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 ACSL1 2180 genome.wustl.edu 37 4 185683650 185683650 + Nonsense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 185683650 185683650 G A SNP ACSL1 ENST00000281455 human ensembl 70_37 -1 known nonsense c.1549 p.Q517* 0.410 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL1 HGNC ACVR2A 92 genome.wustl.edu 37 2 148654036 148654036 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 148654036 148654036 G A SNP ACVR2A ENST00000241416 human ensembl 70_37 +1 known silent c.222 p.V74 1.000 pfam_Activin_rcpt,prints_Activin_II/TGFBeta-II_recpt pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR2A HGNC ADAMTS17 170691 genome.wustl.edu 37 15 100695466 100695466 + Nonsense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 100695466 100695466 G C SNP ADAMTS17 ENST00000268070 human ensembl 70_37 -1 known nonsense c.1241 p.S414* 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ADAMTS3 9508 genome.wustl.edu 37 4 73156718 73156718 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 73156718 73156718 G A SNP ADAMTS3 ENST00000286657 human ensembl 70_37 -1 known missense c.2785 p.R929C 0.998 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS3 HGNC ADAMTSL5 339366 genome.wustl.edu 37 19 1510233 1510233 + Missense_Mutation SNP A A G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 1510233 1510233 A G SNP ADAMTSL5 ENST00000413997 human ensembl 70_37 -1 known missense c.307 p.F103L 1.000 NULL pfam_ADAM_spacer1,pfam_Netrin_module_non-TIMP,pfam_Thrombospondin_1_rpt,superfamily_TIMP-like_OB-fold,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL5 HGNC AKAP4 8852 genome.wustl.edu 37 X 49958365 49958365 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 49958365 49958365 G A SNP AKAP4 ENST00000358526 human ensembl 70_37 -1 known silent c.999 p.L333 0.470 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC AKNAD1 254268 genome.wustl.edu 37 1 109366000 109366000 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 109366000 109366000 G C SNP AKNAD1 ENST00000370001 human ensembl 70_37 -1 known missense c.2159 p.S720C 0.053 NULL pfam_TF_AT-hook - no_errors AKNAD1 HGNC ALOX5 240 genome.wustl.edu 37 10 45878011 45878011 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 45878011 45878011 G A SNP ALOX5 ENST00000374391 human ensembl 70_37 +1 known silent c.231 p.L77 0.093 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX5 HGNC ALPK2 115701 genome.wustl.edu 37 18 56203851 56203851 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 18 56203851 56203851 C T SNP ALPK2 ENST00000361673 human ensembl 70_37 -1 known missense c.3568 p.G1190R 0.002 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK2 HGNC AMHR2 269 genome.wustl.edu 37 12 53823280 53823280 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 53823280 53823280 G A SNP AMHR2 ENST00000257863 human ensembl 70_37 +1 known silent c.1011 p.Q337 0.984 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_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom - no_errors AMHR2 HGNC AOAH 313 genome.wustl.edu 37 7 36616224 36616224 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 36616224 36616224 C G SNP AOAH ENST00000258749 human ensembl 70_37 -1 known missense c.977 p.R326T 1.000 pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,superfamily_Esterase_SGNH_hydro-type,smart_SaposinB,pfscan_SaposinB - no_errors AOAH HGNC ARAP1 116985 genome.wustl.edu 37 11 72404263 72404263 + RNA SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 72404263 72404263 G A SNP ARAP1 ENST00000544958 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ARAP1 HGNC ARHGAP30 257106 genome.wustl.edu 37 1 161021240 161021240 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 161021240 161021240 G A SNP ARHGAP30 ENST00000368013 human ensembl 70_37 -1 known silent c.1284 p.L428 0.996 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ARHGEF18 23370 genome.wustl.edu 37 19 7527213 7527213 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 7527213 7527213 G C SNP ARHGEF18 ENST00000359920 human ensembl 70_37 +1 known missense c.2064 p.M688I 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ARHGEF19 128272 genome.wustl.edu 37 1 16535286 16535286 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 16535286 16535286 C T SNP ARHGEF19 ENST00000270747 human ensembl 70_37 -1 known silent c.264 p.E88 0.001 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF19 HGNC ARL14EP 120534 genome.wustl.edu 37 11 30352607 30352607 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 30352607 30352607 G C SNP ARL14EP ENST00000282032 human ensembl 70_37 +1 known missense c.112 p.D38H 1.000 NULL NULL - no_errors ARL14EP HGNC ARPP21 10777 genome.wustl.edu 37 3 35833939 35833939 + Missense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 35833939 35833939 C A SNP ARPP21 ENST00000417925 human ensembl 70_37 +1 known missense c.2101 p.Q701K 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ASMTL 8623 genome.wustl.edu 37 X 1531691 1531691 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 1531691 1531691 G A SNP ASMTL ENST00000381317 human ensembl 70_37 -1 known silent c.1579 p.L527 1.000 pfam_O_MeTrfase_2 pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ATAD2 29028 genome.wustl.edu 37 8 124408481 124408481 + Silent SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 124408481 124408481 G C SNP ATAD2 ENST00000287394 human ensembl 70_37 -1 known silent c.117 p.L39 0.989 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ATP9A 10079 genome.wustl.edu 37 20 50346391 50346391 + Missense_Mutation SNP G G T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 20 50346391 50346391 G T SNP ATP9A ENST00000338821 human ensembl 70_37 -1 known missense c.195 p.F65L 1.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP9A HGNC ATXN2 6311 genome.wustl.edu 37 12 111954009 111954009 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 111954009 111954009 G A SNP ATXN2 ENST00000377617 human ensembl 70_37 -1 known missense c.1804 p.H602Y 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC B3GALT1 8708 genome.wustl.edu 37 2 168725859 168725859 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 168725859 168725859 G A SNP B3GALT1 ENST00000305861 human ensembl 70_37 +1 known missense c.310 p.E104K 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT1 HGNC BAZ1A 11177 genome.wustl.edu 37 14 35243591 35243591 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 14 35243591 35243591 C G SNP BAZ1A ENST00000360310 human ensembl 70_37 -1 known missense c.2939 p.R980T 1.000 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC BBS12 166379 genome.wustl.edu 37 4 123663127 123663127 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 123663127 123663127 G C SNP BBS12 ENST00000314218 human ensembl 70_37 +1 known missense c.80 p.R27T 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS12 HGNC BMP5 653 genome.wustl.edu 37 6 55625297 55625297 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 55625297 55625297 C T SNP BMP5 ENST00000370830 human ensembl 70_37 -1 known silent c.1062 p.K354 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP5 HGNC BMPR2 659 genome.wustl.edu 37 2 203407068 203407068 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 203407068 203407068 G A SNP BMPR2 ENST00000374580 human ensembl 70_37 +1 known silent c.1311 p.Q437 1.000 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,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMPR2 HGNC BOD1L1 259282 genome.wustl.edu 37 4 13602587 13602587 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 13602587 13602587 C T SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known missense c.5937 p.M1979I 0.865 NULL NULL - no_errors BOD1L1 HGNC BOD1L1 259282 genome.wustl.edu 37 4 13603815 13603815 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 13603815 13603815 C T SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known missense c.4709 p.R1570K 0.000 NULL NULL - no_errors BOD1L1 HGNC BRD4 23476 genome.wustl.edu 37 19 15379752 15379752 + Missense_Mutation SNP G G T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 15379752 15379752 G T SNP BRD4 ENST00000263377 human ensembl 70_37 -1 known missense c.387 p.F129L 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC BRWD3 254065 genome.wustl.edu 37 X 79955474 79955474 + Nonsense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 79955474 79955474 C T SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known nonsense c.2925 p.W975* 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC BTC 685 genome.wustl.edu 37 4 75675896 75675896 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 75675896 75675896 C G SNP BTC ENST00000395743 human ensembl 70_37 -1 known missense c.315 p.E105D 0.932 pfscan_EG-like_dom pfscan_EG-like_dom - no_errors BTC HGNC BTLA 151888 genome.wustl.edu 37 3 112198561 112198561 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 112198561 112198561 G A SNP BTLA ENST00000334529 human ensembl 70_37 -1 known silent c.144 p.I48 0.000 smart_Ig_sub,pfscan_Ig-like smart_Ig_sub,pfscan_Ig-like - no_errors BTLA HGNC BZRAP1 9256 genome.wustl.edu 37 17 56399716 56399716 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 56399716 56399716 G A SNP BZRAP1 ENST00000355701 human ensembl 70_37 -1 known missense c.1375 p.R459W 0.980 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC C17orf102 400591 genome.wustl.edu 37 17 32904624 32904624 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 32904624 32904624 G A SNP C17orf102 ENST00000357754 human ensembl 70_37 -1 known silent c.426 p.I142 0.000 NULL NULL - no_errors C17orf102 HGNC C1orf94 84970 genome.wustl.edu 37 1 34663019 34663019 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 34663019 34663019 G A SNP C1orf94 ENST00000488417 human ensembl 70_37 +1 known missense c.514 p.E172K 0.003 NULL NULL - no_errors C1orf94 HGNC C2orf78 388960 genome.wustl.edu 37 2 74041326 74041326 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 74041326 74041326 C G SNP C2orf78 ENST00000409561 human ensembl 70_37 +1 novel missense c.820 p.Q274E 0.985 NULL NULL - no_errors C2orf78 HGNC TDRP 157695 genome.wustl.edu 37 8 442413 442413 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 442413 442413 C T SNP C8orf42 ENST00000324079 human ensembl 70_37 -1 known missense c.544 p.E182K 0.998 NULL NULL - no_errors C8orf42 HGNC CACNA1D 776 genome.wustl.edu 37 3 53808636 53808636 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 53808636 53808636 G A SNP CACNA1D ENST00000288139 human ensembl 70_37 +1 known missense c.4193 p.R1398K 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC CACNG5 27091 genome.wustl.edu 37 17 64880840 64880840 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 64880840 64880840 G A SNP CACNG5 ENST00000169565 human ensembl 70_37 +1 known missense c.632 p.G211E 0.001 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC CACYBP 27101 genome.wustl.edu 37 1 174973857 174973857 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 174973857 174973857 G A SNP CACYBP ENST00000367679 human ensembl 70_37 +1 known silent c.123 p.K41 1.000 pfam_Siah-Interact_N pfam_Siah-Interact_N,pfam_CS_domain,pfam_SGS,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_SGS - no_errors CACYBP HGNC CAD 790 genome.wustl.edu 37 2 27459221 27459221 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 27459221 27459221 G C SNP CAD ENST00000264705 human ensembl 70_37 +1 known missense c.4144 p.E1382Q 1.000 pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC CARD11 84433 genome.wustl.edu 37 7 2963931 2963931 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 2963931 2963931 C T SNP CARD11 ENST00000396946 human ensembl 70_37 -1 known missense c.1876 p.E626K 1.000 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC CCAR1 55749 genome.wustl.edu 37 10 70547683 70547683 + Splice_Site SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 70547683 70547683 G A SNP CCAR1 ENST00000265872 human ensembl 70_37 +1 known splice_site c.2881-1 e21-1 1.000 - - - no_errors CCAR1 HGNC CCDC129 223075 genome.wustl.edu 37 7 31682837 31682837 + Missense_Mutation SNP G G T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 31682837 31682837 G T SNP CCDC129 ENST00000451887 human ensembl 70_37 +1 known missense c.1931 p.R644L 0.000 NULL NULL - no_errors CCDC129 HGNC CCDC7 79741 genome.wustl.edu 37 10 32854533 32854533 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 32854533 32854533 G A SNP CCDC7 ENST00000277657 human ensembl 70_37 +1 known silent c.1182 p.L394 0.612 NULL NULL - no_errors CCDC7 HGNC CCPG1 9236 genome.wustl.edu 37 15 55652788 55652788 + Missense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 55652788 55652788 C A SNP CCPG1 ENST00000310958 human ensembl 70_37 -1 known missense c.1183 p.A395S 0.690 NULL NULL - no_errors CCPG1 HGNC CD163 9332 genome.wustl.edu 37 12 7637945 7637945 + Silent SNP A A G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 7637945 7637945 A G SNP CD163 ENST00000359156 human ensembl 70_37 -1 known silent c.2526 p.F842 0.994 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163 HGNC CDC27 996 genome.wustl.edu 37 17 45247376 45247376 + Nonsense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 45247376 45247376 C A SNP CDC27 ENST00000533415 human ensembl 70_37 -1 known nonsense c.136 p.E46* 1.000 NULL NULL - no_errors CDC27 HGNC CDH10 1008 genome.wustl.edu 37 5 24509805 24509805 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 24509805 24509805 C T SNP CDH10 ENST00000264463 human ensembl 70_37 -1 known missense c.1126 p.E376K 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC CDK11B 984 genome.wustl.edu 37 1 1572314 1572314 + Missense_Mutation SNP G G T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 1572314 1572314 G T SNP CDK11B ENST00000407249 human ensembl 70_37 -1 known missense c.1754 p.T585N 1.000 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,pfscan_Prot_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,pfscan_Prot_kinase_cat_dom - no_errors CDK11B HGNC CDK14 5218 genome.wustl.edu 37 7 90338818 90338818 + RNA SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 90338818 90338818 C G SNP CDK14 ENST00000496279 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CDK14 HGNC CELSR2 1952 genome.wustl.edu 37 1 109794627 109794627 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 109794627 109794627 C T SNP CELSR2 ENST00000271332 human ensembl 70_37 +1 known silent c.1926 p.V642 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC CEP128 145508 genome.wustl.edu 37 14 81259400 81259400 + Nonsense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 14 81259400 81259400 G A SNP CEP128 ENST00000281129 human ensembl 70_37 -1 known nonsense c.1264 p.R422* 0.997 NULL NULL - no_errors CEP128 HGNC CERK 64781 genome.wustl.edu 37 22 47107008 47107008 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 22 47107008 47107008 C T SNP CERK ENST00000216264 human ensembl 70_37 -1 known missense c.544 p.E182K 0.987 pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom - no_errors CERK HGNC CH25H 9023 genome.wustl.edu 37 10 90967017 90967017 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 90967017 90967017 G A SNP CH25H ENST00000371852 human ensembl 70_37 -1 known silent c.33 p.V11 0.000 NULL pfam_Fatty_acid_hydroxylase - no_errors CH25H HGNC CHD3 1107 genome.wustl.edu 37 17 7804195 7804195 + Nonsense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 7804195 7804195 C T SNP CHD3 ENST00000330494 human ensembl 70_37 +1 known nonsense c.3004 p.R1002* 1.000 pfam_SNF2_N pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,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,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 CHD3 HGNC CKAP5 9793 genome.wustl.edu 37 11 46780913 46780913 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 46780913 46780913 C G SNP CKAP5 ENST00000415402 human ensembl 70_37 -1 known missense c.4474 p.E1492Q 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC CKAP5 9793 genome.wustl.edu 37 11 46784554 46784554 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 46784554 46784554 G C SNP CKAP5 ENST00000415402 human ensembl 70_37 -1 known missense c.3863 p.S1288C 0.882 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC CKAP5 9793 genome.wustl.edu 37 11 46784576 46784576 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 46784576 46784576 G A SNP CKAP5 ENST00000415402 human ensembl 70_37 -1 known missense c.3841 p.H1281Y 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC CLASP1 23332 genome.wustl.edu 37 2 122159197 122159197 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 122159197 122159197 C T SNP CLASP1 ENST00000263710 human ensembl 70_37 -1 known missense c.2788 p.D930N 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC CLDN22 53842 genome.wustl.edu 37 4 184240979 184240979 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 184240979 184240979 G A SNP CLDN22 ENST00000323319 human ensembl 70_37 -1 known silent c.393 p.V131 0.008 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN22 HGNC CMYA5 202333 genome.wustl.edu 37 5 79025923 79025923 + Silent SNP A A G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 79025923 79025923 A G SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known silent c.1335 p.A445 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC CNGB1 1258 genome.wustl.edu 37 16 57953058 57953058 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 57953058 57953058 G C SNP CNGB1 ENST00000251102 human ensembl 70_37 -1 known missense c.1902 p.F634L 1.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC COASY 80347 genome.wustl.edu 37 17 40714664 40714664 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 40714664 40714664 C T SNP COASY ENST00000590958 human ensembl 70_37 +1 known silent c.111 p.L37 1.000 NULL pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase - no_errors COASY HGNC COL3A1 1281 genome.wustl.edu 37 2 189868143 189868143 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 189868143 189868143 C T SNP COL3A1 ENST00000304636 human ensembl 70_37 +1 known missense c.2560 p.P854S 0.979 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC COL5A1 1289 genome.wustl.edu 37 9 137734054 137734054 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 9 137734054 137734054 G A SNP COL5A1 ENST00000371817 human ensembl 70_37 +1 known missense c.5422 p.E1808K 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC CORIN 10699 genome.wustl.edu 37 4 47746544 47746544 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 47746544 47746544 G A SNP CORIN ENST00000273857 human ensembl 70_37 -1 known missense c.674 p.S225L 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CORIN HGNC CSNK1G1 53944 genome.wustl.edu 37 15 64496789 64496789 + Splice_Site SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 64496789 64496789 C G SNP CSNK1G1 ENST00000303052 human ensembl 70_37 -1 known splice_site c.851-1 e8-1 1.000 - - - no_errors CSNK1G1 HGNC CTNNBIP1 56998 genome.wustl.edu 37 1 9932074 9932074 + Nonsense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 9932074 9932074 G A SNP CTNNBIP1 ENST00000377256 human ensembl 70_37 -1 known nonsense c.49 p.Q17* 1.000 pfam_ICAT,superfamily_ICAT pfam_ICAT,superfamily_ICAT - no_errors CTNNBIP1 HGNC CTSK 1513 genome.wustl.edu 37 1 150772128 150772128 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 150772128 150772128 C G SNP CTSK ENST00000271651 human ensembl 70_37 -1 known missense c.676 p.E226Q 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,pfam_Peptidase_C1B,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSK HGNC CTSO 1519 genome.wustl.edu 37 4 156850795 156850795 + Missense_Mutation SNP T T A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 156850795 156850795 T A SNP CTSO ENST00000433477 human ensembl 70_37 -1 known missense c.737 p.D246V 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSO HGNC CYP11B2 1585 genome.wustl.edu 37 8 143995805 143995805 + Nonsense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 143995805 143995805 C A SNP CYP11B2 ENST00000323110 human ensembl 70_37 -1 known nonsense c.829 p.E277* 0.633 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC CYP21A2 1589 genome.wustl.edu 37 6 32007219 32007219 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 32007219 32007219 C T SNP CYP21A2 ENST00000418967 human ensembl 70_37 +1 known silent c.534 p.F178 0.963 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP21A2 HGNC DCC 1630 genome.wustl.edu 37 18 50936959 50936959 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 18 50936959 50936959 C G SNP DCC ENST00000442544 human ensembl 70_37 +1 known missense c.3073 p.R1025G 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC DCHS2 54798 genome.wustl.edu 37 4 155157687 155157687 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 155157687 155157687 G C SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known missense c.6752 p.S2251C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC DCLRE1A 9937 genome.wustl.edu 37 10 115602142 115602142 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 115602142 115602142 G A SNP DCLRE1A ENST00000361384 human ensembl 70_37 -1 known silent c.2625 p.V875 1.000 NULL pfam_DRMBL - no_errors DCLRE1A HGNC DCLRE1C 64421 genome.wustl.edu 37 10 14978589 14978589 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 14978589 14978589 C T SNP DCLRE1C ENST00000378278 human ensembl 70_37 -1 known missense c.310 p.E104K 1.000 NULL pfam_DRMBL - no_errors DCLRE1C HGNC DEDD 9191 genome.wustl.edu 37 1 161091923 161091923 + RNA SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 161091923 161091923 G A SNP DEDD ENST00000486041 human ensembl 70_37 -1 known rna NULL NULL 0.040 - - - no_errors DEDD HGNC DEDD 9191 genome.wustl.edu 37 1 161092117 161092117 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 161092117 161092117 G A SNP DEDD ENST00000368005 human ensembl 70_37 -1 known silent c.867 p.F289 1.000 NULL pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED - no_errors DEDD HGNC DEDD 9191 genome.wustl.edu 37 1 161092266 161092266 + Missense_Mutation SNP G G T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 161092266 161092266 G T SNP DEDD ENST00000368005 human ensembl 70_37 -1 known missense c.718 p.L240M 1.000 NULL pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED - no_errors DEDD HGNC DENND4A 10260 genome.wustl.edu 37 15 66048590 66048590 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 66048590 66048590 C G SNP DENND4A ENST00000443035 human ensembl 70_37 -1 known missense c.199 p.D67H 1.000 pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC DGKH 160851 genome.wustl.edu 37 13 42830423 42830423 + RNA SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 13 42830423 42830423 C T SNP DGKH ENST00000498255 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors DGKH HGNC DGKH 160851 genome.wustl.edu 37 13 42830663 42830663 + RNA SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 13 42830663 42830663 C T SNP DGKH ENST00000498255 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors DGKH HGNC DLG4 1742 genome.wustl.edu 37 17 7099654 7099654 + Splice_Site SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 7099654 7099654 C G SNP DLG4 ENST00000293813 human ensembl 70_37 -1 known splice_site c.1316-1 e13-1 1.000 - - - no_errors DLG4 HGNC DLGAP5 9787 genome.wustl.edu 37 14 55650367 55650367 + Nonsense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 14 55650367 55650367 G A SNP DLGAP5 ENST00000247191 human ensembl 70_37 -1 known nonsense c.343 p.R115* 0.141 NULL pfam_GKAP - no_errors DLGAP5 HGNC DMAP1 55929 genome.wustl.edu 37 1 44684814 44684814 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 44684814 44684814 G C SNP DMAP1 ENST00000315913 human ensembl 70_37 +1 known missense c.807 p.Q269H 1.000 pfam_DMAP1 pfam_DMAP1,superfamily_Homeodomain-like - no_errors DMAP1 HGNC DMBT1 1755 genome.wustl.edu 37 10 124345695 124345695 + Missense_Mutation SNP G G T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 124345695 124345695 G T SNP DMBT1 ENST00000368915 human ensembl 70_37 +1 known missense c.1579 p.D527Y 0.998 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt - no_errors DMBT1 HGNC DMD 1756 genome.wustl.edu 37 X 32591732 32591732 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 32591732 32591732 G A SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.1727 p.S576L 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC DNAH11 8701 genome.wustl.edu 37 7 21789930 21789930 + Missense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 21789930 21789930 C A SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.8909 p.S2970Y 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC DST 667 genome.wustl.edu 37 6 56506864 56506864 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 56506864 56506864 C T SNP DST ENST00000370754 human ensembl 70_37 -1 known silent c.1809 p.Q603 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DTX3 196403 genome.wustl.edu 37 12 58002422 58002422 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 58002422 58002422 C T SNP DTX3 ENST00000551632 human ensembl 70_37 +1 known silent c.879 p.L293 0.998 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3 HGNC DYNC2H1 79659 genome.wustl.edu 37 11 103026188 103026188 + Silent SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 103026188 103026188 C G SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known silent c.3702 p.L1234 0.998 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC EBAG9 9166 genome.wustl.edu 37 8 110569206 110569206 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 110569206 110569206 G C SNP EBAG9 ENST00000337573 human ensembl 70_37 +1 known missense c.364 p.D122H 1.000 pirsf_Cancer-assoc_antigen_RCAS1 pirsf_Cancer-assoc_antigen_RCAS1 - no_errors EBAG9 HGNC EDC3 80153 genome.wustl.edu 37 15 74948272 74948272 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 74948272 74948272 C T SNP EDC3 ENST00000315127 human ensembl 70_37 -1 known missense c.622 p.G208R 1.000 pfam_FDF_dom pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom - no_errors EDC3 HGNC EDNRA 1909 genome.wustl.edu 37 4 148407187 148407187 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 148407187 148407187 G A SNP EDNRA ENST00000324300 human ensembl 70_37 +1 known silent c.354 p.L118 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn - no_errors EDNRA HGNC EGLN1 54583 genome.wustl.edu 37 1 231556755 231556755 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 231556755 231556755 C T SNP EGLN1 ENST00000366641 human ensembl 70_37 -1 known missense c.880 p.G294S 1.000 smart_Pro_4_hyd_alph pfam_Znf_MYND,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_Znf_MYND - no_errors EGLN1 HGNC EI24 9538 genome.wustl.edu 37 11 125453661 125453661 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 125453661 125453661 G A SNP EI24 ENST00000526081 human ensembl 70_37 +1 putative silent c.201 p.G67 0.988 NULL NULL - no_errors EI24 HGNC EIF2S1 1965 genome.wustl.edu 37 14 67847454 67847454 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 14 67847454 67847454 G C SNP EIF2S1 ENST00000256383 human ensembl 70_37 +1 known missense c.552 p.L184F 1.000 pfam_TIF_2_asu pfam_TIF_2_asu,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_TIF2_asu_C,superfamily_TIF2_asu_middle,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors EIF2S1 HGNC EIF3D 8664 genome.wustl.edu 37 22 36912933 36912933 + RNA SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 22 36912933 36912933 G A SNP EIF3D ENST00000462794 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors EIF3D HGNC ELOVL4 6785 genome.wustl.edu 37 6 80656984 80656984 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 80656984 80656984 C T SNP ELOVL4 ENST00000369816 human ensembl 70_37 -1 known missense c.13 p.D5N 1.000 NULL pfam_GNS1_SUR4 - no_errors ELOVL4 HGNC ELOVL6 79071 genome.wustl.edu 37 4 111119453 111119453 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 111119453 111119453 G A SNP ELOVL6 ENST00000394607 human ensembl 70_37 -1 known silent c.39 p.F13 0.939 NULL pfam_GNS1_SUR4 - no_errors ELOVL6 HGNC ENPP3 5169 genome.wustl.edu 37 6 132067987 132067987 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 132067987 132067987 G A SNP ENPP3 ENST00000357639 human ensembl 70_37 +1 known missense c.2519 p.R840H 0.979 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000234718 0 genome.wustl.edu 37 7 7782017 7782017 + RNA SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 7782017 7782017 G A SNP ENSG00000234718 ENST00000418534 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC007161.5 Clone_based_vega_gene ENSG00000239056 0 genome.wustl.edu 37 22 37344547 37344547 + RNA SNP T T C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 22 37344547 37344547 T C SNP ENSG00000239056 ENST00000459547 human ensembl 70_37 +1 novel rna NULL NULL 0.334 - - - no_errors snoU13 RFAM EPHX2 2053 genome.wustl.edu 37 8 27398141 27398141 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 27398141 27398141 C G SNP EPHX2 ENST00000521400 human ensembl 70_37 +1 known missense c.1347 p.F449L 0.970 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Epox_hydrolase-like,prints_Haloacid_DH/epoxide_hydro,prints_AB_hydrolase_1,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3 - no_errors EPHX2 HGNC ERP44 23071 genome.wustl.edu 37 9 102782991 102782991 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 9 102782991 102782991 C G SNP ERP44 ENST00000262455 human ensembl 70_37 -1 known missense c.494 p.G165A 1.000 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold - no_errors ERP44 HGNC FAM122C 159091 genome.wustl.edu 37 X 133941542 133941542 + RNA SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 133941542 133941542 C A SNP FAM122C ENST00000470657 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM122C HGNC FAN1 22909 genome.wustl.edu 37 15 31197561 31197561 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 31197561 31197561 G A SNP FAN1 ENST00000362065 human ensembl 70_37 +1 known missense c.695 p.R232K 0.000 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC FANCD2 2177 genome.wustl.edu 37 3 10142946 10142946 + Nonstop_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 10142946 10142946 G C SNP FANCD2 ENST00000383807 human ensembl 70_37 +1 known nonstop c.4356 p.*1452Y 0.744 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC FASN 2194 genome.wustl.edu 37 17 80038078 80038078 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 80038078 80038078 C T SNP FASN ENST00000306749 human ensembl 70_37 -1 known missense c.7084 p.E2362K 1.000 pfam_Thioesterase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC FBN1 2200 genome.wustl.edu 37 15 48703267 48703267 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 48703267 48703267 C T SNP FBN1 ENST00000316623 human ensembl 70_37 -1 known missense c.8536 p.E2846K 1.000 pirsf_FBN pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC FDPS 2224 genome.wustl.edu 37 1 155279951 155279951 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 155279951 155279951 G C SNP FDPS ENST00000356657 human ensembl 70_37 +1 known missense c.294 p.E98D 0.014 superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC FDXR 2232 genome.wustl.edu 37 17 72862305 72862305 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 72862305 72862305 C T SNP FDXR ENST00000581530 human ensembl 70_37 -1 known missense c.455 p.C152Y 0.080 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FDXR HGNC FGD4 121512 genome.wustl.edu 37 12 32735220 32735220 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 32735220 32735220 C T SNP FGD4 ENST00000427716 human ensembl 70_37 +1 known missense c.419 p.A140V 0.194 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC FUNDC1 139341 genome.wustl.edu 37 X 44383368 44383368 + RNA SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 44383368 44383368 G C SNP FUNDC1 ENST00000483115 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FUNDC1 HGNC GABRG2 2566 genome.wustl.edu 37 5 161520913 161520913 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 161520913 161520913 G A SNP GABRG2 ENST00000356592 human ensembl 70_37 +1 known missense c.187 p.E63K 1.000 prints_GABBAg_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC GABRG3 2567 genome.wustl.edu 37 15 27222246 27222246 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 27222246 27222246 C T SNP GABRG3 ENST00000333743 human ensembl 70_37 +1 known missense c.151 p.L51F 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC GALNT8 26290 genome.wustl.edu 37 12 4848368 4848368 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 4848368 4848368 C T SNP GALNT8 ENST00000252318 human ensembl 70_37 +1 known silent c.549 p.L183 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC GBF1 8729 genome.wustl.edu 37 10 104139678 104139678 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 104139678 104139678 G A SNP GBF1 ENST00000369983 human ensembl 70_37 +1 known silent c.4842 p.E1614 1.000 NULL pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors GBF1 HGNC GCM2 9247 genome.wustl.edu 37 6 10876766 10876766 + Missense_Mutation SNP G G T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 10876766 10876766 G T SNP GCM2 ENST00000379491 human ensembl 70_37 -1 known missense c.368 p.S123Y 0.993 pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC GDF6 392255 genome.wustl.edu 37 8 97157727 97157727 + Silent SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 97157727 97157727 C A SNP GDF6 ENST00000287020 human ensembl 70_37 -1 known silent c.432 p.R144 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC GDF7 151449 genome.wustl.edu 37 2 20871110 20871110 + Silent SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 20871110 20871110 C G SNP GDF7 ENST00000272224 human ensembl 70_37 +1 known silent c.1278 p.L426 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF7 HGNC GDI1 2664 genome.wustl.edu 37 X 153670074 153670074 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 153670074 153670074 C G SNP GDI1 ENST00000447750 human ensembl 70_37 +1 known missense c.924 p.I308M 1.000 pfam_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI1 HGNC GEN1 348654 genome.wustl.edu 37 2 17941369 17941369 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 17941369 17941369 C T SNP GEN1 ENST00000317402 human ensembl 70_37 +1 known silent c.159 p.L53 0.997 pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair - no_errors GEN1 HGNC GNS 2799 genome.wustl.edu 37 12 65115473 65115473 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 65115473 65115473 C T SNP GNS ENST00000258145 human ensembl 70_37 -1 known missense c.1321 p.D441N 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase - no_errors GNS HGNC GPATCH1 55094 genome.wustl.edu 37 19 33587166 33587166 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 33587166 33587166 C T SNP GPATCH1 ENST00000170564 human ensembl 70_37 +1 known silent c.666 p.V222 1.000 NULL pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom - no_errors GPATCH1 HGNC GPATCH2 55105 genome.wustl.edu 37 1 217787495 217787495 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 217787495 217787495 C T SNP GPATCH2 ENST00000366935 human ensembl 70_37 -1 known missense c.823 p.E275K 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC GPR128 84873 genome.wustl.edu 37 3 100413635 100413635 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 100413635 100413635 G A SNP GPR128 ENST00000273352 human ensembl 70_37 +1 known silent c.2184 p.Q728 0.840 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR128 HGNC GPR173 54328 genome.wustl.edu 37 X 53106338 53106338 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 53106338 53106338 C T SNP GPR173 ENST00000332582 human ensembl 70_37 +1 known missense c.535 p.R179C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR173 HGNC GPR176 11245 genome.wustl.edu 37 15 40099335 40099335 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 40099335 40099335 G A SNP GPR176 ENST00000561100 human ensembl 70_37 -1 known silent c.297 p.I99 0.995 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR176 HGNC HAUS5 23354 genome.wustl.edu 37 19 36106006 36106006 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 36106006 36106006 C T SNP HAUS5 ENST00000203166 human ensembl 70_37 +1 known silent c.282 p.L94 0.429 NULL NULL - no_errors HAUS5 HGNC HECW2 57520 genome.wustl.edu 37 2 197208446 197208446 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 197208446 197208446 C T SNP HECW2 ENST00000260983 human ensembl 70_37 -1 known missense c.335 p.G112D 1.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW2 HGNC HELB 92797 genome.wustl.edu 37 12 66696510 66696510 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 66696510 66696510 G A SNP HELB ENST00000247815 human ensembl 70_37 +1 known missense c.127 p.D43N 0.981 NULL NULL - no_errors HELB HGNC HFM1 164045 genome.wustl.edu 37 1 91851246 91851246 + Nonsense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 91851246 91851246 G A SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known nonsense c.640 p.Q214* 0.018 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC HLA-F 3134 genome.wustl.edu 37 6 29691698 29691698 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 29691698 29691698 G A SNP HLA-F ENST00000259951 human ensembl 70_37 +1 known missense c.328 p.E110K 0.933 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-F HGNC HNRNPH1 3187 genome.wustl.edu 37 5 179050119 179050119 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 179050119 179050119 C T SNP HNRNPH1 ENST00000356731 human ensembl 70_37 -1 known missense c.16 p.E6K 1.000 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH1 HGNC HOXC4 3221 genome.wustl.edu 37 12 54447709 54447709 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 54447709 54447709 G C SNP HOXC4 ENST00000303406 human ensembl 70_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC4 HGNC HOXC5 3222 genome.wustl.edu 37 12 54428265 54428265 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 54428265 54428265 G C SNP HOXC5 ENST00000312492 human ensembl 70_37 +1 known missense c.658 p.E220Q 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC5 HGNC IGF1R 3480 genome.wustl.edu 37 15 99500353 99500353 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 99500353 99500353 C T SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known silent c.3786 p.I1262 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,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 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC IGF1R 3480 genome.wustl.edu 37 15 99500356 99500356 + Silent SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 99500356 99500356 C A SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known silent c.3789 p.I1263 0.988 pirsf_Tyr_kinase_insulin-like_rcpt,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 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC IGSF22 283284 genome.wustl.edu 37 11 18736049 18736049 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 18736049 18736049 C G SNP IGSF22 ENST00000513874 human ensembl 70_37 -1 known missense c.1654 p.E552Q 0.999 smart_Ig_sub,smart_Ig_sub2 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 IGSF22 HGNC IL1RL2 8808 genome.wustl.edu 37 2 102851514 102851514 + Silent SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 102851514 102851514 C G SNP IL1RL2 ENST00000264257 human ensembl 70_37 +1 known silent c.1455 p.L485 0.929 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1 pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II,prints_IL1R_rcpt - no_errors IL1RL2 HGNC IL20RA 53832 genome.wustl.edu 37 6 137323176 137323176 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 137323176 137323176 G A SNP IL20RA ENST00000316649 human ensembl 70_37 -1 known missense c.1181 p.P394L 0.000 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL20RA HGNC IL9R 3581 genome.wustl.edu 37 X 155234190 155234190 + Missense_Mutation SNP G G T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 155234190 155234190 G T SNP IL9R ENST00000244174 human ensembl 70_37 +1 known missense c.539 p.S180I 0.429 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors IL9R HGNC IMPG1 3617 genome.wustl.edu 37 6 76660509 76660509 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 76660509 76660509 C T SNP IMPG1 ENST00000369950 human ensembl 70_37 -1 known missense c.1594 p.E532K 0.005 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG1 HGNC INTS4 92105 genome.wustl.edu 37 11 77590061 77590061 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 77590061 77590061 G A SNP INTS4 ENST00000534064 human ensembl 70_37 -1 known silent c.2826 p.I942 0.943 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC INTS4 92105 genome.wustl.edu 37 11 77614602 77614602 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 77614602 77614602 G A SNP INTS4 ENST00000534064 human ensembl 70_37 -1 known missense c.2081 p.S694L 1.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC IRS4 8471 genome.wustl.edu 37 X 107976265 107976265 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 107976265 107976265 G A SNP IRS4 ENST00000372129 human ensembl 70_37 -1 known missense c.3310 p.P1104S 0.623 NULL 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 ITGAL 3683 genome.wustl.edu 37 16 30485563 30485563 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 30485563 30485563 C T SNP ITGAL ENST00000356798 human ensembl 70_37 +1 known silent c.108 p.F36 0.904 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAL HGNC KCTD13 253980 genome.wustl.edu 37 16 29922489 29922489 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 29922489 29922489 G A SNP KCTD13 ENST00000308768 human ensembl 70_37 -1 known missense c.563 p.S188L 0.999 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD13 HGNC KDM5B 10765 genome.wustl.edu 37 1 202709925 202709925 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 202709925 202709925 C T SNP KDM5B ENST00000367265 human ensembl 70_37 -1 known silent c.2961 p.L987 0.318 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC KDM5B 10765 genome.wustl.edu 37 1 202710713 202710713 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 202710713 202710713 C T SNP KDM5B ENST00000367265 human ensembl 70_37 -1 known silent c.2727 p.E909 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC KIAA0100 9703 genome.wustl.edu 37 17 26942204 26942204 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 26942204 26942204 C T SNP KIAA0100 ENST00000005905 human ensembl 70_37 -1 known missense c.6586 p.E2196K 1.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC KIAA1109 84162 genome.wustl.edu 37 4 123145798 123145798 + Missense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 123145798 123145798 C A SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known missense c.2759 p.A920D 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC KIF25 3834 genome.wustl.edu 37 6 168443353 168443353 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 168443353 168443353 G A SNP KIF25 ENST00000354419 human ensembl 70_37 +1 known silent c.942 p.P314 0.157 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF25 HGNC KIF26B 55083 genome.wustl.edu 37 1 245848929 245848929 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 245848929 245848929 G A SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known missense c.2644 p.D882N 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC KIF7 374654 genome.wustl.edu 37 15 90190075 90190075 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 90190075 90190075 C G SNP KIF7 ENST00000394412 human ensembl 70_37 -1 known missense c.1774 p.E592Q 0.001 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC KLHL34 257240 genome.wustl.edu 37 X 21675600 21675600 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 21675600 21675600 G A SNP KLHL34 ENST00000379499 human ensembl 70_37 -1 known silent c.307 p.L103 0.998 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL34 HGNC KLRC1 3821 genome.wustl.edu 37 12 10601865 10601865 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 10601865 10601865 G A SNP KLRC1 ENST00000359151 human ensembl 70_37 -1 known silent c.460 p.L154 0.004 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRC1 HGNC KRTAP5-8 57830 genome.wustl.edu 37 11 71249659 71249659 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 71249659 71249659 G C SNP KRTAP5-8 ENST00000398534 human ensembl 70_37 +1 known missense c.558 p.K186N 0.995 NULL NULL - no_errors KRTAP5-8 HGNC KSR2 283455 genome.wustl.edu 37 12 117993045 117993045 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 117993045 117993045 G A SNP KSR2 ENST00000339824 human ensembl 70_37 -1 known silent c.1447 p.L483 0.992 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors KSR2 HGNC LAMA1 284217 genome.wustl.edu 37 18 7049150 7049150 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 18 7049150 7049150 C G SNP LAMA1 ENST00000389658 human ensembl 70_37 -1 known missense c.695 p.R232T 0.941 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC LEPREL1 55214 genome.wustl.edu 37 3 189711934 189711934 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 189711934 189711934 C G SNP LEPREL1 ENST00000319332 human ensembl 70_37 -1 known missense c.772 p.E258Q 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC LEPREL2 10536 genome.wustl.edu 37 12 6948234 6948234 + Nonsense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 6948234 6948234 G A SNP LEPREL2 ENST00000396725 human ensembl 70_37 +1 known nonsense c.1973 p.W658* 1.000 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors LEPREL2 HGNC LLGL2 3993 genome.wustl.edu 37 17 73559178 73559178 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 73559178 73559178 C T SNP LLGL2 ENST00000392550 human ensembl 70_37 +1 known silent c.612 p.I204 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC LMO1 4004 genome.wustl.edu 37 11 8246193 8246193 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 8246193 8246193 G A SNP LMO1 ENST00000335790 human ensembl 70_37 -1 known silent c.441 p.L147 1.000 pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO1 HGNC LOC100130331 100130331 genome.wustl.edu 37 1 238090796 238090796 + RNA SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 238090796 238090796 C T SNP LOC100130331 ENST00000450451 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-193H5.1 Clone_based_vega_gene LOC100134368 100134368 genome.wustl.edu 37 16 436993 436993 + RNA SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 436993 436993 C G SNP LOC100134368 ENST00000457760 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors Z97634.5 Clone_based_vega_gene LOC642778 642778 genome.wustl.edu 37 16 14819756 14819756 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 14819756 14819756 C T SNP LOC642778 ENST00000531598 human ensembl 70_37 +1 novel missense c.716 p.A239V 0.000 pfam_NPIP pfam_NPIP - no_errors RP11-719K4.1 Clone_based_vega_gene LRBA 987 genome.wustl.edu 37 4 151752977 151752977 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 151752977 151752977 G A SNP LRBA ENST00000357115 human ensembl 70_37 -1 known missense c.4721 p.S1574L 0.023 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC LRFN3 79414 genome.wustl.edu 37 19 36431465 36431465 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 36431465 36431465 G A SNP LRFN3 ENST00000246529 human ensembl 70_37 +1 known missense c.1138 p.E380K 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN3 HGNC LRP1 4035 genome.wustl.edu 37 12 57578643 57578643 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 57578643 57578643 G A SNP LRP1 ENST00000243077 human ensembl 70_37 +1 known missense c.6208 p.D2070N 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC LRRC31 79782 genome.wustl.edu 37 3 169566073 169566073 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 169566073 169566073 C T SNP LRRC31 ENST00000316428 human ensembl 70_37 -1 known missense c.1162 p.E388K 0.998 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC LRRC37A6P 387646 genome.wustl.edu 37 10 27537598 27537598 + RNA SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 27537598 27537598 C T SNP LRRC37A6P ENST00000284414 human ensembl 70_37 -1 known rna NULL NULL 0.081 - - - no_errors LRRC37A6P HGNC LRRC40 55631 genome.wustl.edu 37 1 70641557 70641557 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 70641557 70641557 G A SNP LRRC40 ENST00000370952 human ensembl 70_37 -1 known missense c.913 p.P305S 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC40 HGNC LRRC7 57554 genome.wustl.edu 37 1 70505043 70505043 + Missense_Mutation SNP A A T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 70505043 70505043 A T SNP LRRC7 ENST00000035383 human ensembl 70_37 +1 known missense c.3422 p.D1141V 0.871 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC LRRK2 120892 genome.wustl.edu 37 12 40728939 40728939 + Silent SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 40728939 40728939 C G SNP LRRK2 ENST00000298910 human ensembl 70_37 +1 known silent c.5928 p.L1976 0.038 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC LRSAM1 90678 genome.wustl.edu 37 9 130259564 130259564 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 9 130259564 130259564 G C SNP LRSAM1 ENST00000300417 human ensembl 70_37 +1 known missense c.1863 p.E621D 0.827 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC LSAMP 4045 genome.wustl.edu 37 3 115560717 115560717 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 115560717 115560717 G A SNP LSAMP ENST00000490035 human ensembl 70_37 -1 known silent c.894 p.V298 0.996 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LSAMP HGNC LTBP4 8425 genome.wustl.edu 37 19 41111379 41111379 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 41111379 41111379 G C SNP LTBP4 ENST00000308370 human ensembl 70_37 +1 known missense c.712 p.E238Q 1.000 NULL pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP4 HGNC MAGEB18 286514 genome.wustl.edu 37 X 26157793 26157793 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 26157793 26157793 G A SNP MAGEB18 ENST00000325250 human ensembl 70_37 +1 known missense c.691 p.D231N 0.136 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB18 HGNC MAGEE2 139599 genome.wustl.edu 37 X 75003459 75003459 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 75003459 75003459 G A SNP MAGEE2 ENST00000373359 human ensembl 70_37 -1 known silent c.1428 p.I476 0.998 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC MAGEH1 28986 genome.wustl.edu 37 X 55479285 55479285 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 55479285 55479285 G C SNP MAGEH1 ENST00000342972 human ensembl 70_37 +1 known missense c.478 p.E160Q 0.020 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEH1 HGNC MAML1 9794 genome.wustl.edu 37 5 179201031 179201031 + Nonsense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 179201031 179201031 C G SNP MAML1 ENST00000292599 human ensembl 70_37 +1 known nonsense c.2204 p.S735* 0.250 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC MAML1 9794 genome.wustl.edu 37 5 179201368 179201368 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 179201368 179201368 C T SNP MAML1 ENST00000292599 human ensembl 70_37 +1 known silent c.2541 p.L847 0.980 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC MDN1 23195 genome.wustl.edu 37 6 90484342 90484342 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 90484342 90484342 C G SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.1932 p.Q644H 0.997 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC MED1 5469 genome.wustl.edu 37 17 37571569 37571569 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 37571569 37571569 C T SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.1321 p.E441K 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC MEIS3P2 257468 genome.wustl.edu 37 17 20493608 20493608 + RNA SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 20493608 20493608 C A SNP MEIS3P2 ENST00000340731 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MEIS3P2 HGNC MEP1B 4225 genome.wustl.edu 37 18 29784241 29784241 + Silent SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 18 29784241 29784241 C G SNP MEP1B ENST00000269202 human ensembl 70_37 +1 known silent c.465 p.L155 0.951 pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom,prints_Peptidase_M12A,prints_MAM_dom - no_errors MEP1B HGNC MIR567 693152 genome.wustl.edu 37 3 111831724 111831724 + RNA DEL A A - TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 111831724 111831724 A - DEL MIR567 ENST00000385205 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR567 HGNC KMT2C 58508 genome.wustl.edu 37 7 151917764 151917764 + Nonsense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 151917764 151917764 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.3556 p.Q1186* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MRE11A 4361 genome.wustl.edu 37 11 94192676 94192676 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 94192676 94192676 C T SNP MRE11A ENST00000323929 human ensembl 70_37 -1 known silent c.1398 p.E466 0.965 pirsf_DNA_repair_Mre11 pfam_Mre11_DNA-bd,pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 - no_errors MRE11A HGNC MRPS30 10884 genome.wustl.edu 37 5 44813303 44813303 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 44813303 44813303 G A SNP MRPS30 ENST00000507110 human ensembl 70_37 +1 known missense c.949 p.A317T 1.000 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPS30 HGNC MTMR11 10903 genome.wustl.edu 37 1 149902287 149902287 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 149902287 149902287 G C SNP MTMR11 ENST00000439741 human ensembl 70_37 -1 known missense c.1617 p.H539Q 0.996 NULL pfam_Myotubularin_assoc,pfam_Myotub-related - no_errors MTMR11 HGNC MXRA5 25878 genome.wustl.edu 37 X 3229099 3229099 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 3229099 3229099 G A SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known missense c.7145 p.S2382F 0.947 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC MYO5A 4644 genome.wustl.edu 37 15 52671836 52671836 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 52671836 52671836 C T SNP MYO5A ENST00000358212 human ensembl 70_37 -1 known missense c.2194 p.E732K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC MYO7B 4648 genome.wustl.edu 37 2 128340010 128340010 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 128340010 128340010 C T SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known silent c.1332 p.F444 0.691 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC NAALADL2 254827 genome.wustl.edu 37 3 174814830 174814830 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 174814830 174814830 G C SNP NAALADL2 ENST00000454872 human ensembl 70_37 +1 known missense c.294 p.Q98H 0.998 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC NCAPG 64151 genome.wustl.edu 37 4 17839398 17839398 + Nonsense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 17839398 17839398 C T SNP NCAPG ENST00000251496 human ensembl 70_37 +1 known nonsense c.2440 p.Q814* 1.000 NULL superfamily_ARM-type_fold - no_errors NCAPG HGNC NCKAP1 10787 genome.wustl.edu 37 2 183826922 183826922 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 183826922 183826922 C T SNP NCKAP1 ENST00000360982 human ensembl 70_37 -1 known missense c.1864 p.D622N 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC NEFH 4744 genome.wustl.edu 37 22 29886321 29886321 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 22 29886321 29886321 G A SNP NEFH ENST00000310624 human ensembl 70_37 +1 known missense c.2692 p.E898K 0.585 NULL pfam_F,pfam_DUF1388 - no_errors NEFH HGNC NFE2L2 4780 genome.wustl.edu 37 2 178098960 178098960 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 178098960 178098960 C G SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.85 p.D29H 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC NKAIN2 154215 genome.wustl.edu 37 6 124979388 124979388 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 124979388 124979388 G A SNP NKAIN2 ENST00000368417 human ensembl 70_37 +1 known silent c.330 p.E110 1.000 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN2 HGNC NLRP11 204801 genome.wustl.edu 37 19 56321310 56321310 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 56321310 56321310 C G SNP NLRP11 ENST00000443188 human ensembl 70_37 -1 known missense c.666 p.K222N 0.001 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC NPTN 27020 genome.wustl.edu 37 15 73889684 73889684 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 73889684 73889684 C G SNP NPTN ENST00000345330 human ensembl 70_37 -1 known missense c.118 p.E40Q 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_MFS_dom_general_subst_transpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors NPTN HGNC NR6A1 2649 genome.wustl.edu 37 9 127300382 127300382 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 9 127300382 127300382 C G SNP NR6A1 ENST00000487099 human ensembl 70_37 -1 known missense c.813 p.L271F 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR6A1 HGNC NRXN1 9378 genome.wustl.edu 37 2 50765725 50765725 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 50765725 50765725 C T SNP NRXN1 ENST00000402717 human ensembl 70_37 -1 known silent c.1785 p.E595 1.000 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,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC OR2B2 81697 genome.wustl.edu 37 6 27879219 27879219 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 27879219 27879219 C G SNP OR2B2 ENST00000303324 human ensembl 70_37 -1 known missense c.879 p.R293S 0.178 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B2 HGNC OR4C16 219428 genome.wustl.edu 37 11 55340452 55340452 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 55340452 55340452 G A SNP OR4C16 ENST00000314634 human ensembl 70_37 +1 known silent c.849 p.V283 0.374 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC OR4C6 219432 genome.wustl.edu 37 11 55432918 55432918 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 55432918 55432918 C T SNP OR4C6 ENST00000314259 human ensembl 70_37 +1 known silent c.276 p.L92 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C6 HGNC OR5H6 79295 genome.wustl.edu 37 3 97983234 97983234 + Nonsense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 97983234 97983234 C T SNP OR5H6 ENST00000383696 human ensembl 70_37 +1 known nonsense c.106 p.Q36* 0.004 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H6 HGNC OR9Q1 219956 genome.wustl.edu 37 11 57947066 57947066 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 57947066 57947066 C T SNP OR9Q1 ENST00000335397 human ensembl 70_37 +1 known silent c.150 p.L50 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9Q1 HGNC PAK2 5062 genome.wustl.edu 37 3 196532222 196532222 + Splice_Site SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 196532222 196532222 G A SNP PAK2 ENST00000327134 human ensembl 70_37 +1 known splice_site c.437-1 e4-1 1.000 - - - no_errors PAK2 HGNC PARP14 54625 genome.wustl.edu 37 3 122439176 122439176 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 122439176 122439176 G C SNP PARP14 ENST00000474629 human ensembl 70_37 +1 known missense c.4882 p.E1628Q 0.981 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC PCDH17 27253 genome.wustl.edu 37 13 58208026 58208026 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 13 58208026 58208026 C T SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known missense c.1346 p.S449F 0.624 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC PCF11 51585 genome.wustl.edu 37 11 82880510 82880510 + Nonsense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 82880510 82880510 C T SNP PCF11 ENST00000298281 human ensembl 70_37 +1 known nonsense c.3133 p.Q1045* 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors PCF11 HGNC PDPR 55066 genome.wustl.edu 37 16 70190480 70190480 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 70190480 70190480 G C SNP PDPR ENST00000288050 human ensembl 70_37 +1 known missense c.2338 p.D780H 1.000 pfam_GCV_T_C pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC PDZD2 23037 genome.wustl.edu 37 5 32088583 32088583 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 32088583 32088583 G A SNP PDZD2 ENST00000282493 human ensembl 70_37 +1 known missense c.5029 p.E1677K 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC PFKFB1 5207 genome.wustl.edu 37 X 54982618 54982618 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 54982618 54982618 G A SNP PFKFB1 ENST00000375006 human ensembl 70_37 -1 known silent c.606 p.V202 0.645 pfam_6Phosfructo_kin,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB1 HGNC PHF12 57649 genome.wustl.edu 37 17 27251153 27251153 + Missense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 27251153 27251153 C A SNP PHF12 ENST00000332830 human ensembl 70_37 -1 known missense c.489 p.R163S 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC GSAP 54103 genome.wustl.edu 37 7 77010632 77010632 + Missense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 77010632 77010632 C A SNP PION ENST00000257626 human ensembl 70_37 -1 known missense c.566 p.G189V 0.944 NULL NULL - no_errors PION HGNC PIWIL1 9271 genome.wustl.edu 37 12 130827568 130827568 + Nonsense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 130827568 130827568 C T SNP PIWIL1 ENST00000245255 human ensembl 70_37 +1 known nonsense c.112 p.Q38* 0.817 pfam_GAGE pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL1 HGNC PKHD1L1 93035 genome.wustl.edu 37 8 110393634 110393634 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 110393634 110393634 G A SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.199 p.D67N 1.000 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC PLBD1 79887 genome.wustl.edu 37 12 14659187 14659187 + Missense_Mutation SNP G G T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 14659187 14659187 G T SNP PLBD1 ENST00000240617 human ensembl 70_37 -1 known missense c.1388 p.P463H 0.997 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD1 HGNC PLCL2 23228 genome.wustl.edu 37 3 17051428 17051428 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 17051428 17051428 G A SNP PLCL2 ENST00000418129 human ensembl 70_37 +1 known missense c.212 p.G71E 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC PLP1 5354 genome.wustl.edu 37 X 103042605 103042605 + RNA SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 103042605 103042605 G A SNP PLP1 ENST00000466486 human ensembl 70_37 +1 known rna NULL NULL 0.840 - - - no_errors PLP1 HGNC POU3F1 5453 genome.wustl.edu 37 1 38511656 38511656 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 38511656 38511656 C T SNP POU3F1 ENST00000373012 human ensembl 70_37 -1 known missense c.760 p.D254N 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,pfscan_POU_specific pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU3F1 HGNC PPCDC 60490 genome.wustl.edu 37 15 75335866 75335866 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 75335866 75335866 G A SNP PPCDC ENST00000342932 human ensembl 70_37 +1 known missense c.220 p.D74N 1.000 pfam_Flavoprotein,superfamily_Flavoprotein pfam_Flavoprotein,superfamily_Flavoprotein - no_errors PPCDC HGNC PPP1R12B 4660 genome.wustl.edu 37 1 202418211 202418211 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 202418211 202418211 C T SNP PPP1R12B ENST00000336894 human ensembl 70_37 +1 known missense c.1762 p.L588F 0.181 pirsf_Pase-1_reg_su_12A/B/C_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC PPP1R3A 5506 genome.wustl.edu 37 7 113558804 113558804 + Nonsense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 113558804 113558804 C T SNP PPP1R3A ENST00000284601 human ensembl 70_37 -1 known nonsense c.248 p.W83* 1.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC PRAMEF12 390999 genome.wustl.edu 37 1 12835064 12835064 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 12835064 12835064 G A SNP PRAMEF12 ENST00000357726 human ensembl 70_37 +1 known silent c.54 p.L18 0.019 NULL NULL - no_errors PRAMEF12 HGNC PRKCB 5579 genome.wustl.edu 37 16 24166139 24166139 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 24166139 24166139 G A SNP PRKCB ENST00000303531 human ensembl 70_37 +1 known silent c.1200 p.P400 0.055 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_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC PRMT1 3276 genome.wustl.edu 37 19 50188017 50188017 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 50188017 50188017 G A SNP PRMT1 ENST00000454376 human ensembl 70_37 +1 known missense c.562 p.D188N 0.677 pfam_Arg_MeTrfase,pfam_Methyltransf_11 pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT1 HGNC PRX 57716 genome.wustl.edu 37 19 40902682 40902682 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 40902682 40902682 G A SNP PRX ENST00000324001 human ensembl 70_37 -1 known missense c.1577 p.S526L 0.007 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC PSPH 5723 genome.wustl.edu 37 7 56082739 56082739 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 56082739 56082739 C T SNP PSPH ENST00000275605 human ensembl 70_37 -1 known missense c.547 p.D183N 1.000 pfam_Dehalogen-like_hydro,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_Dehalogen-like_hydro,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PSPH HGNC PTCH2 8643 genome.wustl.edu 37 1 45293815 45293815 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 45293815 45293815 G A SNP PTCH2 ENST00000372192 human ensembl 70_37 -1 known silent c.1758 p.D586 0.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC PTPN13 5783 genome.wustl.edu 37 4 87643569 87643569 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 87643569 87643569 G C SNP PTPN13 ENST00000436978 human ensembl 70_37 +1 known missense c.1590 p.M530I 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC PTPRK 5796 genome.wustl.edu 37 6 128643434 128643434 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 128643434 128643434 G C SNP PTPRK ENST00000368227 human ensembl 70_37 -1 known missense c.245 p.S82C 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC RASA1 5921 genome.wustl.edu 37 5 86564633 86564633 + Nonsense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 86564633 86564633 C A SNP RASA1 ENST00000274376 human ensembl 70_37 +1 known nonsense c.365 p.S122* 0.126 NULL pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC RASGEF1A 221002 genome.wustl.edu 37 10 43696186 43696186 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 43696186 43696186 C T SNP RASGEF1A ENST00000395809 human ensembl 70_37 -1 known missense c.610 p.A204T 0.001 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1A HGNC RASL10A 10633 genome.wustl.edu 37 22 29709663 29709664 + RNA INS - - C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 22 29709663 29709664 - C INS RASL10A ENST00000474590 human ensembl 70_37 -1 known rna NULL NULL 0.008:0.008 - - - no_errors RASL10A HGNC RBBP8 5932 genome.wustl.edu 37 18 20573283 20573283 + Nonsense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 18 20573283 20573283 C A SNP RBBP8 ENST00000327155 human ensembl 70_37 +1 known nonsense c.1493 p.S498* 1.000 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC RBBP8 5932 genome.wustl.edu 37 18 20573291 20573291 + Nonsense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 18 20573291 20573291 C T SNP RBBP8 ENST00000327155 human ensembl 70_37 +1 known nonsense c.1501 p.Q501* 0.253 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC RBM34 23029 genome.wustl.edu 37 1 235295079 235295079 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 235295079 235295079 C G SNP RBM34 ENST00000408888 human ensembl 70_37 -1 known missense c.1242 p.K414N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM34 HGNC REG1B 5968 genome.wustl.edu 37 2 79313951 79313951 + Missense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 79313951 79313951 C A SNP REG1B ENST00000305089 human ensembl 70_37 -1 known missense c.170 p.W57L 0.871 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG1B HGNC RGPD4 285190 genome.wustl.edu 37 2 108489230 108489230 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 108489230 108489230 G A SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known silent c.4770 p.Q1590 0.985 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC RLTPR 146206 genome.wustl.edu 37 16 67688786 67688786 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 67688786 67688786 G A SNP RLTPR ENST00000334583 human ensembl 70_37 +1 known missense c.3688 p.E1230K 0.972 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC RNF213 57674 genome.wustl.edu 37 17 78332128 78332128 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 78332128 78332128 C T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known silent c.10903 p.L3635 0.940 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC RNF213 57674 genome.wustl.edu 37 17 78355466 78355466 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 78355466 78355466 C T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known silent c.13917 p.I4639 0.002 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC RPL13A 23521 genome.wustl.edu 37 19 49993523 49993523 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 49993523 49993523 C G SNP RPL13A ENST00000391857 human ensembl 70_37 +1 known missense c.123 p.I41M 1.000 pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc - no_errors RPL13A HGNC RPL6 6128 genome.wustl.edu 37 12 112846139 112846139 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 112846139 112846139 C T SNP RPL6 ENST00000202773 human ensembl 70_37 -1 known missense c.241 p.E81K 1.000 pfam_Ribosomal_L6_N pfam_Ribosomal_L6E,pfam_Ribosomal_L6_N,superfamily_Translation_prot_SH3-like - no_errors RPL6 HGNC RPL7A 6130 genome.wustl.edu 37 9 136217463 136217463 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 9 136217463 136217463 C G SNP RPL7A ENST00000323345 human ensembl 70_37 +1 known missense c.507 p.F169L 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2 - no_errors RPL7A HGNC RPS27A 6233 genome.wustl.edu 37 2 55459972 55459972 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 55459972 55459972 C T SNP RPS27A ENST00000272317 human ensembl 70_37 +1 known silent c.12 p.F4 1.000 pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_Ribosomal_S27a,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors RPS27A HGNC RS1 6247 genome.wustl.edu 37 X 18662593 18662593 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 18662593 18662593 C T SNP RS1 ENST00000379984 human ensembl 70_37 -1 known missense c.479 p.R160H 0.979 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors RS1 HGNC RSPH6A 81492 genome.wustl.edu 37 19 46307553 46307553 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 46307553 46307553 G C SNP RSPH6A ENST00000221538 human ensembl 70_37 -1 known missense c.1610 p.S537C 0.995 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC SAPCD1 401251 genome.wustl.edu 37 6 31732268 31732268 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 31732268 31732268 G A SNP SAPCD1 ENST00000415669 human ensembl 70_37 +1 known missense c.497 p.R166Q 0.000 NULL pfam_APC_dom - no_errors SAPCD1 HGNC SCN8A 6334 genome.wustl.edu 37 12 52159725 52159725 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 52159725 52159725 G C SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known missense c.2815 p.E939Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC SCNN1G 6340 genome.wustl.edu 37 16 23224213 23224213 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 23224213 23224213 G C SNP SCNN1G ENST00000300061 human ensembl 70_37 +1 known missense c.1429 p.E477Q 0.972 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC SEMG1 6406 genome.wustl.edu 37 20 43836630 43836630 + Nonsense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 20 43836630 43836630 C G SNP SEMG1 ENST00000372781 human ensembl 70_37 +1 known nonsense c.692 p.S231* 0.002 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG1 HGNC SENP6 26054 genome.wustl.edu 37 6 76380320 76380320 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 76380320 76380320 C G SNP SENP6 ENST00000370014 human ensembl 70_37 +1 known missense c.1276 p.Q426E 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP6 HGNC SESN2 83667 genome.wustl.edu 37 1 28599131 28599131 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 28599131 28599131 G A SNP SESN2 ENST00000253063 human ensembl 70_37 +1 known missense c.577 p.E193K 1.000 pfam_PA26 pfam_PA26 - no_errors SESN2 HGNC SGPL1 8879 genome.wustl.edu 37 10 72633330 72633330 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 72633330 72633330 C T SNP SGPL1 ENST00000373202 human ensembl 70_37 +1 known missense c.1282 p.R428C 1.000 pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SGPL1 HGNC SH3TC2 79628 genome.wustl.edu 37 5 148406351 148406351 + Nonsense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 148406351 148406351 G A SNP SH3TC2 ENST00000394358 human ensembl 70_37 -1 known nonsense c.2599 p.Q867* 0.000 NULL pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3TC2 HGNC SHCBP1 79801 genome.wustl.edu 37 16 46655178 46655178 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 46655178 46655178 G A SNP SHCBP1 ENST00000303383 human ensembl 70_37 -1 known silent c.94 p.L32 0.000 NULL superfamily_Pectin_lyase_fold/virulence,smart_PbH1 - no_errors SHCBP1 HGNC SHKBP1 92799 genome.wustl.edu 37 19 41083468 41083468 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 41083468 41083468 C T SNP SHKBP1 ENST00000595523 human ensembl 70_37 +1 known missense c.20 p.S7L 1.000 NULL NULL - no_errors SHKBP1 HGNC SHROOM2 357 genome.wustl.edu 37 X 9864427 9864427 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 9864427 9864427 G A SNP SHROOM2 ENST00000380913 human ensembl 70_37 +1 known missense c.2479 p.E827K 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC SI 6476 genome.wustl.edu 37 3 164710130 164710130 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 164710130 164710130 C T SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.4897 p.A1633T 1.000 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC SLC12A4 6560 genome.wustl.edu 37 16 67986291 67986291 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 67986291 67986291 G A SNP SLC12A4 ENST00000422611 human ensembl 70_37 -1 known missense c.719 p.S240L 0.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC SLC1A5 6510 genome.wustl.edu 37 19 47287779 47287779 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 47287779 47287779 G A SNP SLC1A5 ENST00000542575 human ensembl 70_37 -1 known missense c.604 p.R202C 0.998 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A5 HGNC SLC24A5 283652 genome.wustl.edu 37 15 48414129 48414129 + Missense_Mutation SNP A A G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 48414129 48414129 A G SNP SLC24A5 ENST00000341459 human ensembl 70_37 +1 known missense c.197 p.D66G 0.984 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A5 HGNC SLC2A8 29988 genome.wustl.edu 37 9 130167187 130167187 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 9 130167187 130167187 C T SNP SLC2A8 ENST00000373371 human ensembl 70_37 +1 known missense c.1067 p.S356L 0.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A8 HGNC SLC39A5 283375 genome.wustl.edu 37 12 56625235 56625235 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 56625235 56625235 G A SNP SLC39A5 ENST00000266980 human ensembl 70_37 +1 known silent c.177 p.A59 0.004 NULL pfam_ZIP - no_errors SLC39A5 HGNC SLC45A3 85414 genome.wustl.edu 37 1 205632701 205632701 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 205632701 205632701 G A SNP SLC45A3 ENST00000367145 human ensembl 70_37 -1 known missense c.218 p.S73L 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A3 HGNC SLC4A4 8671 genome.wustl.edu 37 4 72413402 72413402 + Missense_Mutation SNP A A T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 72413402 72413402 A T SNP SLC4A4 ENST00000425175 human ensembl 70_37 +1 known missense c.2659 p.T887S 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC SLC52A2 79581 genome.wustl.edu 37 8 145584267 145584267 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 145584267 145584267 G A SNP SLC52A2 ENST00000329994 human ensembl 70_37 +1 known missense c.1019 p.G340D 0.871 pfam_Endogenous_retrovirus_rcpt pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A2 HGNC SLC9A4 389015 genome.wustl.edu 37 2 103095452 103095452 + Silent SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 103095452 103095452 C A SNP SLC9A4 ENST00000295269 human ensembl 70_37 +1 known silent c.411 p.P137 1.000 pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC SLC9A5 6553 genome.wustl.edu 37 16 67288978 67288978 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 67288978 67288978 C T SNP SLC9A5 ENST00000299798 human ensembl 70_37 +1 known missense c.545 p.S182L 1.000 pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC SLC9B2 133308 genome.wustl.edu 37 4 103979062 103979062 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 103979062 103979062 C T SNP SLC9B2 ENST00000362026 human ensembl 70_37 -1 known missense c.338 p.G113E 1.000 NULL pfam_Cation/H_exchanger - no_errors SLC9B2 HGNC SLIT2 9353 genome.wustl.edu 37 4 20530646 20530646 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 20530646 20530646 G A SNP SLIT2 ENST00000504154 human ensembl 70_37 +1 known missense c.1537 p.E513K 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC SMC6 79677 genome.wustl.edu 37 2 17902454 17902454 + Missense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 17902454 17902454 C A SNP SMC6 ENST00000381272 human ensembl 70_37 -1 known missense c.879 p.M293I 1.000 NULL NULL - no_errors SMC6 HGNC SMCHD1 23347 genome.wustl.edu 37 18 2740770 2740770 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 18 2740770 2740770 C T SNP SMCHD1 ENST00000320876 human ensembl 70_37 +1 known missense c.3584 p.S1195L 0.999 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC SNAI1 6615 genome.wustl.edu 37 20 48604538 48604538 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 20 48604538 48604538 G C SNP SNAI1 ENST00000244050 human ensembl 70_37 +1 known missense c.740 p.R247P 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI1 HGNC SNORD67 692108 genome.wustl.edu 37 11 46783966 46783966 + RNA SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 46783966 46783966 G A SNP SNORD67 ENST00000390833 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORD67 HGNC SORCS2 57537 genome.wustl.edu 37 4 7725534 7725534 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 7725534 7725534 C T SNP SORCS2 ENST00000507866 human ensembl 70_37 +1 known silent c.2535 p.P845 0.071 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC SORL1 6653 genome.wustl.edu 37 11 121491799 121491799 + Silent SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 121491799 121491799 C G SNP SORL1 ENST00000260197 human ensembl 70_37 +1 known silent c.5916 p.L1972 0.021 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC SOX2 6657 genome.wustl.edu 37 3 181430620 181430620 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 181430620 181430620 G A SNP SOX2 ENST00000325404 human ensembl 70_37 +1 known missense c.472 p.D158N 1.000 pfam_TF_SOX pfam_TF_SOX,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX2 HGNC SP7 121340 genome.wustl.edu 37 12 53722969 53722969 + Nonsense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 53722969 53722969 G C SNP SP7 ENST00000303846 human ensembl 70_37 -1 known nonsense c.257 p.S86* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP7 HGNC SP7 121340 genome.wustl.edu 37 12 53723062 53723062 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 53723062 53723062 G A SNP SP7 ENST00000303846 human ensembl 70_37 -1 known missense c.164 p.S55L 0.984 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP7 HGNC SPATA4 132851 genome.wustl.edu 37 4 177113837 177113837 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 177113837 177113837 G A SNP SPATA4 ENST00000280191 human ensembl 70_37 -1 known missense c.629 p.A210V 0.004 pfam_DUF1042 pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors SPATA4 HGNC SRBD1 55133 genome.wustl.edu 37 2 45704134 45704134 + Nonsense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 45704134 45704134 G A SNP SRBD1 ENST00000263736 human ensembl 70_37 -1 known nonsense c.2047 p.Q683* 1.000 NULL pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC SRCAP 10847 genome.wustl.edu 37 16 30721400 30721400 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 30721400 30721400 G A SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.1085 p.R362Q 0.003 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC SRCAP 10847 genome.wustl.edu 37 16 30723240 30723240 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 30723240 30723240 C T SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.1577 p.S526F 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC SRCAP 10847 genome.wustl.edu 37 16 30723395 30723395 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 30723395 30723395 C G SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.1732 p.L578V 0.985 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC SRRM2 23524 genome.wustl.edu 37 16 2812813 2812813 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 2812813 2812813 C G SNP SRRM2 ENST00000301740 human ensembl 70_37 +1 known missense c.2284 p.L762V 0.996 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ST3GAL5 8869 genome.wustl.edu 37 2 86075024 86075024 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 86075024 86075024 C T SNP ST3GAL5 ENST00000377332 human ensembl 70_37 -1 known missense c.622 p.E208K 0.431 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL5 HGNC STAG2 10735 genome.wustl.edu 37 X 123164963 123164963 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 123164963 123164963 G C SNP STAG2 ENST00000218089 human ensembl 70_37 +1 known missense c.276 p.K92N 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC STK10 6793 genome.wustl.edu 37 5 171481675 171481675 + Missense_Mutation SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 171481675 171481675 C A SNP STK10 ENST00000176763 human ensembl 70_37 -1 known missense c.2550 p.R850S 1.000 pfam_PKK pfam_PKK,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 STK10 HGNC STK10 6793 genome.wustl.edu 37 5 171533901 171533902 + RNA INS - - GG TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 171533901 171533902 - GG INS STK10 ENST00000517381 human ensembl 70_37 -1 putative rna NULL NULL 0.004:0.000 - - - no_errors STK10 HGNC SUPT6H 6830 genome.wustl.edu 37 17 27020847 27020847 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 27020847 27020847 G A SNP SUPT6H ENST00000314616 human ensembl 70_37 +1 known missense c.3767 p.R1256Q 1.000 pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pirsf_TF_Spt6,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC SYMPK 8189 genome.wustl.edu 37 19 46341781 46341781 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 46341781 46341781 C G SNP SYMPK ENST00000245934 human ensembl 70_37 -1 known missense c.1180 p.D394H 1.000 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC TCERG1L 256536 genome.wustl.edu 37 10 133106525 133106525 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 133106525 133106525 G A SNP TCERG1L ENST00000368642 human ensembl 70_37 -1 known missense c.619 p.P207S 0.579 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1L HGNC TCF21 6943 genome.wustl.edu 37 6 134210908 134210908 + Missense_Mutation SNP T T A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 6 134210908 134210908 T A SNP TCF21 ENST00000237316 human ensembl 70_37 +1 known missense c.373 p.S125T 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TCF21 HGNC TCHP 84260 genome.wustl.edu 37 12 110345389 110345389 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 110345389 110345389 G A SNP TCHP ENST00000312777 human ensembl 70_37 +1 known missense c.584 p.R195Q 0.124 NULL NULL - no_errors TCHP HGNC TENM1 10178 genome.wustl.edu 37 X 123695634 123695634 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 123695634 123695634 C T SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.2321 p.R774Q 0.999 smart_EG-like_dom,pfscan_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC TEX9 374618 genome.wustl.edu 37 15 56686955 56686955 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 15 56686955 56686955 G C SNP TEX9 ENST00000352903 human ensembl 70_37 +1 known missense c.751 p.E251Q 1.000 NULL NULL - no_errors TEX9 HGNC TLE4 7091 genome.wustl.edu 37 9 82308552 82308552 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 9 82308552 82308552 G A SNP TLE4 ENST00000376520 human ensembl 70_37 +1 known missense c.596 p.R199K 0.001 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC TLR8 51311 genome.wustl.edu 37 X 12939946 12939946 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 12939946 12939946 C T SNP TLR8 ENST00000218032 human ensembl 70_37 +1 known silent c.2787 p.I929 0.739 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC TMC2 117532 genome.wustl.edu 37 20 2594061 2594061 + RNA SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 20 2594061 2594061 C G SNP TMC2 ENST00000496948 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors TMC2 HGNC TMEM104 54868 genome.wustl.edu 37 17 72832424 72832424 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 72832424 72832424 C T SNP TMEM104 ENST00000335464 human ensembl 70_37 +1 known silent c.1089 p.F363 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors TMEM104 HGNC TMEM132C 92293 genome.wustl.edu 37 12 128899683 128899683 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 128899683 128899683 G A SNP TMEM132C ENST00000435159 human ensembl 70_37 +1 known silent c.492 p.G164 0.000 NULL NULL - no_errors TMEM132C HGNC TMEM51 55092 genome.wustl.edu 37 1 15541908 15541908 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 15541908 15541908 C G SNP TMEM51 ENST00000376008 human ensembl 70_37 +1 known missense c.325 p.H109D 0.002 NULL NULL - no_errors TMEM51 HGNC TNIK 23043 genome.wustl.edu 37 3 170858220 170858220 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 170858220 170858220 C T SNP TNIK ENST00000436636 human ensembl 70_37 -1 known missense c.1300 p.E434K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,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 TNIK HGNC TNRC6A 27327 genome.wustl.edu 37 16 24831599 24831599 + Missense_Mutation SNP G G T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 24831599 24831599 G T SNP TNRC6A ENST00000395799 human ensembl 70_37 +1 known missense c.5220 p.Q1740H 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC TRAF5 7188 genome.wustl.edu 37 1 211545904 211545904 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 211545904 211545904 G C SNP TRAF5 ENST00000261464 human ensembl 70_37 +1 known missense c.1534 p.D512H 0.348 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF5 HGNC TRIM42 287015 genome.wustl.edu 37 3 140401568 140401568 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 140401568 140401568 G C SNP TRIM42 ENST00000286349 human ensembl 70_37 +1 known missense c.606 p.K202N 1.000 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC TRO 7216 genome.wustl.edu 37 X 54950197 54950197 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 54950197 54950197 G A SNP TRO ENST00000173898 human ensembl 70_37 +1 known missense c.1232 p.R411Q 0.997 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC TSPAN8 7103 genome.wustl.edu 37 12 71526553 71526553 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 12 71526553 71526553 G C SNP TSPAN8 ENST00000247829 human ensembl 70_37 -1 known missense c.496 p.Q166E 0.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN8 HGNC TSPYL5 85453 genome.wustl.edu 37 8 98289988 98289988 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 98289988 98289988 G C SNP TSPYL5 ENST00000322128 human ensembl 70_37 -1 known missense c.85 p.P29A 0.027 NULL pfam_NAP_family - no_errors TSPYL5 HGNC TTN 7273 genome.wustl.edu 37 2 179427450 179427450 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 179427450 179427450 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.75705 p.V25235 0.979 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179579852 179579852 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 179579852 179579852 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.22329 p.K7443 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179638652 179638652 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 179638652 179638652 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.7243 p.E2415Q 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TUBBP1 92755 genome.wustl.edu 37 8 30209689 30209689 + RNA SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 30209689 30209689 G A SNP TUBBP1 ENST00000518096 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors TUBBP1 HGNC UBA1 7317 genome.wustl.edu 37 X 47062948 47062948 + Silent SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 47062948 47062948 G C SNP UBA1 ENST00000335972 human ensembl 70_37 +1 known silent c.1428 p.A476 0.779 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC UGDH 7358 genome.wustl.edu 37 4 39507311 39507311 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 4 39507311 39507311 G A SNP UGDH ENST00000316423 human ensembl 70_37 -1 known silent c.964 p.L322 1.000 superfamily_UDP-Glc/GDP-Man_DH_C,tigrfam_Nucleotide_sugar_DH pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Nucleotide_sugar_DH - no_errors UGDH HGNC UGT3A2 167127 genome.wustl.edu 37 5 36038116 36038116 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 5 36038116 36038116 G A SNP UGT3A2 ENST00000282507 human ensembl 70_37 -1 known missense c.1078 p.H360Y 1.000 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC UNC13D 201294 genome.wustl.edu 37 17 73838975 73838975 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 17 73838975 73838975 C T SNP UNC13D ENST00000412096 human ensembl 70_37 -1 known silent c.351 p.V117 0.994 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors UNC13D HGNC UNC79 57578 genome.wustl.edu 37 14 94152932 94152932 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 14 94152932 94152932 G A SNP UNC79 ENST00000553484 human ensembl 70_37 +1 known silent c.7017 p.A2339 0.076 NULL superfamily_ARM-type_fold - no_errors UNC79 HGNC USP28 57646 genome.wustl.edu 37 11 113698046 113698046 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 11 113698046 113698046 C T SNP USP28 ENST00000003302 human ensembl 70_37 -1 known missense c.1096 p.E366K 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_UBA-like,pfscan_Peptidase_C19 - no_errors USP28 HGNC USP34 9736 genome.wustl.edu 37 2 61493135 61493135 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 61493135 61493135 C T SNP USP34 ENST00000398571 human ensembl 70_37 -1 known missense c.5601 p.M1867I 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC VCX3B 425054 genome.wustl.edu 37 X 8434154 8434154 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 X 8434154 8434154 G C SNP VCX3B ENST00000453306 human ensembl 70_37 +1 known missense c.471 p.E157D 0.012 NULL NULL - no_errors VCX3B HGNC VPRBP 9730 genome.wustl.edu 37 3 51457372 51457372 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 3 51457372 51457372 G A SNP VPRBP ENST00000335891 human ensembl 70_37 -1 known missense c.1705 p.R569C 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC VPS13B 157680 genome.wustl.edu 37 8 100654154 100654154 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 100654154 100654154 G C SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known missense c.5411 p.R1804T 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC WDR75 84128 genome.wustl.edu 37 2 190329969 190329969 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 190329969 190329969 G A SNP WDR75 ENST00000314761 human ensembl 70_37 +1 known silent c.1278 p.K426 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR75 HGNC XIRP2 129446 genome.wustl.edu 37 2 168105466 168105466 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 2 168105466 168105466 C T SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known missense c.7564 p.H2522Y 0.998 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC YOD1 55432 genome.wustl.edu 37 1 207222842 207222842 + Silent SNP T T A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 207222842 207222842 T A SNP YOD1 ENST00000315927 human ensembl 70_37 -1 known silent c.570 p.V190 1.000 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors YOD1 HGNC YWHAZ 7534 genome.wustl.edu 37 8 101960892 101960893 + Frame_Shift_Ins INS - - T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 101960892 101960893 - T INS YWHAZ ENST00000353245 human ensembl 70_37 -1 known frame_shift_ins c.226_225 p.Q75fs 1.000:0.995 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAZ HGNC ZBTB8A 653121 genome.wustl.edu 37 1 33058778 33058778 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 33058778 33058778 C T SNP ZBTB8A ENST00000373510 human ensembl 70_37 +1 known silent c.246 p.F82 0.904 pfam_BTB_POZ,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB8A HGNC ZC3H14 79882 genome.wustl.edu 37 14 89039025 89039025 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 14 89039025 89039025 G A SNP ZC3H14 ENST00000251038 human ensembl 70_37 +1 known missense c.535 p.D179N 1.000 NULL smart_Znf_CCCH - no_errors ZC3H14 HGNC ZDHHC1 29800 genome.wustl.edu 37 16 67432778 67432778 + Silent SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 67432778 67432778 G C SNP ZDHHC1 ENST00000348579 human ensembl 70_37 -1 known silent c.600 p.V200 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC1 HGNC ZFHX3 463 genome.wustl.edu 37 16 72821171 72821171 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 16 72821171 72821171 G A SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known silent c.11004 p.L3668 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ZBTB18 10472 genome.wustl.edu 37 1 244217494 244217494 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 244217494 244217494 G A SNP ZNF238 ENST00000358704 human ensembl 70_37 +1 known missense c.418 p.E140K 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF238 HGNC ZBTB18 10472 genome.wustl.edu 37 1 244217625 244217625 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 1 244217625 244217625 G A SNP ZNF238 ENST00000358704 human ensembl 70_37 +1 known silent c.549 p.R183 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF238 HGNC ZNF252P 286101 genome.wustl.edu 37 8 146202368 146202368 + RNA SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 8 146202368 146202368 G A SNP ZNF252P ENST00000426361 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF252P HGNC ZNF347 84671 genome.wustl.edu 37 19 53645643 53645644 + In_Frame_Ins INS - - TTG TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 53645643 53645644 - TTG INS ZNF347 ENST00000452676 human ensembl 70_37 -1 known in_frame_ins c.441_440 p.R147in_frame_insSK 0.000:0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ZNF398 57541 genome.wustl.edu 37 7 148863947 148863947 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 7 148863947 148863947 C G SNP ZNF398 ENST00000540950 human ensembl 70_37 +1 known missense c.601 p.Q201E 1.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF398 HGNC ZNF442 79973 genome.wustl.edu 37 19 12461533 12461533 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 12461533 12461533 C T SNP ZNF442 ENST00000242804 human ensembl 70_37 -1 known missense c.866 p.G289E 1.000 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 ZNF442 HGNC ZNF511 118472 genome.wustl.edu 37 10 135125334 135125334 + Silent SNP C C A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 135125334 135125334 C A SNP ZNF511 ENST00000368554 human ensembl 70_37 +1 known silent c.474 p.I158 0.012 NULL smart_Znf_C2H2-like - no_errors ZNF511 HGNC ZNF511 118472 genome.wustl.edu 37 10 135125361 135125361 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 10 135125361 135125361 C T SNP ZNF511 ENST00000359035 human ensembl 70_37 +1 known silent c.696 p.L232 0.000 NULL smart_Znf_C2H2-like - no_errors ZNF511 HGNC ZNF521 25925 genome.wustl.edu 37 18 22805425 22805425 + Missense_Mutation SNP A A C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 18 22805425 22805425 A C SNP ZNF521 ENST00000361524 human ensembl 70_37 -1 known missense c.2457 p.H819Q 0.020 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ZNF526 116115 genome.wustl.edu 37 19 42729490 42729490 + Missense_Mutation SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 42729490 42729490 G A SNP ZNF526 ENST00000301215 human ensembl 70_37 +1 known missense c.935 p.R312H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ZNF700 90592 genome.wustl.edu 37 19 12059989 12059989 + Missense_Mutation SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 12059989 12059989 C T SNP ZNF700 ENST00000254321 human ensembl 70_37 +1 known missense c.1150 p.H384Y 0.997 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 ZNF700 HGNC ZNF8 7554 genome.wustl.edu 37 19 58806467 58806467 + Silent SNP G G A TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 58806467 58806467 G A SNP ZNF8 ENST00000196548 human ensembl 70_37 +1 known silent c.1293 p.L431 0.508 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF8 HGNC ZNF846 162993 genome.wustl.edu 37 19 9868423 9868423 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 9868423 9868423 G C SNP ZNF846 ENST00000397902 human ensembl 70_37 -1 known missense c.1330 p.H444D 0.995 pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,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 ZNF91 7644 genome.wustl.edu 37 19 23544483 23544483 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 70fd6f1d-ed8e-4e5c-84b6-70f804ed304a 3382bf29-050b-45a8-93c9-c99354871db7 19 23544483 23544483 G C SNP ZNF91 ENST00000300619 human ensembl 70_37 -1 known missense c.1298 p.P433R 0.689 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