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 ADAM32 203102 genome.wustl.edu 37 8 38965217 38965217 + Silent SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 8 38965217 38965217 C G SNP ADAM32 ENST00000437682 human ensembl 70_37 +1 putative silent c.24 p.P8 0.008 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC AGRN 375790 genome.wustl.edu 37 1 983046 983046 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 983046 983046 G C SNP AGRN ENST00000379370 human ensembl 70_37 +1 known missense c.3610 p.V1204L 1.000 pfam_SEA,smart_SEA,pfscan_SEA pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EG-like_dom,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA - no_errors AGRN HGNC ALDH1A1 216 genome.wustl.edu 37 9 75516138 75516138 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 9 75516138 75516138 G C SNP ALDH1A1 ENST00000297785 human ensembl 70_37 -1 known missense c.1492 p.Q498E 0.992 superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ALPK2 115701 genome.wustl.edu 37 18 56203560 56203560 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 18 56203560 56203560 C T SNP ALPK2 ENST00000361673 human ensembl 70_37 -1 known missense c.3859 p.E1287K 0.002 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK2 HGNC ALS2CR11 151254 genome.wustl.edu 37 2 202483811 202483811 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 202483811 202483811 C G SNP ALS2CR11 ENST00000286195 human ensembl 70_37 -1 known missense c.43 p.D15H 0.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors ALS2CR11 HGNC AMOTL2 51421 genome.wustl.edu 37 3 134077427 134077427 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 3 134077427 134077427 C G SNP AMOTL2 ENST00000249883 human ensembl 70_37 -1 known missense c.2239 p.D747H 0.069 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ANKRD30BL 554226 genome.wustl.edu 37 2 133015216 133015216 + RNA SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 133015216 133015216 C G SNP ANKRD30BL ENST00000470729 human ensembl 70_37 -1 known rna NULL NULL 0.884 - - - no_errors ANKRD30BL HGNC ANKRD31 256006 genome.wustl.edu 37 5 74491918 74491918 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 74491918 74491918 C T SNP ANKRD31 ENST00000274361 human ensembl 70_37 -1 known silent c.555 p.E185 0.354 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 ANKRD31 HGNC ARAP3 64411 genome.wustl.edu 37 5 141035268 141035268 + Nonsense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 141035268 141035268 G A SNP ARAP3 ENST00000239440 human ensembl 70_37 -1 known nonsense c.4030 p.Q1344* 1.000 NULL pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ATP10A 57194 genome.wustl.edu 37 15 25932912 25932912 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 15 25932912 25932912 G A SNP ATP10A ENST00000356865 human ensembl 70_37 -1 known missense c.3229 p.H1077Y 1.000 tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC B4GALT4 8702 genome.wustl.edu 37 3 118945761 118945761 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 3 118945761 118945761 G A SNP B4GALT4 ENST00000359213 human ensembl 70_37 -1 known silent c.381 p.L127 1.000 pfam_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT4 HGNC BORA 79866 genome.wustl.edu 37 13 73312182 73312182 + Splice_Site SNP G G T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 13 73312182 73312182 G T SNP BORA ENST00000390667 human ensembl 70_37 +1 known splice_site c.388+1 e4+1 1.000 - - - no_errors BORA HGNC BTAF1 9044 genome.wustl.edu 37 10 93773678 93773678 + Silent SNP G G T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 10 93773678 93773678 G T SNP BTAF1 ENST00000265990 human ensembl 70_37 +1 known silent c.4476 p.L1492 0.907 pfam_SNF2_N 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 C11orf82 220042 genome.wustl.edu 37 11 82644119 82644119 + Missense_Mutation SNP G G T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 11 82644119 82644119 G T SNP C11orf82 ENST00000430323 human ensembl 70_37 +1 known missense c.1739 p.C580F 0.283 NULL pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold-like - no_errors C11orf82 HGNC C17orf85 55421 genome.wustl.edu 37 17 3716346 3716346 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 3716346 3716346 C T SNP C17orf85 ENST00000389005 human ensembl 70_37 -1 known missense c.1855 p.E619K 1.000 NULL pfam_DUF2414 - no_errors C17orf85 HGNC C1QTNF6 114904 genome.wustl.edu 37 22 37578303 37578303 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 22 37578303 37578303 C T SNP C1QTNF6 ENST00000337843 human ensembl 70_37 -1 known silent c.762 p.E254 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF6 HGNC C1orf173 127254 genome.wustl.edu 37 1 75055435 75055435 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 75055435 75055435 C G SNP C1orf173 ENST00000326665 human ensembl 70_37 -1 known missense c.2056 p.E686Q 0.003 NULL NULL - no_errors C1orf173 HGNC C1orf174 339448 genome.wustl.edu 37 1 3807432 3807432 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 3807432 3807432 C T SNP C1orf174 ENST00000361605 human ensembl 70_37 -1 known missense c.319 p.E107K 0.003 NULL NULL - no_errors C1orf174 HGNC C1orf222 85452 genome.wustl.edu 37 1 1920084 1920084 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 1920084 1920084 C G SNP C1orf222 ENST00000270720 human ensembl 70_37 -1 known missense c.163 p.E55Q 0.001 NULL NULL - no_errors C1orf222 HGNC LINC00862 554279 genome.wustl.edu 37 1 200312409 200312409 + Splice_Site SNP A A T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 200312409 200312409 A T SNP C1orf98 ENST00000367356 human ensembl 70_37 -1 known splice_site c.179+2 e2+2 0.002 - - - no_errors C1orf98 HGNC C2orf27A 29798 genome.wustl.edu 37 2 132491337 132491337 + RNA SNP A A G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 132491337 132491337 A G SNP C2orf27A ENST00000463645 human ensembl 70_37 +1 putative rna NULL NULL 0.101 - - - no_errors C2orf27A HGNC C7orf63 79846 genome.wustl.edu 37 7 89936214 89936214 + Splice_Site SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 7 89936214 89936214 G A SNP C7orf63 ENST00000389297 human ensembl 70_37 +1 known splice_site c.2266-1 e20-1 1.000 - - - no_errors C7orf63 HGNC C9orf84 158401 genome.wustl.edu 37 9 114454375 114454375 + Silent SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 9 114454375 114454375 G C SNP C9orf84 ENST00000318737 human ensembl 70_37 -1 known silent c.3690 p.V1230 1.000 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC CABIN1 23523 genome.wustl.edu 37 22 24487584 24487584 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 22 24487584 24487584 C G SNP CABIN1 ENST00000263119 human ensembl 70_37 +1 known missense c.3573 p.F1191L 0.999 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC CACUL1 143384 genome.wustl.edu 37 10 120513962 120513962 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 10 120513962 120513962 G A SNP CACUL1 ENST00000369151 human ensembl 70_37 -1 known missense c.313 p.P105S 0.736 NULL pfam_Cullin_N,superfamily_Cullin_repeat-like_dom - no_errors CACUL1 HGNC CCDC33 80125 genome.wustl.edu 37 15 74625601 74625601 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 15 74625601 74625601 G C SNP CCDC33 ENST00000321288 human ensembl 70_37 +1 known missense c.2587 p.E863Q 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CCDC33 HGNC CCNB3 85417 genome.wustl.edu 37 X 50052361 50052361 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 X 50052361 50052361 C G SNP CCNB3 ENST00000276014 human ensembl 70_37 +1 known missense c.1192 p.L398V 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC CCP110 9738 genome.wustl.edu 37 16 19553321 19553321 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 16 19553321 19553321 C G SNP CCP110 ENST00000381396 human ensembl 70_37 +1 known missense c.2162 p.S721C 0.426 NULL NULL - no_errors CCP110 HGNC CDH22 64405 genome.wustl.edu 37 20 44869843 44869843 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 20 44869843 44869843 G A SNP CDH22 ENST00000372262 human ensembl 70_37 -1 known silent c.309 p.G103 0.958 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC CDHR3 222256 genome.wustl.edu 37 7 105669022 105669022 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 7 105669022 105669022 C T SNP CDHR3 ENST00000343407 human ensembl 70_37 +1 known missense c.805 p.R269C 0.000 NULL superfamily_Cadherin-like,pfscan_Cadherin - no_errors CDHR3 HGNC CDK12 51755 genome.wustl.edu 37 17 37681036 37681036 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 37681036 37681036 G C SNP CDK12 ENST00000447079 human ensembl 70_37 +1 known missense c.3205 p.E1069Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK12 HGNC CHRNA3 1136 genome.wustl.edu 37 15 78894297 78894297 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 15 78894297 78894297 G A SNP CHRNA3 ENST00000326828 human ensembl 70_37 -1 known silent c.687 p.P229 0.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA3 HGNC CHUK 1147 genome.wustl.edu 37 10 101964375 101964375 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 10 101964375 101964375 C G SNP CHUK ENST00000370397 human ensembl 70_37 -1 known missense c.1395 p.M465I 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,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 CHUK HGNC CLVS1 157807 genome.wustl.edu 37 8 62412295 62412295 + RNA DEL T T - TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 8 62412295 62412295 T - DEL CLVS1 ENST00000518858 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors CLVS1 HGNC COBLL1 22837 genome.wustl.edu 37 2 165550784 165550784 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 165550784 165550784 C G SNP COBLL1 ENST00000194871 human ensembl 70_37 -1 known missense c.3433 p.D1145H 0.578 NULL pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC CREBBP 1387 genome.wustl.edu 37 16 3786798 3786798 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 16 3786798 3786798 G C SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known missense c.4413 p.I1471M 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 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 CREBBP HGNC CSPG4 1464 genome.wustl.edu 37 15 75975192 75975192 + Nonsense_Mutation SNP G G T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 15 75975192 75975192 G T SNP CSPG4 ENST00000308508 human ensembl 70_37 -1 known nonsense c.4640 p.S1547* 0.988 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC CUL4B 8450 genome.wustl.edu 37 X 119678052 119678052 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 X 119678052 119678052 G C SNP CUL4B ENST00000404115 human ensembl 70_37 -1 known missense c.1144 p.Q382E 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC DAPK1 1612 genome.wustl.edu 37 9 90301515 90301515 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 9 90301515 90301515 G A SNP DAPK1 ENST00000469640 human ensembl 70_37 +1 known silent c.2274 p.V758 0.993 NULL pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC DCUN1D4 23142 genome.wustl.edu 37 4 52709416 52709416 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 4 52709416 52709416 C G SNP DCUN1D4 ENST00000334635 human ensembl 70_37 +1 known missense c.8 p.S3W 1.000 NULL pfam_PONY_dom - no_errors DCUN1D4 HGNC DHX38 9785 genome.wustl.edu 37 16 72138925 72138925 + Splice_Site SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 16 72138925 72138925 G C SNP DHX38 ENST00000268482 human ensembl 70_37 +1 known splice_site c.2152-1 e15-1 1.000 - - - no_errors DHX38 HGNC DLC1 10395 genome.wustl.edu 37 8 13356682 13356682 + Nonsense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 8 13356682 13356682 G C SNP DLC1 ENST00000276297 human ensembl 70_37 -1 known nonsense c.899 p.S300* 0.999 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC DMP1 1758 genome.wustl.edu 37 4 88584240 88584240 + Missense_Mutation SNP G G T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 4 88584240 88584240 G T SNP DMP1 ENST00000339673 human ensembl 70_37 +1 known missense c.1310 p.S437I 0.761 pfam_DMP1 pfam_DMP1 - no_errors DMP1 HGNC DNAH6 1768 genome.wustl.edu 37 2 84756046 84756046 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 84756046 84756046 G C SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.418 p.E140Q 0.005 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC DPYSL3 1809 genome.wustl.edu 37 5 146795360 146795360 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 146795360 146795360 C G SNP DPYSL3 ENST00000398514 human ensembl 70_37 -1 known missense c.390 p.K130N 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC DYM 54808 genome.wustl.edu 37 18 46798640 46798640 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 18 46798640 46798640 C T SNP DYM ENST00000269445 human ensembl 70_37 -1 known missense c.1159 p.E387K 1.000 pfam_Dymeclin,superfamily_ARM-type_fold pfam_Dymeclin,superfamily_ARM-type_fold - no_errors DYM HGNC EHD2 30846 genome.wustl.edu 37 19 48244378 48244378 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 19 48244378 48244378 G A SNP EHD2 ENST00000263277 human ensembl 70_37 +1 known missense c.1321 p.E441K 1.000 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD2 HGNC AGO4 192670 genome.wustl.edu 37 1 36307229 36307229 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 36307229 36307229 G C SNP EIF2C4 ENST00000373210 human ensembl 70_37 +1 known missense c.2053 p.E685Q 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C4 HGNC ENSG00000252258 0 genome.wustl.edu 37 18 3025468 3025468 + RNA SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 18 3025468 3025468 G C SNP ENSG00000252258 ENST00000516449 human ensembl 70_37 -1 novel rna NULL NULL 0.657 - - - no_errors SNORA70 RFAM ESRRA 2101 genome.wustl.edu 37 11 64082560 64082560 + Nonsense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 11 64082560 64082560 C G SNP ESRRA ENST00000000442 human ensembl 70_37 +1 known nonsense c.830 p.S277* 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESRRA HGNC FAM124B 79843 genome.wustl.edu 37 2 225244772 225244772 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 225244772 225244772 C G SNP FAM124B ENST00000409685 human ensembl 70_37 -1 known missense c.886 p.E296Q 0.018 NULL NULL - no_errors FAM124B HGNC FAM64A 54478 genome.wustl.edu 37 17 6348471 6348471 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 6348471 6348471 G A SNP FAM64A ENST00000250056 human ensembl 70_37 +1 known missense c.41 p.R14Q 0.004 pfam_DUF1466 pfam_DUF1466 - no_errors FAM64A HGNC FANCB 2187 genome.wustl.edu 37 X 14883161 14883161 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 X 14883161 14883161 C T SNP FANCB ENST00000324138 human ensembl 70_37 -1 known missense c.472 p.G158S 0.001 NULL NULL - no_errors FANCB HGNC FBN2 2201 genome.wustl.edu 37 5 127653955 127653955 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 127653955 127653955 C T SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known missense c.4603 p.E1535K 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN2 HGNC FHOD1 29109 genome.wustl.edu 37 16 67265247 67265247 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 16 67265247 67265247 G A SNP FHOD1 ENST00000258201 human ensembl 70_37 -1 known silent c.2511 p.S837 0.874 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD1 HGNC FLG 2312 genome.wustl.edu 37 1 152277071 152277071 + Nonsense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 152277071 152277071 G A SNP FLG ENST00000368799 human ensembl 70_37 -1 known nonsense c.10291 p.Q3431* 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FLG 2312 genome.wustl.edu 37 1 152277550 152277550 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 152277550 152277550 G C SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.9812 p.S3271C 0.002 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FOS 2353 genome.wustl.edu 37 14 75747739 75747739 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 14 75747739 75747739 C T SNP FOS ENST00000303562 human ensembl 70_37 +1 known missense c.755 p.S252L 0.976 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOS HGNC G3BP2 9908 genome.wustl.edu 37 4 76598498 76598498 + RNA SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 4 76598498 76598498 C G SNP G3BP2 ENST00000502654 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors G3BP2 HGNC GALK1 2584 genome.wustl.edu 37 17 73760097 73760097 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 73760097 73760097 G C SNP GALK1 ENST00000437911 human ensembl 70_37 -1 known missense c.326 p.S109C 0.098 superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,tigrfam_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase - no_errors GALK1 HGNC GEMIN5 25929 genome.wustl.edu 37 5 154278076 154278076 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 154278076 154278076 C G SNP GEMIN5 ENST00000285873 human ensembl 70_37 -1 known missense c.3269 p.R1090T 1.000 NULL 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 GEMIN5 HGNC GOLGA8B 440270 genome.wustl.edu 37 15 34820269 34820269 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 15 34820269 34820269 G A SNP GOLGA8B ENST00000438958 human ensembl 70_37 -1 known missense c.1553 p.A518V 1.000 NULL NULL - no_errors GOLGA8B HGNC GP5 2814 genome.wustl.edu 37 3 194118225 194118225 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 3 194118225 194118225 G C SNP GP5 ENST00000323007 human ensembl 70_37 -1 known missense c.787 p.L263V 0.013 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC GPR123 84435 genome.wustl.edu 37 10 134941990 134941990 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 10 134941990 134941990 C T SNP GPR123 ENST00000392606 human ensembl 70_37 +1 putative missense c.370 p.R124W 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC GPR98 84059 genome.wustl.edu 37 5 89985773 89985773 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 89985773 89985773 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.6586 p.E2196K 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GTF2E1 2960 genome.wustl.edu 37 3 120469678 120469678 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 3 120469678 120469678 C G SNP GTF2E1 ENST00000283875 human ensembl 70_37 +1 known missense c.279 p.F93L 0.997 pfam_TFIIEa/SarR/Rpc3_HTH_dom,smart_TFIIE_asu pfam_TFIIEa/SarR/Rpc3_HTH_dom,pfam_TFIIE_asu_C,pfam_Znf_TFIIB,smart_TFIIE_asu - no_errors GTF2E1 HGNC HELZ2 85441 genome.wustl.edu 37 20 62196884 62196884 + Silent SNP A A G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 20 62196884 62196884 A G SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known silent c.3291 p.T1097 0.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC HSPA9 3313 genome.wustl.edu 37 5 137904654 137904654 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 137904654 137904654 C G SNP HSPA9 ENST00000297185 human ensembl 70_37 -1 known missense c.495 p.Q165H 0.995 pfam_Hsp_70_fam,tigrfam_Chaperone_DnaK pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK - no_errors HSPA9 HGNC HTR3B 9177 genome.wustl.edu 37 11 113815388 113815388 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 11 113815388 113815388 G A SNP HTR3B ENST00000260191 human ensembl 70_37 +1 known missense c.1001 p.G334E 0.179 superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel - no_errors HTR3B HGNC IGSF22 283284 genome.wustl.edu 37 11 18727641 18727641 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 11 18727641 18727641 G A SNP IGSF22 ENST00000513874 human ensembl 70_37 -1 known silent c.3633 p.H1211 0.038 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF22 HGNC IKZF2 22807 genome.wustl.edu 37 2 213886824 213886824 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 213886824 213886824 C G SNP IKZF2 ENST00000434687 human ensembl 70_37 -1 known missense c.605 p.G202A 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC IL1R2 7850 genome.wustl.edu 37 2 102642604 102642604 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 102642604 102642604 G A SNP IL1R2 ENST00000332549 human ensembl 70_37 +1 known missense c.919 p.E307K 0.999 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like,prints_Interleukin-1_rcpt_II pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II,prints_IL1_rcpt_I/II - no_errors IL1R2 HGNC INPP5D 3635 genome.wustl.edu 37 2 233998699 233998699 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 233998699 233998699 G A SNP INPP5D ENST00000359570 human ensembl 70_37 +1 known silent c.675 p.L225 0.039 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ITGA2B 3674 genome.wustl.edu 37 17 42463033 42463033 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 42463033 42463033 C G SNP ITGA2B ENST00000262407 human ensembl 70_37 -1 known missense c.460 p.E154Q 0.807 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC KIR3DS1 3813 genome.wustl.edu 37 GL000209.1 58495 58495 + Missense_Mutation SNP C C A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 GL000209.1 58495 58495 C A SNP KIR3DS1 ENST00000400851 human ensembl 70_37 +1 known missense c.176 p.T59K NULL pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DS1 HGNC KLKB1 3818 genome.wustl.edu 37 4 187153292 187153292 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 4 187153292 187153292 C G SNP KLKB1 ENST00000264690 human ensembl 70_37 +1 known missense c.70 p.Q24E 0.516 pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,smart_Apple,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Peptidase_S1_S6,prints_Apple,prints_Peptidase_S1A - no_errors KLKB1 HGNC KRT42P 284116 genome.wustl.edu 37 17 39785217 39785217 + RNA SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 39785217 39785217 C G SNP KRT42P ENST00000438131 human ensembl 70_37 -1 known rna NULL NULL 0.311 - - - no_errors KRT42P HGNC LARP4B 23185 genome.wustl.edu 37 10 890928 890928 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 10 890928 890928 G A SNP LARP4B ENST00000316157 human ensembl 70_37 -1 known silent c.498 p.F166 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC LAS1L 81887 genome.wustl.edu 37 X 64741096 64741096 + RNA SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 X 64741096 64741096 G C SNP LAS1L ENST00000484069 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LAS1L HGNC LDB1 8861 genome.wustl.edu 37 10 103870840 103870840 + Nonsense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 10 103870840 103870840 G A SNP LDB1 ENST00000425280 human ensembl 70_37 -1 known nonsense c.235 p.Q79* 1.000 NULL NULL - no_errors LDB1 HGNC LHFPL2 10184 genome.wustl.edu 37 5 77784642 77784642 + RNA SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 77784642 77784642 C G SNP LHFPL2 ENST00000502722 human ensembl 70_37 -1 putative rna NULL NULL 0.002 - - - no_errors LHFPL2 HGNC LOC100499227 100499227 genome.wustl.edu 37 11 119369518 119369518 + RNA SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 11 119369518 119369518 G C SNP LOC100499227 ENST00000498979 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-305N23.1 Clone_based_vega_gene LOC729218 729218 genome.wustl.edu 37 4 119554781 119554781 + RNA SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 4 119554781 119554781 C T SNP LOC729218 ENST00000567913 human ensembl 70_37 +1 known rna NULL NULL 0.588 - - - no_errors RP11-384K6.6 Clone_based_vega_gene LOC81691 81691 genome.wustl.edu 37 16 20838394 20838394 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 16 20838394 20838394 C T SNP LOC81691 ENST00000261377 human ensembl 70_37 +1 known missense c.836 p.T279M 0.997 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,pfam_RRM_dom,superfamily_RNaseH-like_dom,smart_Exonuclease,smart_RRM_dom,pfscan_RRM_dom - no_errors AC004381.6 Clone_based_vega_gene LRP2 4036 genome.wustl.edu 37 2 170044576 170044576 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 170044576 170044576 G C SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.9232 p.H3078D 0.998 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC LRRC4 64101 genome.wustl.edu 37 7 127669932 127669932 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 7 127669932 127669932 G A SNP LRRC4 ENST00000249363 human ensembl 70_37 -1 known silent c.762 p.V254 0.995 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-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 LRRC4 HGNC LRRK2 120892 genome.wustl.edu 37 12 40717102 40717102 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 12 40717102 40717102 C T SNP LRRK2 ENST00000298910 human ensembl 70_37 +1 known missense c.5650 p.L1884F 1.000 superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC LRRN2 10446 genome.wustl.edu 37 1 204587429 204587429 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 204587429 204587429 G A SNP LRRN2 ENST00000367175 human ensembl 70_37 -1 known silent c.1692 p.L564 0.913 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRN2 HGNC MBTD1 54799 genome.wustl.edu 37 17 49281154 49281154 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 49281154 49281154 C G SNP MBTD1 ENST00000415868 human ensembl 70_37 -1 known missense c.737 p.R246T 1.000 pfam_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors MBTD1 HGNC MCM9 254394 genome.wustl.edu 37 6 119136454 119136454 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 6 119136454 119136454 C T SNP MCM9 ENST00000316316 human ensembl 70_37 -1 known missense c.2965 p.E989K 0.000 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM9 HGNC MERTK 10461 genome.wustl.edu 37 2 112786126 112786126 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 112786126 112786126 G C SNP MERTK ENST00000295408 human ensembl 70_37 +1 known missense c.2685 p.L895F 0.968 superfamily_Rhodanese-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC MEX3B 84206 genome.wustl.edu 37 15 82336662 82336662 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 15 82336662 82336662 G C SNP MEX3B ENST00000329713 human ensembl 70_37 -1 known missense c.549 p.I183M 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC MICA 100507436 genome.wustl.edu 37 6 31378883 31378883 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 6 31378883 31378883 G C SNP MICA ENST00000364810 human ensembl 70_37 +1 known missense c.360 p.E120D 0.044 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors MICA HGNC MMP1 4312 genome.wustl.edu 37 11 102667841 102667841 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 11 102667841 102667841 C G SNP MMP1 ENST00000315274 human ensembl 70_37 -1 known missense c.403 p.E135Q 0.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP1 HGNC MTOR 2475 genome.wustl.edu 37 1 11217277 11217277 + Missense_Mutation SNP C C A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 11217277 11217277 C A SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.4401 p.M1467I 1.000 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC MYB 4602 genome.wustl.edu 37 6 135539487 135539487 + RNA SNP A A G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 6 135539487 135539487 A G SNP MYB ENST00000531845 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MYB HGNC NACAP1 83955 genome.wustl.edu 37 8 102381883 102381883 + RNA DEL A A - TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 8 102381883 102381883 A - DEL NACAP1 ENST00000419462 human ensembl 70_37 +1 known rna NULL NULL 0.879 - - - no_errors NACAP1 HGNC NEFH 4744 genome.wustl.edu 37 22 29879485 29879485 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 22 29879485 29879485 G A SNP NEFH ENST00000310624 human ensembl 70_37 +1 known silent c.1005 p.L335 0.993 pfam_F pfam_F,pfam_DUF1388 - no_errors NEFH HGNC NFX1 4799 genome.wustl.edu 37 9 33366761 33366761 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 9 33366761 33366761 C T SNP NFX1 ENST00000379540 human ensembl 70_37 +1 known silent c.3174 p.V1058 1.000 pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd - no_errors NFX1 HGNC NLRX1 79671 genome.wustl.edu 37 11 119050625 119050625 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 11 119050625 119050625 C G SNP NLRX1 ENST00000292199 human ensembl 70_37 +1 known missense c.1895 p.S632C 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC NTMT1 28989 genome.wustl.edu 37 9 132395004 132395004 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 9 132395004 132395004 G C SNP NTMT1 ENST00000372480 human ensembl 70_37 +1 known missense c.22 p.D8H 0.990 pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik - no_errors NTMT1 HGNC NUP160 23279 genome.wustl.edu 37 11 47858549 47858549 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 11 47858549 47858549 C T SNP NUP160 ENST00000378460 human ensembl 70_37 -1 known missense c.832 p.D278N 1.000 pfam_Nucleoporin_Nup160 pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ODAM 54959 genome.wustl.edu 37 4 71063015 71063015 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 4 71063015 71063015 C G SNP ODAM ENST00000396094 human ensembl 70_37 +1 known missense c.118 p.Q40E 0.451 NULL NULL - no_errors ODAM HGNC OGFOD3 79701 genome.wustl.edu 37 17 80352367 80352367 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 80352367 80352367 C T SNP OGFOD3 ENST00000329197 human ensembl 70_37 -1 known silent c.876 p.P292 0.007 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors OGFOD3 HGNC OTUD1 220213 genome.wustl.edu 37 10 23729371 23729371 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 10 23729371 23729371 G A SNP OTUD1 ENST00000376495 human ensembl 70_37 +1 known missense c.985 p.V329M 0.997 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors OTUD1 HGNC PARL 55486 genome.wustl.edu 37 3 183585786 183585786 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 3 183585786 183585786 C T SNP PARL ENST00000317096 human ensembl 70_37 -1 known missense c.188 p.R63Q 1.000 NULL pfam_Peptidase_S54_rhomboid_dom - no_errors PARL HGNC PARP1 142 genome.wustl.edu 37 1 226551836 226551836 + RNA SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 226551836 226551836 G A SNP PARP1 ENST00000463968 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PARP1 HGNC PCDHA1 56147 genome.wustl.edu 37 5 140167072 140167072 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 140167072 140167072 C T SNP PCDHA1 ENST00000504120 human ensembl 70_37 +1 known silent c.1197 p.S399 0.945 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC PCP2 126006 genome.wustl.edu 37 19 7696665 7696665 + Silent SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 19 7696665 7696665 G C SNP PCP2 ENST00000311069 human ensembl 70_37 -1 known silent c.321 p.L107 1.000 NULL pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors PCP2 HGNC PDCD4 27250 genome.wustl.edu 37 10 112642770 112642770 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 10 112642770 112642770 G C SNP PDCD4 ENST00000280154 human ensembl 70_37 +1 known missense c.356 p.G119A 1.000 NULL pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI - no_errors PDCD4 HGNC PDE8A 5151 genome.wustl.edu 37 15 85669515 85669515 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 15 85669515 85669515 G A SNP PDE8A ENST00000310298 human ensembl 70_37 +1 known silent c.2163 p.L721 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8A HGNC PEPD 5184 genome.wustl.edu 37 19 33904546 33904546 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 19 33904546 33904546 G A SNP PEPD ENST00000244137 human ensembl 70_37 -1 known silent c.675 p.L225 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors PEPD HGNC PHTF2 57157 genome.wustl.edu 37 7 77538189 77538189 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 7 77538189 77538189 G A SNP PHTF2 ENST00000248550 human ensembl 70_37 +1 known silent c.525 p.L175 0.996 pfam_TF_homeodomain_male pfam_TF_homeodomain_male - no_errors PHTF2 HGNC PI4KAP2 375133 genome.wustl.edu 37 22 21834057 21834057 + RNA SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 22 21834057 21834057 C G SNP PI4KAP2 ENST00000450651 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PI4KAP2 HGNC PLOD3 8985 genome.wustl.edu 37 7 100853820 100853820 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 7 100853820 100853820 C T SNP PLOD3 ENST00000223127 human ensembl 70_37 -1 known missense c.1493 p.R498Q 0.659 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC PNLDC1 154197 genome.wustl.edu 37 6 160222178 160222178 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 6 160222178 160222178 G C SNP PNLDC1 ENST00000275275 human ensembl 70_37 +1 known missense c.135 p.K45N 0.994 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC PNMAL1 55228 genome.wustl.edu 37 19 46974175 46974175 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 19 46974175 46974175 C G SNP PNMAL1 ENST00000313683 human ensembl 70_37 -1 known missense c.118 p.E40Q 0.944 NULL NULL - no_errors PNMAL1 HGNC PSMC3 5702 genome.wustl.edu 37 11 47447758 47447758 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 11 47447758 47447758 C T SNP PSMC3 ENST00000298852 human ensembl 70_37 -1 known missense c.73 p.E25K 0.990 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC3 HGNC RAB11FIP4 84440 genome.wustl.edu 37 17 29857424 29857424 + Silent SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 29857424 29857424 C G SNP RAB11FIP4 ENST00000325874 human ensembl 70_37 +1 known silent c.1734 p.L578 1.000 NULL pfam_Rab-bd_FIP-RBD,pfscan_EF_HAND_2 - no_errors RAB11FIP4 HGNC RAB17 64284 genome.wustl.edu 37 2 238494054 238494054 + RNA SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 238494054 238494054 G A SNP RAB17 ENST00000416106 human ensembl 70_37 -1 putative rna NULL NULL 0.002 - - - no_errors RAB17 HGNC RALGAPB 57148 genome.wustl.edu 37 20 37182681 37182681 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 20 37182681 37182681 C G SNP RALGAPB ENST00000262879 human ensembl 70_37 +1 known missense c.3334 p.L1112V 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPB HGNC ROR2 4920 genome.wustl.edu 37 9 94519831 94519831 + Silent SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 9 94519831 94519831 C G SNP ROR2 ENST00000375708 human ensembl 70_37 -1 known silent c.186 p.L62 1.000 pirsf_Tyr_kinase_rcpt_ROR,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROR2 HGNC RRAD 6236 genome.wustl.edu 37 16 66956094 66956094 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 16 66956094 66956094 C T SNP RRAD ENST00000299759 human ensembl 70_37 -1 known missense c.812 p.R271Q 1.000 pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RRAD HGNC RTL1 388015 genome.wustl.edu 37 14 101348765 101348765 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 14 101348765 101348765 C T SNP RTL1 ENST00000534062 human ensembl 70_37 -1 known silent c.2361 p.V787 0.058 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC SCN7A 6332 genome.wustl.edu 37 2 167289236 167289236 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 167289236 167289236 C T SNP SCN7A ENST00000424326 human ensembl 70_37 -1 known missense c.2278 p.E760K 0.999 NULL pfam_Ion_trans_dom - no_errors SCN7A HGNC SCRT1 83482 genome.wustl.edu 37 8 145556955 145556955 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 8 145556955 145556955 G C SNP SCRT1 ENST00000332135 human ensembl 70_37 -1 known missense c.939 p.F313L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SCRT1 HGNC SHMT2 6472 genome.wustl.edu 37 12 57628084 57628084 + Silent SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 12 57628084 57628084 C G SNP SHMT2 ENST00000328923 human ensembl 70_37 +1 known silent c.1455 p.L485 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase - no_errors SHMT2 HGNC SIRT5 23408 genome.wustl.edu 37 6 13595753 13595753 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 6 13595753 13595753 G C SNP SIRT5 ENST00000379250 human ensembl 70_37 +1 known missense c.520 p.E174Q 0.988 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT5 HGNC SKAP2 8935 genome.wustl.edu 37 7 26883654 26883654 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 7 26883654 26883654 G A SNP SKAP2 ENST00000345317 human ensembl 70_37 -1 known missense c.302 p.S101F 0.996 NULL pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain - no_errors SKAP2 HGNC SLC25A33 84275 genome.wustl.edu 37 1 9630370 9630370 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 9630370 9630370 C T SNP SLC25A33 ENST00000302692 human ensembl 70_37 +1 known silent c.369 p.F123 0.992 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A33 HGNC SLC28A3 64078 genome.wustl.edu 37 9 86900261 86900261 + Nonsense_Mutation SNP G G T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 9 86900261 86900261 G T SNP SLC28A3 ENST00000376238 human ensembl 70_37 -1 known nonsense c.1646 p.S549* 0.997 pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A3 HGNC SLC35F1 222553 genome.wustl.edu 37 6 118606347 118606347 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 6 118606347 118606347 G A SNP SLC35F1 ENST00000360388 human ensembl 70_37 +1 known missense c.848 p.G283E 0.998 pfam_DUF914_euk,pfam_DMT pfam_DUF914_euk,pfam_DMT - no_errors SLC35F1 HGNC SLC6A17 388662 genome.wustl.edu 37 1 110734776 110734776 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 110734776 110734776 C T SNP SLC6A17 ENST00000331565 human ensembl 70_37 +1 known silent c.1047 p.L349 0.983 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC SLCO2A1 6578 genome.wustl.edu 37 3 133698338 133698338 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 3 133698338 133698338 G C SNP SLCO2A1 ENST00000310926 human ensembl 70_37 -1 known missense c.221 p.S74C 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC SMARCD1 6602 genome.wustl.edu 37 12 50484356 50484356 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 12 50484356 50484356 C T SNP SMARCD1 ENST00000394963 human ensembl 70_37 +1 known silent c.1116 p.I372 1.000 superfamily_SWIB_MDM2_domain pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD1 HGNC SP2 6668 genome.wustl.edu 37 17 45993695 45993695 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 45993695 45993695 C G SNP SP2 ENST00000376741 human ensembl 70_37 +1 known missense c.258 p.I86M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC SP2 6668 genome.wustl.edu 37 17 45993703 45993703 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 45993703 45993703 C T SNP SP2 ENST00000376741 human ensembl 70_37 +1 known missense c.266 p.S89F 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC SRGAP1 57522 genome.wustl.edu 37 12 64536255 64536255 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 12 64536255 64536255 G A SNP SRGAP1 ENST00000355086 human ensembl 70_37 +1 known missense c.3061 p.E1021K 1.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC SRGAP3 9901 genome.wustl.edu 37 3 9057375 9057375 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 3 9057375 9057375 G C SNP SRGAP3 ENST00000383836 human ensembl 70_37 -1 known missense c.1719 p.I573M 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC SSR2 6746 genome.wustl.edu 37 1 155979343 155979343 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 155979343 155979343 C T SNP SSR2 ENST00000295702 human ensembl 70_37 -1 known silent c.540 p.T180 0.819 pirsf_TRAP_beta pfam_TRAP_beta,pirsf_TRAP_beta - no_errors SSR2 HGNC STAMBPL1 57559 genome.wustl.edu 37 10 90668531 90668531 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 10 90668531 90668531 G C SNP STAMBPL1 ENST00000371927 human ensembl 70_37 +1 known missense c.321 p.M107I 0.996 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors STAMBPL1 HGNC SUPT16H 11198 genome.wustl.edu 37 14 21829300 21829300 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 14 21829300 21829300 G A SNP SUPT16H ENST00000216297 human ensembl 70_37 -1 known silent c.1866 p.F622 0.994 pfam_FACT_Spt16p pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC TAP2 6891 genome.wustl.edu 37 6 32805352 32805352 + Silent SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 6 32805352 32805352 G C SNP TAP2 ENST00000374897 human ensembl 70_37 -1 known silent c.570 p.A190 0.639 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_ABC_B3,tigrfam_Ag_transporter2 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,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC TBC1D10B 26000 genome.wustl.edu 37 16 30371123 30371123 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 16 30371123 30371123 G C SNP TBC1D10B ENST00000409939 human ensembl 70_37 -1 known missense c.1311 p.I437M 1.000 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 TBC1D10B HGNC TENM2 57451 genome.wustl.edu 37 5 167626875 167626875 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 167626875 167626875 C T SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known missense c.3169 p.H1057Y 1.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC TMED5 50999 genome.wustl.edu 37 1 93620280 93620280 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 93620280 93620280 G C SNP TMED5 ENST00000370282 human ensembl 70_37 -1 known missense c.637 p.Q213E 1.000 pfam_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED5 HGNC TRIO 7204 genome.wustl.edu 37 5 14485296 14485296 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 14485296 14485296 G A SNP TRIO ENST00000344204 human ensembl 70_37 +1 known missense c.6776 p.R2259Q 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC TROAP 10024 genome.wustl.edu 37 12 49719924 49719924 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 12 49719924 49719924 G C SNP TROAP ENST00000257909 human ensembl 70_37 +1 known missense c.699 p.E233D 0.999 NULL NULL - no_errors TROAP HGNC TSR1 55720 genome.wustl.edu 37 17 2236281 2236281 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 17 2236281 2236281 C T SNP TSR1 ENST00000301364 human ensembl 70_37 -1 known missense c.1279 p.E427K 0.998 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_elong_init/rib_B-barrel,smart_AARP2CN - no_errors TSR1 HGNC UBXN1 51035 genome.wustl.edu 37 11 62444225 62444225 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 11 62444225 62444225 C T SNP UBXN1 ENST00000294119 human ensembl 70_37 -1 known missense c.904 p.G302R 0.032 NULL pfam_UBX,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_UBX,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_UBX - no_errors UBXN1 HGNC UPF1 5976 genome.wustl.edu 37 19 18976135 18976135 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 19 18976135 18976135 G C SNP UPF1 ENST00000599848 human ensembl 70_37 +1 known missense c.2928 p.Q976H 1.000 NULL pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom - no_errors UPF1 HGNC VPS13B 157680 genome.wustl.edu 37 8 100523624 100523624 + Missense_Mutation SNP G G T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 8 100523624 100523624 G T SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known missense c.4592 p.G1531V 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC WDR87 83889 genome.wustl.edu 37 19 38380730 38380730 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 19 38380730 38380730 G A SNP WDR87 ENST00000447313 human ensembl 70_37 -1 known missense c.3581 p.S1194F 0.001 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC XKRX 402415 genome.wustl.edu 37 X 100177950 100177950 + Missense_Mutation SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 X 100177950 100177950 C T SNP XKRX ENST00000328526 human ensembl 70_37 -1 known missense c.475 p.E159K 0.319 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKRX HGNC ZAN 7455 genome.wustl.edu 37 7 100389622 100389622 + Nonsense_Mutation SNP G G T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 7 100389622 100389622 G T SNP ZAN ENST00000546292 human ensembl 70_37 +1 known nonsense c.7561 p.E2521* 0.000 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ZBTB10 65986 genome.wustl.edu 37 8 81399769 81399769 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 8 81399769 81399769 C G SNP ZBTB10 ENST00000426744 human ensembl 70_37 +1 known missense c.724 p.L242V 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB10 HGNC ZC3H11A 9877 genome.wustl.edu 37 1 203797541 203797541 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 1 203797541 203797541 C G SNP ZC3H11A ENST00000332127 human ensembl 70_37 +1 known missense c.289 p.P97A 1.000 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ZC3H15 55854 genome.wustl.edu 37 2 187373329 187373329 + Nonsense_Mutation SNP G G T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 187373329 187373329 G T SNP ZC3H15 ENST00000337859 human ensembl 70_37 +1 known nonsense c.1150 p.E384* 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H15 HGNC ZEB2 9839 genome.wustl.edu 37 2 145157221 145157221 + Silent SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 2 145157221 145157221 G A SNP ZEB2 ENST00000303660 human ensembl 70_37 -1 known silent c.1533 p.V511 0.888 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ZFHX4 79776 genome.wustl.edu 37 8 77768238 77768238 + Silent SNP C C T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 8 77768238 77768238 C T SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known silent c.9081 p.F3027 1.000 smart_Znf_U1,smart_Znf_C2H2-like pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ZNF106 64397 genome.wustl.edu 37 15 42734469 42734469 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 15 42734469 42734469 G A SNP ZFP106 ENST00000263805 human ensembl 70_37 -1 known missense c.3496 p.H1166Y 0.997 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZFP106 HGNC ZNF366 167465 genome.wustl.edu 37 5 71740119 71740119 + Splice_Site SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 5 71740119 71740119 C G SNP ZNF366 ENST00000318442 human ensembl 70_37 -1 known splice_site c.1700-1 e4-1 1.000 - - - no_errors ZNF366 HGNC ZNF48 197407 genome.wustl.edu 37 16 30409681 30409681 + Silent SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 16 30409681 30409681 C G SNP ZNF48 ENST00000320159 human ensembl 70_37 +1 known silent c.1110 p.L370 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ZNF598 90850 genome.wustl.edu 37 16 2049698 2049698 + Missense_Mutation SNP G G T TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 16 2049698 2049698 G T SNP ZNF598 ENST00000431526 human ensembl 70_37 -1 known missense c.1852 p.P618T 0.648 NULL superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ZNF598 90850 genome.wustl.edu 37 16 2050434 2050434 + Missense_Mutation SNP G G A TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 16 2050434 2050434 G A SNP ZNF598 ENST00000431526 human ensembl 70_37 -1 known missense c.1250 p.S417L 0.004 NULL superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ZNF645 158506 genome.wustl.edu 37 X 22291649 22291649 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b1c779c-a2a3-46f1-bbea-845afa302761 83a1e958-4f39-443b-a1b1-4712d0460aa0 X 22291649 22291649 C G SNP ZNF645 ENST00000323684 human ensembl 70_37 +1 known missense c.541 p.P181A 0.000 NULL pfscan_Znf_RING,pfscan_Znf_C2H2 - no_errors ZNF645 HGNC