88910245 88910245 C T SNP KITLG ENST00000228280 human ensembl 74_37 -1 known missense c.386 p.S129N 0.011 pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF - no_errors KITLG HGNC ENSG00000049130 tier1 - - 80 0 0.00 43 22 33.85 KLHL3 0 genome.wustl.edu 37 5 136957467 136957468 + RNA DEL AC AC - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 5 136957467 136957468 AC - DEL KLHL3 ENST00000506873 human ensembl 74_37 -1 known rna NULL NULL 0.424:0.441 - - - no_errors KLHL3 HGNC ENSG00000146021 tier1 19 0 0.00 14 5 26.32 KLHL8 0 genome.wustl.edu 37 4 88097982 88097982 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 4 88097982 88097982 G A SNP KLHL8 ENST00000273963 human ensembl 74_37 -1 known missense c.1135 p.H379Y 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL8 HGNC ENSG00000145332 44 0 0.00 26 2 7.14 KLK2 0 genome.wustl.edu 37 19 51379818 51379818 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 19 51379818 51379818 G A SNP KLK2 ENST00000595316 human ensembl 74_37 +1 known missense c.137 p.R46H 0.002 NULL NULL - no_errors KLK2 HGNC ENSG00000167751 tier1 - - 21 0 0.00 26 11 29.73 KMT2D 0 genome.wustl.edu 37 12 49433518 49433518 + Nonsense_Mutation SNP T T A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 12 49433518 49433518 T A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known nonsense c.8035 p.K2679* 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 30 0 0.00 17 3 15.00 LDLRAP1 0 genome.wustl.edu 37 1 25881428 25881428 + Frame_Shift_Del DEL C C - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 1 25881428 25881428 C - DEL LDLRAP1 ENST00000374338 human ensembl 74_37 +1 known frame_shift_del c.309 p.T104fs 0.996 pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors LDLRAP1 HGNC ENSG00000157978 tier1 35 0 0.00 11 2 15.38 LOC101929290 0 genome.wustl.edu 37 8 11177526 11177526 + RNA DEL T T - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 8 11177526 11177526 T - DEL LOC101929290 ENST00000498997 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors AF131216.6 Clone_based_vega_gene ENSG00000246477 tier1 15 0 0.00 9 4 30.77 LRP8 0 genome.wustl.edu 37 1 53715213 53715214 + Frame_Shift_Ins INS - - AA TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 1 53715213 53715214 - AA INS LRP8 ENST00000306052 human ensembl 74_37 -1 known frame_shift_ins c.2692_2691 p.D897fs 1.000:1.000 NULL 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_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP8 HGNC ENSG00000157193 tier1 31 0 0.00 25 10 28.57 LRRC66 0 genome.wustl.edu 37 4 52862198 52862198 + Silent SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 4 52862198 52862198 C T SNP LRRC66 ENST00000343457 human ensembl 74_37 -1 known silent c.990 p.T330 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 15 0 0.00 21 2 8.70 MAP3K2 0 genome.wustl.edu 37 2 128075818 128075818 + Missense_Mutation SNP T T A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 2 128075818 128075818 T A SNP MAP3K2 ENST00000344908 human ensembl 74_37 -1 known missense c.1121 p.Y374F 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K2 HGNC ENSG00000169967 tier1 - - 57 0 0.00 22 16 42.11 MAP3K4 0 genome.wustl.edu 37 6 161508782 161508782 + Missense_Mutation SNP G G T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 6 161508782 161508782 G T SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.2619 p.K873N 0.008 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K4 HGNC ENSG00000085511 tier1 - - 37 0 0.00 37 4 9.76 MAP4 0 genome.wustl.edu 37 3 47963311 47963311 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 3 47963311 47963311 G A SNP MAP4 ENST00000360240 human ensembl 74_37 -1 known missense c.473 p.A158V 0.012 NULL pfam_MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 37 0 0.00 30 2 6.25 MCHR1 0 genome.wustl.edu 37 22 41077184 41077184 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 22 41077184 41077184 G A SNP MCHR1 ENST00000249016 human ensembl 74_37 +1 known missense c.521 p.G174D 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn - no_errors MCHR1 HGNC ENSG00000128285 tier1 - - 48 0 0.00 24 13 35.14 MCM3AP 0 genome.wustl.edu 37 21 47703581 47703581 + Missense_Mutation SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 21 47703581 47703581 C T SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.1391 p.R464H 0.980 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 38 0 0.00 34 2 5.56 MDN1 0 genome.wustl.edu 37 6 90393001 90393001 + Frame_Shift_Del DEL G G - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 6 90393001 90393001 G - DEL MDN1 ENST00000369393 human ensembl 74_37 -1 known frame_shift_del c.11952 p.C3985fs 0.990 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 33 0 0.00 27 2 6.90 MIR99A 0 genome.wustl.edu 37 21 17911455 17911455 + RNA SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 21 17911455 17911455 G A SNP MIR99A ENST00000384906 human ensembl 74_37 +1 known rna NULL NULL 0.969 - - - no_errors MIR99A HGNC ENSG00000207638 52 0 0.00 55 4 6.78 MKLN1 0 genome.wustl.edu 37 7 131172442 131172442 + Missense_Mutation SNP C C A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 7 131172442 131172442 C A SNP MKLN1 ENST00000352689 human ensembl 74_37 +1 known missense c.2163 p.S721R 1.000 NULL pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MKLN1 HGNC ENSG00000128585 tier1 - - 70 0 0.00 44 4 8.33 MLH3 0 genome.wustl.edu 37 14 75513750 75513750 + Missense_Mutation SNP G G T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 14 75513750 75513750 G T SNP MLH3 ENST00000355774 human ensembl 74_37 -1 known missense c.2609 p.S870Y 0.094 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 tier1 - - 28 0 0.00 17 3 15.00 MOG 0 genome.wustl.edu 37 6 29627100 29627100 + Splice_Site SNP G G T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 6 29627100 29627100 G T SNP MOG ENST00000376903 human ensembl 74_37 +1 known splice_site c.89-1 e2-1 0.998 - - - no_errors MOG HGNC ENSG00000204655 tier1 - - 29 0 0.00 18 3 14.29 MROH2B 0 genome.wustl.edu 37 5 41051168 41051168 + Missense_Mutation SNP G G T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 5 41051168 41051168 G T SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.1255 p.H419N 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 56 0 0.00 29 19 39.58 MTM1 0 genome.wustl.edu 37 X 149818273 149818273 + Missense_Mutation SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 X 149818273 149818273 C T SNP MTM1 ENST00000370396 human ensembl 74_37 +1 known missense c.952 p.R318W 1.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTM1 HGNC ENSG00000171100 tier1 - - 38 0 0.00 69 5 6.76 MUC5B 0 genome.wustl.edu 37 11 1265736 1265736 + Silent SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 11 1265736 1265736 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.7635 p.S2545 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 33 0 0.00 11 7 38.89 MUC6 0 genome.wustl.edu 37 11 1017187 1017187 + Missense_Mutation SNP T T C TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 11 1017187 1017187 T C SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.5614 p.M1872V 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 - - 455 0 0.00 296 16 5.11 MYO1B 0 genome.wustl.edu 37 2 192280957 192280957 + Missense_Mutation SNP G G T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 2 192280957 192280957 G T SNP MYO1B ENST00000304164 human ensembl 74_37 +1 known missense c.3276 p.E1092D 0.998 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 tier1 - - 51 0 0.00 23 16 41.03 MYO1F 0 genome.wustl.edu 37 19 8587367 8587367 + Missense_Mutation SNP C C G TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 19 8587367 8587367 C G SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known missense c.3114 p.Q1038H 1.000 superfamily_SH3_domain pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 tier1 - - 46 0 0.00 26 15 36.59 MYO1G 0 genome.wustl.edu 37 7 45015193 45015193 + Missense_Mutation SNP G G T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 7 45015193 45015193 G T SNP MYO1G ENST00000258787 human ensembl 74_37 -1 known missense c.454 p.R152S 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO1G HGNC ENSG00000136286 tier1 - - 41 0 0.00 25 4 13.79 NAPRT1 0 genome.wustl.edu 37 8 144659490 144659491 + Frame_Shift_Ins INS - - T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 8 144659490 144659491 - T INS NAPRT1 ENST00000276844 human ensembl 74_37 -1 known frame_shift_ins c.517_516 p.A172fs 0.971:0.015 pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB - no_errors NAPRT1 HGNC ENSG00000147813 tier1 42 0 0.00 22 4 15.38 NAPRT1 0 genome.wustl.edu 37 8 144659491 144659492 + Frame_Shift_Ins INS - - G TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 8 144659491 144659492 - G INS NAPRT1 ENST00000276844 human ensembl 74_37 -1 known frame_shift_ins c.516_515 p.A173fs 0.015:0.852 pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB - no_errors NAPRT1 HGNC ENSG00000147813 tier1 42 0 0.00 22 4 15.38 NBPF10 0 genome.wustl.edu 37 1 145304458 145304458 + Missense_Mutation SNP A A G TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 1 145304458 145304458 A G SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known missense c.1391 p.K464R 0.001 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 tier1 - - 305 0 0.00 361 91 20.09 NCOA3 0 genome.wustl.edu 37 20 46277770 46277770 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 20 46277770 46277770 G A SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known missense c.3568 p.A1190T 1.000 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 26 0 0.00 32 2 5.88 NET1 0 genome.wustl.edu 37 10 5494811 5494811 + RNA DEL A A - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 10 5494811 5494811 A - DEL NET1 ENST00000486354 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NET1 HGNC ENSG00000173848 tier1 37 0 0.00 31 4 11.43 NFE2L2 0 genome.wustl.edu 37 2 178098957 178098957 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 2 178098957 178098957 G A SNP NFE2L2 ENST00000397062 human ensembl 74_37 -1 known missense c.88 p.L30F 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 56 0 0.00 41 13 24.07 NIT2 0 genome.wustl.edu 37 3 100058768 100058768 + Missense_Mutation SNP A A T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 3 100058768 100058768 A T SNP NIT2 ENST00000394140 human ensembl 74_37 +1 known missense c.236 p.Y79F 1.000 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors NIT2 HGNC ENSG00000114021 tier1 - - 66 0 0.00 62 54 46.55 NTRK2 0 genome.wustl.edu 37 9 87635245 87635245 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 9 87635245 87635245 G A SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known missense c.2297 p.G766D 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 28 0 0.00 43 3 6.52 NUP205 0 genome.wustl.edu 37 7 135261145 135261145 + Silent SNP A A G TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 7 135261145 135261145 A G SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known silent c.471 p.T157 0.116 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 73 0 0.00 68 4 5.56 OR5H6 0 genome.wustl.edu 37 3 97983602 97983602 + Silent SNP T T C TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 3 97983602 97983602 T C SNP OR5H6 ENST00000383696 human ensembl 74_37 +1 known silent c.474 p.I158 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H6 HGNC ENSG00000230301 tier1 rs75354046 - 77 0 0.00 134 10 6.94 PCNXL4 0 genome.wustl.edu 37 14 60592519 60592519 + Missense_Mutation SNP C C A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 14 60592519 60592519 C A SNP PCNXL4 ENST00000404681 human ensembl 74_37 +1 known missense c.3245 p.S1082Y 1.000 pfam_Pecanex pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 43 0 0.00 20 2 9.09 POLN 0 genome.wustl.edu 37 4 2073729 2073729 + RNA DEL C C - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 4 2073729 2073729 C - DEL POLN ENST00000503371 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors POLN HGNC ENSG00000130997 tier1 67 0 0.00 36 2 5.26 POLR2J3 0 genome.wustl.edu 37 7 102182057 102182057 + Missense_Mutation SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 7 102182057 102182057 C T SNP POLR2J3 ENST00000486319 human ensembl 74_37 -1 known missense c.280 p.G94R 0.986 NULL superfamily_RBP11-like_dimer - no_errors POLR2J3 HGNC ENSG00000168255 tier1 - - 59 0 0.00 35 6 14.29 PPP1R10 0 genome.wustl.edu 37 6 30573700 30573700 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 6 30573700 30573700 G A SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known missense c.853 p.P285S 1.000 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 94 0 0.00 76 4 5.00 PRKDC 0 genome.wustl.edu 37 8 48733437 48733437 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 8 48733437 48733437 G A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.9176 p.S3059F 0.998 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 tier1 - - 58 0 0.00 60 24 28.57 PRMT2 0 genome.wustl.edu 37 21 48069656 48069656 + Missense_Mutation SNP G G C TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 21 48069656 48069656 G C SNP PRMT2 ENST00000397628 human ensembl 74_37 +1 putative missense c.659 p.R220T 0.747 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PRMT2 HGNC ENSG00000160310 tier1 - - 45 0 0.00 40 30 42.86 PRR3 0 genome.wustl.edu 37 6 30531428 30531428 + RNA DEL T T - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 6 30531428 30531428 T - DEL PRR3 ENST00000481741 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors PRR3 HGNC ENSG00000204576 tier1 27 0 0.00 24 3 11.11 PTER 0 genome.wustl.edu 37 10 16553247 16553247 + Missense_Mutation SNP T T G TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 10 16553247 16553247 T G SNP PTER ENST00000298942 human ensembl 74_37 +1 known missense c.1042 p.F348V 1.000 NULL pfam_Aryldialkylphosphatase,pfam_TatD_family - no_errors PTER HGNC ENSG00000165983 tier1 - - 41 0 0.00 18 21 53.85 PTPLA 0 genome.wustl.edu 37 10 17646048 17646049 + Splice_Site INS - - A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 10 17646048 17646049 - A INS PTPLA ENST00000361271 human ensembl 74_37 -1 known splice_site_ins c.258-3_258-2 e2-2 1.000:0.005 - - - no_errors PTPLA HGNC ENSG00000165996 tier1 30 0 0.00 25 2 7.41 PTPRQ 0 genome.wustl.edu 37 12 80982225 80982225 + Missense_Mutation SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 12 80982225 80982225 C T SNP PTPRQ ENST00000266688 human ensembl 74_37 +1 known missense c.4591 p.P1531S 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,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 PTPRQ HGNC ENSG00000139304 tier1 - - 33 0 0.00 24 3 11.11 PTTG1IP 0 genome.wustl.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 21 46276194 46276196 GCA - DEL PTTG1IP ENST00000330938 human ensembl 74_37 -1 known in_frame_del c.363_361 p.C121in_frame_del 1.000:1.000:1.000 NULL smart_Plexin-like_fold - no_errors PTTG1IP HGNC ENSG00000183255 tier1 40 0 0.00 42 3 6.67 PUM1 0 genome.wustl.edu 37 1 31418206 31418206 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 1 31418206 31418206 G A SNP PUM1 ENST00000426105 human ensembl 74_37 -1 known missense c.2981 p.A994V 1.000 superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC ENSG00000134644 50 0 0.00 38 2 5.00 RAB32 0 genome.wustl.edu 37 6 146870631 146870632 + Frame_Shift_Ins INS - - T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 6 146870631 146870632 - T INS RAB32 ENST00000367495 human ensembl 74_37 +1 known frame_shift_ins c.282_283 p.Y94fs 0.036:0.999 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB32 HGNC ENSG00000118508 tier1 86 0 0.00 49 24 32.88 RAB36 0 genome.wustl.edu 37 22 23503091 23503091 + Silent SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 22 23503091 23503091 C T SNP RAB36 ENST00000263116 human ensembl 74_37 +1 known silent c.843 p.S281 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB36 HGNC ENSG00000100228 38 0 0.00 29 3 9.38 RAB3C 0 genome.wustl.edu 37 5 58021834 58021834 + Silent SNP A A C TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 5 58021834 58021834 A C SNP RAB3C ENST00000282878 human ensembl 74_37 +1 known silent c.258 p.T86 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB3C HGNC ENSG00000152932 tier1 - - 31 0 0.00 18 22 55.00 REV3L 0 genome.wustl.edu 37 6 111654555 111654555 + Missense_Mutation SNP T T C TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 6 111654555 111654555 T C SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.7696 p.M2566V 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 tier1 - - 53 0 0.00 40 15 27.27 RS1 0 genome.wustl.edu 37 X 18665389 18665389 + Missense_Mutation SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 X 18665389 18665389 C T SNP RS1 ENST00000379984 human ensembl 74_37 -1 known missense c.248 p.C83Y 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors RS1 HGNC ENSG00000102104 tier1 - - 44 0 0.00 31 4 11.43 S100PBP 0 genome.wustl.edu 37 1 33292385 33292385 + Missense_Mutation SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 1 33292385 33292385 C T SNP S100PBP ENST00000373475 human ensembl 74_37 +1 known missense c.685 p.P229S 0.009 NULL NULL - no_errors S100PBP HGNC ENSG00000116497 tier1 - - 29 0 0.00 27 4 12.90 SCAI 0 genome.wustl.edu 37 9 127765857 127765857 + RNA DEL A A - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 9 127765857 127765857 A - DEL SCAI ENST00000487795 human ensembl 74_37 -1 known rna NULL NULL 0.025 - - - no_errors SCAI HGNC ENSG00000173611 tier1 24 0 0.00 47 4 7.84 SCD 0 genome.wustl.edu 37 10 102107836 102107838 + In_Frame_Del DEL ACC ACC - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 ACC ACC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 10 102107836 102107838 ACC - DEL SCD ENST00000370355 human ensembl 74_37 +1 known in_frame_del c.43_45 p.T18in_frame_del 0.998:0.990:0.094 NULL pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core - no_errors SCD HGNC ENSG00000099194 tier1 20 0 0.00 25 2 7.41 SCN4A 0 genome.wustl.edu 37 17 62022996 62022996 + Silent SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 17 62022996 62022996 C T SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known silent c.3444 p.V1148 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 tier1 - - 36 0 0.00 6 14 70.00 SEC14L1 0 genome.wustl.edu 37 17 75210142 75210142 + RNA SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 17 75210142 75210142 G A SNP SEC14L1 ENST00000588721 human ensembl 74_37 +1 known rna NULL NULL 0.284 - - - no_errors SEC14L1 HGNC ENSG00000129657 tier1 - - 43 0 0.00 23 21 47.73 SENP6 0 genome.wustl.edu 37 6 76388386 76388386 + Missense_Mutation SNP A A G TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 6 76388386 76388386 A G SNP SENP6 ENST00000370014 human ensembl 74_37 +1 known missense c.1936 p.I646V 0.988 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP6 HGNC ENSG00000112701 tier1 - - 63 0 0.00 31 20 39.22 SLCO6A1 0 genome.wustl.edu 37 5 101735276 101735276 + Silent SNP G G T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 5 101735276 101735276 G T SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known silent c.1797 p.I599 0.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 48 0 0.00 44 3 6.38 SOGA2 0 genome.wustl.edu 37 18 8793003 8793004 + Frame_Shift_Ins INS - - C TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 18 8793003 8793004 - C INS SOGA2 ENST00000359865 human ensembl 74_37 +1 known frame_shift_ins c.1895_1896 p.V635fs 0.026:0.015 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 tier1 24 0 0.00 23 12 34.29 SOWAHD 0 genome.wustl.edu 37 X 118893519 118893519 + Missense_Mutation SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 X 118893519 118893519 C T SNP SOWAHD ENST00000343905 human ensembl 74_37 +1 known missense c.889 p.R297W 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SOWAHD HGNC ENSG00000187808 tier1 - - 17 0 0.00 24 10 29.41 SPATA16 0 genome.wustl.edu 37 3 172835311 172835311 + Nonsense_Mutation SNP C C A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 3 172835311 172835311 C A SNP SPATA16 ENST00000351008 human ensembl 74_37 -1 known nonsense c.211 p.E71* 1.000 NULL NULL - no_errors SPATA16 HGNC ENSG00000144962 tier1 - - 65 0 0.00 69 22 24.18 STAMBP 0 genome.wustl.edu 37 2 74072312 74072312 + Missense_Mutation SNP T T C TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 2 74072312 74072312 T C SNP STAMBP ENST00000339566 human ensembl 74_37 +1 known missense c.298 p.F100L 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBP HGNC ENSG00000124356 tier1 - - 55 0 0.00 28 20 41.67 SYT11 0 genome.wustl.edu 37 1 155838231 155838231 + Silent SNP G G T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 1 155838231 155838231 G T SNP SYT11 ENST00000368324 human ensembl 74_37 +1 known silent c.510 p.P170 0.129 superfamily_C2_dom,prints_Synaptotagmin pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT11 HGNC ENSG00000132718 22 0 0.00 36 4 10.00 TAF1D 0 genome.wustl.edu 37 11 93466281 93466281 + RNA SNP T T A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 11 93466281 93466281 T A SNP TAF1D ENST00000530089 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TAF1D HGNC ENSG00000166012 tier1 - - 86 0 0.00 39 31 44.29 TDRD3 0 genome.wustl.edu 37 13 61034813 61034813 + RNA SNP T T G TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 13 61034813 61034813 T G SNP TDRD3 ENST00000463109 human ensembl 74_37 +1 known rna NULL NULL 0.274 - - - no_errors TDRD3 HGNC ENSG00000083544 tier1 - - 24 0 0.00 12 7 36.84 TGIF1 0 genome.wustl.edu 37 18 3456685 3456685 + Missense_Mutation SNP A A G TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 18 3456685 3456685 A G SNP TGIF1 ENST00000551402 human ensembl 74_37 +1 putative missense c.350 p.K117R 0.000 NULL superfamily_Homeodomain-like,smart_Homeobox_dom - no_errors TGIF1 HGNC ENSG00000177426 20 0 0.00 17 8 32.00 TJAP1 0 genome.wustl.edu 37 6 43469320 43469320 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 6 43469320 43469320 G A SNP TJAP1 ENST00000372445 human ensembl 74_37 +1 known missense c.185 p.R62H 1.000 NULL NULL - no_errors TJAP1 HGNC ENSG00000137221 tier1 - - 24 0 0.00 12 10 45.45 TP53 0 genome.wustl.edu 37 17 7578176 7578176 + Splice_Site SNP C C A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 17 7578176 7578176 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.672+1 e5+1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 44 0 0.00 7 27 79.41 TRMT10C 0 genome.wustl.edu 37 3 101284009 101284009 + Frame_Shift_Del DEL A A - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 3 101284009 101284009 A - DEL TRMT10C ENST00000309922 human ensembl 74_37 +1 known frame_shift_del c.384 p.K131fs 0.514 NULL pfam_tRNA_m1G_MeTrfase - no_errors TRMT10C HGNC ENSG00000174173 tier1 18 0 0.00 28 3 9.68 TTC37 0 genome.wustl.edu 37 5 94803579 94803579 + Silent SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 5 94803579 94803579 C T SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known silent c.4611 p.E1537 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 22 0 0.00 32 2 5.88 TTN 0 genome.wustl.edu 37 2 179647001 179647001 + Silent SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 2 179647001 179647001 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.3318 p.G1106 0.021 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 rs141768043 - 30 0 0.00 23 14 37.84 UBR4 0 genome.wustl.edu 37 1 19487548 19487548 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 1 19487548 19487548 G A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.5269 p.R1757C 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 33 0 0.00 28 2 6.67 ULK3 0 genome.wustl.edu 37 15 75132906 75132906 + Frame_Shift_Del DEL G G - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 15 75132906 75132906 G - DEL ULK3 ENST00000440863 human ensembl 74_37 -1 known frame_shift_del c.546 p.E183fs 0.002 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIT,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_MIT,pfscan_Prot_kinase_dom - no_errors ULK3 HGNC ENSG00000140474 tier1 18 0 0.00 17 2 10.53 UNC79 0 genome.wustl.edu 37 14 94155164 94155164 + Frame_Shift_Del DEL C C - TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 14 94155164 94155164 C - DEL UNC79 ENST00000553484 human ensembl 74_37 +1 known frame_shift_del c.7246 p.S2418fs 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 tier1 26 0 0.00 19 2 9.52 UTY 0 genome.wustl.edu 37 Y 15448217 15448218 + Splice_Site INS - - A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 Y 15448217 15448218 0 A INS UTY ENST00000382896 human ensembl 74_37 -1 known splice_site_ins c.1906-3_1906-2 e17-2 0.999:0.923 - - - no_errors UTY HGNC ENSG00000183878 13 0 0.00 6 2 25.00 VN1R1 0 genome.wustl.edu 37 19 57967427 57967427 + Missense_Mutation SNP T T A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 19 57967427 57967427 T A SNP VN1R1 ENST00000321039 human ensembl 74_37 -1 known missense c.428 p.N143I 0.000 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R1 HGNC ENSG00000178201 tier1 - - 33 0 0.00 42 10 19.23 VPS13C 0 genome.wustl.edu 37 15 62147075 62147075 + Missense_Mutation SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 15 62147075 62147075 C T SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.11155 p.A3719T 0.997 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 tier1 - - 69 0 0.00 62 4 6.06 VWA8 0 genome.wustl.edu 37 13 42161713 42161713 + Nonsense_Mutation SNP C C A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 13 42161713 42161713 C A SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known nonsense c.5206 p.E1736* 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 65 0 0.00 48 4 7.69 VWF 0 genome.wustl.edu 37 12 6153592 6153592 + Silent SNP G G T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 12 6153592 6153592 G T SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.2307 p.P769 0.994 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 - - 23 0 0.00 8 19 70.37 WNK1 0 genome.wustl.edu 37 12 970296 970297 + Frame_Shift_Ins INS - - A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 12 970296 970297 - A INS WNK1 ENST00000530271 human ensembl 74_37 +1 known frame_shift_ins c.1738_1739 p.K584fs 1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 tier1 25 0 0.00 24 3 11.11 YTHDF3 0 genome.wustl.edu 37 8 64124416 64124417 + RNA INS - - A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 8 64124416 64124417 - A INS YTHDF3 ENST00000521674 human ensembl 74_37 +1 known rna NULL NULL 0.016:0.010 - - - no_errors YTHDF3 HGNC ENSG00000185728 tier1 31 0 0.00 40 7 14.89 ZBTB14 0 genome.wustl.edu 37 18 5291775 5291775 + Nonsense_Mutation SNP A A C TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 18 5291775 5291775 A C SNP ZBTB14 ENST00000357006 human ensembl 74_37 -1 known nonsense c.432 p.Y144* 0.993 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB14 HGNC ENSG00000198081 tier1 - - 21 0 0.00 24 6 20.00 ZBTB7A 0 genome.wustl.edu 37 19 4054661 4054661 + Silent SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 19 4054661 4054661 C T SNP ZBTB7A ENST00000322357 human ensembl 74_37 -1 known silent c.570 p.A190 0.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7A HGNC ENSG00000178951 tier1 - - 169 0 0.00 61 41 40.20 ZNF439 0 genome.wustl.edu 37 19 11979137 11979137 + Missense_Mutation SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 19 11979137 11979137 C T SNP ZNF439 ENST00000304030 human ensembl 74_37 +1 known missense c.1253 p.A418V 0.535 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 ZNF439 HGNC ENSG00000171291 tier1 - - 60 0 0.00 62 5 7.46 ZNF678 0 genome.wustl.edu 37 1 227842427 227842427 + Missense_Mutation SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 1 227842427 227842427 G A SNP ZNF678 ENST00000397097 human ensembl 74_37 +1 known missense c.641 p.G214D 0.999 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 ZNF678 HGNC ENSG00000181450 13 0 0.00 22 6 21.43 ZNF679 0 genome.wustl.edu 37 7 63726569 63726570 + Frame_Shift_Ins INS - - A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 7 63726569 63726570 - A INS ZNF679 ENST00000255746 human ensembl 74_37 +1 known frame_shift_ins c.558_559 p.Y188fs 0.332:0.014 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF679 HGNC ENSG00000197123 tier1 80 0 0.00 50 19 27.54 ZNF732 0 genome.wustl.edu 37 4 265855 265855 + Missense_Mutation SNP G G T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 4 265855 265855 G T SNP ZNF732 ENST00000419098 human ensembl 74_37 -1 known missense c.791 p.T264N 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF732 HGNC ENSG00000186777 tier1 - - 30 0 0.00 17 9 34.62 ZNF99 0 genome.wustl.edu 37 19 22939048 22939048 + Missense_Mutation SNP G G T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 19 22939048 22939048 G T SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.3073 p.L1025I 0.021 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 ZNF99 HGNC ENSG00000213973 29 0 0.00 29 4 12.12 ZNHIT1 0 genome.wustl.edu 37 7 100867224 100867224 + Silent SNP G G A TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fff223fa-957e-4a24-a5b0-fd3f9efba397 e142853b-0d36-4f63-ba19-54b80ed65115 7 100867224 100867224 G A SNP ZNHIT1 ENST00000305105 human ensembl 74_37 +1 known silent c.450 p.L150 1.000 NULL pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT1 HGNC ENSG00000106400 tier1 - - 32 0 0.00 24 9 27.27