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 ABCG8 64241 genome.wustl.edu 37 2 44079964 44079964 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 44079964 44079964 C T SNP ABCG8 ENST00000272286 human ensembl 70_37 +1 known silent c.921 p.I307 0.000 pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ADAMTS16 170690 genome.wustl.edu 37 5 5232548 5232548 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 5 5232548 5232548 C T SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known missense c.1769 p.S590L 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ADAMTS16 170690 genome.wustl.edu 37 5 5306632 5306632 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 5 5306632 5306632 G A SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known missense c.3202 p.E1068K 0.714 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC AEBP1 165 genome.wustl.edu 37 7 44152195 44152195 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 7 44152195 44152195 G C SNP AEBP1 ENST00000223357 human ensembl 70_37 +1 known missense c.2256 p.E752D 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC AKAP13 11214 genome.wustl.edu 37 15 86189140 86189140 + Silent SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 15 86189140 86189140 C G SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known silent c.4329 p.L1443 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,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 AKAP13 HGNC AQPEP 206338 genome.wustl.edu 37 5 115298713 115298713 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 5 115298713 115298713 C T SNP AQPEP ENST00000357872 human ensembl 70_37 +1 known silent c.399 p.I133 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_genename ARHGAP33 115703 genome.wustl.edu 37 19 36271142 36271142 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 19 36271142 36271142 C T SNP ARHGAP33 ENST00000007510 human ensembl 70_37 +1 known silent c.531 p.L177 0.986 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC AXL 558 genome.wustl.edu 37 19 41759596 41759596 + Silent SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 19 41759596 41759596 G C SNP AXL ENST00000301178 human ensembl 70_37 +1 known silent c.2019 p.L673 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC AZGP1 563 genome.wustl.edu 37 7 99564616 99564616 + RNA SNP C C A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 7 99564616 99564616 C A SNP AZGP1 ENST00000483612 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors AZGP1 HGNC BACE1 23621 genome.wustl.edu 37 11 117163829 117163829 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 11 117163829 117163829 C T SNP BACE1 ENST00000313005 human ensembl 70_37 -1 known missense c.781 p.E261K 1.000 pfam_Peptidase_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE,prints_Pept_A1_BACE1,prints_Peptidase_A1 - no_errors BACE1 HGNC BRCA1 672 genome.wustl.edu 37 17 41215378 41215378 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 41215378 41215378 G A SNP BRCA1 ENST00000471181 human ensembl 70_37 -1 known missense c.5228 p.S1743F 1.000 pirsf_BRCA1,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC BRWD1 54014 genome.wustl.edu 37 21 40568805 40568805 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 21 40568805 40568805 C T SNP BRWD1 ENST00000333229 human ensembl 70_37 -1 known missense c.6190 p.E2064K 0.009 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC BTK 695 genome.wustl.edu 37 X 100604945 100604945 + Splice_Site SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b X 100604945 100604945 C G SNP BTK ENST00000308731 human ensembl 70_37 -1 known splice_site c.1909-1 e18-1 1.000 - - - no_errors BTK HGNC C22orf29 79680 genome.wustl.edu 37 22 19839483 19839483 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 22 19839483 19839483 C T SNP C22orf29 ENST00000328554 human ensembl 70_37 -1 known missense c.302 p.G101D 0.004 NULL NULL - no_errors C22orf29 HGNC C9orf171 389799 genome.wustl.edu 37 9 135285786 135285786 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 9 135285786 135285786 C G SNP C9orf171 ENST00000343036 human ensembl 70_37 +1 known missense c.128 p.S43C 0.216 NULL NULL - no_errors C9orf171 HGNC CASS4 57091 genome.wustl.edu 37 20 55027331 55027331 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 20 55027331 55027331 G C SNP CASS4 ENST00000360314 human ensembl 70_37 +1 known missense c.1099 p.E367Q 0.000 NULL pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC CCDC144CP 348254 genome.wustl.edu 37 17 20224971 20224971 + RNA SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 20224971 20224971 G A SNP CCDC144C ENST00000340196 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors CCDC144C HGNC CEP350 9857 genome.wustl.edu 37 1 179989083 179989083 + Splice_Site SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 179989083 179989083 G A SNP CEP350 ENST00000367607 human ensembl 70_37 +1 known splice_site c.2175-1 e11-1 1.000 - - - no_errors CEP350 HGNC CERS5 91012 genome.wustl.edu 37 12 50528463 50528463 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 12 50528463 50528463 C T SNP CERS5 ENST00000317551 human ensembl 70_37 -1 known missense c.895 p.E299K 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS5 HGNC CHD4 1108 genome.wustl.edu 37 12 6710828 6710828 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 12 6710828 6710828 G A SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known silent c.543 p.F181 1.000 pfam_CHD_N,superfamily_HMG_superfamily pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC CHL1 10752 genome.wustl.edu 37 3 432680 432680 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 3 432680 432680 C T SNP CHL1 ENST00000256509 human ensembl 70_37 +1 known missense c.2629 p.H877Y 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CHL1 HGNC CLPB 81570 genome.wustl.edu 37 11 72005439 72005439 + Missense_Mutation SNP T T C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 11 72005439 72005439 T C SNP CLPB ENST00000294053 human ensembl 70_37 -1 known missense c.1700 p.Y567C 1.000 NULL pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Chaprnin_ClpA/B - no_errors CLPB HGNC CLVS2 134829 genome.wustl.edu 37 6 123369870 123369870 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 6 123369870 123369870 G A SNP CLVS2 ENST00000275162 human ensembl 70_37 +1 known missense c.668 p.R223Q 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS2 HGNC COL4A5 1287 genome.wustl.edu 37 X 107834847 107834847 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b X 107834847 107834847 G A SNP COL4A5 ENST00000328300 human ensembl 70_37 +1 known missense c.1396 p.G466R 1.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC CTDSPL2 51496 genome.wustl.edu 37 15 44811464 44811464 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 15 44811464 44811464 G C SNP CTDSPL2 ENST00000260327 human ensembl 70_37 +1 known missense c.1210 p.D404H 1.000 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSPL2 HGNC CTNNA2 1496 genome.wustl.edu 37 2 80101289 80101289 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 80101289 80101289 C G SNP CTNNA2 ENST00000361291 human ensembl 70_37 +1 known missense c.775 p.Q259E 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC CTSV 1515 genome.wustl.edu 37 9 99795320 99795320 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 9 99795320 99795320 C G SNP CTSL2 ENST00000259470 human ensembl 70_37 -1 known missense c.916 p.E306Q 0.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSL2 HGNC CUL1 8454 genome.wustl.edu 37 7 148487457 148487457 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 7 148487457 148487457 G A SNP CUL1 ENST00000325222 human ensembl 70_37 +1 known missense c.1730 p.R577Q 0.995 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC DDI1 414301 genome.wustl.edu 37 11 103908368 103908368 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 11 103908368 103908368 C T SNP DDI1 ENST00000302259 human ensembl 70_37 +1 known missense c.818 p.A273V 0.999 pfam_Peptidase_aspartic_euk-pred,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic pfam_Peptidase_aspartic_euk-pred,pfam_Ubiquitin,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC DOCK4 9732 genome.wustl.edu 37 7 111508135 111508135 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 7 111508135 111508135 C T SNP DOCK4 ENST00000428084 human ensembl 70_37 -1 known missense c.2185 p.E729K 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC DPY19L3 147991 genome.wustl.edu 37 19 32954774 32954774 + Splice_Site SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 19 32954774 32954774 G C SNP DPY19L3 ENST00000342179 human ensembl 70_37 +1 known splice_site c.1446-1 e13-1 1.000 - - - no_errors DPY19L3 HGNC DR1 1810 genome.wustl.edu 37 1 93812311 93812311 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 93812311 93812311 G C SNP DR1 ENST00000370267 human ensembl 70_37 +1 known missense c.109 p.E37Q 1.000 pfam_CBFA_NFYB_domain,superfamily_Histone-fold pfam_CBFA_NFYB_domain,superfamily_Histone-fold,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors DR1 HGNC EDDM3A 10876 genome.wustl.edu 37 14 21216063 21216063 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 14 21216063 21216063 G C SNP EDDM3A ENST00000326842 human ensembl 70_37 +1 known missense c.324 p.E108D 0.004 superfamily_RNaseA_domain superfamily_RNaseA_domain - no_errors EDDM3A HGNC EMR1 2015 genome.wustl.edu 37 19 6901986 6901986 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 19 6901986 6901986 C T SNP EMR1 ENST00000312053 human ensembl 70_37 +1 known silent c.615 p.S205 0.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000198022 0 genome.wustl.edu 37 X 134814923 134814923 + RNA SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b X 134814923 134814923 C T SNP ENSG00000198022 ENST00000444691 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors RP11-432N13.4 Clone_based_vega_gene ENSG00000238261 0 genome.wustl.edu 37 1 143378008 143378008 + RNA SNP A A T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 143378008 143378008 A T SNP ENSG00000238261 ENST00000428624 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BX004987.5 Clone_based_vega_gene F2R 2149 genome.wustl.edu 37 5 76028349 76028349 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 5 76028349 76028349 G C SNP F2R ENST00000319211 human ensembl 70_37 +1 known missense c.299 p.W100S 1.000 prints_Thrmbn_rcpt,prints_Protea_act_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor - no_errors F2R HGNC FEM1B 10116 genome.wustl.edu 37 15 68583140 68583140 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 15 68583140 68583140 C T SNP FEM1B ENST00000306917 human ensembl 70_37 +1 known missense c.1444 p.R482C 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1B HGNC FRY 10129 genome.wustl.edu 37 13 32836601 32836601 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 13 32836601 32836601 G A SNP FRY ENST00000380250 human ensembl 70_37 +1 known missense c.7768 p.E2590K 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC FSTL1 11167 genome.wustl.edu 37 3 120122095 120122095 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 3 120122095 120122095 C G SNP FSTL1 ENST00000295633 human ensembl 70_37 -1 known missense c.688 p.E230Q 1.000 NULL pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pfscan_EF_HAND_2 - no_errors FSTL1 HGNC GFPT2 9945 genome.wustl.edu 37 5 179731829 179731829 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 5 179731829 179731829 C T SNP GFPT2 ENST00000253778 human ensembl 70_37 -1 known missense c.1785 p.M595I 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC GPRIN3 285513 genome.wustl.edu 37 4 90169399 90169399 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 4 90169399 90169399 C T SNP GPRIN3 ENST00000333209 human ensembl 70_37 -1 known silent c.1863 p.K621 0.011 NULL NULL - no_errors GPRIN3 HGNC HCN4 10021 genome.wustl.edu 37 15 73615839 73615839 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 15 73615839 73615839 G A SNP HCN4 ENST00000261917 human ensembl 70_37 -1 known silent c.2595 p.F865 0.993 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN4 HGNC HIST1H4K 8362 genome.wustl.edu 37 6 27798995 27798995 + Nonstop_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 6 27798995 27798995 C G SNP HIST1H4K ENST00000357549 human ensembl 70_37 -1 known nonstop c.311 p.*104S 0.004 NULL pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4K HGNC IGSF1 3547 genome.wustl.edu 37 X 130410033 130410033 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b X 130410033 130410033 C G SNP IGSF1 ENST00000370903 human ensembl 70_37 -1 known missense c.2813 p.G938A 0.011 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF1 HGNC IQSEC3 440073 genome.wustl.edu 37 12 274981 274981 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 12 274981 274981 G A SNP IQSEC3 ENST00000326261 human ensembl 70_37 +1 known missense c.2896 p.E966K 1.000 NULL pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC3 HGNC ITGA10 8515 genome.wustl.edu 37 1 145532812 145532812 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 145532812 145532812 C T SNP ITGA10 ENST00000369304 human ensembl 70_37 +1 known silent c.1131 p.F377 1.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ITGA7 3679 genome.wustl.edu 37 12 56087878 56087878 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 12 56087878 56087878 G A SNP ITGA7 ENST00000555728 human ensembl 70_37 -1 known missense c.2594 p.S865F 0.996 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ITGBL1 9358 genome.wustl.edu 37 13 102344970 102344970 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 13 102344970 102344970 C T SNP ITGBL1 ENST00000376180 human ensembl 70_37 +1 known missense c.1051 p.P351S 0.914 pfam_EGF_extracell pfam_EGF_extracell,smart_EG-like_dom - no_errors ITGBL1 HGNC KIAA1009 22832 genome.wustl.edu 37 6 84913788 84913788 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 6 84913788 84913788 C T SNP KIAA1009 ENST00000403245 human ensembl 70_37 -1 known missense c.598 p.E200K 0.853 NULL NULL - no_errors KIAA1009 HGNC KIF16B 55614 genome.wustl.edu 37 20 16485148 16485148 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 20 16485148 16485148 G C SNP KIF16B ENST00000408042 human ensembl 70_37 -1 known missense c.1045 p.L349V 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF16B HGNC KIF3A 11127 genome.wustl.edu 37 5 132036232 132036232 + RNA SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 5 132036232 132036232 C T SNP KIF3A ENST00000487055 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors KIF3A HGNC KLRD1 3824 genome.wustl.edu 37 12 10464230 10464230 + RNA SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 12 10464230 10464230 G A SNP KLRD1 ENST00000538997 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors KLRD1 HGNC LAMC1 3915 genome.wustl.edu 37 1 183111854 183111854 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 183111854 183111854 C T SNP LAMC1 ENST00000258341 human ensembl 70_37 +1 known missense c.4759 p.R1587C 0.941 NULL pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,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 LAMC1 HGNC LENG1 79165 genome.wustl.edu 37 19 54659533 54659533 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 19 54659533 54659533 G A SNP LENG1 ENST00000222224 human ensembl 70_37 -1 known missense c.721 p.R241W 0.393 NULL NULL - no_errors LENG1 HGNC LRRC37A3 374819 genome.wustl.edu 37 17 62892842 62892842 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 62892842 62892842 C G SNP LRRC37A3 ENST00000319651 human ensembl 70_37 -1 known missense c.534 p.Q178H 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC MAEL 84944 genome.wustl.edu 37 1 166973503 166973503 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 166973503 166973503 C G SNP MAEL ENST00000367872 human ensembl 70_37 +1 known missense c.610 p.H204D 0.996 superfamily_CH-domain pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_CH-domain - no_errors MAEL HGNC MAP4K3 8491 genome.wustl.edu 37 2 39499440 39499440 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 39499440 39499440 C T SNP MAP4K3 ENST00000263881 human ensembl 70_37 -1 known missense c.1957 p.D653N 1.000 pfam_Citron,smart_Citron pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K3 HGNC MAPK1 5594 genome.wustl.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 22 22127164 22127164 C T SNP MAPK1 ENST00000215832 human ensembl 70_37 -1 known missense c.964 p.E322K 1.000 superfamily_Kinase-like_dom,prints_MAPK_ERK1/2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC MC1R 4157 genome.wustl.edu 37 16 89985855 89985855 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 16 89985855 89985855 C T SNP MC1R ENST00000555147 human ensembl 70_37 +1 known silent c.189 p.I63 0.009 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MSH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC1R HGNC MGA 23269 genome.wustl.edu 37 15 41962122 41962122 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 15 41962122 41962122 G A SNP MGA ENST00000219905 human ensembl 70_37 +1 known missense c.1030 p.E344K 0.997 NULL pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC MICALCL 84953 genome.wustl.edu 37 11 12316100 12316100 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 11 12316100 12316100 C T SNP MICALCL ENST00000256186 human ensembl 70_37 +1 known silent c.1122 p.L374 0.158 smart_Fertility_inhib_FinO/ProQ pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ - no_errors MICALCL HGNC MIR516A1 574498 genome.wustl.edu 37 19 54259998 54259998 + RNA SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 19 54259998 54259998 C T SNP MIR516A1 ENST00000385033 human ensembl 70_37 +1 known rna NULL NULL 0.139 - - - no_errors MIR516A1 HGNC MX1 4599 genome.wustl.edu 37 21 42812922 42812922 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 21 42812922 42812922 G C SNP MX1 ENST00000398598 human ensembl 70_37 +1 known missense c.700 p.E234Q 1.000 pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin - no_errors MX1 HGNC MYCBP 26292 genome.wustl.edu 37 1 39333265 39333265 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 39333265 39333265 C T SNP MYCBP ENST00000397572 human ensembl 70_37 -1 known missense c.106 p.E36K 1.000 NULL NULL - no_errors MYCBP HGNC MYH7 4625 genome.wustl.edu 37 14 23900167 23900167 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 14 23900167 23900167 C T SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known missense c.838 p.E280K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,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 MYO15A 51168 genome.wustl.edu 37 17 18045516 18045516 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 18045516 18045516 C G SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known missense c.5773 p.L1925V 0.995 smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC NANOG 79923 genome.wustl.edu 37 12 7945646 7945646 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 12 7945646 7945646 C T SNP NANOG ENST00000229307 human ensembl 70_37 +1 known silent c.252 p.V84 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors NANOG HGNC NAT9 26151 genome.wustl.edu 37 17 72767864 72767864 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 72767864 72767864 C T SNP NAT9 ENST00000357814 human ensembl 70_37 -1 known silent c.623 p.*208 0.826 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors NAT9 HGNC NDUFA6 4700 genome.wustl.edu 37 22 42483075 42483075 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 22 42483075 42483075 G A SNP NDUFA6 ENST00000498737 human ensembl 70_37 -1 known silent c.322 p.L108 1.000 pfam_Complex1_LYR pfam_Complex1_LYR - no_errors NDUFA6 HGNC NEB 4703 genome.wustl.edu 37 2 152472532 152472532 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 152472532 152472532 C G SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.11273 p.R3758T 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,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 NEB 4703 genome.wustl.edu 37 2 152518812 152518812 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 152518812 152518812 C T SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.5807 p.G1936E 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,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 NLGN4X 57502 genome.wustl.edu 37 X 5811015 5811015 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b X 5811015 5811015 C T SNP NLGN4X ENST00000381093 human ensembl 70_37 -1 known missense c.2354 p.R785H 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC NTNG1 22854 genome.wustl.edu 37 1 107867489 107867489 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 107867489 107867489 G A SNP NTNG1 ENST00000370068 human ensembl 70_37 +1 known missense c.832 p.E278K 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC OR3A1 4994 genome.wustl.edu 37 17 3195210 3195210 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 3195210 3195210 G A SNP OR3A1 ENST00000323404 human ensembl 70_37 -1 known missense c.667 p.H223Y 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR3A1 HGNC PAM 5066 genome.wustl.edu 37 5 102262314 102262314 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 5 102262314 102262314 G A SNP PAM ENST00000345721 human ensembl 70_37 +1 known missense c.410 p.R137K 0.996 NULL NULL - no_errors PAM HGNC PCDHB6 56130 genome.wustl.edu 37 5 140532130 140532130 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 5 140532130 140532130 C T SNP PCDHB6 ENST00000231136 human ensembl 70_37 +1 known silent c.2292 p.F764 0.934 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC PI4KA 5297 genome.wustl.edu 37 22 21119489 21119489 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 22 21119489 21119489 C G SNP PI4KA ENST00000255882 human ensembl 70_37 -1 known missense c.2473 p.E825Q 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC PIWIL4 143689 genome.wustl.edu 37 11 94326762 94326762 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 11 94326762 94326762 G A SNP PIWIL4 ENST00000299001 human ensembl 70_37 +1 known missense c.1105 p.E369K 0.441 pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL4 HGNC PJA1 64219 genome.wustl.edu 37 X 68383010 68383010 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b X 68383010 68383010 C T SNP PJA1 ENST00000361478 human ensembl 70_37 -1 known silent c.72 p.R24 0.998 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC PLCE1 51196 genome.wustl.edu 37 10 95848926 95848926 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 10 95848926 95848926 C T SNP PLCE1 ENST00000371375 human ensembl 70_37 +1 known silent c.75 p.F25 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC PPEF1 5475 genome.wustl.edu 37 X 18748335 18748335 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b X 18748335 18748335 G A SNP PPEF1 ENST00000361511 human ensembl 70_37 +1 known missense c.83 p.R28Q 1.000 pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_IQ_motif_EF-hand-BS pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF1 HGNC PRICKLE3 4007 genome.wustl.edu 37 X 49032207 49032207 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b X 49032207 49032207 C T SNP PRICKLE3 ENST00000376317 human ensembl 70_37 -1 known missense c.1663 p.E555K 0.869 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC PRRG1 5638 genome.wustl.edu 37 X 37312800 37312800 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b X 37312800 37312800 G A SNP PRRG1 ENST00000378628 human ensembl 70_37 +1 known missense c.583 p.E195K 0.892 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG1 HGNC PUM2 23369 genome.wustl.edu 37 2 20478361 20478361 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 20478361 20478361 G A SNP PUM2 ENST00000361078 human ensembl 70_37 -1 known missense c.1940 p.S647L 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC RCHY1 25898 genome.wustl.edu 37 4 76439453 76439453 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 4 76439453 76439453 C T SNP RCHY1 ENST00000324439 human ensembl 70_37 -1 known missense c.44 p.R15Q 0.005 NULL pfam_Znf_CHY,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RCHY1 HGNC RECQL5 9400 genome.wustl.edu 37 17 73624482 73624482 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 73624482 73624482 G A SNP RECQL5 ENST00000317905 human ensembl 70_37 -1 known missense c.2621 p.S874L 0.027 NULL pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC RHPN2 85415 genome.wustl.edu 37 19 33502623 33502623 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 19 33502623 33502623 G A SNP RHPN2 ENST00000254260 human ensembl 70_37 -1 known silent c.555 p.F185 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ROBO3 64221 genome.wustl.edu 37 11 124743605 124743605 + Missense_Mutation SNP T T C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 11 124743605 124743605 T C SNP ROBO3 ENST00000397801 human ensembl 70_37 +1 known missense c.1631 p.V544A 0.012 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO3 HGNC RYR2 6262 genome.wustl.edu 37 1 237890472 237890472 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 237890472 237890472 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.10805 p.R3602Q 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC SEL1L2 80343 genome.wustl.edu 37 20 13899729 13899729 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 20 13899729 13899729 G A SNP SEL1L2 ENST00000284951 human ensembl 70_37 -1 known silent c.324 p.D108 0.026 smart_Sel1-like pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC SETD9 133383 genome.wustl.edu 37 5 56209780 56209780 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 5 56209780 56209780 C T SNP SETD9 ENST00000285947 human ensembl 70_37 +1 known silent c.670 p.L224 1.000 NULL NULL - no_errors SETD9 HGNC SETX 23064 genome.wustl.edu 37 9 135202135 135202135 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 9 135202135 135202135 G A SNP SETX ENST00000372169 human ensembl 70_37 -1 known missense c.4850 p.S1617F 0.000 NULL NULL - no_errors SETX HGNC SHBG 6462 genome.wustl.edu 37 17 7534569 7534569 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 7534569 7534569 G C SNP SHBG ENST00000380450 human ensembl 70_37 +1 known missense c.445 p.E149Q 0.929 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors SHBG HGNC SHPRH 257218 genome.wustl.edu 37 6 146256116 146256116 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 6 146256116 146256116 G A SNP SHPRH ENST00000367503 human ensembl 70_37 -1 known missense c.2917 p.P973S 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC SIGLEC17P 284367 genome.wustl.edu 37 19 51671001 51671001 + RNA SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 19 51671001 51671001 C T SNP SIGLEC17P ENST00000341811 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC17P HGNC SIK2 23235 genome.wustl.edu 37 11 111572232 111572232 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 11 111572232 111572232 G A SNP SIK2 ENST00000304987 human ensembl 70_37 +1 known silent c.660 p.P220 0.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC SLC28A1 9154 genome.wustl.edu 37 15 85451977 85451977 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 15 85451977 85451977 C T SNP SLC28A1 ENST00000286749 human ensembl 70_37 +1 known missense c.746 p.S249F 1.000 pfam_Nuclsd_transpt2,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A1 HGNC SMG1 23049 genome.wustl.edu 37 16 18859259 18859259 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 16 18859259 18859259 G A SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known missense c.5720 p.S1907F 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC SMG8 55181 genome.wustl.edu 37 17 57287571 57287571 + Missense_Mutation SNP C C A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 57287571 57287571 C A SNP SMG8 ENST00000300917 human ensembl 70_37 +1 known missense c.159 p.F53L 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC SPTAN1 6709 genome.wustl.edu 37 9 131331147 131331147 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 9 131331147 131331147 G A SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known missense c.334 p.E112K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ST6GAL2 84620 genome.wustl.edu 37 2 107460106 107460106 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 107460106 107460106 C G SNP ST6GAL2 ENST00000361686 human ensembl 70_37 -1 known missense c.328 p.E110Q 0.834 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ST6GAL2 84620 genome.wustl.edu 37 2 107460390 107460390 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 107460390 107460390 C T SNP ST6GAL2 ENST00000361686 human ensembl 70_37 -1 known missense c.44 p.G15E 0.865 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC STAT1 6772 genome.wustl.edu 37 2 191855956 191855956 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 191855956 191855956 C G SNP STAT1 ENST00000361099 human ensembl 70_37 -1 known missense c.1035 p.L345F 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC STAT3 6774 genome.wustl.edu 37 17 40475064 40475064 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 40475064 40475064 C T SNP STAT3 ENST00000264657 human ensembl 70_37 -1 known missense c.1846 p.E616K 1.000 pfam_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC SYT7 9066 genome.wustl.edu 37 11 61300491 61300491 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 11 61300491 61300491 G A SNP SYT7 ENST00000263846 human ensembl 70_37 -1 known silent c.321 p.L107 0.998 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC TAGAP 117289 genome.wustl.edu 37 6 159457435 159457435 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 6 159457435 159457435 C T SNP TAGAP ENST00000367066 human ensembl 70_37 -1 known silent c.1620 p.P540 0.017 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors TAGAP HGNC TAOK3 51347 genome.wustl.edu 37 12 118615108 118615108 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 12 118615108 118615108 C T SNP TAOK3 ENST00000392533 human ensembl 70_37 -1 known silent c.1593 p.K531 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK3 HGNC TARS2 80222 genome.wustl.edu 37 1 150463973 150463973 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 150463973 150463973 C T SNP TARS2 ENST00000369064 human ensembl 70_37 +1 known missense c.616 p.R206C 0.845 superfamily_Thr/Ala-tRNA-synth_IIc_edit,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 TGFBR3 7049 genome.wustl.edu 37 1 92184977 92184977 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 1 92184977 92184977 G A SNP TGFBR3 ENST00000212355 human ensembl 70_37 -1 known silent c.1458 p.T486 0.003 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC TIAM1 7074 genome.wustl.edu 37 21 32638880 32638880 + Missense_Mutation SNP C C A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 21 32638880 32638880 C A SNP TIAM1 ENST00000286827 human ensembl 70_37 -1 known missense c.409 p.D137Y 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC TMEM30A 55754 genome.wustl.edu 37 6 75975015 75975015 + Nonsense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 6 75975015 75975015 G A SNP TMEM30A ENST00000230461 human ensembl 70_37 -1 known nonsense c.385 p.Q129* 1.000 pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk - no_errors TMEM30A HGNC TMPRSS6 164656 genome.wustl.edu 37 22 37485664 37485664 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 22 37485664 37485664 C T SNP TMPRSS6 ENST00000381792 human ensembl 70_37 -1 known missense c.790 p.A264T 1.000 pirsf_Pept_S1A_matriptase-2,superfamily_CUB pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6 - no_errors TMPRSS6 HGNC TOR1A 1861 genome.wustl.edu 37 9 132576379 132576379 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 9 132576379 132576379 C G SNP TOR1A ENST00000351698 human ensembl 70_37 -1 known missense c.871 p.E291Q 0.018 pirsf_Torsin_subgr pfam_Torsin,pirsf_Torsin_subgr - no_errors TOR1A HGNC TRMT5 57570 genome.wustl.edu 37 14 61446334 61446334 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 14 61446334 61446334 G A SNP TRMT5 ENST00000261249 human ensembl 70_37 -1 known silent c.282 p.V94 0.005 NULL pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT5 HGNC TTN 7273 genome.wustl.edu 37 2 179612885 179612885 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 179612885 179612885 G C SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.14242 p.L4748V 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179614188 179614188 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 179614188 179614188 C T SNP TTN ENST00000360870 human ensembl 70_37 -1 known silent c.12939 p.E4313 0.956 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC TUBA3E 112714 genome.wustl.edu 37 2 130953801 130953801 + Silent SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 130953801 130953801 G A SNP TUBA3E ENST00000312988 human ensembl 70_37 -1 known silent c.147 p.F49 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin - no_errors TUBA3E HGNC UGT1A4 54657 genome.wustl.edu 37 2 234628184 234628184 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 2 234628184 234628184 C G SNP UGT1A4 ENST00000373409 human ensembl 70_37 +1 known missense c.718 p.Q240E 0.695 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC UNC79 57578 genome.wustl.edu 37 14 94088400 94088400 + Silent SNP G G T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 14 94088400 94088400 G T SNP UNC79 ENST00000553484 human ensembl 70_37 +1 known silent c.4887 p.L1629 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors UNC79 HGNC USP8 9101 genome.wustl.edu 37 15 50782647 50782647 + Missense_Mutation SNP C C A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 15 50782647 50782647 C A SNP USP8 ENST00000307179 human ensembl 70_37 +1 known missense c.2159 p.P720Q 1.000 NULL pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19 - no_errors USP8 HGNC VPS13A 23230 genome.wustl.edu 37 9 79840896 79840896 + Nonsense_Mutation SNP G G T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 9 79840896 79840896 G T SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known nonsense c.1216 p.E406* 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC WDR81 124997 genome.wustl.edu 37 17 1639342 1639342 + Nonsense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 17 1639342 1639342 C T SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known nonsense c.5335 p.R1779* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC WHAMMP3 339005 genome.wustl.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 15 23205108 23205108 C T SNP WHAMMP3 ENST00000400153 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors WHAMMP3 HGNC ZBTB11 27107 genome.wustl.edu 37 3 101390764 101390764 + Missense_Mutation SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 3 101390764 101390764 C G SNP ZBTB11 ENST00000461821 human ensembl 70_37 -1 putative missense c.604 p.A202P 0.000 NULL NULL - no_errors ZBTB11 HGNC ZBTB12 221527 genome.wustl.edu 37 6 31868750 31868750 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 6 31868750 31868750 C T SNP ZBTB12 ENST00000375527 human ensembl 70_37 -1 known silent c.333 p.Q111 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB12 HGNC ZC3H12B 340554 genome.wustl.edu 37 X 64722635 64722635 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b X 64722635 64722635 C T SNP ZC3H12B ENST00000338957 human ensembl 70_37 +1 known missense c.2057 p.P686L 0.569 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ZFP64 55734 genome.wustl.edu 37 20 50776785 50776785 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 20 50776785 50776785 C T SNP ZFP64 ENST00000216923 human ensembl 70_37 -1 known missense c.640 p.D214N 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ZNF271 10778 genome.wustl.edu 37 18 32887449 32887449 + RNA SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 18 32887449 32887449 C T SNP ZNF271 ENST00000399070 human ensembl 70_37 +1 known rna NULL NULL 0.915 - - - no_errors ZNF271 HGNC ZNF271 10778 genome.wustl.edu 37 18 32887460 32887460 + RNA SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 18 32887460 32887460 C T SNP ZNF271 ENST00000399070 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF271 HGNC ZNF271 10778 genome.wustl.edu 37 18 32887561 32887561 + RNA SNP C C G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 18 32887561 32887561 C G SNP ZNF271 ENST00000399070 human ensembl 70_37 +1 known rna NULL NULL 0.776 - - - no_errors ZNF271 HGNC ZNF445 353274 genome.wustl.edu 37 3 44490124 44490124 + Missense_Mutation SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 3 44490124 44490124 C T SNP ZNF445 ENST00000396077 human ensembl 70_37 -1 known missense c.1039 p.E347K 0.995 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,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 ZNF445 HGNC ZNF573 126231 genome.wustl.edu 37 19 38229932 38229932 + Missense_Mutation SNP G G C TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 19 38229932 38229932 G C SNP ZNF573 ENST00000590414 human ensembl 70_37 -1 known missense c.1459 p.Q487E 0.001 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 ZNF573 HGNC ZNF668 79759 genome.wustl.edu 37 16 31073360 31073360 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 16 31073360 31073360 G A SNP ZNF668 ENST00000426488 human ensembl 70_37 -1 known missense c.958 p.R320C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ZNF671 79891 genome.wustl.edu 37 19 58233778 58233778 + Missense_Mutation SNP G G A TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 19 58233778 58233778 G A SNP ZNF671 ENST00000601584 human ensembl 70_37 -1 known missense c.167 p.S56L 0.000 NULL NULL - no_errors ZNF671 HGNC ZNF92 168374 genome.wustl.edu 37 7 64864655 64864655 + Missense_Mutation SNP A A G TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 57a1e38f-6b77-40ae-91f0-9f950e57fe03 c8af942e-74f7-4d67-975b-0b14f9ab768b 7 64864655 64864655 A G SNP ZNF92 ENST00000328747 human ensembl 70_37 +1 known missense c.1628 p.D543G 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF92 HGNC