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 ABCA13 0 genome.wustl.edu 37 7 48312054 48312054 + Missense_Mutation SNP T T A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 7 48312054 48312054 T A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.2791 p.S931T 0.017 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 41 0 0.00 47 17 26.56 ABHD3 0 genome.wustl.edu 37 18 19263897 19263897 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 18 19263897 19263897 G A SNP ABHD3 ENST00000289119 human ensembl 74_37 -1 known missense c.539 p.A180V 0.990 pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD3 HGNC ENSG00000158201 tier1 - - 65 0 0.00 108 35 24.48 ACTL7B 0 genome.wustl.edu 37 9 111617444 111617444 + Missense_Mutation SNP T T C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 9 111617444 111617444 T C SNP ACTL7B ENST00000374667 human ensembl 74_37 -1 known missense c.767 p.K256R 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7B HGNC ENSG00000148156 tier1 - - 58 0 0.00 42 5 10.64 ACY3 0 genome.wustl.edu 37 11 67414321 67414321 + Missense_Mutation SNP A A T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 11 67414321 67414321 A T SNP ACY3 ENST00000255082 human ensembl 74_37 -1 known missense c.194 p.V65E 0.699 pfam_Aste_AspA,pirsf_Aspartoacylase pfam_Aste_AspA,pirsf_Aspartoacylase - no_errors ACY3 HGNC ENSG00000132744 tier1 - - 19 0 0.00 51 11 17.74 ADAM17 0 genome.wustl.edu 37 2 9631238 9631238 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 2 9631238 9631238 G A SNP ADAM17 ENST00000310823 human ensembl 74_37 -1 known missense c.2125 p.H709Y 0.978 NULL pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 tier1 - - 50 0 0.00 51 12 19.05 AGMO 0 genome.wustl.edu 37 7 15433791 15433791 + Missense_Mutation SNP A A C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 7 15433791 15433791 A C SNP AGMO ENST00000342526 human ensembl 74_37 -1 known missense c.623 p.L208R 1.000 pfam_Fatty_acid_hydroxylase pfam_Fatty_acid_hydroxylase - no_errors AGMO HGNC ENSG00000187546 tier1 - - 75 0 0.00 70 6 7.89 ARAP1 0 genome.wustl.edu 37 11 72422095 72422095 + Missense_Mutation SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 11 72422095 72422095 C T SNP ARAP1 ENST00000393609 human ensembl 74_37 -1 known missense c.1184 p.R395Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 tier1 - - 86 0 0.00 90 50 35.71 ARHGEF28 0 genome.wustl.edu 37 5 73205717 73205717 + Missense_Mutation SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 5 73205717 73205717 C T SNP ARHGEF28 ENST00000545377 human ensembl 74_37 +1 known missense c.4642 p.P1548S 0.000 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 11 0 0.00 3 12 80.00 ASB18 0 genome.wustl.edu 37 2 237172985 237172985 + Missense_Mutation SNP A A G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 2 237172985 237172985 A G SNP ASB18 ENST00000409749 human ensembl 74_37 -1 known missense c.4 p.S2P 0.730 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB18 HGNC ENSG00000182177 tier1 - - 37 0 0.00 49 12 19.67 ATXN7L2 0 genome.wustl.edu 37 1 110032957 110032957 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 110032957 110032957 G A SNP ATXN7L2 ENST00000369870 human ensembl 74_37 +1 known missense c.1301 p.R434Q 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L2 HGNC ENSG00000162650 tier1 - - 52 0 0.00 56 10 15.15 BHLHE40 0 genome.wustl.edu 37 3 5024815 5024815 + Missense_Mutation SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 3 5024815 5024815 C T SNP BHLHE40 ENST00000256495 human ensembl 74_37 +1 known missense c.677 p.T226I 1.000 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors BHLHE40 HGNC ENSG00000134107 tier1 - - 60 0 0.00 46 5 9.80 BIRC3 0 genome.wustl.edu 37 11 102196269 102196269 + Nonsense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 11 102196269 102196269 G A SNP BIRC3 ENST00000263464 human ensembl 74_37 +1 known nonsense c.926 p.W309* 1.000 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC3 HGNC ENSG00000023445 tier1 - - 132 0 0.00 175 38 17.84 C1QTNF1 0 genome.wustl.edu 37 17 77042735 77042735 + Missense_Mutation SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 17 77042735 77042735 C T SNP C1QTNF1 ENST00000354124 human ensembl 74_37 +1 known missense c.284 p.P95L 0.979 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF1 HGNC ENSG00000173918 tier1 rs148307780 - 53 0 0.00 36 24 40.00 C7orf10 0 genome.wustl.edu 37 7 40277264 40277264 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 7 40277264 40277264 G A SNP C7orf10 ENST00000309930 human ensembl 74_37 +1 known missense c.536 p.R179Q 0.988 pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors C7orf10 HGNC ENSG00000175600 tier1 - - 55 0 0.00 44 17 27.87 CACNA1G 0 genome.wustl.edu 37 17 48680409 48680409 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 17 48680409 48680409 G A SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.4018 p.A1340T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 tier1 - - 118 0 0.00 81 55 40.44 CACTIN 0 genome.wustl.edu 37 19 3613162 3613162 + Missense_Mutation SNP G G C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 19 3613162 3613162 G C SNP CACTIN ENST00000221899 human ensembl 74_37 -1 known missense c.1476 p.S492R 1.000 NULL pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC ENSG00000105298 tier1 - - 29 0 0.00 49 7 12.50 CASP8AP2 0 genome.wustl.edu 37 6 90572093 90572093 + RNA SNP G G T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 6 90572093 90572093 G T SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.833 - - - no_errors CASP8AP2 HGNC ENSG00000118412 tier1 - - 113 0 0.00 142 42 22.83 CCDC178 0 genome.wustl.edu 37 18 30913323 30913323 + Missense_Mutation SNP G G T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 18 30913323 30913323 G T SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.694 p.Q232K 0.241 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 tier1 - - 57 0 0.00 26 20 43.48 CDC16 0 genome.wustl.edu 37 13 115012591 115012591 + RNA DEL T T - TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 13 115012591 115012591 T - DEL CDC16 ENST00000494581 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors CDC16 HGNC ENSG00000130177 tier1 11 0 0.00 11 4 26.67 CELF2 0 genome.wustl.edu 37 10 11363207 11363207 + Silent SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 10 11363207 11363207 C T SNP CELF2 ENST00000450189 human ensembl 74_37 +1 known silent c.1152 p.G384 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC ENSG00000048740 tier1 - - 73 0 0.00 82 19 18.81 CEP97 0 genome.wustl.edu 37 3 101484061 101484061 + Missense_Mutation SNP A A G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 3 101484061 101484061 A G SNP CEP97 ENST00000327230 human ensembl 74_37 +1 known missense c.2342 p.H781R 0.147 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC ENSG00000182504 tier1 - - 59 0 0.00 61 17 21.79 CNBD1 0 genome.wustl.edu 37 8 87878811 87878811 + Missense_Mutation SNP A A C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 8 87878811 87878811 A C SNP CNBD1 ENST00000518476 human ensembl 74_37 +1 known missense c.88 p.N30H 0.386 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 9 0 0.00 7 7 50.00 CNGA2 0 genome.wustl.edu 37 X 150912843 150912843 + Missense_Mutation SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de X 150912843 150912843 C T SNP CNGA2 ENST00000329903 human ensembl 74_37 +1 known missense c.1868 p.T623M 0.969 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 tier1 - - 41 0 0.00 73 27 27.00 CNGA3 0 genome.wustl.edu 37 2 98996664 98996664 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 2 98996664 98996664 G A SNP CNGA3 ENST00000272602 human ensembl 74_37 +1 known missense c.242 p.R81H 0.029 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 tier1 rs149230055 - 78 0 0.00 106 16 13.11 CNTLN 0 genome.wustl.edu 37 9 17226283 17226283 + Missense_Mutation SNP C C G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 9 17226283 17226283 C G SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.532 p.Q178E 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 44 0 0.00 26 5 16.13 COL12A1 0 genome.wustl.edu 37 6 75899318 75899318 + Missense_Mutation SNP A A C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 6 75899318 75899318 A C SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.608 p.L203R 0.989 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 78 0 0.00 75 19 20.21 COL14A1 0 genome.wustl.edu 37 8 121282391 121282391 + Missense_Mutation SNP A A C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 8 121282391 121282391 A C SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.3191 p.K1064T 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 tier1 - - 63 0 0.00 68 17 20.00 COPS3 0 genome.wustl.edu 37 17 17152314 17152314 + Missense_Mutation SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 17 17152314 17152314 C T SNP COPS3 ENST00000268717 human ensembl 74_37 -1 known missense c.1063 p.D355N 1.000 pfam_PCI_dom,smart_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors COPS3 HGNC ENSG00000141030 tier1 - - 73 0 0.00 94 6 6.00 CPNE3 0 genome.wustl.edu 37 8 87543432 87543432 + Missense_Mutation SNP G G C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 8 87543432 87543432 G C SNP CPNE3 ENST00000198765 human ensembl 74_37 +1 known missense c.362 p.R121T 0.769 superfamily_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE3 HGNC ENSG00000085719 tier1 - - 43 0 0.00 49 10 16.95 CSMD1 0 genome.wustl.edu 37 8 3432500 3432500 + Nonsense_Mutation SNP A A T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 8 3432500 3432500 A T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known nonsense c.1314 p.C438* 0.968 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 48 0 0.00 52 31 37.35 CSMD3 0 genome.wustl.edu 37 8 114111054 114111054 + Missense_Mutation SNP A A T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 8 114111054 114111054 A T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.848 p.F283Y 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 - - 37 0 0.00 47 14 22.95 CTIF 0 genome.wustl.edu 37 18 46284760 46284760 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 18 46284760 46284760 G A SNP CTIF ENST00000382998 human ensembl 74_37 +1 known missense c.1055 p.R352Q 1.000 NULL pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 tier1 - - 365 0 0.00 164 68 29.31 CWC22 0 genome.wustl.edu 37 2 180819008 180819008 + Missense_Mutation SNP C C G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 2 180819008 180819008 C G SNP CWC22 ENST00000295749 human ensembl 74_37 -1 known missense c.1613 p.R538P 1.000 pfam_Initiation_fac_eIF4g_MI,smart_Initiation_fac_eIF4g_MI pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors CWC22 HGNC ENSG00000163510 tier1 - - 29 0 0.00 37 13 26.00 CYP4Z1 0 genome.wustl.edu 37 1 47581140 47581140 + RNA DEL A A - TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 47581140 47581140 A - DEL CYP4Z1 ENST00000471598 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors CYP4Z1 HGNC ENSG00000186160 tier1 12 0 0.00 20 5 20.00 DCHS2 0 genome.wustl.edu 37 4 155236958 155236958 + Silent SNP T T C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 4 155236958 155236958 T C SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known silent c.3837 p.K1279 0.594 pfam_Cadherin,superfamily_Cadherin-like,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 - - 79 0 0.00 72 25 25.77 DDX11L1 0 genome.wustl.edu 37 1 13380 13380 + RNA SNP C C G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 13380 13380 C G SNP DDX11L1 ENST00000456328 human ensembl 74_37 +1 known rna NULL NULL 0.966 - - - no_errors DDX11L1 HGNC ENSG00000223972 tier1 - - 12 0 0.00 5 3 37.50 DEFB119 0 genome.wustl.edu 37 20 29965225 29965225 + Nonsense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 20 29965225 29965225 G A SNP DEFB119 ENST00000376321 human ensembl 74_37 -1 known nonsense c.79 p.R27* 0.000 NULL NULL - no_errors DEFB119 HGNC ENSG00000180483 tier1 - - 93 0 0.00 179 62 25.73 DHX57 0 genome.wustl.edu 37 2 39029991 39029991 + Nonsense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 2 39029991 39029991 G A SNP DHX57 ENST00000295373 human ensembl 74_37 -1 known nonsense c.3883 p.R1295* 1.000 pfam_DUF1605 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 - - 88 0 0.00 86 39 31.20 DNM1P46 0 genome.wustl.edu 37 15 100340123 100340125 + RNA DEL AGA AGA - TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 15 100340123 100340125 AGA - DEL DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.899:0.883:0.880 - - - no_errors DNM1P46 HGNC ENSG00000182397 tier1 22 0 0.00 19 6 24.00 ELOVL2 0 genome.wustl.edu 37 6 10989963 10989963 + Silent SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 6 10989963 10989963 G A SNP ELOVL2 ENST00000354666 human ensembl 74_37 -1 known silent c.738 p.V246 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL2 HGNC ENSG00000197977 52 0 0.00 34 7 17.07 ENSG00000235513 0 genome.wustl.edu 37 22 41605654 41605654 + RNA SNP A A T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 22 41605654 41605654 A T SNP ENSG00000235513 ENST00000441316 human ensembl 74_37 -1 known rna NULL NULL 0.053 - - - no_errors RP4-756G23.5 Clone_based_vega_gene ENSG00000235513 tier1 - - 80 0 0.00 74 26 26.00 ENSG00000236957 0 genome.wustl.edu 37 1 157895826 157895826 + RNA SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 157895826 157895826 C T SNP ENSG00000236957 ENST00000452528 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-451O13.1 Clone_based_vega_gene ENSG00000236957 tier1 - - 11 0 0.00 10 10 50.00 ENSG00000257275 0 genome.wustl.edu 37 14 96178149 96178150 + RNA DEL AG AG - TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 14 96178149 96178150 AG - DEL ENSG00000257275 ENST00000547644 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors RP11-164H13.1 Clone_based_vega_gene ENSG00000257275 tier1 15 0 0.00 28 3 9.68 EPDR1 0 genome.wustl.edu 37 7 37988614 37988614 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 7 37988614 37988614 G A SNP EPDR1 ENST00000559325 human ensembl 74_37 +1 known missense c.802 p.V268I 0.994 pfam_Ependymin,smart_Ependymin pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 tier1 - - 51 0 0.00 20 34 62.96 EPHA3 0 genome.wustl.edu 37 3 89391029 89391029 + Missense_Mutation SNP A A C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 3 89391029 89391029 A C SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.1095 p.K365N 0.958 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 tier1 - - 66 0 0.00 68 24 26.09 EPHB6 0 genome.wustl.edu 37 7 142562155 142562155 + Silent SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 7 142562155 142562155 G A SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known silent c.597 p.R199 0.837 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 tier1 - - 174 0 0.00 163 32 16.41 FBXL20 0 genome.wustl.edu 37 17 37441743 37441743 + Missense_Mutation SNP A A G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 17 37441743 37441743 A G SNP FBXL20 ENST00000264658 human ensembl 74_37 -1 known missense c.482 p.L161P 0.998 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL20 HGNC ENSG00000108306 tier1 - - 47 0 0.00 37 10 20.83 FBXW7 0 genome.wustl.edu 37 4 153245339 153245339 + Nonsense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 4 153245339 153245339 G A SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known nonsense c.1852 p.Q618* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 tier1 - - 51 0 0.00 27 28 50.91 FOXP1 0 genome.wustl.edu 37 3 71008342 71008342 + RNA DEL T T - TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 3 71008342 71008342 T - DEL FOXP1 ENST00000460805 human ensembl 74_37 -1 known rna NULL NULL 0.439 - - - no_errors FOXP1 HGNC ENSG00000114861 tier1 37 0 0.00 36 5 12.20 FZD6 0 genome.wustl.edu 37 8 104330965 104330965 + Frame_Shift_Del DEL T T - TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 8 104330965 104330965 T - DEL FZD6 ENST00000358755 human ensembl 74_37 +1 known frame_shift_del c.325 p.L109fs 0.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 tier1 58 0 0.00 47 26 35.62 FZD6 0 genome.wustl.edu 37 8 104330969 104330970 + Frame_Shift_Del DEL TT TT - TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 8 104330969 104330970 TT - DEL FZD6 ENST00000358755 human ensembl 74_37 +1 known frame_shift_del c.329_330 p.I110fs 0.928:0.313 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 tier1 56 0 0.00 45 28 38.36 GJD2 0 genome.wustl.edu 37 15 35045156 35045156 + Silent SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 15 35045156 35045156 C T SNP GJD2 ENST00000290374 human ensembl 74_37 -1 known silent c.489 p.E163 1.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC ENSG00000159248 tier1 - - 160 0 0.00 105 74 41.34 GPRC6A 0 genome.wustl.edu 37 6 117127959 117127959 + Silent SNP A A G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 6 117127959 117127959 A G SNP GPRC6A ENST00000310357 human ensembl 74_37 -1 known silent c.909 p.D303 0.918 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 tier1 - - 53 0 0.00 66 15 18.52 GRM8 0 genome.wustl.edu 37 7 126079090 126079090 + RNA SNP C C A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 7 126079090 126079090 C A SNP GRM8 ENST00000489939 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GRM8 HGNC ENSG00000179603 tier1 - - 36 0 0.00 25 7 21.88 GUCY2F 0 genome.wustl.edu 37 X 108641869 108641869 + Silent SNP A A G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de X 108641869 108641869 A G SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known silent c.2184 p.S728 0.826 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 pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 tier1 - - 32 0 0.00 22 20 46.51 HDAC2 0 genome.wustl.edu 37 6 114281095 114281095 + Missense_Mutation SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 6 114281095 114281095 C T SNP HDAC2 ENST00000398283 human ensembl 74_37 -1 known missense c.422 p.G141D 1.000 pfam_His_deacetylse_dom,prints_His_deacetylse_1 pfam_His_deacetylse_dom,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC2 HGNC ENSG00000196591 tier1 - - 83 0 0.00 103 16 13.45 HECW1 0 genome.wustl.edu 37 7 43548708 43548708 + Missense_Mutation SNP A A C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 7 43548708 43548708 A C SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.4007 p.N1336T 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT 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 - - 102 0 0.00 108 37 25.52 HMGB4 0 genome.wustl.edu 37 1 34329841 34329841 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 34329841 34329841 G A SNP HMGB4 ENST00000519684 human ensembl 74_37 +1 known missense c.49 p.V17I 0.988 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB4 HGNC ENSG00000176256 tier1 - - 104 0 0.00 100 25 20.00 HPS6 0 genome.wustl.edu 37 10 103826021 103826021 + Missense_Mutation SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 10 103826021 103826021 C T SNP HPS6 ENST00000299238 human ensembl 74_37 +1 known missense c.790 p.P264S 0.002 pirsf_BLOC-2_complex_Hps6_subunit pirsf_BLOC-2_complex_Hps6_subunit - no_errors HPS6 HGNC ENSG00000166189 tier1 - - 45 0 0.00 57 5 8.06 HSPA14 0 genome.wustl.edu 37 10 14890640 14890640 + Missense_Mutation SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 10 14890640 14890640 C T SNP HSPA14 ENST00000378372 human ensembl 74_37 +1 known missense c.254 p.A85V 0.001 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA14 HGNC ENSG00000187522 tier1 - - 56 0 0.00 40 11 21.57 HSPG2 0 genome.wustl.edu 37 1 22211058 22211058 + Missense_Mutation SNP C C G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 22211058 22211058 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.1617 p.Q539H 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 - - 96 0 0.00 127 30 19.11 HTR2C 0 genome.wustl.edu 37 X 113965795 113965795 + Missense_Mutation SNP G G C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de X 113965795 113965795 G C SNP HTR2C ENST00000276198 human ensembl 74_37 +1 known missense c.128 p.G43A 0.998 prints_5HT2C_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 tier1 - - 83 0 0.00 85 51 37.50 IGSF1 0 genome.wustl.edu 37 X 130411040 130411040 + Silent SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de X 130411040 130411040 C T SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known silent c.2496 p.P832 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 tier1 - - 118 0 0.00 149 68 31.19 ILDR2 0 genome.wustl.edu 37 1 166904577 166904577 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 166904577 166904577 G A SNP ILDR2 ENST00000271417 human ensembl 74_37 -1 known missense c.841 p.P281S 1.000 NULL pfam_LISCH7,smart_Ig_sub - no_errors ILDR2 HGNC ENSG00000143195 tier1 - - 66 0 0.00 65 12 15.38 INO80 0 genome.wustl.edu 37 15 41372020 41372020 + Missense_Mutation SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 15 41372020 41372020 C T SNP INO80 ENST00000361937 human ensembl 74_37 -1 known missense c.1010 p.R337H 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 tier1 - - 133 0 0.00 91 38 29.46 IRS4 0 genome.wustl.edu 37 X 107978752 107978752 + Missense_Mutation SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de X 107978752 107978752 C T SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.823 p.V275M 1.000 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 tier1 - - 29 0 0.00 35 14 28.57 ITPKB 0 genome.wustl.edu 37 1 226925047 226925047 + Missense_Mutation SNP C C A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 226925047 226925047 C A SNP ITPKB ENST00000272117 human ensembl 74_37 -1 known missense c.113 p.R38M 0.921 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 tier1 - - 12 0 0.00 15 10 40.00 KCNA4 0 genome.wustl.edu 37 11 30033580 30033580 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 11 30033580 30033580 G A SNP KCNA4 ENST00000328224 human ensembl 74_37 -1 known missense c.646 p.R216C 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1 pfam_K_chnl_volt-dep_Kv1.4_TID,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_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 tier1 - - 71 0 0.00 75 31 29.25 KCNA6 0 genome.wustl.edu 37 12 4919303 4919303 + Silent SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 12 4919303 4919303 C T SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known silent c.96 p.G32 0.034 prints_K_chnl_volt-dep_Kv1.6 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 - - 42 0 0.00 42 17 28.81 KCNAB2 0 genome.wustl.edu 37 1 6145275 6145275 + Missense_Mutation SNP T T C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 6145275 6145275 T C SNP KCNAB2 ENST00000378083 human ensembl 74_37 +1 known missense c.392 p.V131A 0.997 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB2 HGNC ENSG00000069424 tier1 - - 124 0 0.00 107 29 21.32 KCNH7 0 genome.wustl.edu 37 2 163360987 163360987 + Missense_Mutation SNP T T C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 2 163360987 163360987 T C SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known missense c.1094 p.D365G 0.999 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 tier1 - - 104 0 0.00 171 29 14.50 KDELC2 0 genome.wustl.edu 37 11 108350175 108350175 + Nonsense_Mutation SNP A A T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 11 108350175 108350175 A T SNP KDELC2 ENST00000323468 human ensembl 74_37 -1 known nonsense c.1146 p.Y382* 0.170 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC2 HGNC ENSG00000178202 tier1 - - 63 0 0.00 64 47 41.96 KIAA0100 0 genome.wustl.edu 37 17 26961875 26961875 + Silent SNP T T C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 17 26961875 26961875 T C SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known silent c.2730 p.L910 0.945 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 tier1 - - 200 0 0.00 148 128 46.38 KIF18A 0 genome.wustl.edu 37 11 28119199 28119199 + Missense_Mutation SNP C C A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 11 28119199 28119199 C A SNP KIF18A ENST00000263181 human ensembl 74_37 -1 known missense c.296 p.R99L 0.994 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 KIF18A HGNC ENSG00000121621 20 0 0.00 35 4 10.26 LAMC3 0 genome.wustl.edu 37 9 133954556 133954556 + Missense_Mutation SNP A A C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 9 133954556 133954556 A C SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known missense c.3798 p.E1266D 0.035 NULL pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 tier1 - - 15 0 0.00 23 9 28.12 LARP7 0 genome.wustl.edu 37 4 113574392 113574392 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 4 113574392 113574392 G A SNP LARP7 ENST00000324052 human ensembl 74_37 +1 known missense c.1576 p.G526S 1.000 pfam_RRM_3 pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 tier1 - - 55 0 0.00 41 10 19.61 LILRB1 0 genome.wustl.edu 37 19 55143050 55143050 + Missense_Mutation SNP A A G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 19 55143050 55143050 A G SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known missense c.170 p.E57G 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 tier1 - - 74 0 0.00 35 55 61.11 LOC101928623 0 genome.wustl.edu 37 7 30563924 30563925 + RNA INS - - G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 7 30563924 30563925 - G INS LOC101928623 ENST00000580902 human ensembl 74_37 -1 known rna NULL NULL 0.016:0.013 - - - no_errors AC005154.6 Clone_based_vega_gene ENSG00000196295 tier1 20 0 0.00 12 4 25.00 LOC101928623 0 genome.wustl.edu 37 7 30563925 30563926 + RNA INS - - ATG TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 7 30563925 30563926 - ATG INS LOC101928623 ENST00000580902 human ensembl 74_37 -1 known rna NULL NULL 0.013:0.010 - - - no_errors AC005154.6 Clone_based_vega_gene ENSG00000196295 tier1 20 0 0.00 12 4 25.00 LPPR4 0 genome.wustl.edu 37 1 99767366 99767366 + Silent SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 99767366 99767366 C T SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known silent c.879 p.C293 0.992 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 tier1 rs142067527 - 58 0 0.00 78 46 36.80 LPPR5 0 genome.wustl.edu 37 1 99422223 99422223 + Missense_Mutation SNP A A C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 99422223 99422223 A C SNP LPPR5 ENST00000263177 human ensembl 74_37 -1 known missense c.312 p.I104M 0.984 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR5 Uniprot_gn ENSG00000117598 tier1 - - 43 0 0.00 39 22 35.48 LRIT2 0 genome.wustl.edu 37 10 85984169 85984169 + Missense_Mutation SNP G G C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 10 85984169 85984169 G C SNP LRIT2 ENST00000538192 human ensembl 74_37 -1 known missense c.812 p.T271S 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT2 HGNC ENSG00000204033 tier1 - - 47 0 0.00 27 39 59.09 LRRCC1 0 genome.wustl.edu 37 8 86047189 86047189 + Silent SNP G G T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 8 86047189 86047189 G T SNP LRRCC1 ENST00000360375 human ensembl 74_37 +1 known silent c.2076 p.L692 0.980 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 tier1 - - 106 0 0.00 105 26 19.85 MAGEC3 0 genome.wustl.edu 37 X 140984902 140984902 + Missense_Mutation SNP G G T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de X 140984902 140984902 G T SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.1358 p.R453M 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 tier1 - - 33 0 0.00 26 17 39.53 MAP7D3 0 genome.wustl.edu 37 X 135328309 135328310 + Splice_Site INS - - A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de X 135328309 135328310 - A INS MAP7D3 ENST00000370663 human ensembl 74_37 -1 known splice_site_ins c.116-3_116-2 e3-2 0.444:0.001 - - - no_errors MAP7D3 HGNC ENSG00000129680 tier1 32 0 0.00 43 4 8.51 MAPKAP1 0 genome.wustl.edu 37 9 128434607 128434607 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 9 128434607 128434607 G A SNP MAPKAP1 ENST00000265960 human ensembl 74_37 -1 known missense c.247 p.R83C 1.000 pfam_SIN1 pfam_SIN1 - no_errors MAPKAP1 HGNC ENSG00000119487 tier1 - - 67 0 0.00 85 17 16.67 MED14 0 genome.wustl.edu 37 X 40551964 40551964 + Missense_Mutation SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de X 40551964 40551964 C T SNP MED14 ENST00000324817 human ensembl 74_37 -1 known missense c.1841 p.R614H 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 tier1 - - 47 0 0.00 60 5 7.69 MED8 0 genome.wustl.edu 37 1 43850143 43850143 + Frame_Shift_Del DEL T T - TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 43850143 43850143 T - DEL MED8 ENST00000290663 human ensembl 74_37 -1 known frame_shift_del c.884 p.N295fs 0.000 NULL pfam_Mediatior_Med8_fun/met - no_errors MED8 HGNC ENSG00000159479 tier1 21 0 0.00 18 3 14.29 MSH6 0 genome.wustl.edu 37 2 48027868 48027868 + Missense_Mutation SNP T T C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 2 48027868 48027868 T C SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known missense c.2746 p.F916L 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 tier1 - - 59 0 0.00 55 26 32.10 MSN 0 genome.wustl.edu 37 X 64936751 64936751 + Missense_Mutation SNP G G C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de X 64936751 64936751 G C SNP MSN ENST00000360270 human ensembl 74_37 +1 known missense c.84 p.Q28H 1.000 pirsf_ERM,pfam_FERM_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 tier1 - - 18 0 0.00 32 13 28.89 MTUS1 0 genome.wustl.edu 37 8 17613147 17613147 + Missense_Mutation SNP T T G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 8 17613147 17613147 T G SNP MTUS1 ENST00000262102 human ensembl 74_37 -1 known missense c.170 p.D57A 0.635 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 tier1 - - 115 0 0.00 86 32 27.12 MUC15 0 genome.wustl.edu 37 11 26582672 26582672 + Missense_Mutation SNP T T G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 11 26582672 26582672 T G SNP MUC15 ENST00000436318 human ensembl 74_37 -1 known missense c.1026 p.E342D 0.545 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 tier1 - - 59 0 0.00 49 26 34.67 MUC16 0 genome.wustl.edu 37 19 8976825 8976825 + Missense_Mutation SNP A A C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 19 8976825 8976825 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.42241 p.F14081V 1.000 pfam_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 21 0 0.00 20 8 28.57 MUC16 0 genome.wustl.edu 37 19 9048384 9048384 + Missense_Mutation SNP A A G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 19 9048384 9048384 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.33247 p.S11083P 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 53 0 0.00 34 36 50.70 MUC5AC 0 genome.wustl.edu 37 11 1212849 1212849 + RNA SNP T T C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 11 1212849 1212849 T C SNP MUC5AC ENST00000358378 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors MUC5AC HGNC ENSG00000215182 tier1 - - 61 0 0.00 42 6 12.50 MYH4 0 genome.wustl.edu 37 17 10352331 10352331 + Missense_Mutation SNP T T G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 17 10352331 10352331 T G SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.4215 p.E1405D 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 tier1 - - 46 0 0.00 48 13 21.31 MYH7 0 genome.wustl.edu 37 14 23894183 23894183 + Missense_Mutation SNP T T A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 14 23894183 23894183 T A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.2474 p.K825M 1.000 superfamily_P-loop_NTPase pfam_Myosin_tail,pfam_Myosin_head_motor_dom,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 MYH7 HGNC ENSG00000092054 tier1 - - 70 0 0.00 47 18 27.69 NEB 0 genome.wustl.edu 37 2 152534446 152534446 + Missense_Mutation SNP A A C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 2 152534446 152534446 A C SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.3511 p.L1171V 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 31 0 0.00 48 17 26.15 NIF3L1 0 genome.wustl.edu 37 2 201756838 201756838 + Missense_Mutation SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 2 201756838 201756838 C T SNP NIF3L1 ENST00000409020 human ensembl 74_37 +1 known missense c.172 p.P58S 1.000 pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3 pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3 - no_errors NIF3L1 HGNC ENSG00000196290 tier1 - - 56 0 0.00 95 15 13.64 NIPBL 0 genome.wustl.edu 37 5 37010243 37010243 + Silent SNP A A G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 5 37010243 37010243 A G SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known silent c.4476 p.A1492 0.982 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 tier1 - - 51 0 0.00 99 10 9.09 NR1D2 0 genome.wustl.edu 37 3 23997559 23997559 + Silent SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 3 23997559 23997559 C T SNP NR1D2 ENST00000312521 human ensembl 74_37 +1 known silent c.315 p.V105 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,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 NR1D2 HGNC ENSG00000174738 tier1 - - 141 0 0.00 138 10 6.76 NRXN1 0 genome.wustl.edu 37 2 50280557 50280557 + Missense_Mutation SNP A A C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 2 50280557 50280557 A C SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.3956 p.V1319G 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 83 0 0.00 53 20 27.40 NTRK1 0 genome.wustl.edu 37 1 156844188 156844188 + Silent SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 156844188 156844188 G A SNP NTRK1 ENST00000524377 human ensembl 74_37 +1 known silent c.1191 p.P397 0.910 prints_Tyr_kinase_neurotrophic_rcpt_1 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC ENSG00000198400 tier1 - - 151 0 0.00 158 45 22.17 NUP98 0 genome.wustl.edu 37 11 3797122 3797122 + Missense_Mutation SNP A A T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 11 3797122 3797122 A T SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.485 p.I162N 0.999 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 tier1 - - 84 0 0.00 75 23 23.47 OR2J1 0 genome.wustl.edu 37 6 29068986 29068986 + Silent SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 6 29068986 29068986 G A SNP OR2J1 ENST00000377171 human ensembl 74_37 +1 known silent c.267 p.P89 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 tier1 - - 80 0 0.00 60 53 46.90 OR2T8 0 genome.wustl.edu 37 1 248084781 248084781 + Silent SNP G G C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 248084781 248084781 G C SNP OR2T8 ENST00000319968 human ensembl 74_37 +1 known silent c.462 p.G154 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T8 HGNC ENSG00000177462 tier1 rs150530326 - 13 0 0.00 10 7 41.18 OR52K2 0 genome.wustl.edu 37 11 4470882 4470882 + Missense_Mutation SNP T T A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 11 4470882 4470882 T A SNP OR52K2 ENST00000325719 human ensembl 74_37 +1 known missense c.313 p.F105I 0.993 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52K2 HGNC ENSG00000181963 tier1 - - 52 0 0.00 44 15 25.42 OR52M1 0 genome.wustl.edu 37 11 4567337 4567337 + Missense_Mutation SNP T T G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 11 4567337 4567337 T G SNP OR52M1 ENST00000360213 human ensembl 74_37 +1 known missense c.917 p.L306R 0.230 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52M1 HGNC ENSG00000197790 tier1 - - 38 0 0.00 37 17 31.48 OR6C75 0 genome.wustl.edu 37 12 55759191 55759192 + Frame_Shift_Ins INS - - T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 12 55759191 55759192 - T INS OR6C75 ENST00000343399 human ensembl 74_37 +1 known frame_shift_ins c.297_298 p.I102fs 0.002:0.964 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C75 HGNC ENSG00000187857 tier1 169 0 0.00 131 42 24.28 OR6N2 0 genome.wustl.edu 37 1 158746998 158746998 + Missense_Mutation SNP T T G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 158746998 158746998 T G SNP OR6N2 ENST00000339258 human ensembl 74_37 -1 known missense c.428 p.K143T 0.344 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N2 HGNC ENSG00000188340 tier1 - - 44 0 0.00 41 14 25.45 OR8J1 0 genome.wustl.edu 37 11 56127754 56127754 + Missense_Mutation SNP A A G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 11 56127754 56127754 A G SNP OR8J1 ENST00000303039 human ensembl 74_37 +1 known missense c.32 p.E11G 0.758 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J1 HGNC ENSG00000172487 tier1 - - 66 0 0.00 98 27 21.60 OSGEPL1 0 genome.wustl.edu 37 2 190618643 190618643 + Missense_Mutation SNP A A G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 2 190618643 190618643 A G SNP OSGEPL1 ENST00000264151 human ensembl 74_37 -1 known missense c.962 p.L321P 1.000 pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD - no_errors OSGEPL1 HGNC ENSG00000128694 tier1 - - 31 0 0.00 50 11 17.74 P4HA2 0 genome.wustl.edu 37 5 131530630 131530630 + Frame_Shift_Del DEL C C - TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 5 131530630 131530630 C - DEL P4HA2 ENST00000166534 human ensembl 74_37 -1 known frame_shift_del c.1526 p.G509fs 1.000 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA2 HGNC ENSG00000072682 tier1 56 0 0.00 76 11 12.64 PANX3 0 genome.wustl.edu 37 11 124481510 124481510 + Missense_Mutation SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 11 124481510 124481510 C T SNP PANX3 ENST00000284288 human ensembl 74_37 +1 known missense c.58 p.R20C 0.081 NULL pfam_Innexin,pfscan_Innexin - no_errors PANX3 HGNC ENSG00000154143 tier1 - - 25 0 0.00 37 5 11.90 PCDH17 0 genome.wustl.edu 37 13 58240632 58240632 + Missense_Mutation SNP A A T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 13 58240632 58240632 A T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.2596 p.M866L 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 tier1 - - 66 0 0.00 70 12 14.63 PEX11A 0 genome.wustl.edu 37 15 90226910 90226910 + Nonsense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 15 90226910 90226910 G A SNP PEX11A ENST00000300056 human ensembl 74_37 -1 known nonsense c.442 p.R148* 0.000 pfam_PEX11 pfam_PEX11 - no_errors PEX11A HGNC ENSG00000166821 tier1 - - 109 0 0.00 79 30 27.52 PIPSL 0 genome.wustl.edu 37 10 95719139 95719139 + RNA SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 10 95719139 95719139 G A SNP PIPSL ENST00000480546 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors PIPSL HGNC ENSG00000180764 tier1 - - 73 0 0.00 52 54 50.94 PPP1R10 0 genome.wustl.edu 37 6 30571951 30571951 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 6 30571951 30571951 G A SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known missense c.1342 p.R448W 1.000 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 tier1 - - 81 0 0.00 93 27 22.50 PRF1 0 genome.wustl.edu 37 10 72360526 72360526 + Missense_Mutation SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 10 72360526 72360526 C T SNP PRF1 ENST00000373209 human ensembl 74_37 -1 known missense c.133 p.G45R 0.991 NULL pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom - no_errors PRF1 HGNC ENSG00000180644 tier1 - - 35 0 0.00 11 7 38.89 PRIM2 0 genome.wustl.edu 37 6 57512657 57512657 + RNA SNP A A G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 6 57512657 57512657 A G SNP PRIM2 ENST00000389488 human ensembl 74_37 +1 known rna NULL NULL 0.077 - - - no_errors PRIM2 HGNC ENSG00000146143 tier1 - - 243 0 0.00 356 30 7.77 PRKCI 0 genome.wustl.edu 37 3 169998099 169998099 + Missense_Mutation SNP A A C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 3 169998099 169998099 A C SNP PRKCI ENST00000295797 human ensembl 74_37 +1 known missense c.790 p.S264R 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC ENSG00000163558 tier1 - - 59 0 0.00 51 14 21.54 PTCHD4 0 genome.wustl.edu 37 6 47976565 47976565 + Missense_Mutation SNP G G C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 6 47976565 47976565 G C SNP PTCHD4 ENST00000339488 human ensembl 74_37 -1 known missense c.712 p.L238V 1.000 pfam_Patched,pfscan_SSD pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 tier1 - - 32 0 0.00 30 20 40.00 PTGFRN 0 genome.wustl.edu 37 1 117516894 117516894 + Silent SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 117516894 117516894 C T SNP PTGFRN ENST00000393203 human ensembl 74_37 +1 known silent c.2116 p.L706 0.857 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PTGFRN HGNC ENSG00000134247 tier1 - - 116 0 0.00 95 21 18.10 PUS3 0 genome.wustl.edu 37 11 125763954 125763954 + Missense_Mutation SNP A A C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 11 125763954 125763954 A C SNP PUS3 ENST00000227474 human ensembl 74_37 -1 known missense c.1172 p.V391G 0.087 NULL pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA - no_errors PUS3 HGNC ENSG00000110060 tier1 - - 84 0 0.00 127 73 36.50 QRSL1 0 genome.wustl.edu 37 6 107088346 107088346 + Frame_Shift_Del DEL A A - TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 6 107088346 107088346 A - DEL QRSL1 ENST00000369046 human ensembl 74_37 +1 known frame_shift_del c.147 p.K50fs 1.000 pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA - no_errors QRSL1 HGNC ENSG00000130348 tier1 34 0 0.00 102 180 63.83 QTRTD1 0 genome.wustl.edu 37 3 113798794 113798794 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 3 113798794 113798794 G A SNP QTRTD1 ENST00000281273 human ensembl 74_37 +1 known missense c.788 p.C263Y 1.000 pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_tRNA_ribo_trans-like pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_tRNA_ribo_trans-like - no_errors QTRTD1 HGNC ENSG00000151576 tier1 rs199827335 - 134 0 0.00 113 86 43.22 RAD51AP2 0 genome.wustl.edu 37 2 17697694 17697694 + Silent SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 2 17697694 17697694 C T SNP RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known silent c.1989 p.K663 0.003 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 tier1 - - 27 0 0.00 32 5 13.51 RASGRF1 0 genome.wustl.edu 37 15 79292108 79292108 + Missense_Mutation SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 15 79292108 79292108 C T SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.2771 p.R924Q 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 tier1 - - 41 0 0.00 35 11 23.40 RETSAT 0 genome.wustl.edu 37 2 85571153 85571155 + In_Frame_Del DEL ACC ACC - TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 ACC ACC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 2 85571153 85571155 ACC - DEL RETSAT ENST00000295802 human ensembl 74_37 -1 known in_frame_del c.1502_1500 p.V501in_frame_del 0.000:0.000:0.000 NULL pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd - no_errors RETSAT HGNC ENSG00000042445 tier1 91 0 0.00 99 15 13.16 RFPL2 0 genome.wustl.edu 37 22 32588981 32588981 + Missense_Mutation SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 22 32588981 32588981 C T SNP RFPL2 ENST00000400237 human ensembl 74_37 -1 known missense c.464 p.R155Q 0.001 pfam_RDM_domain_RFPL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors RFPL2 HGNC ENSG00000128253 78 0 0.00 75 4 5.06 RNF128 0 genome.wustl.edu 37 X 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de X 105937256 105937256 T - DEL RNF128 ENST00000324342 human ensembl 74_37 +1 known frame_shift_del c.24 p.W11fs 0.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 tier1 26 0 0.00 40 4 9.09 RYR3 0 genome.wustl.edu 37 15 34080491 34080491 + Missense_Mutation SNP A A C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 15 34080491 34080491 A C SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.9662 p.K3221T 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 97 0 0.00 111 20 15.27 SCD5 0 genome.wustl.edu 37 4 83626457 83626457 + Silent SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 4 83626457 83626457 G A SNP SCD5 ENST00000319540 human ensembl 74_37 -1 known silent c.342 p.V114 0.043 pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core - no_errors SCD5 HGNC ENSG00000145284 tier1 - - 23 0 0.00 6 24 80.00 SCN3A 0 genome.wustl.edu 37 2 165950924 165950924 + Missense_Mutation SNP A A C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 2 165950924 165950924 A C SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.4496 p.L1499R 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 tier1 - - 216 0 0.00 254 121 32.18 SDCCAG8 0 genome.wustl.edu 37 1 243579011 243579011 + Nonsense_Mutation SNP A A T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 243579011 243579011 A T SNP SDCCAG8 ENST00000366541 human ensembl 74_37 +1 known nonsense c.1624 p.K542* 1.000 NULL NULL - no_errors SDCCAG8 HGNC ENSG00000054282 tier1 - - 50 0 0.00 75 14 15.73 SEMA6C 0 genome.wustl.edu 37 1 151110218 151110218 + Missense_Mutation SNP T T C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 151110218 151110218 T C SNP SEMA6C ENST00000368913 human ensembl 74_37 -1 known missense c.725 p.E242G 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6C HGNC ENSG00000143434 tier1 - - 49 0 0.00 55 15 21.43 SESN1 0 genome.wustl.edu 37 6 109311940 109311940 + Silent SNP A A C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 6 109311940 109311940 A C SNP SESN1 ENST00000436639 human ensembl 74_37 -1 known silent c.1332 p.L444 1.000 pfam_PA26 pfam_PA26 - no_errors SESN1 HGNC ENSG00000080546 tier1 - - 56 0 0.00 71 49 40.83 SHISA2 0 genome.wustl.edu 37 13 26621014 26621014 + Frame_Shift_Del DEL C C - TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 13 26621014 26621014 C - DEL SHISA2 ENST00000319420 human ensembl 74_37 -1 known frame_shift_del c.525 p.S176fs 0.597 NULL NULL - no_errors SHISA2 HGNC ENSG00000180730 tier1 45 0 0.00 59 16 21.33 SLC13A4 0 genome.wustl.edu 37 7 135377115 135377115 + Silent SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 7 135377115 135377115 G A SNP SLC13A4 ENST00000354042 human ensembl 74_37 -1 known silent c.1176 p.T392 0.971 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 tier1 - - 19 0 0.00 15 13 46.43 SLC13A5 0 genome.wustl.edu 37 17 6599064 6599064 + Missense_Mutation SNP A A G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 17 6599064 6599064 A G SNP SLC13A5 ENST00000433363 human ensembl 74_37 -1 known missense c.1036 p.W346R 0.974 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A5 HGNC ENSG00000141485 tier1 - - 83 0 0.00 56 16 22.22 SLC22A10 0 genome.wustl.edu 37 11 63078485 63078485 + Missense_Mutation SNP A A C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 11 63078485 63078485 A C SNP SLC22A10 ENST00000332793 human ensembl 74_37 +1 known missense c.1605 p.K535N 0.002 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 tier1 - - 32 0 0.00 30 18 37.50 SLC35F1 0 genome.wustl.edu 37 6 118635248 118635248 + Missense_Mutation SNP T T C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 6 118635248 118635248 T C SNP SLC35F1 ENST00000360388 human ensembl 74_37 +1 known missense c.1060 p.S354P 1.000 pfam_SLC35_F1/F2/F6,pfam_DMT pfam_SLC35_F1/F2/F6,pfam_DMT - no_errors SLC35F1 HGNC ENSG00000196376 tier1 - - 109 0 0.00 110 22 16.67 SLC35F2 0 genome.wustl.edu 37 11 107686678 107686678 + Missense_Mutation SNP T T A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 11 107686678 107686678 T A SNP SLC35F2 ENST00000429869 human ensembl 74_37 -1 known missense c.124 p.T42S 1.000 pfam_SLC35_F1/F2/F6 pfam_SLC35_F1/F2/F6,pfam_DMT,pfam_UAA,pfam_Tpt_PEP_trans_dom - no_errors SLC35F2 HGNC ENSG00000110660 tier1 - - 43 0 0.00 51 33 39.29 SLC6A5 0 genome.wustl.edu 37 11 20652345 20652345 + Silent SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 11 20652345 20652345 G A SNP SLC6A5 ENST00000525748 human ensembl 74_37 +1 known silent c.1608 p.E536 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 tier1 - - 29 0 0.00 29 9 23.08 SMAD3 0 genome.wustl.edu 37 15 67457389 67457389 + Silent SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 15 67457389 67457389 C T SNP SMAD3 ENST00000327367 human ensembl 74_37 +1 known silent c.363 p.C121 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 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 SMAD3 HGNC ENSG00000166949 tier1 - - 60 0 0.00 46 18 28.12 SP100 0 genome.wustl.edu 37 2 231326099 231326099 + Missense_Mutation SNP A A G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 2 231326099 231326099 A G SNP SP100 ENST00000340126 human ensembl 74_37 +1 known missense c.943 p.T315A 0.018 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 tier1 - - 67 0 0.00 124 10 7.46 SPATA18 0 genome.wustl.edu 37 4 52944993 52944993 + Silent SNP T T C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 4 52944993 52944993 T C SNP SPATA18 ENST00000295213 human ensembl 74_37 +1 known silent c.1113 p.F371 1.000 NULL NULL - no_errors SPATA18 HGNC ENSG00000163071 tier1 - - 97 0 0.00 65 26 28.57 SPATA31D1 0 genome.wustl.edu 37 9 84609975 84609975 + Silent SNP T T G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 9 84609975 84609975 T G SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known silent c.4590 p.T1530 0.001 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 19 0 0.00 22 5 18.52 SREBF2 0 genome.wustl.edu 37 22 42276762 42276762 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 22 42276762 42276762 G A SNP SREBF2 ENST00000361204 human ensembl 74_37 +1 known missense c.1804 p.A602T 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 tier1 - - 90 0 0.00 107 11 9.32 SV2B 0 genome.wustl.edu 37 15 91795744 91795744 + Missense_Mutation SNP C C A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 15 91795744 91795744 C A SNP SV2B ENST00000330276 human ensembl 74_37 +1 known missense c.778 p.H260N 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2B HGNC ENSG00000185518 tier1 - - 36 0 0.00 29 6 16.67 TARS2 0 genome.wustl.edu 37 1 150471768 150471768 + Missense_Mutation SNP A A C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 150471768 150471768 A C SNP TARS2 ENST00000369064 human ensembl 74_37 +1 known missense c.1616 p.K539T 1.000 pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS2 HGNC ENSG00000143374 tier1 - - 127 0 0.00 198 37 15.74 TEKT5 0 genome.wustl.edu 37 16 10721581 10721581 + Silent SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 16 10721581 10721581 C T SNP TEKT5 ENST00000283025 human ensembl 74_37 -1 known silent c.1317 p.T439 0.989 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT5 HGNC ENSG00000153060 tier1 - - 32 0 0.00 18 15 45.45 TGFB3 0 genome.wustl.edu 37 14 76427345 76427345 + Missense_Mutation SNP T T C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 14 76427345 76427345 T C SNP TGFB3 ENST00000238682 human ensembl 74_37 -1 known missense c.1001 p.H334R 1.000 pirsf_TGF-beta,pfam_TGF-b_C,smart_TGF-b_C pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Transform_grow_fac_b3,prints_TGF-beta - no_errors TGFB3 HGNC ENSG00000119699 tier1 - - 79 0 0.00 55 18 24.66 TP53 0 genome.wustl.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 17 7577121 7577121 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.817 p.R273C 0.830 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs121913343 - 13 0 0.00 1 9 90.00 TPM3P9 0 genome.wustl.edu 37 19 53945837 53945837 + RNA SNP T T C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 19 53945837 53945837 T C SNP TPM3P9 ENST00000424846 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors TPM3P9 HGNC ENSG00000241015 tier1 rs17855120 - 30 0 0.00 13 3 18.75 TTN 0 genome.wustl.edu 37 2 179452782 179452782 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 2 179452782 179452782 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.55648 p.R18550W 1.000 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 rs200726948 - 65 0 0.00 98 26 20.97 TTN 0 genome.wustl.edu 37 2 179484726 179484726 + Missense_Mutation SNP A A C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 2 179484726 179484726 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.38714 p.L12905R 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 38 0 0.00 26 31 54.39 TUBA3E 0 genome.wustl.edu 37 2 130951910 130951910 + Missense_Mutation SNP A A T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 2 130951910 130951910 A T SNP TUBA3E ENST00000312988 human ensembl 74_37 -1 known missense c.505 p.F169I 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin - no_errors TUBA3E HGNC ENSG00000152086 tier1 - - 109 0 0.00 163 31 15.82 UBXN11 0 genome.wustl.edu 37 1 26608883 26608883 + Silent SNP A A G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 26608883 26608883 A G SNP UBXN11 ENST00000374221 human ensembl 74_37 -1 known silent c.1470 p.G490 0.000 NULL pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX - no_errors UBXN11 HGNC ENSG00000158062 27 0 0.00 23 6 20.69 UFSP2 0 genome.wustl.edu 37 4 186324664 186324664 + Missense_Mutation SNP T T G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 4 186324664 186324664 T G SNP UFSP2 ENST00000264689 human ensembl 74_37 -1 known missense c.1307 p.Q436P 0.986 pfam_Peptidase_C78_UfSP1/2 pfam_Peptidase_C78_UfSP1/2 - no_errors UFSP2 HGNC ENSG00000109775 tier1 - - 42 0 0.00 47 9 16.07 UGT1A4 0 genome.wustl.edu 37 2 234628145 234628145 + Missense_Mutation SNP T T G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 2 234628145 234628145 T G SNP UGT1A4 ENST00000373409 human ensembl 74_37 +1 known missense c.679 p.F227V 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 tier1 - - 147 0 0.00 208 42 16.80 UNC5D 0 genome.wustl.edu 37 8 35647963 35647963 + Missense_Mutation SNP T T C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 8 35647963 35647963 T C SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.2744 p.L915P 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 tier1 - - 77 0 0.00 52 19 26.76 USP17L2 0 genome.wustl.edu 37 8 11996204 11996204 + Silent SNP A A C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 8 11996204 11996204 A C SNP USP17L2 ENST00000333796 human ensembl 74_37 -1 known silent c.66 p.S22 0.019 NULL pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L2 HGNC ENSG00000223443 tier1 - - 21 0 0.00 47 7 12.96 VWF 0 genome.wustl.edu 37 12 6230433 6230433 + Missense_Mutation SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 12 6230433 6230433 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.127 p.V43I 0.995 pirsf_VWF,pfam_VWF_type-D,smart_VWF_type-D pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 - - 24 0 0.00 19 6 24.00 WBSCR17 0 genome.wustl.edu 37 7 71036358 71036358 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 7 71036358 71036358 G A SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.1051 p.G351R 0.999 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 tier1 - - 60 0 0.00 65 44 40.37 WDR78 0 genome.wustl.edu 37 1 67292531 67292531 + Missense_Mutation SNP C C A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 1 67292531 67292531 C A SNP WDR78 ENST00000371026 human ensembl 74_37 -1 known missense c.2311 p.V771L 0.987 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 tier1 - - 86 0 0.00 75 33 30.56 WNK1 0 genome.wustl.edu 37 12 988814 988814 + Missense_Mutation SNP C C A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 12 988814 988814 C A SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.3943 p.P1315T 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 tier1 - - 65 0 0.00 55 24 30.38 ZFHX4 0 genome.wustl.edu 37 8 77616403 77616403 + Missense_Mutation SNP T T G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 8 77616403 77616403 T G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.80 p.L27R 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 17 0 0.00 16 20 55.56 ZMYM5 0 genome.wustl.edu 37 13 20426233 20426233 + Missense_Mutation SNP C C A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 13 20426233 20426233 C A SNP ZMYM5 ENST00000337963 human ensembl 74_37 -1 known missense c.88 p.D30Y 0.332 NULL pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM5 HGNC ENSG00000132950 tier1 - - 179 0 0.00 214 60 21.82 ZNF202 0 genome.wustl.edu 37 11 123601277 123601277 + Missense_Mutation SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 11 123601277 123601277 C T SNP ZNF202 ENST00000336139 human ensembl 74_37 -1 known missense c.320 p.R107Q 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF202 HGNC ENSG00000166261 tier1 - - 77 0 0.00 99 6 5.71 ZNF224 0 genome.wustl.edu 37 19 44604975 44604975 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 19 44604975 44604975 G A SNP ZNF224 ENST00000336976 human ensembl 74_37 +1 known missense c.37 p.V13M 0.999 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 ZNF224 HGNC ENSG00000267680 tier1 - - 112 0 0.00 93 25 21.19 ZNF521 0 genome.wustl.edu 37 18 22805265 22805265 + Missense_Mutation SNP C C T TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 18 22805265 22805265 C T SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.2617 p.D873N 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 79 0 0.00 36 14 28.00 ZNF536 0 genome.wustl.edu 37 19 30935240 30935240 + Silent SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 19 30935240 30935240 G A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.771 p.S257 0.928 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 9 0 0.00 73 7 8.75 ZNF799 0 genome.wustl.edu 37 19 12502395 12502395 + Missense_Mutation SNP T T C TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 19 12502395 12502395 T C SNP ZNF799 ENST00000430385 human ensembl 74_37 -1 known missense c.817 p.R273G 0.907 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF799 HGNC ENSG00000196466 tier1 rs200335804 - 74 0 0.00 75 30 28.57 ZNF846 0 genome.wustl.edu 37 19 9868341 9868341 + Missense_Mutation SNP G G A TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 19 9868341 9868341 G A SNP ZNF846 ENST00000397902 human ensembl 74_37 -1 known missense c.1412 p.T471M 0.119 pfam_Znf_C2H2,smart_Znf_BED_prd,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF846 HGNC ENSG00000196605 tier1 - - 99 0 0.00 92 22 19.30 ZNF91 0 genome.wustl.edu 37 19 23543163 23543163 + Missense_Mutation SNP T T G TCGA-VQ-A8DU-01A-11D-A364-08 TCGA-VQ-A8DU-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dccb5ec1-de81-4227-8141-0fb1ba9cb38e a182413d-0c1d-474f-b6ba-b02c93b302de 19 23543163 23543163 T G SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known missense c.2618 p.K873T 0.441 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 tier1 - - 40 0 0.00 40 10 20.00