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 ACTR3 0 genome.wustl.edu 37 2 114691892 114691892 + Missense_Mutation SNP C C G TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 2 114691892 114691892 C G SNP ACTR3 ENST00000263238 human ensembl 74_37 +1 known missense c.469 p.Q157E 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR3 HGNC ENSG00000115091 tier1 - - 84 0 0.00 61 8 11.43 ADCY10P1 0 genome.wustl.edu 37 6 41077455 41077455 + RNA SNP G G C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 6 41077455 41077455 G C SNP ADCY10P1 ENST00000567255 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ADCY10P1 HGNC ENSG00000161912 67 0 0.00 56 3 5.08 AMBP 0 genome.wustl.edu 37 9 116840418 116840418 + Silent SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 9 116840418 116840418 C T SNP AMBP ENST00000265132 human ensembl 74_37 -1 known silent c.72 p.T24 0.000 superfamily_Calycin-like pfam_Prot_inh_Kunz-m,pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_A1-microglobln,prints_PstgldnD_synth,prints_Prot_inh_Kunz-m,prints_Lipocalin - no_errors AMBP HGNC ENSG00000106927 tier1 - - 71 0 0.00 64 9 12.33 ANKRD30A 0 genome.wustl.edu 37 10 37506796 37506796 + Missense_Mutation SNP A A C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 10 37506796 37506796 A C SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.3089 p.N1030T 0.006 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 tier1 - - 79 0 0.00 43 4 8.51 ARHGAP15 0 genome.wustl.edu 37 2 144525735 144525735 + Missense_Mutation SNP A A C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 2 144525735 144525735 A C SNP ARHGAP15 ENST00000295095 human ensembl 74_37 +1 known missense c.1422 p.E474D 1.000 superfamily_Rho_GTPase_activation_prot pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP15 HGNC ENSG00000075884 tier1 - - 63 0 0.00 53 4 7.02 ARHGAP6 0 genome.wustl.edu 37 X 11682517 11682517 + Silent SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 X 11682517 11682517 G A SNP ARHGAP6 ENST00000337414 human ensembl 74_37 -1 known silent c.432 p.A144 0.031 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 tier1 - - 90 0 0.00 77 5 6.02 ARMC6 0 genome.wustl.edu 37 19 19166105 19166105 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 19 19166105 19166105 G A SNP ARMC6 ENST00000392336 human ensembl 74_37 +1 known missense c.1055 p.R352Q 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC6 HGNC ENSG00000105676 78 0 0.00 70 4 5.41 BICC1 0 genome.wustl.edu 37 10 60573753 60573753 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 10 60573753 60573753 G A SNP BICC1 ENST00000263103 human ensembl 74_37 +1 known missense c.1418 p.R473H 0.108 NULL NULL - no_errors BICC1 HGNC ENSG00000122870 tier1 - - 126 0 0.00 84 8 8.70 C1orf173 0 genome.wustl.edu 37 1 75038472 75038472 + Silent SNP A A G TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 1 75038472 75038472 A G SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known silent c.2922 p.I974 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 56 0 0.00 52 6 10.34 C1orf173 0 genome.wustl.edu 37 1 75086434 75086434 + Silent SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 1 75086434 75086434 G T SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known silent c.984 p.G328 0.998 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 41 0 0.00 46 3 6.12 C2CD3 0 genome.wustl.edu 37 11 73829364 73829364 + Frame_Shift_Del DEL T T - TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 11 73829364 73829364 T - DEL C2CD3 ENST00000334126 human ensembl 74_37 -1 known frame_shift_del c.1429 p.I477fs 0.966 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 tier1 37 0 0.00 31 2 6.06 CCDC50 0 genome.wustl.edu 37 3 191092969 191092969 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 3 191092969 191092969 G T SNP CCDC50 ENST00000392456 human ensembl 74_37 +1 known missense c.567 p.E189D 0.562 NULL NULL - no_errors CCDC50 HGNC ENSG00000152492 43 0 0.00 53 3 5.36 CD160 0 genome.wustl.edu 37 1 145698977 145698977 + Missense_Mutation SNP C C G TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 1 145698977 145698977 C G SNP CD160 ENST00000235933 human ensembl 74_37 -1 known missense c.514 p.V172L 0.947 NULL NULL - no_errors CD160 HGNC ENSG00000117281 tier1 - - 102 0 0.00 117 9 7.14 CD28 0 genome.wustl.edu 37 2 204591394 204591394 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 2 204591394 204591394 G T SNP CD28 ENST00000324106 human ensembl 74_37 +1 known missense c.91 p.A31S 0.281 pfam_Ig_V-set pfam_Ig_V-set,smart_Ig_V-set_subgr,prints_CD28 - no_errors CD28 HGNC ENSG00000178562 tier1 - - 93 0 0.00 72 4 5.26 CHD9 0 genome.wustl.edu 37 16 53279275 53279275 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 16 53279275 53279275 C T SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.3082 p.P1028S 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 82 0 0.00 52 3 5.45 CPEB4 0 genome.wustl.edu 37 5 173317497 173317497 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 5 173317497 173317497 C T SNP CPEB4 ENST00000265085 human ensembl 74_37 +1 known missense c.761 p.A254V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 45 0 0.00 58 4 6.45 CPO 0 genome.wustl.edu 37 2 207814400 207814400 + Missense_Mutation SNP A A G TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 2 207814400 207814400 A G SNP CPO ENST00000272852 human ensembl 74_37 +1 known missense c.128 p.E43G 0.984 NULL pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPO HGNC ENSG00000144410 tier1 - - 85 0 0.00 79 5 5.95 CSMD3 0 genome.wustl.edu 37 8 113504850 113504850 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 8 113504850 113504850 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.5146 p.D1716N 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 72 0 0.00 60 4 6.25 CUL7 0 genome.wustl.edu 37 6 43013045 43013045 + Silent SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 6 43013045 43013045 G T SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known silent c.3210 p.R1070 0.999 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 tier1 - - 36 0 0.00 30 4 11.76 DCT 0 genome.wustl.edu 37 13 95118847 95118847 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 13 95118847 95118847 G A SNP DCT ENST00000446125 human ensembl 74_37 -1 known missense c.661 p.R221W 0.992 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 tier1 - - 78 0 0.00 86 5 5.43 DERA 0 genome.wustl.edu 37 12 16109898 16109898 + Silent SNP G G C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 12 16109898 16109898 G C SNP DERA ENST00000428559 human ensembl 74_37 +1 known silent c.60 p.V20 1.000 NULL pfam_DeoC/FbaB/lacD_aldolase,pirsf_DeoC,tigrfam_DeoC - no_errors DERA HGNC ENSG00000023697 tier1 - - 62 0 0.00 32 4 11.11 DHX57 0 genome.wustl.edu 37 2 39085815 39085815 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 2 39085815 39085815 G T SNP DHX57 ENST00000295373 human ensembl 74_37 -1 known missense c.1575 p.F525L 0.956 NULL pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 tier1 - - 45 0 0.00 59 4 6.35 DLG4 0 genome.wustl.edu 37 17 7106648 7106648 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 17 7106648 7106648 C T SNP DLG4 ENST00000399510 human ensembl 74_37 -1 known missense c.635 p.G212D 1.000 pirsf_M-assoc_guanylate_kinase,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG4 HGNC ENSG00000132535 tier1 - - 60 0 0.00 49 5 9.26 DNAH3 0 genome.wustl.edu 37 16 21136659 21136659 + Nonsense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 16 21136659 21136659 G T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known nonsense c.1241 p.S414* 0.037 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 61 0 0.00 71 4 5.33 ECE2 0 genome.wustl.edu 37 3 184008930 184008930 + Missense_Mutation SNP A A G TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 3 184008930 184008930 A G SNP ECE2 ENST00000402825 human ensembl 74_37 +1 known missense c.2291 p.Q764R 1.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 tier1 - - 88 0 0.00 66 7 9.59 EMILIN2 0 genome.wustl.edu 37 18 2890741 2890741 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 18 2890741 2890741 G T SNP EMILIN2 ENST00000254528 human ensembl 74_37 +1 known missense c.616 p.A206S 0.951 NULL pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 tier1 - - 55 0 0.00 43 4 8.51 ENSG00000203849 0 genome.wustl.edu 37 1 142714102 142714103 + RNA DEL AC AC - TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 1 142714102 142714103 AC - DEL ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.051:0.060 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 tier1 22 0 0.00 16 3 15.79 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65288 65288 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 GL000212.1 65288 65288 C T SNP ENSG00000212857 ENST00000391545 human ensembl 74_37 +1 known missense c.1037 p.T346M NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 tier1 - - 16 0 0.00 17 8 32.00 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65289 65289 + Silent SNP G G C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 GL000212.1 65289 65289 G C SNP ENSG00000212857 ENST00000391545 human ensembl 74_37 +1 known silent c.1038 p.T346 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 tier1 - - 16 0 0.00 16 8 33.33 ENSG00000224631 0 genome.wustl.edu 37 16 61089321 61089321 + RNA DEL A A - TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 16 61089321 61089321 A 0 DEL ENSG00000224631 ENST00000591758 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors RP11-51O6.1 Clone_based_vega_gene ENSG00000224631 12 0 0.00 3 3 50.00 ENSG00000231611 0 genome.wustl.edu 37 11 116646336 116646336 + RNA SNP T T C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 11 116646336 116646336 T C SNP ENSG00000231611 ENST00000366405 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors AP006216.11 Clone_based_vega_gene ENSG00000231611 tier1 - - 67 0 0.00 62 9 12.68 ENSG00000238726 0 genome.wustl.edu 37 4 9025165 9025165 + RNA SNP T T G TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 4 9025165 9025165 T G SNP ENSG00000238726 ENST00000408553 human ensembl 74_37 -1 novel rna NULL NULL 0.248 - - - no_errors AC073648.1 Clone_based_ensembl_gene ENSG00000238726 tier1 - - 397 0 0.00 389 23 5.58 ENSG00000267075 0 genome.wustl.edu 37 17 20452507 20452507 + RNA SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 17 20452507 20452507 C T SNP ENSG00000267075 ENST00000591705 human ensembl 74_37 +1 known rna NULL NULL 0.199 - - - no_errors RP11-434D2.3 Clone_based_vega_gene ENSG00000267075 tier1 - - 10 0 0.00 7 4 36.36 EPPK1 0 genome.wustl.edu 37 8 144941006 144941006 + Missense_Mutation SNP A A G TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 8 144941006 144941006 A G SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.6416 p.L2139P 0.055 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 52 0 0.00 39 3 7.14 EPRS 0 genome.wustl.edu 37 1 220160717 220160717 + Silent SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 1 220160717 220160717 G T SNP EPRS ENST00000366923 human ensembl 74_37 -1 known silent c.2805 p.L935 0.309 pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 tier1 - - 45 0 0.00 51 4 7.27 ETV2 0 genome.wustl.edu 37 19 36134632 36134632 + Missense_Mutation SNP G G C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 19 36134632 36134632 G C SNP ETV2 ENST00000402764 human ensembl 74_37 +1 known missense c.692 p.R231P 0.003 NULL pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom - no_errors ETV2 HGNC ENSG00000105672 tier1 - - 89 0 0.00 113 6 5.04 ETV7 0 genome.wustl.edu 37 6 36336842 36336842 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 6 36336842 36336842 C T SNP ETV7 ENST00000340181 human ensembl 74_37 -1 known missense c.671 p.R224H 1.000 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 ETV7 HGNC ENSG00000010030 62 0 0.00 68 4 5.48 FAM102B 0 genome.wustl.edu 37 1 109154834 109154834 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 1 109154834 109154834 C T SNP FAM102B ENST00000370035 human ensembl 74_37 +1 known missense c.323 p.A108V 1.000 pfam_NT-C2 pfam_NT-C2 - no_errors FAM102B HGNC ENSG00000162636 tier1 - - 84 0 0.00 75 4 5.06 FAM117B 0 genome.wustl.edu 37 2 203622160 203622160 + Missense_Mutation SNP A A C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 2 203622160 203622160 A C SNP FAM117B ENST00000392238 human ensembl 74_37 +1 known missense c.1329 p.K443N 1.000 NULL NULL - no_errors FAM117B HGNC ENSG00000138439 tier1 - - 89 0 0.00 67 4 5.63 FAM208B 0 genome.wustl.edu 37 10 5784218 5784218 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 10 5784218 5784218 C T SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known missense c.2486 p.T829M 0.371 pfam_DUF3715 pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 116 0 0.00 94 5 5.05 FAT1 0 genome.wustl.edu 37 4 187538272 187538272 + Nonsense_Mutation SNP T T A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 4 187538272 187538272 T A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known nonsense c.8962 p.K2988* 0.982 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 - - 70 0 0.00 54 10 15.62 FCAMR 0 genome.wustl.edu 37 1 207133114 207133114 + Silent SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 1 207133114 207133114 G T SNP FCAMR ENST00000400962 human ensembl 74_37 -1 known silent c.681 p.L227 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCAMR HGNC ENSG00000162897 65 0 0.00 66 4 5.71 FLG 0 genome.wustl.edu 37 1 152281402 152281402 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 1 152281402 152281402 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.5960 p.R1987H 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 rs150720370 - 323 0 0.00 277 15 5.14 GABRE 0 genome.wustl.edu 37 X 151130908 151130908 + Missense_Mutation SNP A A C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 X 151130908 151130908 A C SNP GABRE ENST00000370328 human ensembl 74_37 -1 known missense c.550 p.L184V 0.881 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRE HGNC ENSG00000102287 tier1 - - 60 0 0.00 59 4 6.35 GDF9 0 genome.wustl.edu 37 5 132197854 132197854 + Silent SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 5 132197854 132197854 G T SNP GDF9 ENST00000296875 human ensembl 74_37 -1 known silent c.792 p.I264 0.120 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF9 HGNC ENSG00000164404 tier1 - - 80 0 0.00 70 4 5.41 GIGYF2 0 genome.wustl.edu 37 2 233677201 233677201 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 2 233677201 233677201 G T SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known missense c.2173 p.V725F 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 100 0 0.00 60 4 6.25 GPR126 0 genome.wustl.edu 37 6 142718824 142718824 + Missense_Mutation SNP A A C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 6 142718824 142718824 A C SNP GPR126 ENST00000367609 human ensembl 74_37 +1 known missense c.1499 p.K500T 1.000 NULL pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 tier1 - - 85 0 0.00 63 7 10.00 GPR63 0 genome.wustl.edu 37 6 97247216 97247216 + Missense_Mutation SNP G G C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 6 97247216 97247216 G C SNP GPR63 ENST00000229955 human ensembl 74_37 -1 known missense c.392 p.A131G 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR63 HGNC ENSG00000112218 89 0 0.00 48 3 5.77 GTSE1 0 genome.wustl.edu 37 22 46708101 46708101 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 22 46708101 46708101 C T SNP GTSE1 ENST00000454366 human ensembl 74_37 +1 known missense c.826 p.R276W 0.000 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 tier1 - - 133 0 0.00 147 8 5.16 HACE1 0 genome.wustl.edu 37 6 105232975 105232975 + Missense_Mutation SNP C C A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 6 105232975 105232975 C A SNP HACE1 ENST00000262903 human ensembl 74_37 -1 known missense c.1294 p.A432S 0.863 NULL pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt - no_errors HACE1 HGNC ENSG00000085382 tier1 - - 82 0 0.00 73 4 5.19 HCN1 0 genome.wustl.edu 37 5 45645328 45645328 + Nonsense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 5 45645328 45645328 G A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known nonsense c.808 p.R270* 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 tier1 - - 98 0 0.00 90 18 16.67 HDAC9 0 genome.wustl.edu 37 7 19015467 19015467 + Silent SNP A A C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 7 19015467 19015467 A C SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known silent c.3061 p.R1021 0.999 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 tier1 - - 85 0 0.00 81 8 8.99 HDDC3 0 genome.wustl.edu 37 15 91475176 91475176 + Splice_Site SNP T T C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 15 91475176 91475176 T C SNP HDDC3 ENST00000394272 human ensembl 74_37 -1 known splice_site c.169-2 e3-2 1.000 - - - no_errors HDDC3 HGNC ENSG00000184508 tier1 - - 73 0 0.00 72 4 5.26 HNRNPR 0 genome.wustl.edu 37 1 23636874 23636875 + RNA INS - - T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 1 23636874 23636875 - T INS HNRNPR ENST00000476660 human ensembl 74_37 -1 known rna NULL NULL 0.973:0.936 - - - no_errors HNRNPR HGNC ENSG00000125944 tier1 36 0 0.00 33 3 8.33 IL19 0 genome.wustl.edu 37 1 207010152 207010152 + Splice_Site SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 1 207010152 207010152 G A SNP IL19 ENST00000340758 human ensembl 74_37 +1 known splice_site c.258+1 e2+1 0.981 - - - no_errors IL19 HGNC ENSG00000142224 tier1 - - 106 0 0.00 79 8 9.20 IPO11 0 genome.wustl.edu 37 5 61778953 61778954 + Frame_Shift_Ins INS - - T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 5 61778953 61778954 - T INS IPO11 ENST00000409296 human ensembl 74_37 +1 known frame_shift_ins c.974_975 p.S327fs 1.000:0.955 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO11 HGNC ENSG00000086200 tier1 19 0 0.00 25 4 13.79 IRF1 0 genome.wustl.edu 37 5 131821980 131821980 + Nonsense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 5 131821980 131821980 G T SNP IRF1 ENST00000245414 human ensembl 74_37 -1 known nonsense c.630 p.Y210* 1.000 pirsf_Interferon_reg_fac-1/2 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF1 HGNC ENSG00000125347 39 0 0.00 33 2 5.71 ITGB5 0 genome.wustl.edu 37 3 124482499 124482499 + Missense_Mutation SNP T T A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 3 124482499 124482499 T A SNP ITGB5 ENST00000296181 human ensembl 74_37 -1 known missense c.2371 p.N791Y 1.000 NULL pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu - no_errors ITGB5 HGNC ENSG00000082781 34 0 0.00 40 7 14.58 KCTD7 0 genome.wustl.edu 37 7 66104098 66104098 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 7 66104098 66104098 C T SNP KCTD7 ENST00000275532 human ensembl 74_37 +1 known missense c.749 p.T250M 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD7 HGNC ENSG00000243335 tier1 - - 42 0 0.00 35 5 12.50 KDM5A 0 genome.wustl.edu 37 12 404795 404795 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 12 404795 404795 G A SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known missense c.4399 p.R1467W 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 83 0 0.00 79 5 5.95 KIAA2026 0 genome.wustl.edu 37 9 5968044 5968044 + Frame_Shift_Del DEL T T - TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 9 5968044 5968044 T - DEL KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel frame_shift_del c.2187 p.A730fs 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 tier1 44 0 0.00 35 4 10.26 KIF6 0 genome.wustl.edu 37 6 39513390 39513390 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 6 39513390 39513390 C T SNP KIF6 ENST00000287152 human ensembl 74_37 -1 known missense c.1256 p.R419H 1.000 NULL 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 - - 86 0 0.00 98 6 5.77 KLF12 0 genome.wustl.edu 37 13 74518163 74518163 + Missense_Mutation SNP C C A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 13 74518163 74518163 C A SNP KLF12 ENST00000377666 human ensembl 74_37 -1 known missense c.78 p.M26I 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF12 HGNC ENSG00000118922 tier1 - - 60 0 0.00 44 4 8.33 L1TD1 0 genome.wustl.edu 37 1 62675655 62675657 + In_Frame_Del DEL GGA GGA - TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 1 62675655 62675657 GGA - DEL L1TD1 ENST00000498273 human ensembl 74_37 +1 known in_frame_del c.1209_1211 p.E407in_frame_del 0.002:0.001:0.000 NULL pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 tier1 33 0 0.00 43 4 8.51 LAMB4 0 genome.wustl.edu 37 7 107748211 107748211 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 7 107748211 107748211 G T SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.456 p.N152K 0.979 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 tier1 - - 97 0 0.00 74 5 6.33 LDOC1 0 genome.wustl.edu 37 X 140271053 140271053 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 X 140271053 140271053 G A SNP LDOC1 ENST00000370526 human ensembl 74_37 -1 known missense c.154 p.P52S 1.000 NULL NULL - no_errors LDOC1 HGNC ENSG00000182195 49 0 0.00 58 4 6.35 LECT1 0 genome.wustl.edu 37 13 53277879 53277879 + Missense_Mutation SNP A A G TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 13 53277879 53277879 A G SNP LECT1 ENST00000377962 human ensembl 74_37 -1 known missense c.856 p.C286R 1.000 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors LECT1 HGNC ENSG00000136110 tier1 - - 54 0 0.00 65 14 17.72 LECT1 0 genome.wustl.edu 37 13 53298171 53298171 + Silent SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 13 53298171 53298171 C T SNP LECT1 ENST00000377962 human ensembl 74_37 -1 known silent c.429 p.E143 0.993 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors LECT1 HGNC ENSG00000136110 tier1 - - 42 0 0.00 57 11 16.18 LINC00272 0 genome.wustl.edu 37 1 182377033 182377033 + RNA SNP A A C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 1 182377033 182377033 A C SNP LINC00272 ENST00000367563 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors LINC00272 HGNC ENSG00000203729 tier1 - - 75 0 0.00 54 7 11.48 LOC643733 0 genome.wustl.edu 37 11 104779415 104779418 + RNA DEL CACA CACA - TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 CACA CACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 11 104779415 104779418 CACA - DEL LOC643733 ENST00000530264 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors RP11-693N9.2 Clone_based_vega_gene ENSG00000235505 tier1 10 0 0.00 8 5 38.46 LRP1B 0 genome.wustl.edu 37 2 141459407 141459407 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 2 141459407 141459407 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.6310 p.A2104T 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 49 0 0.00 49 4 7.55 LTBP2 0 genome.wustl.edu 37 14 75022360 75022360 + Silent SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 14 75022360 75022360 C T SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known silent c.867 p.Q289 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 34 0 0.00 35 2 5.41 LYZ 0 genome.wustl.edu 37 12 69746033 69746033 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 12 69746033 69746033 C T SNP LYZ ENST00000261267 human ensembl 74_37 +1 known missense c.335 p.A112V 0.000 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22_lys,prints_Glyco_hydro_22 pfam_Glyco_hydro_22,pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22_lys,prints_Glyco_hydro_22 - no_errors LYZ HGNC ENSG00000090382 tier1 - - 77 0 0.00 64 5 7.25 MACF1 0 genome.wustl.edu 37 1 39951255 39951255 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 1 39951255 39951255 G A SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.16082 p.R5361Q 0.989 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 84 0 0.00 64 4 5.88 MAG 0 genome.wustl.edu 37 19 35800943 35800943 + Silent SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 19 35800943 35800943 C T SNP MAG ENST00000392213 human ensembl 74_37 +1 known silent c.1398 p.S466 0.420 NULL pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 tier1 - - 91 0 0.00 89 5 5.32 MDN1 0 genome.wustl.edu 37 6 90365589 90365589 + Silent SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 6 90365589 90365589 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.15384 p.S5128 0.002 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 - - 37 0 0.00 29 4 12.12 MGAM 0 genome.wustl.edu 37 7 141631634 141631635 + RNA INS - - A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 7 141631634 141631635 - A INS MGAM ENST00000497554 human ensembl 74_37 +1 known rna NULL NULL 0.014:0.007 - - - no_errors MGAM HGNC ENSG00000257335 tier1 23 0 0.00 23 3 11.54 MICAL2 0 genome.wustl.edu 37 11 12278459 12278459 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 11 12278459 12278459 G A SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.3083 p.R1028H 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 38 0 0.00 38 2 5.00 MIR2110 0 genome.wustl.edu 37 10 115933864 115933864 + RNA SNP C C A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 10 115933864 115933864 C A SNP MIR2110 ENST00000459421 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR2110 HGNC ENSG00000238742 tier1 - - 258 0 0.00 215 23 9.62 MMP14 0 genome.wustl.edu 37 14 23313594 23313594 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 14 23313594 23313594 G T SNP MMP14 ENST00000311852 human ensembl 74_37 +1 known missense c.1026 p.W342C 1.000 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP14 HGNC ENSG00000157227 tier1 - - 54 0 0.00 53 4 7.02 MON1B 0 genome.wustl.edu 37 16 77228742 77228742 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 16 77228742 77228742 G A SNP MON1B ENST00000248248 human ensembl 74_37 +1 known missense c.986 p.R329H 1.000 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1B HGNC ENSG00000103111 59 0 0.00 54 4 6.90 MT-ND5 0 genome.wustl.edu 37 MT 12750 12750 + Silent SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 MT 12750 12750 C T SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known silent c.414 p.F138 NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 21 0 0.00 10 10 50.00 MT-ND5 0 genome.wustl.edu 37 MT 12979 12979 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 MT 12979 12979 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.643 p.G215S NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 13 0 0.00 19 3 13.64 MT-ND5 0 genome.wustl.edu 37 MT 13998 13998 + Silent SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 MT 13998 13998 C T SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known silent c.1662 p.D554 NULL pfam_NADH_DH_su5_C pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 27 0 0.00 32 3 8.57 MTRF1 0 genome.wustl.edu 37 13 41826690 41826691 + RNA INS - - A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 13 41826690 41826691 - A INS MTRF1 ENST00000239852 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MTRF1 HGNC ENSG00000120662 tier1 21 0 0.00 25 2 7.41 MUC4 0 genome.wustl.edu 37 3 195506357 195506357 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 3 195506357 195506357 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.12094 p.P4032S 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 23 0 0.00 4 4 50.00 MYH14 0 genome.wustl.edu 37 19 50785036 50785036 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 19 50785036 50785036 G A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.4476 p.M1492I 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 tier1 - - 83 0 0.00 60 11 15.49 NAA16 0 genome.wustl.edu 37 13 41932982 41932982 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 13 41932982 41932982 G T SNP NAA16 ENST00000379406 human ensembl 74_37 +1 known missense c.1294 p.D432Y 1.000 smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR-contain_dom pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 tier1 - - 71 0 0.00 70 4 5.41 NDFIP1 0 genome.wustl.edu 37 5 141511526 141511526 + RNA DEL A A - TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 5 141511526 141511526 A - DEL NDFIP1 ENST00000509436 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NDFIP1 HGNC ENSG00000131507 tier1 11 0 0.00 14 4 22.22 NOTCH1 0 genome.wustl.edu 37 9 139410452 139410452 + Nonsense_Mutation SNP G G C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 9 139410452 139410452 G C SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known nonsense c.1650 p.Y550* 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 - - 113 0 0.00 83 16 16.16 NOTCH1 0 genome.wustl.edu 37 9 139418432 139418432 + Splice_Site SNP C C A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 9 139418432 139418432 C A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known splice_site c.141-1 e3-1 1.000 - - - no_errors NOTCH1 HGNC ENSG00000148400 12 0 0.00 17 2 10.53 NPAP1 0 genome.wustl.edu 37 15 24921051 24921051 + Missense_Mutation SNP C C A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 15 24921051 24921051 C A SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.37 p.R13S 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 68 0 0.00 44 4 8.16 NPBWR1 0 genome.wustl.edu 37 8 53853167 53853167 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 8 53853167 53853167 C T SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.700 p.R234W 0.575 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 tier1 - - 59 0 0.00 66 6 8.33 NTRK2 0 genome.wustl.edu 37 9 87325707 87325707 + Splice_Site SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 9 87325707 87325707 G T SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known splice_site c.583+1 e5+1 1.000 - - - no_errors NTRK2 HGNC ENSG00000148053 67 0 0.00 71 4 5.33 NUP54 0 genome.wustl.edu 37 4 77053807 77053807 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 4 77053807 77053807 G T SNP NUP54 ENST00000264883 human ensembl 74_37 -1 known missense c.776 p.T259K 1.000 NULL NULL - no_errors NUP54 HGNC ENSG00000138750 74 0 0.00 72 4 5.26 OR10Q1 0 genome.wustl.edu 37 11 57995652 57995652 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 11 57995652 57995652 G T SNP OR10Q1 ENST00000316770 human ensembl 74_37 -1 known missense c.696 p.S232R 0.968 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Q1 HGNC ENSG00000180475 39 0 0.00 45 4 8.16 OR1A2 0 genome.wustl.edu 37 17 3101038 3101038 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 17 3101038 3101038 G A SNP OR1A2 ENST00000381951 human ensembl 74_37 +1 known missense c.226 p.V76I 0.523 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A2 HGNC ENSG00000172150 tier1 - - 62 0 0.00 63 7 10.00 OR6M1 0 genome.wustl.edu 37 11 123676901 123676901 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 11 123676901 123676901 G T SNP OR6M1 ENST00000309154 human ensembl 74_37 -1 known missense c.157 p.L53M 0.990 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6M1 HGNC ENSG00000196099 tier1 - - 83 0 0.00 73 4 5.19 OR8B4 0 genome.wustl.edu 37 11 124294671 124294671 + Missense_Mutation SNP C C A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 11 124294671 124294671 C A SNP OR8B4 ENST00000356130 human ensembl 74_37 -1 known missense c.97 p.G33W 0.059 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B4 HGNC ENSG00000198657 26 0 0.00 30 3 9.09 OTOF 0 genome.wustl.edu 37 2 26725257 26725257 + Silent SNP A A G TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 2 26725257 26725257 A G SNP OTOF ENST00000272371 human ensembl 74_37 -1 known silent c.621 p.H207 0.995 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 81 0 0.00 74 4 5.13 OTOP2 0 genome.wustl.edu 37 17 72929582 72929582 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 17 72929582 72929582 G A SNP OTOP2 ENST00000331427 human ensembl 74_37 +1 known missense c.1631 p.G544D 1.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP2 HGNC ENSG00000183034 69 0 0.00 55 4 6.78 PALM2-AKAP2 0 genome.wustl.edu 37 9 112898623 112898623 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 9 112898623 112898623 G T SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.799 p.G267C 1.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 tier1 - - 50 0 0.00 61 5 7.58 PARD3 0 genome.wustl.edu 37 10 34985330 34985331 + Frame_Shift_Ins INS - - A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 10 34985330 34985331 - A INS PARD3 ENST00000374789 human ensembl 74_37 -1 known frame_shift_ins c.138_137 p.Q47fs 1.000:1.000 pfam_DUF3534 pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 tier1 63 0 0.00 45 7 13.46 PARD3B 0 genome.wustl.edu 37 2 206305223 206305223 + Missense_Mutation SNP C C G TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 2 206305223 206305223 C G SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known missense c.2871 p.N957K 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 tier1 - - 112 0 0.00 107 7 6.14 PDE4D 0 genome.wustl.edu 37 5 58489358 58489358 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 5 58489358 58489358 C T SNP PDE4D ENST00000340635 human ensembl 74_37 -1 known missense c.652 p.G218R 1.000 NULL pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 tier1 - - 152 0 0.00 145 14 8.81 PHF2 0 genome.wustl.edu 37 9 96428105 96428105 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 9 96428105 96428105 C T SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.2075 p.P692L 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 tier1 - - 107 0 0.00 92 6 6.12 PIWIL2 0 genome.wustl.edu 37 8 22147810 22147810 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 8 22147810 22147810 G T SNP PIWIL2 ENST00000356766 human ensembl 74_37 +1 known missense c.1132 p.A378S 1.000 superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 tier1 - - 61 0 0.00 45 4 8.16 PLEKHD1 0 genome.wustl.edu 37 14 69968523 69968523 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 14 69968523 69968523 G T SNP PLEKHD1 ENST00000322564 human ensembl 74_37 +1 known missense c.483 p.K161N 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHD1 HGNC ENSG00000175985 94 0 0.00 76 4 5.00 PLXNA1 0 genome.wustl.edu 37 3 126733428 126733428 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 3 126733428 126733428 G T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.2712 p.K904N 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 tier1 - - 67 0 0.00 45 4 8.16 POTEE 0 genome.wustl.edu 37 2 131976381 131976381 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 2 131976381 131976381 C T SNP POTEE ENST00000356920 human ensembl 74_37 +1 known missense c.406 p.R136C 0.008 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 tier1 - - 284 0 0.00 290 19 6.15 POTEE 0 genome.wustl.edu 37 2 132021238 132021238 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 2 132021238 132021238 G A SNP POTEE ENST00000356920 human ensembl 74_37 +1 known missense c.2210 p.R737H 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 tier1 - - 48 0 0.00 42 6 12.50 PTGIR 0 genome.wustl.edu 37 19 47124901 47124901 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 19 47124901 47124901 G T SNP PTGIR ENST00000291294 human ensembl 74_37 -1 known missense c.797 p.P266H 0.185 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_IP_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_IP_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt - no_errors PTGIR HGNC ENSG00000160013 51 0 0.00 46 3 6.12 RBMXL3 0 genome.wustl.edu 37 X 114425012 114425012 + Silent SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 X 114425012 114425012 G A SNP RBMXL3 ENST00000424776 human ensembl 74_37 +1 known silent c.1008 p.S336 0.010 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 tier1 - - 45 0 0.00 41 5 10.87 RCE1 0 genome.wustl.edu 37 11 66613012 66613012 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 11 66613012 66613012 G T SNP RCE1 ENST00000309657 human ensembl 74_37 +1 known missense c.733 p.A245S 1.000 pfam_CAAX_protease pfam_CAAX_protease - no_errors RCE1 HGNC ENSG00000173653 30 0 0.00 34 4 10.53 RFC3 0 genome.wustl.edu 37 13 34405463 34405463 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 13 34405463 34405463 G T SNP RFC3 ENST00000380071 human ensembl 74_37 +1 known missense c.781 p.A261S 1.000 superfamily_DNA_pol3_clamp-load_cplx_C pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC3 HGNC ENSG00000133119 tier1 - - 52 0 0.00 59 5 7.81 RFX3 0 genome.wustl.edu 37 9 3270497 3270497 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 9 3270497 3270497 G T SNP RFX3 ENST00000382004 human ensembl 74_37 -1 known missense c.1231 p.P411T 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 tier1 - - 74 0 0.00 58 4 6.45 RHBDD2 0 genome.wustl.edu 37 7 75517670 75517670 + RNA SNP G G C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 7 75517670 75517670 G C SNP RHBDD2 ENST00000468304 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors RHBDD2 HGNC ENSG00000005486 tier1 - - 90 0 0.00 62 4 6.06 RIMS1 0 genome.wustl.edu 37 6 73000537 73000537 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 6 73000537 73000537 C T SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.3710 p.S1237L 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 75 0 0.00 79 9 10.23 RIMS2 0 genome.wustl.edu 37 8 104987676 104987676 + Nonsense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 8 104987676 104987676 C T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known nonsense c.2869 p.R957* 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 66 0 0.00 50 6 10.71 RNF26 0 genome.wustl.edu 37 11 119206725 119206725 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 11 119206725 119206725 C T SNP RNF26 ENST00000311413 human ensembl 74_37 +1 known missense c.893 p.A298V 0.983 NULL pfscan_Znf_RING - no_errors RNF26 HGNC ENSG00000173456 tier1 - - 74 0 0.00 59 4 6.35 RUNDC1 0 genome.wustl.edu 37 17 41143372 41143372 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 17 41143372 41143372 G T SNP RUNDC1 ENST00000361677 human ensembl 74_37 +1 known missense c.1481 p.R494L 1.000 pfam_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC1 HGNC ENSG00000198863 42 0 0.00 38 3 7.32 SAP130 0 genome.wustl.edu 37 2 128699655 128699655 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 2 128699655 128699655 G T SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known missense c.3177 p.D1059E 0.104 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 41 0 0.00 42 3 6.67 SCAP 0 genome.wustl.edu 37 3 47462600 47462600 + RNA SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 3 47462600 47462600 C T SNP SCAP ENST00000465628 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SCAP HGNC ENSG00000114650 tier1 - - 20 0 0.00 31 6 16.22 SLC2A10 0 genome.wustl.edu 37 20 45354253 45354253 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 20 45354253 45354253 C T SNP SLC2A10 ENST00000359271 human ensembl 74_37 +1 known missense c.578 p.A193V 0.010 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A10 HGNC ENSG00000197496 tier1 - - 36 0 0.00 50 4 7.41 SLC35A2 0 genome.wustl.edu 37 X 48762485 48762485 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 X 48762485 48762485 C T SNP SLC35A2 ENST00000452555 human ensembl 74_37 -1 known missense c.785 p.R262H 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A2 HGNC ENSG00000102100 53 0 0.00 39 3 7.14 SLC39A8 0 genome.wustl.edu 37 4 103226180 103226180 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 4 103226180 103226180 C T SNP SLC39A8 ENST00000356736 human ensembl 74_37 -1 known missense c.641 p.R214K 0.996 pfam_ZIP pfam_ZIP - no_errors SLC39A8 HGNC ENSG00000138821 tier1 - - 134 0 0.00 98 9 8.33 SLC7A14 0 genome.wustl.edu 37 3 170198789 170198789 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 3 170198789 170198789 G A SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.1282 p.L428F 1.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 tier1 - - 34 0 0.00 43 6 12.24 SMPDL3B 0 genome.wustl.edu 37 1 28271750 28271750 + Silent SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 1 28271750 28271750 C T SNP SMPDL3B ENST00000373894 human ensembl 74_37 +1 known silent c.69 p.F23 1.000 pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3B HGNC ENSG00000130768 tier1 - - 37 0 0.00 39 4 9.30 SRRT 0 genome.wustl.edu 37 7 100484984 100484984 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 7 100484984 100484984 G T SNP SRRT ENST00000388793 human ensembl 74_37 +1 known missense c.2016 p.L672F 1.000 pfam_Arsenite-R_2 pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 tier1 - - 55 0 0.00 44 4 8.33 ST3GAL6 0 genome.wustl.edu 37 3 98491723 98491723 + Missense_Mutation SNP C C A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 3 98491723 98491723 C A SNP ST3GAL6 ENST00000394162 human ensembl 74_37 +1 known missense c.234 p.S78R 0.750 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL6 HGNC ENSG00000064225 tier1 - - 88 0 0.00 69 4 5.48 STAB2 0 genome.wustl.edu 37 12 104102305 104102305 + Missense_Mutation SNP T T G TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 12 104102305 104102305 T G SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.4279 p.C1427G 0.998 smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 tier1 - - 91 0 0.00 84 5 5.62 STRBP 0 genome.wustl.edu 37 9 125898354 125898354 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 9 125898354 125898354 G A SNP STRBP ENST00000348403 human ensembl 74_37 -1 known missense c.1739 p.A580V 1.000 NULL pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STRBP HGNC ENSG00000165209 tier1 - - 59 0 0.00 49 4 7.55 TBC1D31 0 genome.wustl.edu 37 8 124089435 124089435 + Silent SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 8 124089435 124089435 C T SNP TBC1D31 ENST00000287380 human ensembl 74_37 +1 known silent c.162 p.G54 0.690 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors TBC1D31 HGNC ENSG00000156787 tier1 - - 69 0 0.00 55 6 9.84 TDRD5 0 genome.wustl.edu 37 1 179631288 179631288 + Missense_Mutation SNP A A C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 1 179631288 179631288 A C SNP TDRD5 ENST00000444136 human ensembl 74_37 +1 known missense c.2372 p.D791A 0.998 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 tier1 - - 125 0 0.00 95 16 14.41 THSD1 0 genome.wustl.edu 37 13 52960252 52960252 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 13 52960252 52960252 C T SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.1091 p.R364H 0.984 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 tier1 rs142793367 - 41 0 0.00 45 8 15.09 TIA1 0 genome.wustl.edu 37 2 70443921 70443921 + RNA SNP T T C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 2 70443921 70443921 T C SNP TIA1 ENST00000468787 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TIA1 HGNC ENSG00000116001 tier1 - - 40 0 0.00 25 4 13.79 TIAM2 0 genome.wustl.edu 37 6 155465783 155465783 + Missense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 6 155465783 155465783 G T SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.1674 p.M558I 0.018 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 36 0 0.00 35 3 7.89 TMEM184A 0 genome.wustl.edu 37 7 1588289 1588292 + Frame_Shift_Del DEL TAGA TAGA - TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 TAGA TAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 7 1588289 1588292 TAGA 0 DEL TMEM184A ENST00000297477 human ensembl 74_37 -1 known frame_shift_del c.680_677 p.I226fs 1.000:1.000:1.000:1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184A HGNC ENSG00000164855 130 0 0.00 112 8 6.67 TNKS2 0 genome.wustl.edu 37 10 93621795 93621795 + Missense_Mutation SNP C C A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 10 93621795 93621795 C A SNP TNKS2 ENST00000371627 human ensembl 74_37 +1 known missense c.3321 p.F1107L 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 tier1 - - 99 0 0.00 83 8 8.79 TTC24 0 genome.wustl.edu 37 1 156551658 156551658 + Nonsense_Mutation SNP G G T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 1 156551658 156551658 G T SNP TTC24 ENST00000368236 human ensembl 74_37 +1 known nonsense c.502 p.G168* 0.997 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC24 HGNC ENSG00000187862 64 0 0.00 64 4 5.88 TTN 0 genome.wustl.edu 37 2 179428548 179428548 + Silent SNP A A G TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 2 179428548 179428548 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.74607 p.G24869 0.954 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 77 0 0.00 64 4 5.88 TTN 0 genome.wustl.edu 37 2 179644145 179644145 + Silent SNP A A T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 2 179644145 179644145 A T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.3774 p.I1258 1.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 58 0 0.00 41 6 12.77 UBR1 0 genome.wustl.edu 37 15 43244495 43244495 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 15 43244495 43244495 C T SNP UBR1 ENST00000290650 human ensembl 74_37 -1 known missense c.4987 p.G1663R 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 34 0 0.00 41 4 8.89 UGT2B15 0 genome.wustl.edu 37 4 69513073 69513073 + Missense_Mutation SNP T T C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 4 69513073 69513073 T C SNP UGT2B15 ENST00000338206 human ensembl 74_37 -1 known missense c.1342 p.R448G 0.994 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ENSG00000196620 tier1 - - 162 0 0.00 162 10 5.78 USP32P1 0 genome.wustl.edu 37 17 16691337 16691337 + RNA DEL G G - TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 17 16691337 16691337 G - DEL USP32P1 ENST00000393005 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors USP32P1 HGNC ENSG00000188933 tier1 25 0 0.00 17 3 15.00 USP6 0 genome.wustl.edu 37 17 5066217 5066217 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 17 5066217 5066217 G A SNP USP6 ENST00000250066 human ensembl 74_37 +1 known missense c.2954 p.R985K 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 tier1 - - 181 0 0.00 167 14 7.73 VIPR1 0 genome.wustl.edu 37 3 42569359 42569359 + RNA SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 3 42569359 42569359 C T SNP VIPR1 ENST00000473575 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors VIPR1 HGNC ENSG00000114812 tier1 - - 30 0 0.00 30 4 11.76 VNN1 0 genome.wustl.edu 37 6 133032958 133032958 + Silent SNP A A C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 6 133032958 133032958 A C SNP VNN1 ENST00000367928 human ensembl 74_37 -1 known silent c.231 p.T77 1.000 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN1 HGNC ENSG00000112299 tier1 - - 109 0 0.00 96 6 5.88 XDH 0 genome.wustl.edu 37 2 31605937 31605937 + Missense_Mutation SNP T T C TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 2 31605937 31605937 T C SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.968 p.K323R 0.696 pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 tier1 - - 85 0 0.00 66 4 5.71 ZBTB38 0 genome.wustl.edu 37 3 141163939 141163939 + Silent SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 3 141163939 141163939 C T SNP ZBTB38 ENST00000321464 human ensembl 74_37 +1 known silent c.2712 p.F904 0.391 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 41 0 0.00 38 2 5.00 ZNF284 0 genome.wustl.edu 37 19 44590074 44590074 + Missense_Mutation SNP A A G TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 19 44590074 44590074 A G SNP ZNF284 ENST00000421176 human ensembl 74_37 +1 known missense c.443 p.E148G 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF284 HGNC ENSG00000186026 45 0 0.00 28 4 12.50 ZNF516 0 genome.wustl.edu 37 18 74153868 74153868 + Missense_Mutation SNP C C A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 18 74153868 74153868 C A SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known missense c.1143 p.Q381H 0.927 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 tier1 - - 36 0 0.00 40 5 11.11 ZNF551 0 genome.wustl.edu 37 19 58197860 58197860 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 19 58197860 58197860 G A SNP ZNF551 ENST00000282296 human ensembl 74_37 +1 known missense c.217 p.G73R 0.011 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 ZNF551 HGNC ENSG00000204519 79 0 0.00 86 5 5.49 ZNF835 0 genome.wustl.edu 37 19 57175168 57175168 + Missense_Mutation SNP C C T TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 19 57175168 57175168 C T SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.1399 p.V467M 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 tier1 - - 53 0 0.00 52 6 10.34 ZNHIT1 0 genome.wustl.edu 37 7 100866996 100866996 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 7 100866996 100866996 G A SNP ZNHIT1 ENST00000305105 human ensembl 74_37 +1 known missense c.316 p.A106T 1.000 NULL pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT1 HGNC ENSG00000106400 29 0 0.00 23 2 8.00 ZSCAN1 0 genome.wustl.edu 37 19 58549469 58549469 + Missense_Mutation SNP G G A TCGA-L5-A88T-01A-11D-A351-09 TCGA-L5-A88T-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0c0de631-e459-4b8a-9a6d-12ef96cd4db6 568152ed-685a-4d60-b2aa-bd470368a875 19 58549469 58549469 G A SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known missense c.265 p.A89T 0.002 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 58 0 0.00 66 8 10.81