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 ALPK3 0 genome.wustl.edu 37 15 85406098 85406098 + Silent SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 15 85406098 85406098 C T SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known silent c.4968 p.P1656 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 tier1 - - 63 0 0.00 32 13 28.89 APOBR 0 genome.wustl.edu 37 16 28507417 28507417 + Missense_Mutation SNP A A G TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 16 28507417 28507417 A G SNP APOBR ENST00000564831 human ensembl 74_37 +1 known missense c.1055 p.E352G 0.010 NULL NULL - no_errors APOBR HGNC ENSG00000184730 tier1 rs365499 - 30 0 0.00 28 4 12.50 ARPC1B 0 genome.wustl.edu 37 7 98992032 98992032 + RNA SNP A A C TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 7 98992032 98992032 A C SNP ARPC1B ENST00000463078 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ARPC1B HGNC ENSG00000130429 tier1 - - 69 0 0.00 53 16 22.86 ASAP2 0 genome.wustl.edu 37 2 9437513 9437513 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 2 9437513 9437513 G T SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known missense c.284 p.G95V 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 tier1 - - 58 0 0.00 50 4 7.41 ASTE1 0 genome.wustl.edu 37 3 130735055 130735055 + Missense_Mutation SNP A A G TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 3 130735055 130735055 A G SNP ASTE1 ENST00000264992 human ensembl 74_37 -1 known missense c.1642 p.C548R 1.000 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 tier1 - - 51 0 0.00 43 8 15.69 ATP2A2 0 genome.wustl.edu 37 12 110777494 110777494 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 12 110777494 110777494 C T SNP ATP2A2 ENST00000539276 human ensembl 74_37 +1 known missense c.1729 p.L577F 1.000 superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A2 HGNC ENSG00000174437 tier1 - - 71 0 0.00 60 8 11.76 CACNA1E 0 genome.wustl.edu 37 1 181453096 181453096 + Silent SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 1 181453096 181453096 C T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known silent c.216 p.F72 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 81 0 0.00 65 17 20.73 CADPS2 0 genome.wustl.edu 37 7 122194686 122194686 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 7 122194686 122194686 C T SNP CADPS2 ENST00000449022 human ensembl 74_37 -1 known missense c.1393 p.V465I 0.997 superfamily_C2_dom pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS2 HGNC ENSG00000081803 tier1 - - 74 0 0.00 76 13 14.61 CAMK1G 0 genome.wustl.edu 37 1 209768386 209768386 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 1 209768386 209768386 C T SNP CAMK1G ENST00000009105 human ensembl 74_37 +1 known missense c.58 p.R20W 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK1G HGNC ENSG00000008118 tier1 - - 60 0 0.00 71 19 21.11 CBFA2T3 0 genome.wustl.edu 37 16 88947727 88947727 + Silent SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 16 88947727 88947727 G A SNP CBFA2T3 ENST00000268679 human ensembl 74_37 -1 known silent c.1374 p.S458 0.997 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 tier1 - - 48 0 0.00 20 7 25.93 CDH5 0 genome.wustl.edu 37 16 66423357 66423357 + Missense_Mutation SNP A A G TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 16 66423357 66423357 A G SNP CDH5 ENST00000341529 human ensembl 74_37 +1 known missense c.713 p.D238G 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC ENSG00000179776 tier1 - - 51 0 0.00 50 7 12.28 CDKN2A 0 genome.wustl.edu 37 9 21974695 21974695 + Nonsense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 9 21974695 21974695 G T SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known nonsense c.132 p.Y44* 0.020 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 tier1 - - 30 0 0.00 8 4 33.33 CDKN2D 0 genome.wustl.edu 37 19 10677846 10677846 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 19 10677846 10677846 G T SNP CDKN2D ENST00000335766 human ensembl 74_37 -1 known missense c.389 p.S130Y 0.827 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2D HGNC ENSG00000129355 tier1 - - 45 0 0.00 28 8 22.22 CHEK2 0 genome.wustl.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 22 29091840 29091840 T C SNP CHEK2 ENST00000382580 human ensembl 74_37 -1 known missense c.1246 p.K416E 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_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom - no_errors CHEK2 HGNC ENSG00000183765 55 0 0.00 62 4 6.06 CHSY1 0 genome.wustl.edu 37 15 101718692 101718692 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 15 101718692 101718692 C T SNP CHSY1 ENST00000254190 human ensembl 74_37 -1 known missense c.1310 p.R437H 0.997 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY1 HGNC ENSG00000131873 tier1 - - 55 0 0.00 61 5 7.58 CLEC18A 0 genome.wustl.edu 37 16 69988452 69988452 + Silent SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 16 69988452 69988452 C T SNP CLEC18A ENST00000449317 human ensembl 74_37 +1 known silent c.432 p.N144 0.211 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1 - no_errors CLEC18A HGNC ENSG00000157322 64 0 0.00 49 5 9.26 CNTLN 0 genome.wustl.edu 37 9 17330768 17330768 + Nonsense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 9 17330768 17330768 C T SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known nonsense c.1480 p.R494* 0.043 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 tier1 - - 39 0 0.00 29 9 23.68 CRB2 0 genome.wustl.edu 37 9 126118544 126118544 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 9 126118544 126118544 C T SNP CRB2 ENST00000373631 human ensembl 74_37 +1 known missense c.5 p.A2V 1.000 NULL pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_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 CRB2 HGNC ENSG00000148204 tier1 rs201425854 - 61 0 0.00 55 33 37.50 DCDC1 0 genome.wustl.edu 37 11 31149099 31149099 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 11 31149099 31149099 G T SNP DCDC1 ENST00000597505 human ensembl 74_37 -1 putative missense c.1402 p.Q468K 1.000 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 145 0 0.00 104 17 14.05 DCHS2 0 genome.wustl.edu 37 4 155241544 155241544 + Silent SNP T T C TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 4 155241544 155241544 T C SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known silent c.3642 p.L1214 0.772 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 82 0 0.00 70 16 18.60 DDX27 0 genome.wustl.edu 37 20 47860465 47860465 + RNA DEL A A - TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 20 47860465 47860465 A - DEL DDX27 ENST00000471144 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors DDX27 HGNC ENSG00000124228 tier1 22 0 0.00 27 2 6.90 DDX60L 0 genome.wustl.edu 37 4 169351738 169351738 + Missense_Mutation SNP T T A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 4 169351738 169351738 T A SNP DDX60L ENST00000260184 human ensembl 74_37 -1 known missense c.1568 p.Y523F 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60L HGNC ENSG00000181381 tier1 - - 41 0 0.00 40 5 11.11 DGCR9 0 genome.wustl.edu 37 22 19005960 19005960 + RNA SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 22 19005960 19005960 C T SNP DGCR9 ENST00000609630 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DGCR9 HGNC ENSG00000273032 tier1 - - 95 0 0.00 89 32 26.45 DHH 0 genome.wustl.edu 37 12 49485080 49485080 + Silent SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 12 49485080 49485080 G A SNP DHH ENST00000266991 human ensembl 74_37 -1 known silent c.396 p.D132 0.995 pfam_Hedgehog_signaling_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,pirsf_Hedgehog,prints_Hedgehog pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,prints_Hedgehog - no_errors DHH HGNC ENSG00000139549 tier1 - - 91 0 0.00 46 4 8.00 DLX4 0 genome.wustl.edu 37 17 48050513 48050513 + Silent SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 17 48050513 48050513 G A SNP DLX4 ENST00000240306 human ensembl 74_37 +1 known silent c.360 p.P120 0.001 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors DLX4 HGNC ENSG00000108813 tier1 - - 60 0 0.00 49 15 23.44 DNER 0 genome.wustl.edu 37 2 230450599 230450599 + Silent SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 2 230450599 230450599 G A SNP DNER ENST00000341772 human ensembl 74_37 -1 known silent c.822 p.L274 0.000 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 tier1 - - 43 0 0.00 38 13 25.49 DPF3 0 genome.wustl.edu 37 14 73141063 73141063 + Silent SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 14 73141063 73141063 C T SNP DPF3 ENST00000366353 human ensembl 74_37 -1 known silent c.921 p.P307 0.906 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DPF3 HGNC ENSG00000205683 tier1 - - 63 0 0.00 67 14 17.28 EEF1E1 0 genome.wustl.edu 37 6 8090462 8090462 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 6 8090462 8090462 G T SNP EEF1E1 ENST00000379715 human ensembl 74_37 -1 known missense c.341 p.T114K 1.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like - no_errors EEF1E1 HGNC ENSG00000124802 tier1 - - 61 0 0.00 68 4 5.56 EHF 0 genome.wustl.edu 37 11 34680266 34680266 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 11 34680266 34680266 G A SNP EHF ENST00000257831 human ensembl 74_37 +1 known missense c.794 p.R265Q 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors EHF HGNC ENSG00000135373 45 0 0.00 31 3 8.82 ELK3 0 genome.wustl.edu 37 12 96661219 96661219 + RNA SNP A A G TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 12 96661219 96661219 A G SNP ELK3 ENST00000549529 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors ELK3 HGNC ENSG00000111145 tier1 - - 44 0 0.00 19 10 34.48 ELP5 0 genome.wustl.edu 37 17 7161975 7161975 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 17 7161975 7161975 G T SNP ELP5 ENST00000354429 human ensembl 74_37 +1 known missense c.708 p.Q236H 0.539 pfam_Elp5 pfam_Elp5 - no_errors ELP5 HGNC ENSG00000170291 tier1 - - 33 0 0.00 38 7 15.56 ENSG00000205611 0 genome.wustl.edu 37 20 29516389 29516389 + RNA SNP A A G TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 20 29516389 29516389 A G SNP ENSG00000205611 ENST00000380888 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-610C12.4 Clone_based_vega_gene ENSG00000205611 tier1 - - 41 0 0.00 27 12 30.77 ENSG00000234719 0 genome.wustl.edu 37 16 12027708 12027708 + Missense_Mutation SNP C C G TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 16 12027708 12027708 C G SNP ENSG00000234719 ENST00000399147 human ensembl 74_37 -1 putative missense c.266 p.R89T 0.325 NULL NULL - no_errors RP11-166B2.1 Clone_based_vega_gene ENSG00000234719 tier1 - - 327 0 0.00 237 61 20.47 ENSG00000253701 0 genome.wustl.edu 37 14 106170814 106170814 + RNA SNP G G C TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 14 106170814 106170814 G C SNP ENSG00000253701 ENST00000497872 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AL928768.3 Clone_based_vega_gene ENSG00000253701 tier1 - - 121 0 0.00 79 16 16.84 ENSG00000257607 0 genome.wustl.edu 37 7 1098297 1098297 + RNA SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 7 1098297 1098297 C T SNP ENSG00000257607 ENST00000549241 human ensembl 74_37 -1 known rna NULL NULL 0.027 - - - no_errors RP11-449P15.1 Clone_based_vega_gene ENSG00000257607 tier1 - - 19 0 0.00 9 4 30.77 ENSG00000262136 0 genome.wustl.edu 37 16 69776090 69776090 + RNA SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 16 69776090 69776090 G T SNP ENSG00000262136 ENST00000575838 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2033A16.3 Clone_based_vega_gene ENSG00000262136 tier1 - - 25 0 0.00 34 12 26.09 ENTPD2 0 genome.wustl.edu 37 9 139946015 139946016 + Frame_Shift_Del DEL TC TC - TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 9 139946015 139946016 TC - DEL ENTPD2 ENST00000355097 human ensembl 74_37 -1 known frame_shift_del c.333_332 p.R111fs 0.990:0.993 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD2 HGNC ENSG00000054179 tier1 29 0 0.00 16 9 36.00 ENTPD4 0 genome.wustl.edu 37 8 23306283 23306283 + Silent SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 8 23306283 23306283 G T SNP ENTPD4 ENST00000358689 human ensembl 74_37 -1 known silent c.178 p.R60 0.045 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC ENSG00000197217 47 0 0.00 32 2 5.88 EPYC 0 genome.wustl.edu 37 12 91396276 91396276 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 12 91396276 91396276 G T SNP EPYC ENST00000261172 human ensembl 74_37 -1 known missense c.67 p.L23I 0.001 NULL pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors EPYC HGNC ENSG00000083782 tier1 - - 84 0 0.00 72 4 5.26 ERBB4 0 genome.wustl.edu 37 2 212530156 212530156 + Missense_Mutation SNP T T C TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 2 212530156 212530156 T C SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.1763 p.N588S 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 tier1 - - 146 0 0.00 140 34 19.54 ERCC6L2 0 genome.wustl.edu 37 9 98638319 98638319 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 9 98638319 98638319 G T SNP ERCC6L2 ENST00000288985 human ensembl 74_37 +1 novel missense c.32 p.R11L 0.026 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 tier1 - - 35 0 0.00 34 17 33.33 ERVMER61-1 0 genome.wustl.edu 37 1 187610544 187610544 + RNA SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 1 187610544 187610544 C T SNP ERVMER61-1 ENST00000429725 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors ERVMER61-1 HGNC ENSG00000230426 tier1 - - 40 0 0.00 45 4 8.16 ESRRB 0 genome.wustl.edu 37 14 76948947 76948947 + Missense_Mutation SNP A A C TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 14 76948947 76948947 A C SNP ESRRB ENST00000380887 human ensembl 74_37 +1 known missense c.632 p.K211T 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESRRB HGNC ENSG00000119715 65 0 0.00 43 3 6.52 FAM157C 0 genome.wustl.edu 37 16 90229167 90229167 + RNA SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 16 90229167 90229167 C T SNP FAM157C ENST00000570230 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM157C HGNC ENSG00000260528 38 0 0.00 23 3 11.54 FAM170A 0 genome.wustl.edu 37 5 118970289 118970289 + Missense_Mutation SNP G G C TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 5 118970289 118970289 G C SNP FAM170A ENST00000515256 human ensembl 74_37 +1 known missense c.846 p.E282D 0.000 NULL NULL - no_errors FAM170A HGNC ENSG00000164334 25 0 0.00 16 4 20.00 FAM193A 0 genome.wustl.edu 37 4 2674072 2674072 + Nonsense_Mutation SNP T T G TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 4 2674072 2674072 T G SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known nonsense c.1431 p.Y477* 0.065 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 tier1 - - 42 0 0.00 24 16 40.00 FAM230B 0 genome.wustl.edu 37 22 21539182 21539182 + RNA SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 22 21539182 21539182 G A SNP FAM230B ENST00000451257 human ensembl 74_37 +1 known rna NULL NULL 0.591 - - - no_errors FAM230B HGNC ENSG00000215498 tier1 - - 38 0 0.00 35 4 10.26 FMNL3 0 genome.wustl.edu 37 12 50050234 50050234 + Silent SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 12 50050234 50050234 G T SNP FMNL3 ENST00000293590 human ensembl 74_37 -1 known silent c.838 p.R280 1.000 superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL3 HGNC ENSG00000161791 tier1 - - 85 0 0.00 67 5 6.94 FOLR3 0 genome.wustl.edu 37 11 71847017 71847017 + Missense_Mutation SNP A A G TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 11 71847017 71847017 A G SNP FOLR3 ENST00000456237 human ensembl 74_37 +1 known missense c.19 p.M7V 0.000 NULL pfam_Folate_rcpt-like - no_errors FOLR3 HGNC ENSG00000110203 tier1 - - 69 0 0.00 71 5 6.58 FOXA2 0 genome.wustl.edu 37 20 22563091 22563091 + Silent SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 20 22563091 22563091 G A SNP FOXA2 ENST00000419308 human ensembl 74_37 -1 known silent c.789 p.C263 1.000 NULL pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA2 HGNC ENSG00000125798 37 0 0.00 28 6 17.65 FSTL4 0 genome.wustl.edu 37 5 132553042 132553042 + Frame_Shift_Del DEL T T - TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 5 132553042 132553042 T 0 DEL FSTL4 ENST00000265342 human ensembl 74_37 -1 known frame_shift_del c.1487 p.N496fs 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 34 0 0.00 49 9 15.52 GABRA4 0 genome.wustl.edu 37 4 46995416 46995416 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 4 46995416 46995416 G A SNP GABRA4 ENST00000264318 human ensembl 74_37 -1 known missense c.26 p.A9V 1.000 NULL pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 tier1 - - 61 0 0.00 65 23 25.84 GATA2 0 genome.wustl.edu 37 3 128205135 128205135 + Frame_Shift_Del DEL T T - TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 3 128205135 128205135 T - DEL GATA2 ENST00000341105 human ensembl 74_37 -1 known frame_shift_del c.306 p.A103fs 0.998 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA2 HGNC ENSG00000179348 tier1 9 0 0.00 4 2 33.33 GCSHP3 0 genome.wustl.edu 37 2 206980714 206980715 + RNA INS - - T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 2 206980714 206980715 - T INS GCSHP3 ENST00000453039 human ensembl 74_37 +1 known rna NULL NULL 0.025:0.033 - - - no_errors AC007383.4 Clone_based_vega_gene ENSG00000231955 tier1 84 0 0.00 90 13 12.62 GOPC 0 genome.wustl.edu 37 6 117894703 117894703 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 6 117894703 117894703 C T SNP GOPC ENST00000368498 human ensembl 74_37 -1 known missense c.743 p.R248H 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GOPC HGNC ENSG00000047932 tier1 - - 136 0 0.00 117 21 15.22 GPD2 0 genome.wustl.edu 37 2 157426715 157426715 + Silent SNP A A G TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 2 157426715 157426715 A G SNP GPD2 ENST00000310454 human ensembl 74_37 +1 known silent c.1593 p.P531 0.951 NULL pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep - no_errors GPD2 HGNC ENSG00000115159 tier1 - - 48 0 0.00 40 6 13.04 GPR98 0 genome.wustl.edu 37 5 89968456 89968456 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 5 89968456 89968456 G A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.4846 p.E1616K 1.000 pfam_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 75 0 0.00 56 13 18.84 GRB14 0 genome.wustl.edu 37 2 165353533 165353533 + Missense_Mutation SNP T T C TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 2 165353533 165353533 T C SNP GRB14 ENST00000263915 human ensembl 74_37 -1 known missense c.1367 p.Q456R 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC ENSG00000115290 tier1 - - 55 0 0.00 57 16 21.92 HECW1 0 genome.wustl.edu 37 7 43351452 43351452 + Nonsense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 7 43351452 43351452 C T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known nonsense c.118 p.R40* 0.987 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 tier1 - - 48 0 0.00 34 10 22.73 HLA-J 0 genome.wustl.edu 37 6 29977317 29977317 + RNA SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 6 29977317 29977317 G A SNP HLA-J ENST00000462773 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors HLA-J HGNC ENSG00000204622 57 0 0.00 50 5 9.09 HLA-J 0 genome.wustl.edu 37 6 29977327 29977327 + RNA SNP T T C TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 6 29977327 29977327 T C SNP HLA-J ENST00000462773 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors HLA-J HGNC ENSG00000204622 58 0 0.00 47 5 9.62 HLA-J 0 genome.wustl.edu 37 6 29977342 29977342 + RNA SNP A A T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 6 29977342 29977342 A T SNP HLA-J ENST00000462773 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors HLA-J HGNC ENSG00000204622 50 0 0.00 43 5 10.42 INTS3 0 genome.wustl.edu 37 1 153746474 153746475 + RNA INS - - T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 1 153746474 153746475 - T INS INTS3 ENST00000476843 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors INTS3 HGNC ENSG00000143624 tier1 27 0 0.00 18 3 14.29 ITGA4 0 genome.wustl.edu 37 2 182339903 182339904 + Frame_Shift_Ins INS - - A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 2 182339903 182339904 - A INS ITGA4 ENST00000397033 human ensembl 74_37 +1 known frame_shift_ins c.444_445 p.N149fs 1.000:1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 tier1 69 0 0.00 71 13 15.48 KCNA6 0 genome.wustl.edu 37 12 4919422 4919422 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 12 4919422 4919422 G A SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known missense c.215 p.R72Q 0.983 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 tier1 - - 119 0 0.00 94 35 26.92 KIF4B 0 genome.wustl.edu 37 5 154393463 154393463 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 5 154393463 154393463 G A SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.44 p.R15H 0.995 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 tier1 rs200942753 - 98 0 0.00 97 8 7.62 KIF6 0 genome.wustl.edu 37 6 39602636 39602636 + Missense_Mutation SNP C C A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 6 39602636 39602636 C A SNP KIF6 ENST00000287152 human ensembl 74_37 -1 known missense c.498 p.L166F 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 tier1 - - 56 0 0.00 57 8 12.31 KMT2A 0 genome.wustl.edu 37 11 118374955 118374955 + Missense_Mutation SNP T T C TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 11 118374955 118374955 T C SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.8339 p.M2780T 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 47 0 0.00 27 21 43.75 KRT9 0 genome.wustl.edu 37 17 39723706 39723706 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 17 39723706 39723706 G A SNP KRT9 ENST00000246662 human ensembl 74_37 -1 known missense c.1691 p.S564F 0.147 NULL pfam_IF,prints_Keratin_I - no_errors KRT9 HGNC ENSG00000171403 tier1 - - 179 0 0.00 127 27 17.53 KRTAP13-1 0 genome.wustl.edu 37 21 31768834 31768834 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 21 31768834 31768834 G A SNP KRTAP13-1 ENST00000355459 human ensembl 74_37 +1 known missense c.430 p.V144I 0.001 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-1 HGNC ENSG00000198390 tier1 - - 112 0 0.00 88 15 14.56 KRTAP17-1 0 genome.wustl.edu 37 17 39471766 39471767 + Frame_Shift_Ins INS - - C TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 17 39471766 39471767 - C INS KRTAP17-1 ENST00000334202 human ensembl 74_37 -1 known frame_shift_ins c.137_136 p.S46fs 0.000:0.001 NULL NULL - no_errors KRTAP17-1 HGNC ENSG00000186860 tier1 20 0 0.00 27 5 15.62 LIFR 0 genome.wustl.edu 37 5 38484942 38484942 + Silent SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 5 38484942 38484942 G T SNP LIFR ENST00000263409 human ensembl 74_37 -1 known silent c.2526 p.I842 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 55 0 0.00 57 3 5.00 LOC101930657 0 genome.wustl.edu 37 1 717521 717521 + RNA SNP G G C TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 1 717521 717521 G C SNP LOC101930657 ENST00000457084 human ensembl 74_37 +1 known rna NULL NULL 0.346 - - - no_errors RP11-206L10.9 Clone_based_vega_gene ENSG00000237491 tier1 - - 99 0 0.00 104 8 7.08 LOXHD1 0 genome.wustl.edu 37 18 44087570 44087570 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 18 44087570 44087570 C T SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known missense c.5437 p.V1813I 0.987 NULL pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 tier1 - - 82 0 0.00 52 6 10.34 LRP2 0 genome.wustl.edu 37 2 170044680 170044680 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 2 170044680 170044680 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.9128 p.R3043H 0.961 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 rs143078432 - 99 0 0.00 86 22 20.37 LRRC28 0 genome.wustl.edu 37 15 99796172 99796172 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 15 99796172 99796172 G A SNP LRRC28 ENST00000301981 human ensembl 74_37 +1 known missense c.10 p.E4K 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC28 HGNC ENSG00000168904 tier1 - - 77 0 0.00 37 9 19.57 LUM 0 genome.wustl.edu 37 12 91502498 91502498 + Missense_Mutation SNP C C G TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 12 91502498 91502498 C G SNP LUM ENST00000266718 human ensembl 74_37 -1 known missense c.259 p.E87Q 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LUM HGNC ENSG00000139329 52 0 0.00 51 3 5.56 MAMSTR 0 genome.wustl.edu 37 19 49218580 49218580 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 19 49218580 49218580 C T SNP MAMSTR ENST00000318083 human ensembl 74_37 -1 known missense c.364 p.A122T 0.003 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors MAMSTR HGNC ENSG00000176909 tier1 - - 28 0 0.00 43 9 17.31 MAP3K10 0 genome.wustl.edu 37 19 40710471 40710471 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 19 40710471 40710471 G A SNP MAP3K10 ENST00000253055 human ensembl 74_37 +1 known missense c.943 p.V315M 1.000 pirsf_MAPKKK9/10/11,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 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K10 HGNC ENSG00000130758 tier1 - - 48 0 0.00 35 24 40.68 MAPRE1 0 genome.wustl.edu 37 20 31434572 31434572 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 20 31434572 31434572 C T SNP MAPRE1 ENST00000375571 human ensembl 74_37 +1 known missense c.746 p.T249I 1.000 superfamily_EB1_C pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain - no_errors MAPRE1 HGNC ENSG00000101367 tier1 - - 127 0 0.00 118 30 20.27 MBTPS2 0 genome.wustl.edu 37 X 21861368 21861368 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 X 21861368 21861368 G T SNP MBTPS2 ENST00000379484 human ensembl 74_37 +1 known missense c.156 p.W52C 1.000 NULL pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2 - no_errors MBTPS2 HGNC ENSG00000012174 tier1 - - 38 0 0.00 31 24 42.86 MKI67 0 genome.wustl.edu 37 10 129908757 129908757 + Silent SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 10 129908757 129908757 C T SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known silent c.2301 p.P767 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 36 0 0.00 38 2 5.00 MMAB 0 genome.wustl.edu 37 12 109999611 109999611 + Missense_Mutation SNP C C G TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 12 109999611 109999611 C G SNP MMAB ENST00000545712 human ensembl 74_37 -1 known missense c.395 p.C132S 0.865 pfam_AdoCbl_synth_CblAdoTrfase-like,superfamily_AdoCbl_synth_CblAdoTrfase-like,tigrfam_AdoCbl_synth_CblAdoTrfase-like pfam_AdoCbl_synth_CblAdoTrfase-like,superfamily_AdoCbl_synth_CblAdoTrfase-like,tigrfam_AdoCbl_synth_CblAdoTrfase-like - no_errors MMAB HGNC ENSG00000139428 55 0 0.00 36 2 5.13 MMD2 0 genome.wustl.edu 37 7 4965092 4965092 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 7 4965092 4965092 G T SNP MMD2 ENST00000404774 human ensembl 74_37 -1 known missense c.119 p.A40D 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors MMD2 HGNC ENSG00000136297 tier1 - - 35 0 0.00 34 4 10.53 MORC1 0 genome.wustl.edu 37 3 108698360 108698360 + Splice_Site SNP A A T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 3 108698360 108698360 A T SNP MORC1 ENST00000232603 human ensembl 74_37 -1 known splice_site c.2477+2 e24+2 1.000 - - - no_errors MORC1 HGNC ENSG00000114487 tier1 - - 33 0 0.00 28 13 30.95 MROH1 0 genome.wustl.edu 37 8 145245830 145245830 + Nonsense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 8 145245830 145245830 G T SNP MROH1 ENST00000326134 human ensembl 74_37 +1 known nonsense c.706 p.E236* 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors MROH1 HGNC ENSG00000179832 24 0 0.00 21 4 16.00 MSL1 0 genome.wustl.edu 37 17 38285497 38285497 + Splice_Site SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 17 38285497 38285497 G T SNP MSL1 ENST00000398532 human ensembl 74_37 +1 known splice_site c.993-1 e3-1 1.000 - - - no_errors MSL1 HGNC ENSG00000188895 26 0 0.00 25 2 7.41 MSL3P1 0 genome.wustl.edu 37 2 234775170 234775170 + RNA SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 2 234775170 234775170 C T SNP MSL3P1 ENST00000438684 human ensembl 74_37 -1 known rna NULL NULL 0.967 - - - no_errors MSL3P1 HGNC ENSG00000224287 26 0 0.00 26 3 10.34 MT-RNR2 0 genome.wustl.edu 37 MT 3091 3091 + RNA SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 MT 3091 3091 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 127 0 0.00 25 16 39.02 MT-TS2 0 genome.wustl.edu 37 MT 12244 12244 + RNA SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 MT 12244 12244 G T SNP MT-TS2 ENST00000387449 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-TS2 HGNC ENSG00000210184 tier1 - - 31 0 0.00 2 2 50.00 MTERF 0 genome.wustl.edu 37 7 91509448 91509448 + RNA SNP C C A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 7 91509448 91509448 C A SNP MTERF ENST00000481516 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTERF HGNC ENSG00000127989 tier1 - - 16 0 0.00 15 5 25.00 MYH9 0 genome.wustl.edu 37 22 36685336 36685336 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 22 36685336 36685336 G A SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.4352 p.A1451V 0.999 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 tier1 - - 54 0 0.00 37 10 21.28 NADK 0 genome.wustl.edu 37 1 1688112 1688112 + RNA SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 1 1688112 1688112 C T SNP NADK ENST00000492768 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors NADK HGNC ENSG00000008130 tier1 - - 22 0 0.00 24 4 14.29 NAT8 0 genome.wustl.edu 37 2 73868104 73868104 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 2 73868104 73868104 G A SNP NAT8 ENST00000272425 human ensembl 74_37 -1 known missense c.652 p.H218Y 0.018 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT8 HGNC ENSG00000144035 tier1 - - 39 0 0.00 33 12 26.67 NLRC4 0 genome.wustl.edu 37 2 32477568 32477568 + Missense_Mutation SNP T T C TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 2 32477568 32477568 T C SNP NLRC4 ENST00000360906 human ensembl 74_37 -1 known missense c.182 p.K61R 1.000 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 45 0 0.00 47 3 6.00 NLRP11 0 genome.wustl.edu 37 19 56321171 56321171 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 19 56321171 56321171 G T SNP NLRP11 ENST00000443188 human ensembl 74_37 -1 known missense c.805 p.P269T 0.001 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 47 0 0.00 44 3 6.25 NPAP1 0 genome.wustl.edu 37 15 24921975 24921975 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 15 24921975 24921975 G T SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.961 p.A321S 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 15 0 0.00 6 3 33.33 OR2M7 0 genome.wustl.edu 37 1 248487210 248487210 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 1 248487210 248487210 C T SNP OR2M7 ENST00000317965 human ensembl 74_37 -1 known missense c.661 p.V221I 0.310 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M7 HGNC ENSG00000177186 tier1 - - 162 0 0.00 113 48 29.81 OR4C12 0 genome.wustl.edu 37 11 50003895 50003895 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 11 50003895 50003895 G T SNP OR4C12 ENST00000335238 human ensembl 74_37 -1 known missense c.143 p.T48N 0.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4C12 HGNC ENSG00000221954 tier1 - - 87 0 0.00 58 28 32.56 OTOF 0 genome.wustl.edu 37 2 26700314 26700314 + Silent SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 2 26700314 26700314 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known silent c.2376 p.R792 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 88 0 0.00 51 3 5.56 PARP4 0 genome.wustl.edu 37 13 25068765 25068765 + Silent SNP T T A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 13 25068765 25068765 T A SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known silent c.687 p.L229 0.220 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 tier1 - - 106 0 0.00 98 9 8.41 PCDH10 0 genome.wustl.edu 37 4 134071343 134071343 + Silent SNP C C A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 4 134071343 134071343 C A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.48 p.V16 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 tier1 - - 62 0 0.00 67 14 17.28 PCDH11X 0 genome.wustl.edu 37 X 91873880 91873880 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 X 91873880 91873880 C T SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.3985 p.R1329C 0.136 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 - - 51 0 0.00 34 11 24.44 PCDHA10 0 genome.wustl.edu 37 5 140236546 140236546 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 5 140236546 140236546 G T SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.913 p.D305Y 0.225 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 PCDHA10 HGNC ENSG00000250120 22 0 0.00 20 3 13.04 PCDHA13 0 genome.wustl.edu 37 5 140263491 140263491 + Silent SNP C C A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 5 140263491 140263491 C A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.1638 p.G546 1.000 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 - - 179 0 0.00 159 43 21.29 PCDHA6 0 genome.wustl.edu 37 5 140209709 140209709 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 5 140209709 140209709 C T SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.2033 p.A678V 0.002 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 tier1 - - 85 0 0.00 71 25 26.04 PCDHGA4 0 genome.wustl.edu 37 5 140734952 140734952 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 5 140734952 140734952 G A SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known missense c.185 p.R62H 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 tier1 - - 71 0 0.00 61 18 22.78 PCNP 0 genome.wustl.edu 37 3 101304301 101304301 + Silent SNP A A G TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 3 101304301 101304301 A G SNP PCNP ENST00000265260 human ensembl 74_37 +1 known silent c.300 p.P100 1.000 NULL NULL - no_errors PCNP HGNC ENSG00000081154 tier1 - - 61 0 0.00 59 15 20.27 PDCD10 0 genome.wustl.edu 37 3 167437888 167437888 + Missense_Mutation SNP T T C TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 3 167437888 167437888 T C SNP PDCD10 ENST00000392750 human ensembl 74_37 -1 known missense c.58 p.M20V 1.000 pfam_DUF1241 pfam_DUF1241 - no_errors PDCD10 HGNC ENSG00000114209 tier1 rs138275885 - 68 0 0.00 71 24 25.26 PDE4DIP 0 genome.wustl.edu 37 1 144881481 144881481 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 1 144881481 144881481 C T SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.3715 p.A1239T 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 178 0 0.00 152 14 8.43 PF4 0 genome.wustl.edu 37 4 74847138 74847138 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 4 74847138 74847138 G T SNP PF4 ENST00000296029 human ensembl 74_37 -1 known missense c.214 p.L72M 0.310 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors PF4 HGNC ENSG00000163737 tier1 - - 54 0 0.00 43 14 24.56 PFKM 0 genome.wustl.edu 37 12 48516582 48516582 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 12 48516582 48516582 G A SNP PFKM ENST00000312352 human ensembl 74_37 +1 known missense c.25 p.A9T 1.000 pirsf_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKM HGNC ENSG00000152556 tier1 - - 42 0 0.00 22 3 12.00 PIN1P1 0 genome.wustl.edu 37 1 70385455 70385455 + RNA SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 1 70385455 70385455 C T SNP PIN1P1 ENST00000412108 human ensembl 74_37 +1 known rna NULL NULL 0.664 - - - no_errors PIN1P1 HGNC ENSG00000229359 tier1 - - 75 0 0.00 64 6 8.57 PIPSL 0 genome.wustl.edu 37 10 95720806 95720806 + RNA SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 10 95720806 95720806 C T SNP PIPSL ENST00000480546 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors PIPSL HGNC ENSG00000180764 tier1 - - 80 0 0.00 72 17 19.10 PPP2R1A 0 genome.wustl.edu 37 19 52729031 52729031 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 19 52729031 52729031 G A SNP PPP2R1A ENST00000322088 human ensembl 74_37 +1 known missense c.1723 p.V575I 0.999 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 tier1 - - 53 0 0.00 39 14 26.42 PRDM15 0 genome.wustl.edu 37 21 43221756 43221756 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 21 43221756 43221756 C T SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known missense c.4168 p.V1390M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 tier1 - - 61 0 0.00 52 9 14.75 PRELID1P1 0 genome.wustl.edu 37 6 126964866 126964866 + RNA SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 6 126964866 126964866 G T SNP PRELID1P1 ENST00000567272 human ensembl 74_37 +1 known rna NULL NULL 0.219 - - - no_errors PRELID1P1 HGNC ENSG00000217325 tier1 - - 47 0 0.00 58 13 18.31 PRMT8 0 genome.wustl.edu 37 12 3600835 3600835 + Missense_Mutation SNP A A T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 12 3600835 3600835 A T SNP PRMT8 ENST00000382622 human ensembl 74_37 +1 known missense c.44 p.K15I 1.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT8 HGNC ENSG00000111218 tier1 - - 17 0 0.00 20 4 16.00 PRSS3 0 genome.wustl.edu 37 9 33798037 33798037 + Silent SNP T T C TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 9 33798037 33798037 T C SNP PRSS3 ENST00000361005 human ensembl 74_37 +1 known silent c.582 p.T194 0.688 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS3 HGNC ENSG00000010438 102 0 0.00 84 5 5.62 PSG1 0 genome.wustl.edu 37 19 43376083 43376083 + Missense_Mutation SNP A A G TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 19 43376083 43376083 A G SNP PSG1 ENST00000312439 human ensembl 74_37 -1 known missense c.545 p.M182T 0.013 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG1 HGNC ENSG00000231924 tier1 - - 215 0 0.00 240 17 6.61 PSG9 0 genome.wustl.edu 37 19 43763024 43763024 + Missense_Mutation SNP T T A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 19 43763024 43763024 T A SNP PSG9 ENST00000270077 human ensembl 74_37 -1 known missense c.973 p.I325F 0.023 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG9 HGNC ENSG00000183668 tier1 rs140571643 - 226 0 0.00 218 68 23.78 PTPN23 0 genome.wustl.edu 37 3 47449841 47449841 + Missense_Mutation SNP C C G TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 3 47449841 47449841 C G SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known missense c.1191 p.F397L 1.000 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 tier1 - - 88 0 0.00 55 14 20.29 RAB5C 0 genome.wustl.edu 37 17 40282551 40282551 + Silent SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 17 40282551 40282551 G A SNP RAB5C ENST00000547517 human ensembl 74_37 -1 putative silent c.69 p.H23 0.987 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB5C HGNC ENSG00000108774 tier1 - - 17 0 0.00 27 7 20.59 RANBP6 0 genome.wustl.edu 37 9 6012690 6012690 + Frame_Shift_Del DEL T T - TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 9 6012690 6012690 T - DEL RANBP6 ENST00000259569 human ensembl 74_37 -1 known frame_shift_del c.2918 p.N973fs 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 tier1 42 0 0.00 41 3 6.82 RIBC2 0 genome.wustl.edu 37 22 45821833 45821833 + Silent SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 22 45821833 45821833 C T SNP RIBC2 ENST00000538017 human ensembl 74_37 +1 known silent c.666 p.I222 0.000 pfam_RIB43A pfam_RIB43A - no_errors RIBC2 HGNC ENSG00000128408 tier1 - - 33 0 0.00 22 8 26.67 RNF103 0 genome.wustl.edu 37 2 86847539 86847539 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 2 86847539 86847539 C T SNP RNF103 ENST00000237455 human ensembl 74_37 -1 known missense c.280 p.E94K 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 tier1 - - 54 0 0.00 74 4 5.13 RPUSD2 0 genome.wustl.edu 37 15 40864010 40864010 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 15 40864010 40864010 C T SNP RPUSD2 ENST00000315616 human ensembl 74_37 +1 known missense c.814 p.R272W 1.000 pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D - no_errors RPUSD2 HGNC ENSG00000166133 tier1 rs140454770 - 52 0 0.00 53 10 15.87 RTN4R 0 genome.wustl.edu 37 22 20229382 20229382 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 22 20229382 20229382 G A SNP RTN4R ENST00000043402 human ensembl 74_37 -1 known missense c.1274 p.T425I 0.984 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4R HGNC ENSG00000040608 tier1 - - 24 0 0.00 8 5 38.46 RYR2 0 genome.wustl.edu 37 1 237777617 237777617 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 1 237777617 237777617 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.5183 p.T1728M 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 69 0 0.00 50 15 23.08 SELL 0 genome.wustl.edu 37 1 169670756 169670756 + Silent SNP A A G TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 1 169670756 169670756 A G SNP SELL ENST00000236147 human ensembl 74_37 -1 known silent c.1065 p.V355 0.076 pirsf_L-selectin pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELL HGNC ENSG00000188404 tier1 - - 39 0 0.00 38 6 13.64 SEMA3E 0 genome.wustl.edu 37 7 83031961 83031961 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 7 83031961 83031961 G T SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known missense c.1130 p.P377Q 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 tier1 - - 76 0 0.00 62 4 6.06 SENP7 0 genome.wustl.edu 37 3 101059041 101059041 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 3 101059041 101059041 G T SNP SENP7 ENST00000394095 human ensembl 74_37 -1 known missense c.2255 p.P752H 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 65 0 0.00 72 4 5.26 SHROOM2 0 genome.wustl.edu 37 X 9900611 9900611 + Silent SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 X 9900611 9900611 G A SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known silent c.3288 p.T1096 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 tier1 - - 41 0 0.00 24 25 51.02 SIDT1 0 genome.wustl.edu 37 3 113346614 113346614 + RNA SNP T T A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 3 113346614 113346614 T A SNP SIDT1 ENST00000463226 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SIDT1 HGNC ENSG00000072858 tier1 - - 66 0 0.00 62 6 8.82 SLC12A3 0 genome.wustl.edu 37 16 56918001 56918001 + Silent SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 16 56918001 56918001 G A SNP SLC12A3 ENST00000438926 human ensembl 74_37 +1 known silent c.1710 p.A570 0.145 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC ENSG00000070915 tier1 - - 64 0 0.00 51 4 7.27 SLC2A14 0 genome.wustl.edu 37 12 7981378 7981378 + Missense_Mutation SNP T T A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 12 7981378 7981378 T A SNP SLC2A14 ENST00000396589 human ensembl 74_37 -1 known missense c.667 p.S223C 0.325 pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A14 HGNC ENSG00000173262 tier1 - - 70 0 0.00 48 18 27.27 SMAD9 0 genome.wustl.edu 37 13 37439893 37439893 + Missense_Mutation SNP A A C TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 13 37439893 37439893 A C SNP SMAD9 ENST00000379826 human ensembl 74_37 -1 known missense c.784 p.F262V 1.000 superfamily_SMAD_FHA_domain pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD9 HGNC ENSG00000120693 tier1 - - 57 0 0.00 55 19 25.68 SMC2 0 genome.wustl.edu 37 9 106857810 106857810 + Silent SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 9 106857810 106857810 C T SNP SMC2 ENST00000286398 human ensembl 74_37 +1 known silent c.145 p.L49 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 tier1 - - 59 0 0.00 63 10 13.70 SNHG14 0 genome.wustl.edu 37 15 25227118 25227118 + RNA SNP A A C TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 15 25227118 25227118 A C SNP SNHG14 ENST00000551631 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 15 0 0.00 19 5 20.83 SNX11 0 genome.wustl.edu 37 17 46189952 46189952 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 17 46189952 46189952 G A SNP SNX11 ENST00000359238 human ensembl 74_37 +1 known missense c.59 p.R20H 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX11 HGNC ENSG00000002919 tier1 - - 61 0 0.00 56 12 17.65 SPATA31A6 0 genome.wustl.edu 37 9 43628000 43628000 + Silent SNP C C A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 9 43628000 43628000 C A SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known silent c.687 p.L229 0.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 tier1 - - 34 0 0.00 21 10 32.26 SPHAR 0 genome.wustl.edu 37 1 229440935 229440935 + Missense_Mutation SNP C C G TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 1 229440935 229440935 C G SNP SPHAR ENST00000366688 human ensembl 74_37 +1 known missense c.54 p.C18W 0.000 NULL NULL - no_errors SPHAR HGNC ENSG00000213029 tier1 - - 28 0 0.00 29 7 19.44 SPTA1 0 genome.wustl.edu 37 1 158627319 158627319 + Missense_Mutation SNP T T G TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 1 158627319 158627319 T G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.2753 p.K918T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 86 0 0.00 68 11 13.92 SPZ1 0 genome.wustl.edu 37 5 79616605 79616605 + Nonsense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 5 79616605 79616605 C T SNP SPZ1 ENST00000296739 human ensembl 74_37 +1 known nonsense c.571 p.Q191* 0.045 NULL NULL - no_errors SPZ1 HGNC ENSG00000164299 39 0 0.00 41 4 8.89 SRPK1 0 genome.wustl.edu 37 6 35837647 35837647 + Silent SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 6 35837647 35837647 C T SNP SRPK1 ENST00000373825 human ensembl 74_37 -1 known silent c.1023 p.T341 0.030 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors SRPK1 HGNC ENSG00000096063 tier1 - - 30 0 0.00 37 4 9.76 SSH2 0 genome.wustl.edu 37 17 28088355 28088355 + RNA SNP C C A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 17 28088355 28088355 C A SNP SSH2 ENST00000324677 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SSH2 HGNC ENSG00000141298 tier1 - - 33 0 0.00 20 7 25.93 SWT1 0 genome.wustl.edu 37 1 185143719 185143719 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 1 185143719 185143719 G A SNP SWT1 ENST00000367500 human ensembl 74_37 +1 known missense c.440 p.G147E 0.000 NULL smart_PIN_dom - no_errors SWT1 HGNC ENSG00000116668 tier1 - - 42 0 0.00 50 5 9.09 SYVN1 0 genome.wustl.edu 37 11 64900951 64900951 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 11 64900951 64900951 G T SNP SYVN1 ENST00000377190 human ensembl 74_37 -1 known missense c.122 p.P41H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors SYVN1 HGNC ENSG00000162298 92 0 0.00 75 4 5.06 TBC1D3P1-DHX40P1 0 genome.wustl.edu 37 17 58085562 58085562 + RNA SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 17 58085562 58085562 C T SNP TBC1D3P1-DHX40P1 ENST00000407042 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TBC1D3P1-DHX40P1 HGNC ENSG00000267104 tier1 - - 26 0 0.00 22 8 26.67 TBC1D8 0 genome.wustl.edu 37 2 101650137 101650137 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 2 101650137 101650137 C T SNP TBC1D8 ENST00000409318 human ensembl 74_37 -1 known missense c.1687 p.E563K 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8 HGNC ENSG00000204634 tier1 - - 89 0 0.00 61 22 26.51 TBL1Y 0 genome.wustl.edu 37 Y 6939642 6939642 + Silent SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 Y 6939642 6939642 C T SNP TBL1Y ENST00000346432 human ensembl 74_37 +1 known silent c.774 p.F258 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1Y HGNC ENSG00000092377 tier1 - - 96 0 0.00 62 39 38.61 TENM4 0 genome.wustl.edu 37 11 78567195 78567195 + Missense_Mutation SNP G G C TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 11 78567195 78567195 G C SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.1284 p.D428E 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 15 0 0.00 21 5 19.23 TFPI2 0 genome.wustl.edu 37 7 93519535 93519535 + Missense_Mutation SNP C C A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 7 93519535 93519535 C A SNP TFPI2 ENST00000222543 human ensembl 74_37 -1 known missense c.185 p.R62L 0.000 pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI2 HGNC ENSG00000105825 tier1 - - 58 0 0.00 68 20 22.73 TGFBR2 0 genome.wustl.edu 37 3 30732996 30732996 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 3 30732996 30732996 C T SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known missense c.1684 p.R562C 1.000 pirsf_Transform_growth_fac-b_typ-2,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 35 0 0.00 32 3 8.57 TGM4 0 genome.wustl.edu 37 3 44948486 44948486 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 3 44948486 44948486 G T SNP TGM4 ENST00000296125 human ensembl 74_37 +1 known missense c.1121 p.G374V 0.934 NULL pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM4 HGNC ENSG00000163810 tier1 - - 88 0 0.00 60 5 7.69 TMEM254 0 genome.wustl.edu 37 10 81841955 81841955 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 10 81841955 81841955 G T SNP TMEM254 ENST00000372281 human ensembl 74_37 +1 known missense c.246 p.L82F 0.968 NULL NULL - no_errors TMEM254 HGNC ENSG00000133678 tier1 - - 129 0 0.00 87 6 6.45 TMEM60 0 genome.wustl.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 7 77423460 77423460 T 0 DEL TMEM60 ENST00000257663 human ensembl 74_37 -1 known frame_shift_del c.231 p.A78fs 0.998 NULL pfam_TM_Fragile-X-F-assoc - no_errors TMEM60 HGNC ENSG00000135211 89 0 0.00 108 7 6.09 TMEM70 0 genome.wustl.edu 37 8 74891072 74891072 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 8 74891072 74891072 G T SNP TMEM70 ENST00000312184 human ensembl 74_37 +1 known missense c.292 p.G98C 1.000 NULL pfam_DUF1301_TMEM70 - no_errors TMEM70 HGNC ENSG00000175606 71 0 0.00 74 5 6.33 TRPC7 0 genome.wustl.edu 37 5 135610523 135610523 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 5 135610523 135610523 G T SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.966 p.F322L 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 24 0 0.00 18 2 10.00 TSC22D2 0 genome.wustl.edu 37 3 150127200 150127200 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 3 150127200 150127200 G T SNP TSC22D2 ENST00000361875 human ensembl 74_37 +1 known missense c.63 p.Q21H 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D2 HGNC ENSG00000196428 35 0 0.00 36 4 10.00 TSPAN17 0 genome.wustl.edu 37 5 176082007 176082007 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 5 176082007 176082007 G A SNP TSPAN17 ENST00000310032 human ensembl 74_37 +1 known missense c.568 p.V190I 0.993 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN17 HGNC ENSG00000048140 82 0 0.00 70 5 6.67 TTC21A 0 genome.wustl.edu 37 3 39178769 39178769 + Missense_Mutation SNP C C A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 3 39178769 39178769 C A SNP TTC21A ENST00000301819 human ensembl 74_37 +1 known missense c.3365 p.S1122Y 0.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 tier1 - - 74 0 0.00 42 4 8.70 TTC7B 0 genome.wustl.edu 37 14 91077133 91077133 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 14 91077133 91077133 C T SNP TTC7B ENST00000357056 human ensembl 74_37 -1 known missense c.1919 p.R640Q 1.000 NULL pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 tier1 - - 54 0 0.00 36 18 32.73 TTLL10 0 genome.wustl.edu 37 1 1114645 1114645 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 1 1114645 1114645 G A SNP TTLL10 ENST00000379289 human ensembl 74_37 +1 known missense c.50 p.R17Q 0.001 NULL pfam_TTL/TTLL_fam - no_errors TTLL10 HGNC ENSG00000162571 tier1 - - 29 0 0.00 25 6 19.35 UNC80 0 genome.wustl.edu 37 2 210640650 210640650 + Missense_Mutation SNP G G T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 2 210640650 210640650 G T SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.179 p.G60V 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 32 0 0.00 34 2 5.56 USHBP1 0 genome.wustl.edu 37 19 17373543 17373543 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 19 17373543 17373543 C T SNP USHBP1 ENST00000252597 human ensembl 74_37 -1 known missense c.460 p.E154K 0.000 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC ENSG00000130307 tier1 - - 121 0 0.00 76 46 37.70 WASH6P 0 genome.wustl.edu 37 X 155254025 155254025 + RNA DEL C C - TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 X 155254025 155254025 C - DEL WASH6P ENST00000461007 human ensembl 74_37 +1 known rna NULL NULL 0.049 - - - no_errors WASH6P HGNC ENSG00000182484 tier1 58 0 0.00 44 12 21.43 WBP11 0 genome.wustl.edu 37 12 14940118 14940118 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 12 14940118 14940118 C T SNP WBP11 ENST00000261167 human ensembl 74_37 -1 known missense c.1807 p.D603N 1.000 NULL pfam_WW_dom-bd_prot_11 - no_errors WBP11 HGNC ENSG00000084463 59 0 0.00 71 4 5.33 XRN1 0 genome.wustl.edu 37 3 142037736 142037736 + Missense_Mutation SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 3 142037736 142037736 C T SNP XRN1 ENST00000264951 human ensembl 74_37 -1 known missense c.4411 p.V1471I 0.988 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 tier1 - - 72 0 0.00 64 11 14.67 ZC3H18 0 genome.wustl.edu 37 16 88694106 88694106 + Missense_Mutation SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 16 88694106 88694106 G A SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known missense c.2185 p.E729K 0.996 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 31 0 0.00 35 3 7.69 ZIC4 0 genome.wustl.edu 37 3 147105846 147105846 + RNA SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 3 147105846 147105846 C T SNP ZIC4 ENST00000472749 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZIC4 HGNC ENSG00000174963 tier1 - - 18 0 0.00 19 8 29.63 ZMYM6 0 genome.wustl.edu 37 1 35496350 35496350 + RNA SNP A A G TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 1 35496350 35496350 A G SNP ZMYM6 ENST00000493328 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors ZMYM6 HGNC ENSG00000163867 tier1 - - 45 0 0.00 27 7 20.59 ZNF677 0 genome.wustl.edu 37 19 53747130 53747130 + Silent SNP A A G TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 19 53747130 53747130 A G SNP ZNF677 ENST00000333952 human ensembl 74_37 -1 known silent c.36 p.D12 0.994 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF677 HGNC ENSG00000197928 tier1 - - 63 0 0.00 84 20 19.23 ZNF815P 0 genome.wustl.edu 37 7 5886611 5886611 + RNA SNP C C G TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 7 5886611 5886611 C G SNP ZNF815P ENST00000421890 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF815P HGNC ENSG00000235944 26 0 0.00 38 5 11.63 ZSWIM5 0 genome.wustl.edu 37 1 45553566 45553566 + Silent SNP G G A TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5b1ad04c-dea2-4b4e-a5ec-40572126c885 954881bf-dc65-418e-8862-1d327c701757 1 45553566 45553566 G A SNP ZSWIM5 ENST00000359600 human ensembl 74_37 -1 known silent c.939 p.I313 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 tier1 - - 66 0 0.00 57 16 21.92