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 ABCC10 89845 genome.wustl.edu 37 6 43406530 43406530 + Silent SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 6 43406530 43406530 C G SNP ABCC10 ENST00000372530 human ensembl 70_37 +1 known silent c.2124 p.L708 0.015 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like 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 - no_errors ABCC10 HGNC ACP1 52 genome.wustl.edu 37 2 272070 272070 + Missense_Mutation SNP G G C TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 2 272070 272070 G C SNP ACP1 ENST00000272065 human ensembl 70_37 +1 known missense c.151 p.E51Q 1.000 pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase - no_errors ACP1 HGNC ACTB 60 genome.wustl.edu 37 7 5568000 5568000 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 7 5568000 5568000 C G SNP ACTB ENST00000331789 human ensembl 70_37 -1 known missense c.714 p.K238N 1.000 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTB HGNC ADA 100 genome.wustl.edu 37 20 43255112 43255112 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 20 43255112 43255112 G A SNP ADA ENST00000372874 human ensembl 70_37 -1 known missense c.347 p.P116L 1.000 pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase - no_errors ADA HGNC AFAP1L1 134265 genome.wustl.edu 37 5 148695471 148695471 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 5 148695471 148695471 G A SNP AFAP1L1 ENST00000296721 human ensembl 70_37 +1 known missense c.1108 p.D370N 0.914 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC AKAP3 10566 genome.wustl.edu 37 12 4737915 4737915 + Silent SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 12 4737915 4737915 C T SNP AKAP3 ENST00000228850 human ensembl 70_37 -1 known silent c.153 p.K51 0.920 smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC BSN 8927 genome.wustl.edu 37 3 49694574 49694574 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 3 49694574 49694574 C T SNP BSN ENST00000296452 human ensembl 70_37 +1 known missense c.7585 p.R2529W 0.469 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC C11orf30 56946 genome.wustl.edu 37 11 76253261 76253261 + Silent SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 11 76253261 76253261 C T SNP C11orf30 ENST00000334736 human ensembl 70_37 +1 known silent c.2559 p.V853 0.997 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC C14orf182 283551 genome.wustl.edu 37 14 50470652 50470652 + RNA SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 14 50470652 50470652 C T SNP C14orf182 ENST00000529902 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors C14orf182 HGNC C1orf173 127254 genome.wustl.edu 37 1 75038598 75038598 + Silent SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 1 75038598 75038598 C T SNP C1orf173 ENST00000326665 human ensembl 70_37 -1 known silent c.2796 p.E932 0.000 NULL NULL - no_errors C1orf173 HGNC CAPN8 388743 genome.wustl.edu 37 1 223815838 223815838 + Missense_Mutation SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 1 223815838 223815838 G T SNP CAPN8 ENST00000366872 human ensembl 70_37 -1 known missense c.433 p.Q145K 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN8 HGNC CASP8 841 genome.wustl.edu 37 2 202137499 202137499 + Missense_Mutation SNP G G C TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 2 202137499 202137499 G C SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known missense c.727 p.E243Q 1.000 superfamily_DEATH-like pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC CD70 970 genome.wustl.edu 37 19 6586084 6586084 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 19 6586084 6586084 G A SNP CD70 ENST00000245903 human ensembl 70_37 -1 known missense c.529 p.P177S 0.017 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF - no_errors CD70 HGNC CDC16 8881 genome.wustl.edu 37 13 115012590 115012591 + RNA INS - - T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 13 115012590 115012591 - T INS CDC16 ENST00000494581 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.004 - - - no_errors CDC16 HGNC CHST8 64377 genome.wustl.edu 37 19 34263476 34263476 + Silent SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 19 34263476 34263476 C T SNP CHST8 ENST00000262622 human ensembl 70_37 +1 known silent c.783 p.F261 0.997 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC CIITA 4261 genome.wustl.edu 37 16 11009489 11009489 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 16 11009489 11009489 C T SNP CIITA ENST00000324288 human ensembl 70_37 +1 known missense c.2951 p.S984F 0.967 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC CLPTM1L 81037 genome.wustl.edu 37 5 1341804 1341804 + Silent SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 5 1341804 1341804 G A SNP CLPTM1L ENST00000320895 human ensembl 70_37 -1 known silent c.435 p.T145 0.004 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1L HGNC CST4 1472 genome.wustl.edu 37 20 23666568 23666568 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 20 23666568 23666568 C T SNP CST4 ENST00000217423 human ensembl 70_37 -1 known missense c.389 p.R130K 0.001 smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST4 HGNC CTNNAL1 8727 genome.wustl.edu 37 9 111775718 111775718 + Missense_Mutation SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 9 111775718 111775718 G T SNP CTNNAL1 ENST00000325551 human ensembl 70_37 -1 known missense c.5 p.A2D 0.991 NULL pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin - no_errors CTNNAL1 HGNC CUL1 8454 genome.wustl.edu 37 7 148495070 148495070 + Silent SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 7 148495070 148495070 G A SNP CUL1 ENST00000325222 human ensembl 70_37 +1 known silent c.1989 p.L663 1.000 superfamily_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC CUTA 51596 genome.wustl.edu 37 6 33384740 33384740 + Missense_Mutation SNP T T G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 6 33384740 33384740 T G SNP CUTA ENST00000374500 human ensembl 70_37 -1 known missense c.427 p.K143Q 1.000 pfam_Ion_tolerance_CutA,superfamily_N-reg_PII-like_a/b pfam_Ion_tolerance_CutA,superfamily_N-reg_PII-like_a/b - no_errors CUTA HGNC DNAJC7 7266 genome.wustl.edu 37 17 40133891 40133891 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 17 40133891 40133891 C T SNP DNAJC7 ENST00000457167 human ensembl 70_37 -1 known missense c.1366 p.E456K 1.000 superfamily_DnaJ_N pfam_TPR-1,pfam_TPR_2,pfam_DnaJ_N,superfamily_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC7 HGNC DPY19L2P1 554236 genome.wustl.edu 37 7 35189789 35189789 + RNA SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 7 35189789 35189789 C T SNP DPY19L2P1 ENST00000458672 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors DPY19L2P1 HGNC DYNLRB1 83658 genome.wustl.edu 37 20 33128384 33128384 + Splice_Site SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 20 33128384 33128384 G T SNP DYNLRB1 ENST00000357156 human ensembl 70_37 +1 known splice_site c.248-1 e4-1 1.000 - - - no_errors DYNLRB1 HGNC ENSG00000211459 0 genome.wustl.edu 37 MT 1351 1351 + RNA SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd MT 1351 1351 G T SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000216173 0 genome.wustl.edu 37 14 99828697 99828697 + RNA SNP T T A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 14 99828697 99828697 T A SNP ENSG00000216173 ENST00000401354 human ensembl 70_37 +1 novel rna NULL NULL 0.000 - - - no_errors AL132819.1 Clone_based_ensembl_gene ENSG00000221281 0 genome.wustl.edu 37 6 67069361 67069362 + RNA DEL AC AC - TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 6 67069361 67069362 AC - DEL ENSG00000221281 ENST00000408354 human ensembl 70_37 +1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC002485.1 Clone_based_ensembl_gene ENSG00000269463 0 genome.wustl.edu 37 11 62575156 62575156 + RNA SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 11 62575156 62575156 C T SNP ENSG00000269463 ENST00000596971 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-727F15.13 Clone_based_vega_gene ETV2 2116 genome.wustl.edu 37 19 36134313 36134313 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 19 36134313 36134313 G A SNP ETV2 ENST00000402764 human ensembl 70_37 +1 known missense c.373 p.E125K 0.000 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV2 HGNC EZH2 2146 genome.wustl.edu 37 7 148523576 148523576 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 7 148523576 148523576 C G SNP EZH2 ENST00000320356 human ensembl 70_37 -1 known missense c.877 p.D293H 1.000 NULL pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH2 HGNC FAM151B 167555 genome.wustl.edu 37 5 79809458 79809458 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 5 79809458 79809458 C G SNP FAM151B ENST00000282226 human ensembl 70_37 +1 known missense c.187 p.P63A 0.546 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151B HGNC FAM179B 23116 genome.wustl.edu 37 14 45464961 45464961 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 14 45464961 45464961 G A SNP FAM179B ENST00000361577 human ensembl 70_37 +1 known missense c.2059 p.D687N 0.993 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC FBXO34 55030 genome.wustl.edu 37 14 55818715 55818715 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 14 55818715 55818715 C G SNP FBXO34 ENST00000313833 human ensembl 70_37 +1 known missense c.1607 p.S536C 0.001 NULL superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO34 HGNC GALNS 2588 genome.wustl.edu 37 16 88898465 88898465 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 16 88898465 88898465 C G SNP GALNS ENST00000268695 human ensembl 70_37 -1 known missense c.943 p.E315Q 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors GALNS HGNC GEMIN5 25929 genome.wustl.edu 37 5 154280965 154280965 + Missense_Mutation SNP G G C TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 5 154280965 154280965 G C SNP GEMIN5 ENST00000285873 human ensembl 70_37 -1 known missense c.2948 p.S983C 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 GJA4 2701 genome.wustl.edu 37 1 35260438 35260438 + Silent SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 1 35260438 35260438 C T SNP GJA4 ENST00000342280 human ensembl 70_37 +1 known silent c.624 p.I208 1.000 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin37 - no_errors GJA4 HGNC GPR125 166647 genome.wustl.edu 37 4 22415240 22415240 + Silent SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 4 22415240 22415240 C T SNP GPR125 ENST00000334304 human ensembl 70_37 -1 known silent c.2007 p.V669 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR125 HGNC GUCY2F 2986 genome.wustl.edu 37 X 108696806 108696806 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd X 108696806 108696806 G A SNP GUCY2F ENST00000218006 human ensembl 70_37 -1 known missense c.1315 p.H439Y 1.000 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC HECTD4 283450 genome.wustl.edu 37 12 112712683 112712683 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 12 112712683 112712683 G A SNP HECTD4 ENST00000550722 human ensembl 70_37 -1 novel missense c.1337 p.S446L 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC HINFP 25988 genome.wustl.edu 37 11 119003445 119003445 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 11 119003445 119003445 C T SNP HINFP ENST00000350777 human ensembl 70_37 +1 known missense c.829 p.R277C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HINFP HGNC HLA-A 3105 genome.wustl.edu 37 6 29911898 29911898 + Splice_Site SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 6 29911898 29911898 G A SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known splice_site c.620-1 e4-1 0.987 - - - no_errors HLA-A HGNC HTR3B 9177 genome.wustl.edu 37 11 113813893 113813893 + Missense_Mutation SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 11 113813893 113813893 G T SNP HTR3B ENST00000260191 human ensembl 70_37 +1 known missense c.886 p.V296L 0.019 pfam_Neurotrans-gated_channel_TM,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 IRGQ 126298 genome.wustl.edu 37 19 44096997 44096997 + Silent SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 19 44096997 44096997 G A SNP IRGQ ENST00000422989 human ensembl 70_37 -1 known silent c.1053 p.G351 0.000 NULL NULL - no_errors IRGQ HGNC ITGB1BP1 9270 genome.wustl.edu 37 2 9552384 9552384 + Frame_Shift_Del DEL T T - TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 2 9552384 9552384 T - DEL ITGB1BP1 ENST00000483795 human ensembl 70_37 -1 known frame_shift_del c.302 p.N101fs 0.000 NULL pfam_Integrin-bd_ICAP-1 - no_errors ITGB1BP1 HGNC KAT6B 23522 genome.wustl.edu 37 10 76789437 76789437 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 10 76789437 76789437 G A SNP KAT6B ENST00000287239 human ensembl 70_37 +1 known missense c.4855 p.V1619I 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC KCNMA1 3778 genome.wustl.edu 37 10 78651444 78651444 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 10 78651444 78651444 G A SNP KCNMA1 ENST00000406533 human ensembl 70_37 -1 known missense c.3193 p.R1065W 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC AREL1 9870 genome.wustl.edu 37 14 75151319 75151319 + Silent SNP T T A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 14 75151319 75151319 T A SNP KIAA0317 ENST00000356357 human ensembl 70_37 -1 known silent c.81 p.A27 1.000 NULL pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT - no_errors KIAA0317 HGNC LILRA4 23547 genome.wustl.edu 37 19 54848713 54848713 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 19 54848713 54848713 C T SNP LILRA4 ENST00000291759 human ensembl 70_37 -1 known missense c.910 p.E304K 0.000 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA4 HGNC LPAL2 80350 genome.wustl.edu 37 6 160906846 160906846 + Splice_Site SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 6 160906846 160906846 C T SNP LPAL2 ENST00000335388 human ensembl 70_37 -1 known splice_site c.NULL NULL 0.969 - - - no_errors LPAL2 HGNC MAGEL2 54551 genome.wustl.edu 37 15 23890185 23890185 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 15 23890185 23890185 G A SNP MAGEL2 ENST00000532292 human ensembl 70_37 -1 known missense c.896 p.T299M 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC METTL4 64863 genome.wustl.edu 37 18 2544664 2544664 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 18 2544664 2544664 G A SNP METTL4 ENST00000574538 human ensembl 70_37 -1 known missense c.1169 p.A390V 0.102 pfam_MT-A70-like,pfscan_MT-A70-like pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL4 HGNC MGA 23269 genome.wustl.edu 37 15 42058656 42058656 + Silent SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 15 42058656 42058656 G T SNP MGA ENST00000219905 human ensembl 70_37 +1 known silent c.8376 p.L2792 0.999 NULL pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC MGEA5 10724 genome.wustl.edu 37 10 103563732 103563732 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 10 103563732 103563732 C G SNP MGEA5 ENST00000361464 human ensembl 70_37 -1 known missense c.796 p.E266Q 1.000 pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase - no_errors MGEA5 HGNC MPST 4357 genome.wustl.edu 37 22 37420682 37420682 + Silent SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 22 37420682 37420682 C T SNP MPST ENST00000397129 human ensembl 70_37 +1 known silent c.486 p.L162 0.582 superfamily_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors MPST HGNC MRRFP1 286423 genome.wustl.edu 37 X 122251331 122251331 + Silent SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd X 122251331 122251331 C T SNP MRRFP1 ENST00000435941 human ensembl 70_37 -1 known silent c.279 p.K93 0.989 superfamily_Ribosome_recyc_fac_dom pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom - no_errors MRRFP1 HGNC MT-CO1 4512 genome.wustl.edu 37 MT 6912 6912 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd MT 6912 6912 G A SNP MT-CO1 ENST00000361624 human ensembl 70_37 +1 known missense c.1009 p.A337T NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC MUC17 140453 genome.wustl.edu 37 7 100678400 100678400 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 7 100678400 100678400 G A SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.3703 p.E1235K 0.019 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC MUT 4594 genome.wustl.edu 37 6 49403181 49403181 + Silent SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 6 49403181 49403181 C T SNP MUT ENST00000274813 human ensembl 70_37 -1 known silent c.2112 p.V704 1.000 pfam_Cobalamin-bd,superfamily_Cobalamin-bd,tigrfam_Acid_CoA_mut_C pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C - no_errors MUT HGNC MXRA5 25878 genome.wustl.edu 37 X 3242249 3242249 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd X 3242249 3242249 C T SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known missense c.1477 p.E493K 0.922 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC NBL1 4681 genome.wustl.edu 37 1 19981629 19981629 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 1 19981629 19981629 G A SNP NBL1 ENST00000289749 human ensembl 70_37 +1 known missense c.211 p.E71K 1.000 pfam_DAN,pfam_Cys_knot pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C - no_errors NBL1 HGNC NEU1 4758 genome.wustl.edu 37 6 31827564 31827564 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 6 31827564 31827564 C T SNP NEU1 ENST00000375631 human ensembl 70_37 -1 known missense c.1180 p.E394K 1.000 superfamily_Neuraminidase superfamily_Neuraminidase - no_errors NEU1 HGNC NFKBIA 4792 genome.wustl.edu 37 14 35872491 35872491 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 14 35872491 35872491 C G SNP NFKBIA ENST00000216797 human ensembl 70_37 -1 known missense c.412 p.E138Q 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIA HGNC NOTCH3 4854 genome.wustl.edu 37 19 15295256 15295256 + Nonsense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 19 15295256 15295256 G A SNP NOTCH3 ENST00000263388 human ensembl 70_37 -1 known nonsense c.2416 p.R806* 0.115 pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC NUCB1 4924 genome.wustl.edu 37 19 49404117 49404117 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 19 49404117 49404117 C T SNP NUCB1 ENST00000263273 human ensembl 70_37 +1 known missense c.64 p.R22C 0.162 NULL pfscan_EF_HAND_2 - no_errors NUCB1 HGNC NUDT3 11165 genome.wustl.edu 37 6 34261289 34261289 + Silent SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 6 34261289 34261289 C T SNP NUDT3 ENST00000358797 human ensembl 70_37 -1 known silent c.279 p.T93 0.048 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT3 HGNC OR51A7 119687 genome.wustl.edu 37 11 4929287 4929287 + Silent SNP T T C TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 11 4929287 4929287 T C SNP OR51A7 ENST00000359350 human ensembl 70_37 +1 known silent c.688 p.L230 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51A7 HGNC OXA1L 5018 genome.wustl.edu 37 14 23235776 23235776 + Missense_Mutation SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 14 23235776 23235776 G T SNP OXA1L ENST00000285848 human ensembl 70_37 +1 known missense c.46 p.A16S 0.829 NULL pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membrane_insert_OXA1/ALB3/YidC - no_errors OXA1L HGNC PLXNA3 55558 genome.wustl.edu 37 X 153698895 153698895 + Missense_Mutation SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd X 153698895 153698895 G T SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.5097 p.E1699D 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot 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 PLXNA3 HGNC PPID 5481 genome.wustl.edu 37 4 159634413 159634413 + Splice_Site SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 4 159634413 159634413 C T SNP PPID ENST00000307720 human ensembl 70_37 -1 known splice_site c.753-1 e7-1 1.000 - - - no_errors PPID HGNC PREX1 57580 genome.wustl.edu 37 20 47361648 47361648 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 20 47361648 47361648 G A SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known missense c.328 p.H110Y 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain 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 RGR 5995 genome.wustl.edu 37 10 86008021 86008021 + RNA SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 10 86008021 86008021 G T SNP RGR ENST00000483771 human ensembl 70_37 +1 known rna NULL NULL 0.979 - - - no_errors RGR HGNC RNF113A 7737 genome.wustl.edu 37 X 119004829 119004829 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd X 119004829 119004829 C G SNP RNF113A ENST00000371442 human ensembl 70_37 -1 known missense c.748 p.E250Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113A HGNC RSF1 51773 genome.wustl.edu 37 11 77436745 77436745 + Splice_Site SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 11 77436745 77436745 C G SNP RSF1 ENST00000308488 human ensembl 70_37 -1 known splice_site c.579-1 e5-1 1.000 - - - no_errors RSF1 HGNC SELL 6402 genome.wustl.edu 37 1 169670640 169670640 + RNA DEL T T - TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 1 169670640 169670640 T - DEL SELL ENST00000463108 human ensembl 70_37 -1 known rna NULL NULL 0.017 - - - no_errors SELL HGNC SETX 23064 genome.wustl.edu 37 9 135205161 135205161 + Silent SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 9 135205161 135205161 C G SNP SETX ENST00000372169 human ensembl 70_37 -1 known silent c.1824 p.L608 0.007 NULL NULL - no_errors SETX HGNC SH2B1 25970 genome.wustl.edu 37 16 28877623 28877623 + Missense_Mutation SNP G G C TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 16 28877623 28877623 G C SNP SH2B1 ENST00000322610 human ensembl 70_37 +1 known missense c.208 p.E70Q 1.000 pfam_Phe_ZIP,superfamily_Phe_ZIP pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC SHBG 6462 genome.wustl.edu 37 17 7533799 7533799 + Missense_Mutation SNP G G C TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 17 7533799 7533799 G C SNP SHBG ENST00000380450 human ensembl 70_37 +1 known missense c.177 p.M59I 0.951 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors SHBG HGNC SLC27A5 10998 genome.wustl.edu 37 19 59010279 59010279 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 19 59010279 59010279 C G SNP SLC27A5 ENST00000263093 human ensembl 70_37 -1 known missense c.1769 p.C590S 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC SLC41A1 254428 genome.wustl.edu 37 1 205764045 205764045 + Missense_Mutation SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 1 205764045 205764045 G T SNP SLC41A1 ENST00000367137 human ensembl 70_37 -1 known missense c.1309 p.L437I 1.000 pfam_MgtE_Mg_transptr_membr pfam_MgtE_Mg_transptr_membr - no_errors SLC41A1 HGNC SMC4 10051 genome.wustl.edu 37 3 160142730 160142730 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 3 160142730 160142730 G A SNP SMC4 ENST00000344722 human ensembl 70_37 +1 known missense c.2401 p.E801K 1.000 pfam_RecF/RecN/SMC,superfamily_Chemotax_Me-accpt_rcpt_lig-bd pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC SRMS 6725 genome.wustl.edu 37 20 62178640 62178640 + Silent SNP G G C TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 20 62178640 62178640 G C SNP SRMS ENST00000217188 human ensembl 70_37 -1 known silent c.177 p.L59 0.454 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SRMS HGNC SWAP70 23075 genome.wustl.edu 37 11 9759861 9759861 + Missense_Mutation SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 11 9759861 9759861 G T SNP SWAP70 ENST00000318950 human ensembl 70_37 +1 known missense c.1182 p.E394D 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_HAND_2,pfscan_Pleckstrin_homology - no_errors SWAP70 HGNC TAF5L 27097 genome.wustl.edu 37 1 229730463 229730463 + Missense_Mutation SNP G G C TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 1 229730463 229730463 G C SNP TAF5L ENST00000258281 human ensembl 70_37 -1 known missense c.1351 p.R451G 0.963 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TAF5L HGNC TAS1R2 80834 genome.wustl.edu 37 1 19181144 19181144 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 1 19181144 19181144 C T SNP TAS1R2 ENST00000375371 human ensembl 70_37 -1 novel missense c.820 p.V274M 0.087 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC TBC1D16 125058 genome.wustl.edu 37 17 77921464 77921464 + Missense_Mutation SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 17 77921464 77921464 C G SNP TBC1D16 ENST00000310924 human ensembl 70_37 -1 known missense c.1708 p.E570Q 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 TBC1D16 HGNC TCEANC 170082 genome.wustl.edu 37 X 13682531 13682531 + RNA SNP C C G TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd X 13682531 13682531 C G SNP TCEANC ENST00000490617 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TCEANC HGNC TCF21 6943 genome.wustl.edu 37 6 134212865 134212865 + Missense_Mutation SNP G G T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 6 134212865 134212865 G T SNP TCF21 ENST00000237316 human ensembl 70_37 +1 known missense c.465 p.M155I 1.000 superfamily_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TCF21 HGNC U2AF1 7307 genome.wustl.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 21 44524456 44524456 G A SNP U2AF1 ENST00000291552 human ensembl 70_37 -1 known missense c.101 p.S34F 1.000 pfam_Znf_CCCH,smart_Znf_CCCH,prints_U2_small pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small - no_errors U2AF1 HGNC USH2A 7399 genome.wustl.edu 37 1 216138814 216138814 + Missense_Mutation SNP T T C TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 1 216138814 216138814 T C SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.6965 p.N2322S 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC WDHD1 11169 genome.wustl.edu 37 14 55422403 55422403 + Missense_Mutation SNP C C A TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 14 55422403 55422403 C A SNP WDHD1 ENST00000360586 human ensembl 70_37 -1 known missense c.2926 p.A976S 1.000 NULL pfam_WD40_repeat,pfam_DUF3639,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_superfamily,smart_WD40_repeat,smart_HMG_superfamily,pfscan_HMG_superfamily,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDHD1 HGNC ZNF484 83744 genome.wustl.edu 37 9 95608983 95608983 + Missense_Mutation SNP C C T TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfb312b-35be-4631-be58-94556dbe866c 8da1f60a-7dd4-4e44-b983-5d8dcd9404fd 9 95608983 95608983 C T SNP ZNF484 ENST00000395506 human ensembl 70_37 -1 known missense c.2092 p.E698K 0.987 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 ZNF484 HGNC