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 AADACL2 344752 genome.wustl.edu 37 3 151458487 151458487 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 151458487 151458487 G A SNP AADACL2 ENST00000356517 human ensembl 70_37 +1 known missense c.192 p.M64I 0.014 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase - no_errors AADACL2 HGNC ABCC3 8714 genome.wustl.edu 37 17 48735556 48735556 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 48735556 48735556 G C SNP ABCC3 ENST00000285238 human ensembl 70_37 +1 known missense c.600 p.K200N 0.001 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ACSBG2 81616 genome.wustl.edu 37 19 6183146 6183146 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 6183146 6183146 C T SNP ACSBG2 ENST00000252669 human ensembl 70_37 +1 known silent c.1185 p.I395 0.955 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG2 HGNC ADCK1 57143 genome.wustl.edu 37 14 78399610 78399610 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 14 78399610 78399610 C G SNP ADCK1 ENST00000238561 human ensembl 70_37 +1 known missense c.1448 p.S483C 0.995 NULL pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC AKAP3 10566 genome.wustl.edu 37 12 4737262 4737262 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 4737262 4737262 C T SNP AKAP3 ENST00000228850 human ensembl 70_37 -1 known missense c.806 p.R269Q 0.001 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC AKAP6 9472 genome.wustl.edu 37 14 33014856 33014856 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 14 33014856 33014856 C G SNP AKAP6 ENST00000280979 human ensembl 70_37 +1 known missense c.997 p.L333V 0.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ALK 238 genome.wustl.edu 37 2 29419650 29419650 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 29419650 29419650 C T SNP ALK ENST00000389048 human ensembl 70_37 -1 known missense c.4150 p.E1384K 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ALPI 248 genome.wustl.edu 37 2 233322739 233322739 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 233322739 233322739 G C SNP ALPI ENST00000295463 human ensembl 70_37 +1 known missense c.888 p.E296D 0.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPI HGNC ALS2CL 259173 genome.wustl.edu 37 3 46716160 46716160 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 46716160 46716160 G A SNP ALS2CL ENST00000318962 human ensembl 70_37 -1 known silent c.2325 p.L775 1.000 NULL pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ANK1 286 genome.wustl.edu 37 8 41554223 41554223 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 41554223 41554223 G C SNP ANK1 ENST00000396942 human ensembl 70_37 -1 known missense c.2706 p.I902M 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9258686 9258686 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 18 9258686 9258686 G A SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known silent c.5421 p.E1807 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ANKRD13B 124930 genome.wustl.edu 37 17 27938969 27938969 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 27938969 27938969 G C SNP ANKRD13B ENST00000394859 human ensembl 70_37 +1 known missense c.1045 p.E349Q 0.999 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13B HGNC ANO2 57101 genome.wustl.edu 37 12 5687152 5687152 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 5687152 5687152 G C SNP ANO2 ENST00000356134 human ensembl 70_37 -1 known missense c.2411 p.S804C 0.997 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC ANP32E 81611 genome.wustl.edu 37 1 150203003 150203003 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 150203003 150203003 G A SNP ANP32E ENST00000314136 human ensembl 70_37 -1 known missense c.230 p.S77F 1.000 NULL pfam_Leu-rich_rpt - no_errors ANP32E HGNC APBA2 321 genome.wustl.edu 37 15 29346279 29346279 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 15 29346279 29346279 C G SNP APBA2 ENST00000558259 human ensembl 70_37 +1 known missense c.192 p.H64Q 0.905 NULL pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA2 HGNC ARFGEF2 10564 genome.wustl.edu 37 20 47587889 47587889 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 20 47587889 47587889 G C SNP ARFGEF2 ENST00000371917 human ensembl 70_37 +1 known missense c.1423 p.E475Q 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ARHGAP31 57514 genome.wustl.edu 37 3 119120821 119120821 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 119120821 119120821 G A SNP ARHGAP31 ENST00000264245 human ensembl 70_37 +1 known missense c.1222 p.E408K 0.456 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ARHGAP35 2909 genome.wustl.edu 37 19 47422775 47422775 + Silent SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 47422775 47422775 G C SNP ARHGAP35 ENST00000404338 human ensembl 70_37 +1 known silent c.843 p.V281 1.000 smart_FF_domain pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ARHGEF9 23229 genome.wustl.edu 37 X 62863882 62863882 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 62863882 62863882 C T SNP ARHGEF9 ENST00000253401 human ensembl 70_37 -1 known silent c.1347 p.V449 1.000 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ASPHD2 57168 genome.wustl.edu 37 22 26830049 26830049 + Silent SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 22 26830049 26830049 C G SNP ASPHD2 ENST00000215906 human ensembl 70_37 +1 known silent c.468 p.L156 1.000 NULL pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD2 HGNC ASTL 431705 genome.wustl.edu 37 2 96803339 96803339 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 96803339 96803339 G C SNP ASTL ENST00000342380 human ensembl 70_37 -1 known missense c.156 p.D52E 0.997 NULL pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ATM 472 genome.wustl.edu 37 11 108123635 108123635 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 108123635 108123635 G A SNP ATM ENST00000278616 human ensembl 70_37 +1 known missense c.1894 p.E632K 0.998 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ATN1 1822 genome.wustl.edu 37 12 7043362 7043362 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 7043362 7043362 G C SNP ATN1 ENST00000356654 human ensembl 70_37 +1 known missense c.51 p.K17N 1.000 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ATP6V1B2 526 genome.wustl.edu 37 8 20055039 20055039 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 20055039 20055039 C G SNP ATP6V1B2 ENST00000276390 human ensembl 70_37 +1 known missense c.122 p.S41C 1.000 NULL pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B2 HGNC B3GALT4 8705 genome.wustl.edu 37 6 33246092 33246092 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 33246092 33246092 G A SNP B3GALT4 ENST00000451237 human ensembl 70_37 +1 known missense c.896 p.R299Q 0.184 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT4 HGNC B3GNT3 10331 genome.wustl.edu 37 19 17919158 17919158 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 17919158 17919158 C G SNP B3GNT3 ENST00000318683 human ensembl 70_37 +1 known missense c.542 p.S181C 0.410 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GNT3 HGNC BDP1 55814 genome.wustl.edu 37 5 70800496 70800496 + Missense_Mutation SNP G G T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 70800496 70800496 G T SNP BDP1 ENST00000358731 human ensembl 70_37 +1 known missense c.2290 p.D764Y 0.037 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC BRSK2 9024 genome.wustl.edu 37 11 1464750 1464750 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 1464750 1464750 G A SNP BRSK2 ENST00000382179 human ensembl 70_37 +1 known missense c.803 p.R268Q 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 BRSK2 HGNC BRWD1 54014 genome.wustl.edu 37 21 40570985 40570985 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 21 40570985 40570985 C T SNP BRWD1 ENST00000333229 human ensembl 70_37 -1 known missense c.5357 p.S1786N 0.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC BRWD3 254065 genome.wustl.edu 37 X 79999553 79999553 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 79999553 79999553 G A SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known missense c.791 p.S264L 1.000 pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom 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 BSPRY 54836 genome.wustl.edu 37 9 116132318 116132318 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 116132318 116132318 G A SNP BSPRY ENST00000374183 human ensembl 70_37 +1 known missense c.1105 p.E369K 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors BSPRY HGNC BTAF1 9044 genome.wustl.edu 37 10 93757460 93757460 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 93757460 93757460 C T SNP BTAF1 ENST00000265990 human ensembl 70_37 +1 known silent c.3612 p.F1204 1.000 superfamily_ARM-type_fold pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC C11orf80 79703 genome.wustl.edu 37 11 66605850 66605850 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 66605850 66605850 G C SNP C11orf80 ENST00000360962 human ensembl 70_37 +1 known missense c.1681 p.E561Q 0.439 NULL NULL - no_errors C11orf80 HGNC C1orf110 339512 genome.wustl.edu 37 1 162824639 162824639 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 162824639 162824639 C G SNP C1orf110 ENST00000367910 human ensembl 70_37 -1 known missense c.825 p.E275D 0.659 NULL NULL - no_errors C1orf110 HGNC TLDC2 140711 genome.wustl.edu 37 20 35515883 35515883 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 20 35515883 35515883 C G SNP C20orf118 ENST00000217320 human ensembl 70_37 +1 known missense c.464 p.S155C 0.908 pfam_TLDc,smart_TLDc pfam_TLDc,smart_TLDc - no_errors C20orf118 HGNC C2orf16 84226 genome.wustl.edu 37 2 27804955 27804955 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 27804955 27804955 G A SNP C2orf16 ENST00000408964 human ensembl 70_37 +1 known missense c.5516 p.R1839H 0.000 NULL NULL - no_errors C2orf16 HGNC CABP4 57010 genome.wustl.edu 37 11 67225845 67225845 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 67225845 67225845 G C SNP CABP4 ENST00000325656 human ensembl 70_37 +1 known missense c.655 p.D219H 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CABP4 HGNC CACNA1B 774 genome.wustl.edu 37 9 140997167 140997167 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 140997167 140997167 C T SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known missense c.5230 p.R1744C 1.000 pfscan_EF_HAND_2 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC CACNA1B 774 genome.wustl.edu 37 9 141010114 141010114 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 141010114 141010114 C T SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known silent c.5763 p.L1921 0.996 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC CACNA1E 777 genome.wustl.edu 37 1 181708285 181708285 + Missense_Mutation SNP G G T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 181708285 181708285 G T SNP CACNA1E ENST00000367573 human ensembl 70_37 +1 known missense c.3615 p.M1205I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC CAMK2N2 94032 genome.wustl.edu 37 3 183977945 183977945 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 183977945 183977945 C T SNP CAMK2N2 ENST00000296238 human ensembl 70_37 -1 known silent c.240 p.*80 1.000 NULL NULL - no_errors CAMK2N2 HGNC CC2D1B 200014 genome.wustl.edu 37 1 52825770 52825770 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 52825770 52825770 G C SNP CC2D1B ENST00000371586 human ensembl 70_37 -1 known missense c.739 p.P247A 0.106 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1B HGNC CCDC108 255101 genome.wustl.edu 37 2 219894307 219894307 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 219894307 219894307 C G SNP CCDC108 ENST00000341552 human ensembl 70_37 -1 known missense c.1468 p.E490Q 0.881 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC CCDC148 130940 genome.wustl.edu 37 2 159166127 159166127 + Nonsense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 159166127 159166127 G A SNP CCDC148 ENST00000283233 human ensembl 70_37 -1 known nonsense c.928 p.Q310* 0.540 NULL NULL - no_errors CCDC148 HGNC CCNT1 904 genome.wustl.edu 37 12 49088062 49088062 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 49088062 49088062 G C SNP CCNT1 ENST00000261900 human ensembl 70_37 -1 known missense c.935 p.S312C 0.967 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC CCR7 1236 genome.wustl.edu 37 17 38711879 38711879 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 38711879 38711879 G C SNP CCR7 ENST00000246657 human ensembl 70_37 -1 known missense c.252 p.I84M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCR11 - no_errors CCR7 HGNC CENPF 1063 genome.wustl.edu 37 1 214816097 214816097 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 214816097 214816097 C T SNP CENPF ENST00000366955 human ensembl 70_37 +1 known silent c.4416 p.L1472 0.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC CHIAP2 149620 genome.wustl.edu 37 1 111824231 111824231 + RNA SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 111824231 111824231 G A SNP CHIAP2 ENST00000369743 human ensembl 70_37 +1 known rna NULL NULL 0.928 - - - no_errors CHIAP2 HGNC CLEC4D 338339 genome.wustl.edu 37 12 8673805 8673805 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 8673805 8673805 G A SNP CLEC4D ENST00000299665 human ensembl 70_37 +1 known missense c.586 p.D196N 0.001 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4D HGNC COL4A6 1288 genome.wustl.edu 37 X 107408146 107408146 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 107408146 107408146 G A SNP COL4A6 ENST00000372216 human ensembl 70_37 -1 known missense c.3934 p.P1312S 0.607 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC COL5A3 50509 genome.wustl.edu 37 19 10112470 10112470 + Missense_Mutation SNP T T C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 10112470 10112470 T C SNP COL5A3 ENST00000264828 human ensembl 70_37 -1 known missense c.937 p.T313A 0.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC COL6A2 1292 genome.wustl.edu 37 21 47545731 47545731 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 21 47545731 47545731 G C SNP COL6A2 ENST00000300527 human ensembl 70_37 +1 known missense c.2002 p.E668Q 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC COL6A6 131873 genome.wustl.edu 37 3 130284200 130284200 + Nonsense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 130284200 130284200 C T SNP COL6A6 ENST00000358511 human ensembl 70_37 +1 known nonsense c.1024 p.R342* 0.606 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC COX4I2 84701 genome.wustl.edu 37 20 30232672 30232672 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 20 30232672 30232672 C T SNP COX4I2 ENST00000376075 human ensembl 70_37 +1 known missense c.481 p.R161C 0.984 pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4 pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4 - no_errors COX4I2 HGNC CPEB4 80315 genome.wustl.edu 37 5 173317425 173317425 + Nonsense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 173317425 173317425 C G SNP CPEB4 ENST00000265085 human ensembl 70_37 +1 known nonsense c.689 p.S230* 0.956 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC CPED1 79974 genome.wustl.edu 37 7 120764400 120764400 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 120764400 120764400 G C SNP CPED1 ENST00000310396 human ensembl 70_37 +1 known missense c.934 p.E312Q 1.000 NULL NULL - no_errors CPED1 HGNC CPNE7 27132 genome.wustl.edu 37 16 89650455 89650455 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 89650455 89650455 C T SNP CPNE7 ENST00000268720 human ensembl 70_37 +1 known missense c.677 p.S226L 1.000 smart_C2_Ca-dep pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A - no_errors CPNE7 HGNC CRLF3 51379 genome.wustl.edu 37 17 29111235 29111235 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 29111235 29111235 G C SNP CRLF3 ENST00000324238 human ensembl 70_37 -1 known missense c.1299 p.F433L 0.992 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF3 HGNC CRYZL1 9946 genome.wustl.edu 37 21 34969645 34969645 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 21 34969645 34969645 C T SNP CRYZL1 ENST00000381554 human ensembl 70_37 -1 known missense c.739 p.D247N 1.000 smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors CRYZL1 HGNC CTAGE1 64693 genome.wustl.edu 37 18 19995686 19995686 + Missense_Mutation SNP A A G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 18 19995686 19995686 A G SNP CTAGE1 ENST00000391403 human ensembl 70_37 -1 known missense c.2089 p.F697L 0.402 NULL NULL - no_errors CTAGE1 HGNC CTAGE5 4253 genome.wustl.edu 37 14 39771449 39771449 + Nonsense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 14 39771449 39771449 C G SNP CTAGE5 ENST00000396158 human ensembl 70_37 +1 known nonsense c.927 p.Y309* 0.046 NULL NULL - no_errors CTAGE5 HGNC CUZD1 50624 genome.wustl.edu 37 10 124596954 124596954 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 124596954 124596954 C G SNP CUZD1 ENST00000368904 human ensembl 70_37 -1 known missense c.565 p.D189H 0.927 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_ZP_dom,pfam_CUB,superfamily_CUB,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_ZP_dom,prints_ZP_dom - no_errors CUZD1 HGNC CXorf65 158830 genome.wustl.edu 37 X 70326096 70326096 + RNA SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 70326096 70326096 G A SNP CXorf65 ENST00000483257 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CXorf65 HGNC CYP20A1 57404 genome.wustl.edu 37 2 204161618 204161618 + Nonsense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 204161618 204161618 C G SNP CYP20A1 ENST00000356079 human ensembl 70_37 +1 known nonsense c.1376 p.S459* 1.000 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV - no_errors CYP20A1 HGNC DARC 2532 genome.wustl.edu 37 1 159175724 159175724 + Silent SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 159175724 159175724 C A SNP DARC ENST00000368121 human ensembl 70_37 +1 known silent c.501 p.L167 0.077 prints_Duffy_chemokine_rcpt prints_Duffy_chemokine_rcpt - no_errors DARC HGNC DCAF12L2 340578 genome.wustl.edu 37 X 125299852 125299852 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 125299852 125299852 C T SNP DCAF12L2 ENST00000360028 human ensembl 70_37 -1 known missense c.56 p.G19E 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC DCLRE1C 64421 genome.wustl.edu 37 10 14995991 14995991 + Nonsense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 14995991 14995991 G A SNP DCLRE1C ENST00000378278 human ensembl 70_37 -1 known nonsense c.19 p.Q7* 0.993 NULL pfam_DRMBL - no_errors DCLRE1C HGNC DENND5A 23258 genome.wustl.edu 37 11 9199895 9199895 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 9199895 9199895 G C SNP DENND5A ENST00000328194 human ensembl 70_37 -1 known missense c.1690 p.Q564E 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5A HGNC DICER1 23405 genome.wustl.edu 37 14 95574809 95574809 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 14 95574809 95574809 C T SNP DICER1 ENST00000343455 human ensembl 70_37 -1 known missense c.2288 p.R763K 0.969 NULL pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DICER1 HGNC DNAAF3 352909 genome.wustl.edu 37 19 55677762 55677762 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 55677762 55677762 G C SNP DNAAF3 ENST00000527223 human ensembl 70_37 -1 known missense c.161 p.S54C 0.582 NULL NULL - no_errors DNAAF3 HGNC DNAI1 27019 genome.wustl.edu 37 9 34500823 34500823 + Silent SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 34500823 34500823 C G SNP DNAI1 ENST00000242317 human ensembl 70_37 +1 known silent c.1005 p.V335 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI1 HGNC DNAI2 64446 genome.wustl.edu 37 17 72285751 72285751 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 72285751 72285751 G C SNP DNAI2 ENST00000311014 human ensembl 70_37 +1 known missense c.486 p.K162N 0.999 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC DNAJB11 51726 genome.wustl.edu 37 3 186303135 186303135 + Missense_Mutation SNP A A G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 186303135 186303135 A G SNP DNAJB11 ENST00000265028 human ensembl 70_37 +1 known missense c.1015 p.I339V 1.000 superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB11 HGNC ECE2 9718 genome.wustl.edu 37 3 183996310 183996310 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 183996310 183996310 C T SNP ECE2 ENST00000402825 human ensembl 70_37 +1 known missense c.1135 p.R379W 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC EHMT2 10919 genome.wustl.edu 37 6 31848475 31848475 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 31848475 31848475 C G SNP EHMT2 ENST00000395728 human ensembl 70_37 -1 known missense c.3598 p.D1200H 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC EIF3A 8661 genome.wustl.edu 37 10 120796821 120796821 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 120796821 120796821 C T SNP EIF3A ENST00000369144 human ensembl 70_37 -1 known silent c.3729 p.R1243 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC EIF3B 8662 genome.wustl.edu 37 7 2412417 2412417 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 2412417 2412417 G A SNP EIF3B ENST00000360876 human ensembl 70_37 +1 known silent c.1797 p.K599 0.999 pfam_TIF2A_beta_prop-like,pirsf_eIF3b pfam_TIF2A_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3b,pfscan_RRM_dom - no_errors EIF3B HGNC EIF3E 3646 genome.wustl.edu 37 8 109226922 109226922 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 109226922 109226922 C T SNP EIF3E ENST00000220849 human ensembl 70_37 -1 known silent c.975 p.L325 1.000 pfam_PCI_dom,pirsf_Transl_init_fac_3_su6_euk pfam_eIF3_su6_N,pfam_PCI_dom,smart_PCI_dom,pirsf_Transl_init_fac_3_su6_euk - no_errors EIF3E HGNC ELAVL3 1995 genome.wustl.edu 37 19 11565683 11565683 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 11565683 11565683 C T SNP ELAVL3 ENST00000359227 human ensembl 70_37 -1 known silent c.762 p.S254 1.000 tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000230303 0 genome.wustl.edu 37 9 88401416 88401416 + RNA SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 88401416 88401416 C G SNP ENSG00000230303 ENST00000418478 human ensembl 70_37 -1 known rna NULL NULL 0.013 - - - no_errors RP11-213G2.2 Clone_based_vega_gene ENSG00000266962 0 genome.wustl.edu 37 17 40705355 40705355 + RNA SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 40705355 40705355 C T SNP ENSG00000266962 ENST00000590513 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-400F19.6 Clone_based_vega_gene ENSG00000266999 0 genome.wustl.edu 37 17 34233677 34233677 + RNA SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 34233677 34233677 C G SNP ENSG00000266999 ENST00000587132 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC015849.16 Clone_based_vega_gene EP300 2033 genome.wustl.edu 37 22 41525927 41525927 + Nonsense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 22 41525927 41525927 C G SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.1202 p.S401* 1.000 pfam_Znf_TAZ,superfamily_Znf_TAZ,smart_Znf_TAZ,pfscan_Znf_TAZ pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ERVW-1 30816 genome.wustl.edu 37 7 92098668 92098668 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 92098668 92098668 G A SNP ERVW-1 ENST00000493463 human ensembl 70_37 -1 known missense c.1028 p.S343F 0.535 pfam_TLV/ENV_coat_polyprotein pfam_TLV/ENV_coat_polyprotein - no_errors ERVW-1 HGNC ESPN 83715 genome.wustl.edu 37 1 6504554 6504554 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 6504554 6504554 G A SNP ESPN ENST00000377828 human ensembl 70_37 +1 known missense c.1004 p.R335H 0.997 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom - no_errors ESPN HGNC EXPH5 23086 genome.wustl.edu 37 11 108384244 108384244 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 108384244 108384244 G A SNP EXPH5 ENST00000265843 human ensembl 70_37 -1 known missense c.1990 p.H664Y 0.000 NULL superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors EXPH5 HGNC FAF2 23197 genome.wustl.edu 37 5 175906255 175906255 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 175906255 175906255 G C SNP FAF2 ENST00000261942 human ensembl 70_37 +1 known missense c.130 p.E44Q 1.000 superfamily_UBA-like pfam_UBX,superfamily_UBA-like,smart_UAS,pfscan_UBX - no_errors FAF2 HGNC FAM111A 63901 genome.wustl.edu 37 11 58920959 58920959 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 58920959 58920959 G A SNP FAM111A ENST00000361723 human ensembl 70_37 +1 known missense c.1818 p.M606I 0.000 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111A HGNC MVB12B 89853 genome.wustl.edu 37 9 129102821 129102821 + Nonsense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 129102821 129102821 C G SNP FAM125B ENST00000361171 human ensembl 70_37 +1 known nonsense c.116 p.S39* 0.995 NULL pfam_FAM125 - no_errors FAM125B HGNC FAM179A 165186 genome.wustl.edu 37 2 29245120 29245120 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 29245120 29245120 C G SNP FAM179A ENST00000379558 human ensembl 70_37 +1 known missense c.1457 p.S486W 0.997 superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC FAM209A 200232 genome.wustl.edu 37 20 55099992 55099992 + Missense_Mutation SNP G G T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 20 55099992 55099992 G T SNP FAM209A ENST00000371328 human ensembl 70_37 +1 known missense c.128 p.R43L 0.966 NULL NULL - no_errors FAM209A HGNC FAM46B 115572 genome.wustl.edu 37 1 27332842 27332842 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 27332842 27332842 G A SNP FAM46B ENST00000289166 human ensembl 70_37 -1 known missense c.871 p.R291W 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46B HGNC FAN1 22909 genome.wustl.edu 37 15 31197287 31197287 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 15 31197287 31197287 G A SNP FAN1 ENST00000362065 human ensembl 70_37 +1 known missense c.421 p.E141K 0.000 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC FANCA 2175 genome.wustl.edu 37 16 89882319 89882319 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 89882319 89882319 C G SNP FANCA ENST00000389301 human ensembl 70_37 -1 known missense c.155 p.R52P 0.488 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC FANCI 55215 genome.wustl.edu 37 15 89825022 89825022 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 15 89825022 89825022 G C SNP FANCI ENST00000310775 human ensembl 70_37 +1 known missense c.1539 p.M513I 1.000 NULL NULL - no_errors FANCI HGNC FAS 355 genome.wustl.edu 37 10 90773980 90773980 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 90773980 90773980 G A SNP FAS ENST00000355740 human ensembl 70_37 +1 known missense c.781 p.E261K 1.000 pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt - no_errors FAS HGNC FGFR3 2261 genome.wustl.edu 37 4 1807849 1807849 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 4 1807849 1807849 C T SNP FGFR3 ENST00000340107 human ensembl 70_37 +1 known silent c.1914 p.F638 0.992 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,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR3 HGNC FKBP9 11328 genome.wustl.edu 37 7 33014871 33014871 + Nonsense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 33014871 33014871 C T SNP FKBP9 ENST00000538336 human ensembl 70_37 +1 known nonsense c.604 p.Q202* 1.000 NULL pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP9 HGNC FNDC1 84624 genome.wustl.edu 37 6 159654069 159654069 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 159654069 159654069 G A SNP FNDC1 ENST00000297267 human ensembl 70_37 +1 known missense c.2525 p.R842Q 0.022 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC FNDC3B 64778 genome.wustl.edu 37 3 171969135 171969135 + Silent SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 171969135 171969135 C A SNP FNDC3B ENST00000336824 human ensembl 70_37 +1 known silent c.594 p.R198 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC FRAS1 80144 genome.wustl.edu 37 4 79420968 79420968 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 4 79420968 79420968 G C SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known missense c.9209 p.R3070T 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC FTMT 94033 genome.wustl.edu 37 5 121187814 121187814 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 121187814 121187814 C T SNP FTMT ENST00000321339 human ensembl 70_37 +1 known silent c.156 p.A52 0.000 NULL pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron - no_errors FTMT HGNC G6PD 2539 genome.wustl.edu 37 X 153763457 153763457 + Silent SNP G G T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 153763457 153763457 G T SNP G6PD ENST00000369620 human ensembl 70_37 -1 known silent c.411 p.L137 1.000 pfam_G6P_DH_NAD-bd,pirsf_G6P_DH pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH - no_errors G6PD HGNC GCNT2 2651 genome.wustl.edu 37 6 10621627 10621627 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 10621627 10621627 C T SNP GCNT2 ENST00000265012 human ensembl 70_37 +1 known silent c.969 p.L323 0.871 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC GIGYF2 26058 genome.wustl.edu 37 2 233709239 233709239 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 233709239 233709239 G A SNP GIGYF2 ENST00000373566 human ensembl 70_37 +1 known missense c.3326 p.G1109E 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC GNA13 10672 genome.wustl.edu 37 17 63010459 63010459 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 63010459 63010459 G C SNP GNA13 ENST00000439174 human ensembl 70_37 -1 known missense c.1050 p.I350M 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha12 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12 - no_errors GNA13 HGNC GPR137C 283554 genome.wustl.edu 37 14 53098933 53098933 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 14 53098933 53098933 C G SNP GPR137C ENST00000321662 human ensembl 70_37 +1 known missense c.773 p.S258C 1.000 NULL NULL - no_errors GPR137C HGNC GRIA1 2890 genome.wustl.edu 37 5 153144153 153144153 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 153144153 153144153 C T SNP GRIA1 ENST00000448073 human ensembl 70_37 +1 known silent c.2013 p.Y671 0.528 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC GRIN3A 116443 genome.wustl.edu 37 9 104499904 104499904 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 104499904 104499904 C T SNP GRIN3A ENST00000361820 human ensembl 70_37 -1 known missense c.358 p.E120K 0.995 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC GRTP1 79774 genome.wustl.edu 37 13 113980315 113980315 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 13 113980315 113980315 C T SNP GRTP1 ENST00000375430 human ensembl 70_37 -1 known silent c.654 p.L218 0.981 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors GRTP1 HGNC HAO1 54363 genome.wustl.edu 37 20 7920973 7920973 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 20 7920973 7920973 C T SNP HAO1 ENST00000378789 human ensembl 70_37 -1 known missense c.97 p.D33N 1.000 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO1 HGNC HECTD1 25831 genome.wustl.edu 37 14 31578721 31578721 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 14 31578721 31578721 C T SNP HECTD1 ENST00000399332 human ensembl 70_37 -1 known missense c.6362 p.G2121E 1.000 NULL pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC HESX1 8820 genome.wustl.edu 37 3 57232436 57232436 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 57232436 57232436 C G SNP HESX1 ENST00000295934 human ensembl 70_37 -1 known missense c.442 p.E148Q 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HESX1 HGNC HOXC5 3222 genome.wustl.edu 37 12 54428255 54428255 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 54428255 54428255 G A SNP HOXC5 ENST00000312492 human ensembl 70_37 +1 known missense c.648 p.M216I 1.000 superfamily_Homeodomain-like,smart_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC5 HGNC HSPG2 3339 genome.wustl.edu 37 1 22168565 22168565 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 22168565 22168565 G A SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known silent c.9123 p.F3041 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC HSPH1 10808 genome.wustl.edu 37 13 31725797 31725797 + Silent SNP T T C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 13 31725797 31725797 T C SNP HSPH1 ENST00000445273 human ensembl 70_37 -1 known silent c.618 p.G206 0.997 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC HUWE1 10075 genome.wustl.edu 37 X 53589843 53589843 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 53589843 53589843 C T SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.7153 p.E2385K 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC IDI2 91734 genome.wustl.edu 37 10 1070526 1070526 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 1070526 1070526 C T SNP IDI2 ENST00000277517 human ensembl 70_37 -1 known silent c.138 p.E46 0.381 superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 - no_errors IDI2 HGNC IGF2BP3 10643 genome.wustl.edu 37 7 23353181 23353181 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 23353181 23353181 G C SNP IGF2BP3 ENST00000258729 human ensembl 70_37 -1 known missense c.1487 p.S496C 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP3 HGNC IGSF21 84966 genome.wustl.edu 37 1 18703404 18703404 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 18703404 18703404 C T SNP IGSF21 ENST00000251296 human ensembl 70_37 +1 known silent c.1212 p.A404 0.171 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors IGSF21 HGNC IKZF2 22807 genome.wustl.edu 37 2 213872482 213872482 + Nonsense_Mutation SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 213872482 213872482 C A SNP IKZF2 ENST00000434687 human ensembl 70_37 -1 known nonsense c.1183 p.E395* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC IL11RA 3590 genome.wustl.edu 37 9 34658549 34658549 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 34658549 34658549 G C SNP IL11RA ENST00000318041 human ensembl 70_37 +1 known missense c.679 p.E227Q 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IL11RA HGNC IL8 3576 genome.wustl.edu 37 4 74607697 74607697 + Missense_Mutation SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 4 74607697 74607697 C A SNP IL8 ENST00000307407 human ensembl 70_37 +1 known missense c.232 p.L78M 1.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC - no_errors IL8 HGNC ILDR2 387597 genome.wustl.edu 37 1 166891971 166891971 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 166891971 166891971 C T SNP ILDR2 ENST00000271417 human ensembl 70_37 -1 known missense c.1070 p.R357K 1.000 NULL pfam_LISCH7,smart_Ig_sub - no_errors ILDR2 HGNC IPMK 253430 genome.wustl.edu 37 10 59976022 59976022 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 59976022 59976022 C T SNP IPMK ENST00000373935 human ensembl 70_37 -1 known missense c.430 p.D144N 1.000 pfam_IPK pfam_IPK - no_errors IPMK HGNC IRF2BP1 26145 genome.wustl.edu 37 19 46388496 46388496 + Silent SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 46388496 46388496 C G SNP IRF2BP1 ENST00000302165 human ensembl 70_37 -1 known silent c.537 p.L179 0.949 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP1 HGNC IWS1 55677 genome.wustl.edu 37 2 128262290 128262290 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 128262290 128262290 G A SNP IWS1 ENST00000295321 human ensembl 70_37 -1 known missense c.1189 p.L397F 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC JPH1 56704 genome.wustl.edu 37 8 75157351 75157351 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 75157351 75157351 C T SNP JPH1 ENST00000342232 human ensembl 70_37 -1 known missense c.1318 p.E440K 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC KCND2 3751 genome.wustl.edu 37 7 119914774 119914774 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 119914774 119914774 C T SNP KCND2 ENST00000331113 human ensembl 70_37 +1 known missense c.88 p.P30S 0.999 pfam_Shal-type,prints_K_chnl_volt-dep_Kv4.2 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC KCND3 3752 genome.wustl.edu 37 1 112329586 112329586 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 112329586 112329586 C G SNP KCND3 ENST00000315987 human ensembl 70_37 -1 known missense c.1249 p.D417H 1.000 prints_K_chnl_volt-dep_Kv4 pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC KDM5A 5927 genome.wustl.edu 37 12 431665 431665 + Nonsense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 431665 431665 G A SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known nonsense c.2344 p.R782* 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 KDM5A HGNC KIAA0355 9710 genome.wustl.edu 37 19 34791603 34791603 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 34791603 34791603 C T SNP KIAA0355 ENST00000299505 human ensembl 70_37 +1 known silent c.225 p.D75 1.000 NULL NULL - no_errors KIAA0355 HGNC KIAA0922 23240 genome.wustl.edu 37 4 154513680 154513680 + Silent SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 4 154513680 154513680 C G SNP KIAA0922 ENST00000409959 human ensembl 70_37 +1 known silent c.1866 p.L622 0.978 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC KIF20B 9585 genome.wustl.edu 37 10 91497810 91497810 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 91497810 91497810 C T SNP KIF20B ENST00000416354 human ensembl 70_37 +1 known missense c.3302 p.S1101F 0.996 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC KIF2C 11004 genome.wustl.edu 37 1 45223226 45223226 + Splice_Site SNP A A C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 45223226 45223226 A C SNP KIF2C ENST00000372224 human ensembl 70_37 +1 known splice_site c.978-2 e11-2 1.000 - - - no_errors KIF2C HGNC KIF5A 3798 genome.wustl.edu 37 12 57975210 57975210 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 57975210 57975210 G A SNP KIF5A ENST00000455537 human ensembl 70_37 +1 known missense c.2768 p.R923Q 1.000 NULL pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC KLHL14 57565 genome.wustl.edu 37 18 30350039 30350039 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 18 30350039 30350039 G A SNP KLHL14 ENST00000359358 human ensembl 70_37 -1 known silent c.516 p.L172 1.000 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 KLHL14 HGNC L3MBTL3 84456 genome.wustl.edu 37 6 130392189 130392189 + Missense_Mutation SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 130392189 130392189 C A SNP L3MBTL3 ENST00000361794 human ensembl 70_37 +1 known missense c.1161 p.F387L 0.999 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC LAMA2 3908 genome.wustl.edu 37 6 129762132 129762132 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 129762132 129762132 C G SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known missense c.6257 p.P2086R 0.999 pfam_Laminin_II pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,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 LAMA2 HGNC LAMA3 3909 genome.wustl.edu 37 18 21492846 21492846 + Splice_Site SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 18 21492846 21492846 G A SNP LAMA3 ENST00000313654 human ensembl 70_37 +1 known splice_site c.7329+1 e56+1 1.000 - - - no_errors LAMA3 HGNC LARP1B 55132 genome.wustl.edu 37 4 129100652 129100652 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 4 129100652 129100652 G C SNP LARP1B ENST00000326639 human ensembl 70_37 +1 known missense c.1988 p.G663A 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1B HGNC LMBR1L 55716 genome.wustl.edu 37 12 49496668 49496668 + Splice_Site SNP A A G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 49496668 49496668 A G SNP LMBR1L ENST00000267102 human ensembl 70_37 -1 known splice_site c.696+2 e8+2 1.000 - - - no_errors LMBR1L HGNC LOC100134368 100134368 genome.wustl.edu 37 16 436837 436837 + RNA SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 436837 436837 G A SNP LOC100134368 ENST00000457760 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors Z97634.5 Clone_based_vega_gene LONRF2 164832 genome.wustl.edu 37 2 100915696 100915696 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 100915696 100915696 G A SNP LONRF2 ENST00000393437 human ensembl 70_37 -1 known silent c.1353 p.L451 0.950 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF2 HGNC LRRC24 441381 genome.wustl.edu 37 8 145748083 145748083 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 145748083 145748083 C T SNP LRRC24 ENST00000529415 human ensembl 70_37 -1 known missense c.1318 p.G440R 0.981 NULL pfam_Ig_I-set,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 LRRC24 HGNC LRRC34 151827 genome.wustl.edu 37 3 169511578 169511578 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 169511578 169511578 C T SNP LRRC34 ENST00000446859 human ensembl 70_37 -1 known missense c.1240 p.D414N 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC34 HGNC LTBP4 8425 genome.wustl.edu 37 19 41133092 41133092 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 41133092 41133092 G C SNP LTBP4 ENST00000308370 human ensembl 70_37 +1 known missense c.4396 p.G1466R 0.524 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 LYST 1130 genome.wustl.edu 37 1 235944340 235944340 + Nonsense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 235944340 235944340 G C SNP LYST ENST00000389793 human ensembl 70_37 -1 known nonsense c.5039 p.S1680* 0.966 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC MAGEA3 4102 genome.wustl.edu 37 X 151935841 151935841 + Missense_Mutation SNP A A T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 151935841 151935841 A T SNP MAGEA3 ENST00000370278 human ensembl 70_37 -1 known missense c.326 p.L109H 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA3 HGNC MAN1A2 10905 genome.wustl.edu 37 1 117911031 117911031 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 117911031 117911031 C T SNP MAN1A2 ENST00000356554 human ensembl 70_37 +1 known missense c.226 p.P76S 1.000 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A2 HGNC MAP3K19 80122 genome.wustl.edu 37 2 135756556 135756556 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 135756556 135756556 G A SNP MAP3K19 ENST00000375845 human ensembl 70_37 -1 known missense c.326 p.S109L 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K19 HGNC MAP7D3 79649 genome.wustl.edu 37 X 135310928 135310928 + RNA SNP T T G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 135310928 135310928 T G SNP MAP7D3 ENST00000495432 human ensembl 70_37 -1 known rna NULL NULL 0.268 - - - no_errors MAP7D3 HGNC MCHR2 84539 genome.wustl.edu 37 6 100390912 100390912 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 100390912 100390912 G A SNP MCHR2 ENST00000281806 human ensembl 70_37 -1 known missense c.500 p.P167L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_MCH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC MED18 54797 genome.wustl.edu 37 1 28661335 28661335 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 28661335 28661335 G A SNP MED18 ENST00000373842 human ensembl 70_37 +1 known missense c.481 p.E161K 1.000 pfam_Mediator_Med18_met/fun pfam_Mediator_Med18_met/fun - no_errors MED18 HGNC METTL2B 55798 genome.wustl.edu 37 7 128138114 128138114 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 128138114 128138114 G A SNP METTL2B ENST00000262432 human ensembl 70_37 +1 known silent c.834 p.L278 0.962 pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd - no_errors METTL2B HGNC MICALL2 79778 genome.wustl.edu 37 7 1479625 1479625 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 1479625 1479625 G A SNP MICALL2 ENST00000297508 human ensembl 70_37 -1 known silent c.1902 p.I634 0.046 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC MIER3 166968 genome.wustl.edu 37 5 56219369 56219369 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 56219369 56219369 C T SNP MIER3 ENST00000381199 human ensembl 70_37 -1 known silent c.1239 p.V413 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER3 HGNC MON2 23041 genome.wustl.edu 37 12 62949938 62949938 + Silent SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 62949938 62949938 C A SNP MON2 ENST00000393630 human ensembl 70_37 +1 known silent c.3378 p.I1126 1.000 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC MOV10L1 54456 genome.wustl.edu 37 22 50564699 50564699 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 22 50564699 50564699 G C SNP MOV10L1 ENST00000262794 human ensembl 70_37 +1 known missense c.1816 p.E606Q 0.990 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC MPZL2 10205 genome.wustl.edu 37 11 118134829 118134829 + Missense_Mutation SNP G G T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 118134829 118134829 G T SNP MPZL2 ENST00000438295 human ensembl 70_37 -1 known missense c.40 p.L14I 0.073 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0 - no_errors MPZL2 HGNC MRPS22 56945 genome.wustl.edu 37 3 139065764 139065764 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 139065764 139065764 G A SNP MRPS22 ENST00000310776 human ensembl 70_37 +1 known missense c.217 p.E73K 1.000 pfam_Ribosomal_S22_mit pfam_Ribosomal_S22_mit - no_errors MRPS22 HGNC MTDH 92140 genome.wustl.edu 37 8 98711993 98711993 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 98711993 98711993 G A SNP MTDH ENST00000336273 human ensembl 70_37 +1 known missense c.1060 p.E354K 1.000 NULL NULL - no_errors MTDH HGNC MUC17 140453 genome.wustl.edu 37 7 100682189 100682189 + Missense_Mutation SNP A A G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 100682189 100682189 A G SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.7492 p.T2498A 0.014 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC MYH14 79784 genome.wustl.edu 37 19 50760689 50760689 + Silent SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 50760689 50760689 C G SNP MYH14 ENST00000262269 human ensembl 70_37 +1 known silent c.2178 p.L726 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC MYH9 4627 genome.wustl.edu 37 22 36684327 36684327 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 22 36684327 36684327 C T SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.4903 p.E1635K 0.998 pfam_Myosin_tail,superfamily_tRNA-bd_arm pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC MYO1F 4542 genome.wustl.edu 37 19 8620554 8620554 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 8620554 8620554 C T SNP MYO1F ENST00000338257 human ensembl 70_37 -1 known missense c.130 p.D44N 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC MYO7B 4648 genome.wustl.edu 37 2 128394377 128394377 + Silent SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 128394377 128394377 C G SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known silent c.6141 p.L2047 0.980 pfscan_FERM_domain 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 MYOCD 93649 genome.wustl.edu 37 17 12666647 12666647 + Missense_Mutation SNP T T G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 12666647 12666647 T G SNP MYOCD ENST00000425538 human ensembl 70_37 +1 known missense c.2647 p.F883V 1.000 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MYOCD HGNC MYOF 26509 genome.wustl.edu 37 10 95088619 95088619 + Nonsense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 95088619 95088619 G A SNP MYOF ENST00000359263 human ensembl 70_37 -1 known nonsense c.5032 p.Q1678* 0.998 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors MYOF HGNC NAA30 122830 genome.wustl.edu 37 14 57876233 57876233 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 14 57876233 57876233 G A SNP NAA30 ENST00000556492 human ensembl 70_37 +1 known silent c.1088 p.*363 1.000 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA30 HGNC NDC80 10403 genome.wustl.edu 37 18 2616481 2616481 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 18 2616481 2616481 G C SNP NDC80 ENST00000261597 human ensembl 70_37 +1 known missense c.1837 p.E613Q 1.000 NULL pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC NDEL1 81565 genome.wustl.edu 37 17 8347562 8347562 + RNA SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 8347562 8347562 C G SNP NDEL1 ENST00000583066 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors NDEL1 HGNC NDST2 8509 genome.wustl.edu 37 10 75567715 75567715 + Silent SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 75567715 75567715 G C SNP NDST2 ENST00000309979 human ensembl 70_37 -1 known silent c.432 p.L144 0.821 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST2 HGNC NEUROD4 58158 genome.wustl.edu 37 12 55421139 55421139 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 55421139 55421139 G A SNP NEUROD4 ENST00000242994 human ensembl 70_37 +1 known missense c.916 p.D306N 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_HLH_dom - no_errors NEUROD4 HGNC NFE2L2 4780 genome.wustl.edu 37 2 178098900 178098900 + Frame_Shift_Del DEL C C - TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 178098900 178098900 C - DEL NFE2L2 ENST00000397062 human ensembl 70_37 -1 known frame_shift_del c.145 p.E49fs 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC NLN 57486 genome.wustl.edu 37 5 65077185 65077185 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 65077185 65077185 G A SNP NLN ENST00000380985 human ensembl 70_37 +1 known silent c.759 p.K253 1.000 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors NLN HGNC NLRP8 126205 genome.wustl.edu 37 19 56477742 56477742 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 56477742 56477742 C T SNP NLRP8 ENST00000291971 human ensembl 70_37 +1 known missense c.2377 p.L793F 0.071 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC NMT1 4836 genome.wustl.edu 37 17 43163889 43163889 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 43163889 43163889 C T SNP NMT1 ENST00000258960 human ensembl 70_37 +1 known missense c.254 p.P85L 1.000 pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT1 HGNC NOL11 25926 genome.wustl.edu 37 17 65717522 65717522 + Nonsense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 65717522 65717522 C G SNP NOL11 ENST00000253247 human ensembl 70_37 +1 known nonsense c.341 p.S114* 0.980 NULL pfam_NUC205 - no_errors NOL11 HGNC NPAP1 23742 genome.wustl.edu 37 15 24922087 24922087 + Missense_Mutation SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 15 24922087 24922087 C A SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known missense c.1073 p.P358H 0.007 NULL NULL - no_errors NPAP1 HGNC NTNG2 84628 genome.wustl.edu 37 9 135042303 135042303 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 135042303 135042303 G C SNP NTNG2 ENST00000360670 human ensembl 70_37 +1 known missense c.85 p.D29H 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC NUMB 8650 genome.wustl.edu 37 14 73749139 73749139 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 14 73749139 73749139 C T SNP NUMB ENST00000355058 human ensembl 70_37 -1 known missense c.1024 p.E342K 1.000 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom - no_errors NUMB HGNC NUP93 9688 genome.wustl.edu 37 16 56864512 56864512 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 56864512 56864512 G A SNP NUP93 ENST00000308159 human ensembl 70_37 +1 known missense c.1000 p.A334T 1.000 pfam_Nucleoporin_int_Nup93/Nic96 pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC NUSAP1 51203 genome.wustl.edu 37 15 41625245 41625245 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 15 41625245 41625245 G A SNP NUSAP1 ENST00000559596 human ensembl 70_37 +1 known silent c.90 p.L30 0.414 NULL NULL - no_errors NUSAP1 HGNC NXF3 56000 genome.wustl.edu 37 X 102337129 102337129 + Missense_Mutation SNP G G T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 102337129 102337129 G T SNP NXF3 ENST00000425463 human ensembl 70_37 -1 known missense c.677 p.P226H 0.001 NULL pfam_Tap_RNA-bd - no_errors NXF3 HGNC OBSCN 84033 genome.wustl.edu 37 1 228487765 228487765 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 228487765 228487765 C G SNP OBSCN ENST00000366707 human ensembl 70_37 +1 known missense c.3727 p.R1243G 0.022 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OLIG3 167826 genome.wustl.edu 37 6 137814879 137814879 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 137814879 137814879 C G SNP OLIG3 ENST00000367734 human ensembl 70_37 -1 known missense c.429 p.E143D 1.000 superfamily_HLH_dom,smart_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors OLIG3 HGNC OR2L2 26246 genome.wustl.edu 37 1 248202316 248202316 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 248202316 248202316 C T SNP OR2L2 ENST00000366479 human ensembl 70_37 +1 known silent c.747 p.F249 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L2 HGNC OR4C15 81309 genome.wustl.edu 37 11 55322251 55322251 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 55322251 55322251 G A SNP OR4C15 ENST00000314644 human ensembl 70_37 +1 known missense c.469 p.E157K 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC OR4K17 390436 genome.wustl.edu 37 14 20585871 20585871 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 14 20585871 20585871 G A SNP OR4K17 ENST00000315543 human ensembl 70_37 +1 known missense c.306 p.M102I 0.301 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 OR4K17 HGNC OR6K6 128371 genome.wustl.edu 37 1 158724677 158724677 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 158724677 158724677 G A SNP OR6K6 ENST00000368144 human ensembl 70_37 +1 known silent c.72 p.Q24 0.977 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC PATZ1 23598 genome.wustl.edu 37 22 31740573 31740573 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 22 31740573 31740573 G C SNP PATZ1 ENST00000266269 human ensembl 70_37 -1 known missense c.1016 p.S339C 0.996 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC PCDHGA12 26025 genome.wustl.edu 37 5 140811189 140811189 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 140811189 140811189 C T SNP PCDHGA12 ENST00000252085 human ensembl 70_37 +1 known missense c.863 p.A288V 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC PCDHGA8 9708 genome.wustl.edu 37 5 140774125 140774125 + Missense_Mutation SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 140774125 140774125 C A SNP PCDHGA8 ENST00000398604 human ensembl 70_37 +1 known missense c.1745 p.A582E 0.998 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC PCYOX1 51449 genome.wustl.edu 37 2 70504273 70504273 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 70504273 70504273 C G SNP PCYOX1 ENST00000433351 human ensembl 70_37 +1 known missense c.1267 p.L423V 0.052 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1 HGNC PELI3 246330 genome.wustl.edu 37 11 66238754 66238754 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 66238754 66238754 G A SNP PELI3 ENST00000320740 human ensembl 70_37 +1 known missense c.266 p.R89Q 0.988 pfam_Pellino pfam_Pellino - no_errors PELI3 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PIK3CA 5290 genome.wustl.edu 37 3 178938934 178938934 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 178938934 178938934 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.2176 p.E726K 1.000 superfamily_Kinase-like_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PLEC 5339 genome.wustl.edu 37 8 144998412 144998412 + Silent SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 144998412 144998412 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known silent c.6096 p.L2032 0.917 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEKHA1 59338 genome.wustl.edu 37 10 124184411 124184411 + Splice_Site SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 124184411 124184411 G A SNP PLEKHA1 ENST00000368990 human ensembl 70_37 +1 known splice_site c.747-1 e9-1 1.000 - - - no_errors PLEKHA1 HGNC PLXNA4 91584 genome.wustl.edu 37 7 131883280 131883280 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 131883280 131883280 C T SNP PLXNA4 ENST00000321063 human ensembl 70_37 -1 known missense c.2702 p.C901Y 1.000 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC POLR3E 55718 genome.wustl.edu 37 16 22337138 22337138 + Nonsense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 22337138 22337138 C T SNP POLR3E ENST00000299853 human ensembl 70_37 +1 known nonsense c.1405 p.Q469* 0.996 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC PPAP2B 8613 genome.wustl.edu 37 1 56990047 56990047 + Missense_Mutation SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 56990047 56990047 C A SNP PPAP2B ENST00000371250 human ensembl 70_37 -1 known missense c.477 p.L159F 0.995 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2B HGNC PPP1R12A 4659 genome.wustl.edu 37 12 80214673 80214673 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 80214673 80214673 G A SNP PPP1R12A ENST00000261207 human ensembl 70_37 -1 known missense c.995 p.S332F 0.988 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC PRDX3 10935 genome.wustl.edu 37 10 120928885 120928885 + RNA SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 120928885 120928885 C G SNP PRDX3 ENST00000494433 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PRDX3 HGNC PREX1 57580 genome.wustl.edu 37 20 47274692 47274692 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 20 47274692 47274692 C G SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known missense c.1956 p.Q652H 0.998 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC PRMT7 54496 genome.wustl.edu 37 16 68390620 68390620 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 68390620 68390620 G A SNP PRMT7 ENST00000339507 human ensembl 70_37 +1 known missense c.1828 p.A610T 0.833 pirsf_Arg_MeTrfase_PRMT7 pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7 - no_errors PRMT7 HGNC PRRC2A 7916 genome.wustl.edu 37 6 31600193 31600193 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 31600193 31600193 C T SNP PRRC2A ENST00000376007 human ensembl 70_37 +1 known missense c.3743 p.A1248V 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC PRX 57716 genome.wustl.edu 37 19 40904465 40904465 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 40904465 40904465 C T SNP PRX ENST00000291825 human ensembl 70_37 -1 known silent c.443 p.*148 0.010 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC PSMB6 5694 genome.wustl.edu 37 17 4701366 4701366 + Silent SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 4701366 4701366 G C SNP PSMB6 ENST00000270586 human ensembl 70_37 +1 known silent c.495 p.G165 1.000 pfam_Proteasome_sua/b,prints_Pept_T1A_subB pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB6 HGNC PTCHD2 57540 genome.wustl.edu 37 1 11561451 11561451 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 11561451 11561451 G A SNP PTCHD2 ENST00000294484 human ensembl 70_37 +1 known silent c.402 p.G134 0.995 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors PTCHD2 HGNC PTK2 5747 genome.wustl.edu 37 8 141874446 141874446 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 141874446 141874446 C T SNP PTK2 ENST00000395218 human ensembl 70_37 -1 known missense c.415 p.E139K 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC PTPN2 5771 genome.wustl.edu 37 18 12830990 12830990 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 18 12830990 12830990 C G SNP PTPN2 ENST00000309660 human ensembl 70_37 -1 known missense c.312 p.Q104H 1.000 pirsf_Tyr_Pase_non-rcpt_typ-1/2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_non-rcpt_typ-1/2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN2 HGNC PTPN4 5775 genome.wustl.edu 37 2 120658344 120658344 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 120658344 120658344 G A SNP PTPN4 ENST00000263708 human ensembl 70_37 +1 known silent c.726 p.L242 1.000 pfam_FERM_PH-like_C,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Ez/rad/moesin,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN4 HGNC PUM1 9698 genome.wustl.edu 37 1 31409541 31409541 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 31409541 31409541 C G SNP PUM1 ENST00000426105 human ensembl 70_37 -1 known missense c.3384 p.Q1128H 1.000 pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC RAB3GAP2 25782 genome.wustl.edu 37 1 220363455 220363455 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 220363455 220363455 G A SNP RAB3GAP2 ENST00000358951 human ensembl 70_37 -1 known silent c.1665 p.H555 1.000 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC RAB3GAP2 25782 genome.wustl.edu 37 1 220369645 220369645 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 220369645 220369645 G C SNP RAB3GAP2 ENST00000358951 human ensembl 70_37 -1 known missense c.907 p.Q303E 1.000 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC RASSF1 11186 genome.wustl.edu 37 3 50369054 50369054 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 50369054 50369054 C G SNP RASSF1 ENST00000357043 human ensembl 70_37 -1 known missense c.708 p.K236N 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors RASSF1 HGNC RBFOX2 23543 genome.wustl.edu 37 22 36155971 36155971 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 22 36155971 36155971 C T SNP RBFOX2 ENST00000438146 human ensembl 70_37 -1 known missense c.1073 p.R358Q 1.000 pfam_Fox-1_C_dom,pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX2 HGNC RCAN3 11123 genome.wustl.edu 37 1 24857861 24857861 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 24857861 24857861 C G SNP RCAN3 ENST00000374395 human ensembl 70_37 +1 known missense c.349 p.L117V 1.000 pfam_Calcipressin pfam_Calcipressin - no_errors RCAN3 HGNC RFC2 5982 genome.wustl.edu 37 7 73646450 73646450 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 73646450 73646450 G C SNP RFC2 ENST00000055077 human ensembl 70_37 -1 known missense c.1051 p.P351A 1.000 NULL pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_Helicase_domain_viral-like,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC2 HGNC RFX1 5989 genome.wustl.edu 37 19 14073987 14073987 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 14073987 14073987 C T SNP RFX1 ENST00000254325 human ensembl 70_37 -1 known missense c.2671 p.E891K 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC RGPD4 285190 genome.wustl.edu 37 2 108487596 108487596 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 108487596 108487596 G C SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known missense c.3136 p.E1046Q 1.000 smart_Ran_bind_dom,pfscan_Ran_bind_dom 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 RHOT2 89941 genome.wustl.edu 37 16 722267 722267 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 722267 722267 G C SNP RHOT2 ENST00000315082 human ensembl 70_37 +1 known missense c.1209 p.K403N 0.998 pirsf_Small_GTPase_Miro,pfam_EF_hand_assoc_1 pirsf_Small_GTPase_Miro,pfam_EF_hand_assoc_2,pfam_MIRO-like,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,pfscan_EF_HAND_2 - no_errors RHOT2 HGNC RNF40 9810 genome.wustl.edu 37 16 30779514 30779514 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 30779514 30779514 G C SNP RNF40 ENST00000324685 human ensembl 70_37 +1 known missense c.1642 p.E548Q 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC RORC 6097 genome.wustl.edu 37 1 151783893 151783893 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 151783893 151783893 C G SNP RORC ENST00000392697 human ensembl 70_37 -1 known missense c.1465 p.E489Q 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORC HGNC RSPH6A 81492 genome.wustl.edu 37 19 46307697 46307697 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 46307697 46307697 G C SNP RSPH6A ENST00000221538 human ensembl 70_37 -1 known missense c.1466 p.S489W 1.000 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC RYR1 6261 genome.wustl.edu 37 19 38991620 38991620 + Nonsense_Mutation SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 38991620 38991620 C A SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known nonsense c.7604 p.S2535* 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC SARS2 54938 genome.wustl.edu 37 19 39408622 39408622 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 39408622 39408622 C T SNP SARS2 ENST00000600042 human ensembl 70_37 -1 known missense c.995 p.R332Q 1.000 pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS2 HGNC SCN2A 6326 genome.wustl.edu 37 2 166245843 166245843 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 166245843 166245843 G A SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known missense c.5527 p.D1843N 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC SDCCAG8 10806 genome.wustl.edu 37 1 243579062 243579062 + Nonsense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 243579062 243579062 C T SNP SDCCAG8 ENST00000366541 human ensembl 70_37 +1 known nonsense c.1675 p.Q559* 1.000 NULL NULL - no_errors SDCCAG8 HGNC SDHA 6389 genome.wustl.edu 37 5 224502 224502 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 224502 224502 C T SNP SDHA ENST00000264932 human ensembl 70_37 +1 known missense c.178 p.H60Y 1.000 tigrfam_Succ_DH_flav_su_fwd pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC SEC24C 9632 genome.wustl.edu 37 10 75525312 75525312 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 10 75525312 75525312 G A SNP SEC24C ENST00000339365 human ensembl 70_37 +1 known missense c.1331 p.R444H 1.000 pfam_Znf_Sec23_Sec24,superfamily_Znf_Sec23_Sec24 pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC SEMA5B 54437 genome.wustl.edu 37 3 122645303 122645303 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 122645303 122645303 C T SNP SEMA5B ENST00000451055 human ensembl 70_37 -1 known missense c.1234 p.E412K 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC SERPINB12 89777 genome.wustl.edu 37 18 61228375 61228376 + Frame_Shift_Ins INS - - A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 18 61228375 61228376 - A INS SERPINB12 ENST00000269491 human ensembl 70_37 +1 known frame_shift_ins c.442_443 p.N150fs 0.524:0.009 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB12 HGNC SGSM3 27352 genome.wustl.edu 37 22 40804696 40804697 + Frame_Shift_Ins INS - - T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 22 40804696 40804697 - T INS SGSM3 ENST00000248929 human ensembl 70_37 +1 known frame_shift_ins c.1848_1849 p.R617fs 0.300:0.997 pfam_Run,pfscan_Run pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM3 HGNC SLC22A1 6580 genome.wustl.edu 37 6 160557675 160557675 + Missense_Mutation SNP T T A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 160557675 160557675 T A SNP SLC22A1 ENST00000366963 human ensembl 70_37 +1 known missense c.1054 p.Y352N 0.998 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A1 HGNC SLC25A23 79085 genome.wustl.edu 37 19 6454376 6454376 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 6454376 6454376 C G SNP SLC25A23 ENST00000264088 human ensembl 70_37 -1 known missense c.894 p.K298N 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A23 HGNC SLC44A2 57153 genome.wustl.edu 37 19 10741983 10741983 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 10741983 10741983 C T SNP SLC44A2 ENST00000335757 human ensembl 70_37 +1 known silent c.363 p.L121 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A2 HGNC SLC45A4 57210 genome.wustl.edu 37 8 142225950 142225950 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 142225950 142225950 C T SNP SLC45A4 ENST00000517878 human ensembl 70_37 -1 known missense c.1849 p.A617T 0.952 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC SLC4A11 83959 genome.wustl.edu 37 20 3210347 3210347 + Nonsense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 20 3210347 3210347 G C SNP SLC4A11 ENST00000380059 human ensembl 70_37 -1 known nonsense c.1694 p.S565* 0.003 pfam_HCO3_transpt_C pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC SLC9C1 285335 genome.wustl.edu 37 3 111886195 111886195 + Splice_Site SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 111886195 111886195 C G SNP SLC9C1 ENST00000305815 human ensembl 70_37 -1 known splice_site c.3238-1 e25-1 0.996 - - - no_errors SLC9C1 HGNC SMARCD3 6604 genome.wustl.edu 37 7 150937513 150937513 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 150937513 150937513 G C SNP SMARCD3 ENST00000262188 human ensembl 70_37 -1 known missense c.1035 p.I345M 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD3 HGNC SMARCE1 6605 genome.wustl.edu 37 17 38788620 38788620 + Splice_Site SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 38788620 38788620 C G SNP SMARCE1 ENST00000348513 human ensembl 70_37 -1 known splice_site c.542-1 e7-1 1.000 - - - no_errors SMARCE1 HGNC SMC1A 8243 genome.wustl.edu 37 X 53430514 53430514 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 53430514 53430514 C T SNP SMC1A ENST00000322213 human ensembl 70_37 -1 known missense c.2404 p.E802K 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC SMG8 55181 genome.wustl.edu 37 17 57290613 57290613 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 57290613 57290613 G C SNP SMG8 ENST00000300917 human ensembl 70_37 +1 known missense c.2429 p.G810A 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC SMYD4 114826 genome.wustl.edu 37 17 1703264 1703264 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 1703264 1703264 G A SNP SMYD4 ENST00000305513 human ensembl 70_37 -1 known missense c.1424 p.A475V 0.032 pfam_SET_dom pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC SMYD4 114826 genome.wustl.edu 37 17 1703353 1703353 + Silent SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 1703353 1703353 G C SNP SMYD4 ENST00000305513 human ensembl 70_37 -1 known silent c.1335 p.L445 0.005 pfam_SET_dom pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC SMYD4 114826 genome.wustl.edu 37 17 1703679 1703679 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 1703679 1703679 G C SNP SMYD4 ENST00000305513 human ensembl 70_37 -1 known missense c.1009 p.L337V 0.001 pfam_SET_dom pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC SNAI3 333929 genome.wustl.edu 37 16 88744857 88744857 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 88744857 88744857 C T SNP SNAI3 ENST00000332281 human ensembl 70_37 -1 known silent c.878 p.*293 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI3 HGNC SNX27 81609 genome.wustl.edu 37 1 151664974 151664974 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 151664974 151664974 G C SNP SNX27 ENST00000368843 human ensembl 70_37 +1 known missense c.1303 p.D435H 1.000 NULL pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX27 HGNC SPERT 220082 genome.wustl.edu 37 13 46288426 46288426 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 13 46288426 46288426 G A SNP SPERT ENST00000310521 human ensembl 70_37 +1 known silent c.1266 p.A422 0.995 NULL NULL - no_errors SPERT HGNC SPOPL 339745 genome.wustl.edu 37 2 139326585 139326585 + Nonsense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 139326585 139326585 C T SNP SPOPL ENST00000280098 human ensembl 70_37 +1 known nonsense c.1114 p.R372* 1.000 NULL pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOPL HGNC SRCAP 10847 genome.wustl.edu 37 16 30724940 30724940 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 30724940 30724940 C G SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.2401 p.R801G 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd 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 2812010 2812010 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 2812010 2812010 G A SNP SRRM2 ENST00000301740 human ensembl 70_37 +1 known missense c.1481 p.R494Q 0.898 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC SRRT 51593 genome.wustl.edu 37 7 100486133 100486133 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 100486133 100486133 G A SNP SRRT ENST00000388793 human ensembl 70_37 +1 known missense c.2591 p.R864Q 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC SSH2 85464 genome.wustl.edu 37 17 27958302 27958302 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 27958302 27958302 C T SNP SSH2 ENST00000269033 human ensembl 70_37 -1 known missense c.3829 p.E1277K 0.017 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC SSH2 85464 genome.wustl.edu 37 17 27977722 27977722 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 27977722 27977722 C T SNP SSH2 ENST00000269033 human ensembl 70_37 -1 known silent c.1095 p.T365 0.053 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC STAT4 6775 genome.wustl.edu 37 2 191931242 191931242 + Splice_Site SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 191931242 191931242 C T SNP STAT4 ENST00000358470 human ensembl 70_37 -1 known splice_site c.545-1 e6-1 1.000 - - - no_errors STAT4 HGNC STX11 8676 genome.wustl.edu 37 6 144508032 144508032 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 144508032 144508032 G A SNP STX11 ENST00000367568 human ensembl 70_37 +1 known missense c.268 p.A90T 1.000 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC STYK1 55359 genome.wustl.edu 37 12 10777320 10777320 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 10777320 10777320 G C SNP STYK1 ENST00000075503 human ensembl 70_37 -1 known missense c.856 p.Q286E 0.004 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STYK1 HGNC SUCO 51430 genome.wustl.edu 37 1 172557994 172557994 + Nonsense_Mutation SNP G G T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 172557994 172557994 G T SNP SUCO ENST00000367723 human ensembl 70_37 +1 known nonsense c.2209 p.E737* 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC TBC1D14 57533 genome.wustl.edu 37 4 6995933 6995933 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 4 6995933 6995933 G A SNP TBC1D14 ENST00000409757 human ensembl 70_37 +1 known missense c.866 p.R289K 0.999 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D14 HGNC TCF20 6942 genome.wustl.edu 37 22 42607402 42607402 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 22 42607402 42607402 G A SNP TCF20 ENST00000359486 human ensembl 70_37 -1 known missense c.3910 p.H1304Y 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC TDRD6 221400 genome.wustl.edu 37 6 46656958 46656958 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 46656958 46656958 G C SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known missense c.1093 p.E365Q 0.998 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC TECPR2 9895 genome.wustl.edu 37 14 102900646 102900646 + Nonsense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 14 102900646 102900646 C T SNP TECPR2 ENST00000359520 human ensembl 70_37 +1 known nonsense c.1492 p.Q498* 0.398 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC TENM4 26011 genome.wustl.edu 37 11 78437208 78437208 + Missense_Mutation SNP T T C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 78437208 78437208 T C SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known missense c.3466 p.T1156A 0.997 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC THOP1 7064 genome.wustl.edu 37 19 2813158 2813158 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 2813158 2813158 G C SNP THOP1 ENST00000307741 human ensembl 70_37 +1 known missense c.1954 p.E652Q 0.001 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors THOP1 HGNC THPO 7066 genome.wustl.edu 37 3 184090793 184090793 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 184090793 184090793 G A SNP THPO ENST00000204615 human ensembl 70_37 -1 known silent c.570 p.L190 0.403 NULL pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin - no_errors THPO HGNC TIGD7 91151 genome.wustl.edu 37 16 3349121 3349121 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 3349121 3349121 C G SNP TIGD7 ENST00000268674 human ensembl 70_37 -1 known missense c.1494 p.Q498H 0.998 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC TIGD7 91151 genome.wustl.edu 37 16 3349384 3349384 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 3349384 3349384 C T SNP TIGD7 ENST00000268674 human ensembl 70_37 -1 known missense c.1231 p.D411N 0.144 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC TIGD7 91151 genome.wustl.edu 37 16 3349549 3349549 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 3349549 3349549 C T SNP TIGD7 ENST00000268674 human ensembl 70_37 -1 known missense c.1066 p.E356K 1.000 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC TMEM132D 121256 genome.wustl.edu 37 12 129566467 129566467 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 129566467 129566467 G A SNP TMEM132D ENST00000422113 human ensembl 70_37 -1 known missense c.1760 p.A587V 0.577 NULL NULL - no_errors TMEM132D HGNC TMEM63B 55362 genome.wustl.edu 37 6 44116376 44116376 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 44116376 44116376 G C SNP TMEM63B ENST00000259746 human ensembl 70_37 +1 known missense c.1248 p.Q416H 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63B HGNC TNFAIP8L1 126282 genome.wustl.edu 37 19 4651990 4651990 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 4651990 4651990 G C SNP TNFAIP8L1 ENST00000327473 human ensembl 70_37 +1 known missense c.109 p.E37Q 1.000 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8L1 HGNC TONSL 4796 genome.wustl.edu 37 8 145657729 145657729 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 145657729 145657729 G A SNP TONSL ENST00000409379 human ensembl 70_37 -1 known missense c.3674 p.S1225F 0.040 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC TP63 8626 genome.wustl.edu 37 3 189586422 189586422 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 189586422 189586422 G C SNP TP63 ENST00000264731 human ensembl 70_37 +1 known missense c.1046 p.G349A 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC TPP2 7174 genome.wustl.edu 37 13 103279418 103279418 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 13 103279418 103279418 G A SNP TPP2 ENST00000376065 human ensembl 70_37 +1 known missense c.841 p.E281K 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC TRAM1 23471 genome.wustl.edu 37 8 71495505 71495505 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 71495505 71495505 G C SNP TRAM1 ENST00000262213 human ensembl 70_37 -1 known missense c.945 p.F315L 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1 HGNC TRIL 9865 genome.wustl.edu 37 7 28997039 28997039 + RNA SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 28997039 28997039 G A SNP TRIL ENST00000322982 human ensembl 70_37 -1 known rna NULL NULL 0.995 - - - no_errors TRIL HGNC TRIM56 81844 genome.wustl.edu 37 7 100730884 100730884 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 100730884 100730884 G A SNP TRIM56 ENST00000306085 human ensembl 70_37 +1 known silent c.291 p.G97 0.023 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC TRIP6 7205 genome.wustl.edu 37 7 100470816 100470816 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 100470816 100470816 C T SNP TRIP6 ENST00000200457 human ensembl 70_37 +1 known missense c.1322 p.S441F 0.984 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TRIP6 HGNC TRMT10C 54931 genome.wustl.edu 37 3 101283864 101283864 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 101283864 101283864 C T SNP TRMT10C ENST00000309922 human ensembl 70_37 +1 known missense c.239 p.S80L 0.000 NULL pfam_tRNA_m1G_MeTrfase - no_errors TRMT10C HGNC TRPM7 54822 genome.wustl.edu 37 15 50886709 50886709 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 15 50886709 50886709 G A SNP TRPM7 ENST00000313478 human ensembl 70_37 -1 known missense c.3392 p.P1131L 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC TRPM7 54822 genome.wustl.edu 37 15 50903387 50903387 + Nonsense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 15 50903387 50903387 G C SNP TRPM7 ENST00000313478 human ensembl 70_37 -1 known nonsense c.2183 p.S728* 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC TRPT1 83707 genome.wustl.edu 37 11 63991404 63991404 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 63991404 63991404 C T SNP TRPT1 ENST00000394546 human ensembl 70_37 -1 known missense c.712 p.E238K 0.300 NULL pfam_Ptrans_KptA/Tpt1 - no_errors TRPT1 HGNC TTC23L 153657 genome.wustl.edu 37 5 34845686 34845686 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 5 34845686 34845686 G C SNP TTC23L ENST00000505624 human ensembl 70_37 +1 known missense c.163 p.E55Q 0.000 NULL NULL - no_errors TTC23L HGNC TTN 7273 genome.wustl.edu 37 2 179425302 179425302 + Silent SNP A A G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 179425302 179425302 A G SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.77853 p.N25951 0.999 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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 179501215 179501215 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 179501215 179501215 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.33535 p.D11179N 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,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 TWISTNB 221830 genome.wustl.edu 37 7 19739762 19739762 + Nonsense_Mutation SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 19739762 19739762 C A SNP TWISTNB ENST00000222567 human ensembl 70_37 -1 known nonsense c.538 p.E180* 1.000 NULL pfam_RNA_pol_Rpb7_N - no_errors TWISTNB HGNC UBE3C 9690 genome.wustl.edu 37 7 157023842 157023842 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 7 157023842 157023842 G C SNP UBE3C ENST00000348165 human ensembl 70_37 +1 known missense c.2302 p.D768H 1.000 superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC UCKL1 54963 genome.wustl.edu 37 20 62577046 62577046 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 20 62577046 62577046 G C SNP UCKL1 ENST00000354216 human ensembl 70_37 -1 known missense c.612 p.I204M 0.998 pfam_PRK/URK,prints_PRK,tigrfam_Uridine_kinase pfam_PRK/URK,pfam_CPT,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC UHRF1BP1 54887 genome.wustl.edu 37 6 34802148 34802148 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 6 34802148 34802148 C T SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known missense c.493 p.R165C 1.000 NULL NULL - no_errors UHRF1BP1 HGNC UNC13A 23025 genome.wustl.edu 37 19 17768894 17768894 + Missense_Mutation SNP C C A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 17768894 17768894 C A SNP UNC13A ENST00000428389 human ensembl 70_37 -1 known missense c.1008 p.E336D 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC UNC13B 10497 genome.wustl.edu 37 9 35377653 35377653 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 35377653 35377653 G C SNP UNC13B ENST00000396787 human ensembl 70_37 +1 known missense c.1813 p.D605H 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC USP37 57695 genome.wustl.edu 37 2 219362850 219362850 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 2 219362850 219362850 C T SNP USP37 ENST00000258399 human ensembl 70_37 -1 known missense c.1056 p.M352I 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19 - no_errors USP37 HGNC VPS13A 23230 genome.wustl.edu 37 9 79936432 79936432 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 79936432 79936432 C T SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.5600 p.S1867F 0.699 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC VPS13B 157680 genome.wustl.edu 37 8 100133458 100133458 + Nonsense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 8 100133458 100133458 C T SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known nonsense c.991 p.Q331* 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC WDR48 57599 genome.wustl.edu 37 3 39125682 39125682 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 39125682 39125682 G A SNP WDR48 ENST00000302313 human ensembl 70_37 +1 known missense c.1210 p.E404K 1.000 pfam_DUF3337 pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR48 HGNC WNK1 65125 genome.wustl.edu 37 12 1017163 1017163 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 12 1017163 1017163 C T SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known missense c.8288 p.S2763L 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC XYLT1 64131 genome.wustl.edu 37 16 17202795 17202795 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 16 17202795 17202795 G A SNP XYLT1 ENST00000261381 human ensembl 70_37 -1 known silent c.2637 p.L879 1.000 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ZBTB37 84614 genome.wustl.edu 37 1 173842618 173842618 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 1 173842618 173842618 G A SNP ZBTB37 ENST00000367701 human ensembl 70_37 +1 known missense c.937 p.G313S 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB37 HGNC ZBTB38 253461 genome.wustl.edu 37 3 141162891 141162891 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 3 141162891 141162891 G A SNP ZBTB38 ENST00000321464 human ensembl 70_37 +1 known missense c.1664 p.G555E 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ZNF157 7712 genome.wustl.edu 37 X 47269681 47269681 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd X 47269681 47269681 G A SNP ZNF157 ENST00000377073 human ensembl 70_37 +1 known missense c.79 p.V27M 0.377 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF157 HGNC ZNF189 7743 genome.wustl.edu 37 9 104171183 104171183 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 9 104171183 104171183 G A SNP ZNF189 ENST00000339664 human ensembl 70_37 +1 known missense c.1133 p.G378E 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF189 HGNC ZNF226 7769 genome.wustl.edu 37 19 44680964 44680964 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 44680964 44680964 C T SNP ZNF226 ENST00000337433 human ensembl 70_37 +1 known missense c.1549 p.H517Y 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF226 HGNC ZNF227 7770 genome.wustl.edu 37 19 44740722 44740722 + Silent SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 44740722 44740722 G A SNP ZNF227 ENST00000313040 human ensembl 70_37 +1 known silent c.2139 p.E713 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 ZNF227 HGNC ZNF329 79673 genome.wustl.edu 37 19 58640056 58640056 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 58640056 58640056 G A SNP ZNF329 ENST00000358067 human ensembl 70_37 -1 known missense c.815 p.S272L 0.991 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ZNF347 84671 genome.wustl.edu 37 19 53644231 53644231 + Missense_Mutation SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 53644231 53644231 C T SNP ZNF347 ENST00000452676 human ensembl 70_37 -1 known missense c.1853 p.R618Q 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ZNF516 9658 genome.wustl.edu 37 18 74092249 74092249 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 18 74092249 74092249 C T SNP ZNF516 ENST00000443185 human ensembl 70_37 -1 known silent c.1821 p.P607 0.062 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ZNF609 23060 genome.wustl.edu 37 15 64791779 64791779 + Nonsense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 15 64791779 64791779 C G SNP ZNF609 ENST00000326648 human ensembl 70_37 +1 known nonsense c.161 p.S54* 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ZNF71 58491 genome.wustl.edu 37 19 57133525 57133525 + Silent SNP C C T TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 57133525 57133525 C T SNP ZNF71 ENST00000328070 human ensembl 70_37 +1 known silent c.870 p.R290 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ZNF750 79755 genome.wustl.edu 37 17 80790328 80790328 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 17 80790328 80790328 C G SNP ZNF750 ENST00000269394 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL NULL - no_errors ZNF750 HGNC ZSCAN18 65982 genome.wustl.edu 37 19 58596539 58596539 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 19 58596539 58596539 G A SNP ZSCAN18 ENST00000600404 human ensembl 70_37 -1 known missense c.1214 p.S405L 0.001 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ZW10 9183 genome.wustl.edu 37 11 113619050 113619050 + Missense_Mutation SNP C C G TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f26c7e5f-b991-454c-81c6-ceadfb6d0270 d41f3de8-9eab-4d20-b390-fd0bce1a1afd 11 113619050 113619050 C G SNP ZW10 ENST00000200135 human ensembl 70_37 -1 known missense c.1018 p.E340Q 0.987 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC