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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All AHNAK 0 genome.wustl.edu 37 11 62298678 62298678 + Missense_Mutation SNP C C T TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 11 62298678 62298678 C T SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.3211 p.D1071N 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 26 0 0.00 23 14 37.84 - - - ATP10D 0 genome.wustl.edu 37 4 47514627 47514627 + Missense_Mutation SNP G G T TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 4 47514627 47514627 G T SNP ATP10D ENST00000273859 human ensembl 69_37n +1 known missense c.70 p.D24Y 0.000 NULL 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 ATP10D HGNC ENSG00000145246 40 0 0.00 96 16 14.29 - - - BCL10 0 genome.wustl.edu 37 1 85736385 85736385 + Missense_Mutation SNP G G C TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 1 85736385 85736385 G C SNP BCL10 ENST00000271015 human ensembl 69_37n -1 known missense c.262 p.R88G 0.406 pfam_CARD,superfamily_DEATH-like pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors BCL10 HGNC ENSG00000142867 88 0 0.00 85 44 34.11 - - - C3orf20 0 genome.wustl.edu 37 3 14803016 14803016 + Missense_Mutation SNP G G A TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 3 14803016 14803016 G A SNP C3orf20 ENST00000253697 human ensembl 69_37n +1 known missense c.2389 p.V797I 0.617 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 62 0 0.00 46 16 25.40 - - - CCNF 0 genome.wustl.edu 37 16 2493715 2493715 + Missense_Mutation SNP G G C TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 16 2493715 2493715 G C SNP CCNF ENST00000397066 human ensembl 69_37n +1 known missense c.843 p.E281D 0.294 superfamily_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors CCNF HGNC ENSG00000162063 32 0 0.00 43 11 20.37 - - - CDK11A 0 genome.wustl.edu 37 1 1635354 1635354 + Missense_Mutation SNP C C A TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 1 1635354 1635354 C A SNP CDK11A ENST00000404249 human ensembl 69_37n -1 known missense c.1820 p.W607L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK11A HGNC ENSG00000008128 43 0 0.00 39 28 41.79 - - - CDK19 0 genome.wustl.edu 37 6 110944513 110944513 + Missense_Mutation SNP C C G TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 6 110944513 110944513 C G SNP CDK19 ENST00000368911 human ensembl 69_37n -1 known missense c.913 p.D305H 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_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 CDK19 HGNC ENSG00000155111 45 0 0.00 133 23 14.74 - - - COG1 0 genome.wustl.edu 37 17 71193052 71193052 + Missense_Mutation SNP C C G TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 17 71193052 71193052 C G SNP COG1 ENST00000299886 human ensembl 69_37n +1 known missense c.574 p.H192D 0.999 NULL pfam_Vps51 - no_errors COG1 HGNC ENSG00000166685 45 0 0.00 73 79 51.63 - - - CPXM1 0 genome.wustl.edu 37 20 2777256 2777256 + Missense_Mutation SNP C C T TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 20 2777256 2777256 C T SNP CPXM1 ENST00000380605 human ensembl 69_37n -1 known missense c.962 p.R321H 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors CPXM1 HGNC ENSG00000088882 93 0 0.00 171 28 14.00 - - - CTAG2 0 genome.wustl.edu 37 X 153881598 153881598 + Silent SNP C C T TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc X 153881598 153881598 C T SNP CTAG2 ENST00000369585 human ensembl 69_37n -1 known silent c.192 p.P64 0.000 NULL pfam_EKC/KEOPS_Pcc1 - no_errors CTAG2 HGNC ENSG00000126890 27 0 0.00 27 9 24.32 - - - DDX56 0 genome.wustl.edu 37 7 44612192 44612192 + Missense_Mutation SNP C C G TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 7 44612192 44612192 C G SNP DDX56 ENST00000258772 human ensembl 69_37n -1 known missense c.535 p.E179Q 0.988 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX56 HGNC ENSG00000136271 45 0 0.00 69 22 23.91 - - - DNAH17 0 genome.wustl.edu 37 17 76567116 76567116 + Splice_Site SNP C C G TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 17 76567116 76567116 C G SNP DNAH17 ENST00000389840 human ensembl 69_37n -1 known splice_site c.833-1 e5-1 1.000 - - - no_errors DNAH17 HGNC ENSG00000187775 29 0 0.00 39 7 15.22 - - - ENAM 0 genome.wustl.edu 37 4 71508643 71508643 + Silent SNP T T C TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 4 71508643 71508643 T C SNP ENAM ENST00000396073 human ensembl 69_37n +1 known silent c.1500 p.D500 0.726 NULL NULL - no_errors ENAM HGNC ENSG00000132464 15 0 0.00 22 12 35.29 - - - FAM65C 0 genome.wustl.edu 37 20 49236628 49236628 + Missense_Mutation SNP G G T TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 20 49236628 49236628 G T SNP FAM65C ENST00000535356 human ensembl 69_37n -1 known missense c.164 p.A55E 0.000 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 32 0 0.00 66 10 13.16 - - - GNAO1 0 genome.wustl.edu 37 16 56388909 56388909 + Missense_Mutation SNP G G A TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 16 56388909 56388909 G A SNP GNAO1 ENST00000262493 human ensembl 69_37n +1 known missense c.1009 p.D337N 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAO1 HGNC ENSG00000087258 42 0 0.00 70 19 21.35 - - - GON4L 0 genome.wustl.edu 37 1 155733322 155733322 + Missense_Mutation SNP C C T TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 1 155733322 155733322 C T SNP GON4L ENST00000368331 human ensembl 69_37n -1 known missense c.4507 p.E1503K 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 89 0 0.00 266 37 12.21 - - - GSG1L 0 genome.wustl.edu 37 16 27974518 27974518 + Missense_Mutation SNP T T A TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 16 27974518 27974518 T A SNP GSG1L ENST00000447459 human ensembl 69_37n -1 known missense c.356 p.K119I 0.735 pfam_GSG-1,pfam_PMP22/EMP/MP20/Claudin pfam_GSG-1,pfam_PMP22/EMP/MP20/Claudin - no_errors GSG1L HGNC ENSG00000169181 35 0 0.00 86 17 16.50 - - - HEATR5B 0 genome.wustl.edu 37 2 37229509 37229509 + Missense_Mutation SNP G G A TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 2 37229509 37229509 G A SNP HEATR5B ENST00000233099 human ensembl 69_37n -1 known missense c.5257 p.R1753C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 34 0 0.00 60 11 15.49 - - - IGF2R 0 genome.wustl.edu 37 6 160510276 160510277 + Frame_Shift_Del DEL TT TT - TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 6 160510276 160510277 TT - DEL IGF2R ENST00000356956 human ensembl 69_37n +1 known frame_shift_del c.6458_6459 p.Y2154fs 0.910:1.000 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 30 0 0.00 28 24 44.44 - - - INTS1 0 genome.wustl.edu 37 7 1529306 1529306 + Silent SNP C C T TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 7 1529306 1529306 C T SNP INTS1 ENST00000389470 human ensembl 69_37n -1 known silent c.2562 p.P854 0.237 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 19 0 0.00 22 8 26.67 - - - KIAA1522 0 genome.wustl.edu 37 1 33238473 33238473 + Missense_Mutation SNP G G C TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 1 33238473 33238473 G C SNP KIAA1522 ENST00000401073 human ensembl 69_37n +1 known missense c.3270 p.Q1090H 0.904 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 38 0 0.00 50 25 33.33 - - - KIRREL2 0 genome.wustl.edu 37 19 36351484 36351484 + Silent SNP C C T TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 19 36351484 36351484 C T SNP KIRREL2 ENST00000360202 human ensembl 69_37n +1 known silent c.843 p.D281 0.998 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL2 HGNC ENSG00000126259 26 0 0.00 38 15 28.30 - - - KRT78 0 genome.wustl.edu 37 12 53233561 53233561 + Missense_Mutation SNP C C T TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 12 53233561 53233561 C T SNP KRT78 ENST00000304620 human ensembl 69_37n -1 known missense c.1255 p.G419S 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT78 HGNC ENSG00000170423 31 0 0.00 45 7 13.46 - - - KRTAP4-7 0 genome.wustl.edu 37 17 39240791 39240791 + Silent SNP C C T TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 17 39240791 39240791 C T SNP KRTAP4-7 ENST00000391417 human ensembl 69_37n +1 known silent c.333 p.R111 0.000 NULL pfam_Keratin-assoc - no_errors KRTAP4-7 HGNC ENSG00000240871 32 0 0.00 21 5 18.52 - - - MBD5 0 genome.wustl.edu 37 2 149247274 149247274 + Missense_Mutation SNP C C T TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 2 149247274 149247274 C T SNP MBD5 ENST00000407073 human ensembl 69_37n +1 known missense c.3374 p.A1125V 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP - no_errors MBD5 HGNC ENSG00000204406 56 0 0.00 72 24 25.00 - - - MIR1185-1 0 genome.wustl.edu 37 14 101509354 101509354 + RNA SNP G G C TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 14 101509354 101509354 G C SNP MIR1185-1 ENST00000408598 human ensembl 69_37n +1 known rna NULL NULL 0.342 - - - no_errors MIR1185-1 HGNC ENSG00000221525 73 0 0.00 81 37 31.36 - - - MLL2 0 genome.wustl.edu 37 12 49437197 49437197 + Missense_Mutation SNP C C G TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 12 49437197 49437197 C G SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known missense c.5482 p.D1828H 0.990 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 26 0 0.00 69 10 12.66 - - - MTHFD1L 0 genome.wustl.edu 37 6 151208992 151208992 + Missense_Mutation SNP G G T TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 6 151208992 151208992 G T SNP MTHFD1L ENST00000367321 human ensembl 69_37n +1 known missense c.655 p.D219Y 0.921 pfam_THF_DH/CycHdrlase_NAD-bd_dom,prints_THF_DH/CycHdrlase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 74 0 0.00 96 24 20.00 - - - N4BP2 0 genome.wustl.edu 37 4 40122051 40122051 + Missense_Mutation SNP T T C TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 4 40122051 40122051 T C SNP N4BP2 ENST00000261435 human ensembl 69_37n +1 known missense c.2320 p.S774P 0.215 NULL pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 17 0 0.00 14 7 33.33 - - - OBSCN 0 genome.wustl.edu 37 1 228451893 228451893 + Silent SNP G G C TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 1 228451893 228451893 G C SNP OBSCN ENST00000422127 human ensembl 69_37n +1 known silent c.4662 p.L1554 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 41 0 0.00 96 18 15.79 - - - OR4C11 0 genome.wustl.edu 37 11 55371451 55371451 + Silent SNP G G A TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 11 55371451 55371451 G A SNP OR4C11 ENST00000302231 human ensembl 69_37n -1 known silent c.399 p.I133 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4C11 HGNC ENSG00000172188 16 0 0.00 18 10 35.71 - - - OR5AN1 0 genome.wustl.edu 37 11 59132707 59132707 + Missense_Mutation SNP T T C TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 11 59132707 59132707 T C SNP OR5AN1 ENST00000313940 human ensembl 69_37n +1 known missense c.776 p.V259A 0.958 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5AN1 HGNC ENSG00000176495 51 0 0.00 92 32 25.81 - - - PAM 0 genome.wustl.edu 37 5 102353039 102353039 + Missense_Mutation SNP A A G TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 5 102353039 102353039 A G SNP PAM ENST00000304400 human ensembl 69_37n +1 known missense c.2333 p.H778R 0.967 pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase - no_errors PAM HGNC ENSG00000145730 83 0 0.00 202 44 17.89 - - - PEG3 0 genome.wustl.edu 37 19 57325285 57325285 + Missense_Mutation SNP C C T TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 19 57325285 57325285 C T SNP PEG3 ENST00000326441 human ensembl 69_37n -1 known missense c.4525 p.E1509K 0.031 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 39 0 0.00 103 23 18.11 - - - PHF8 0 genome.wustl.edu 37 X 54026388 54026388 + Missense_Mutation SNP C C T TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc X 54026388 54026388 C T SNP PHF8 ENST00000357988 human ensembl 69_37n -1 known missense c.1256 p.R419Q 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC ENSG00000172943 33 0 0.00 43 9 17.31 - - - PHKA2 0 genome.wustl.edu 37 X 18949833 18949833 + Missense_Mutation SNP C C A TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc X 18949833 18949833 C A SNP PHKA2 ENST00000379942 human ensembl 69_37n -1 known missense c.1171 p.D391Y 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 41 0 0.00 77 13 14.44 - - - PLD1 0 genome.wustl.edu 37 3 171417579 171417579 + Missense_Mutation SNP C C G TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 3 171417579 171417579 C G SNP PLD1 ENST00000351298 human ensembl 69_37n -1 known missense c.1183 p.E395Q 1.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 68 0 0.00 47 33 41.25 - - - RNF19B 0 genome.wustl.edu 37 1 33429830 33429830 + Missense_Mutation SNP C C G TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 1 33429830 33429830 C G SNP RNF19B ENST00000373456 human ensembl 69_37n -1 known missense c.457 p.E153Q 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19B HGNC ENSG00000116514 9 0 0.00 16 4 20.00 - - - SMARCAL1 0 genome.wustl.edu 37 2 217279872 217279872 + Missense_Mutation SNP C C G TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 2 217279872 217279872 C G SNP SMARCAL1 ENST00000357276 human ensembl 69_37n +1 known missense c.445 p.Q149E 0.000 NULL pfam_HARP,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 30 0 0.00 24 13 35.14 - - - SMARCAL1 0 genome.wustl.edu 37 2 217279969 217279969 + Missense_Mutation SNP C C G TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 2 217279969 217279969 C G SNP SMARCAL1 ENST00000357276 human ensembl 69_37n +1 known missense c.542 p.S181C 0.002 NULL pfam_HARP,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 26 0 0.00 21 13 38.24 - - - SRBD1 0 genome.wustl.edu 37 2 45773940 45773940 + Missense_Mutation SNP C C G TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 2 45773940 45773940 C G SNP SRBD1 ENST00000263736 human ensembl 69_37n -1 known missense c.1805 p.R602T 1.000 smart_YqgF/RNaseH-like_dom pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 65 0 0.00 132 74 35.92 - - - TAF5 0 genome.wustl.edu 37 10 105145226 105145226 + Missense_Mutation SNP G G A TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 10 105145226 105145226 G A SNP TAF5 ENST00000369839 human ensembl 69_37n +1 known missense c.1808 p.G603E 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TAF5 HGNC ENSG00000148835 21 0 0.00 41 16 28.07 - - - TAS2R10 0 genome.wustl.edu 37 12 10978187 10978187 + Missense_Mutation SNP C C A TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 12 10978187 10978187 C A SNP TAS2R10 ENST00000240619 human ensembl 69_37n -1 known missense c.682 p.V228F 0.090 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R10 HGNC ENSG00000121318 20 0 0.00 37 16 30.19 - - - TMCC3 0 genome.wustl.edu 37 12 94976125 94976126 + Frame_Shift_Del DEL CG CG - TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 CG CG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 12 94976125 94976126 CG - DEL TMCC3 ENST00000261226 human ensembl 69_37n -1 known frame_shift_del c.268_267 p.D90fs 1.000:0.001 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC ENSG00000057704 76 0 0.00 123 75 37.31 - - - TP53 0 genome.wustl.edu 37 17 7577100 7577100 + Nonsense_Mutation SNP T T A TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 17 7577100 7577100 T A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.838 p.R280* 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 37 0 0.00 9 47 82.46 - - - TRO 0 genome.wustl.edu 37 X 54955076 54955076 + Missense_Mutation SNP G G A TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc X 54955076 54955076 G A SNP TRO ENST00000173898 human ensembl 69_37n +1 known missense c.1919 p.R640H 0.012 pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 17 0 0.00 25 5 16.67 - - - TTLL3 0 genome.wustl.edu 37 3 9860595 9860595 + Missense_Mutation SNP G G C TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 3 9860595 9860595 G C SNP TTLL3 ENST00000426895 human ensembl 69_37n +1 known missense c.949 p.E317Q 0.105 NULL pfam_Tub_tyr_ligase - no_errors TTLL3 HGNC ENSG00000214021 45 0 0.00 41 32 43.84 - - - TTLL3 0 genome.wustl.edu 37 3 9876579 9876579 + Silent SNP G G A TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 3 9876579 9876579 G A SNP TTLL3 ENST00000426895 human ensembl 69_37n +1 known silent c.2340 p.L780 0.822 NULL pfam_Tub_tyr_ligase - no_errors TTLL3 HGNC ENSG00000214021 21 0 0.00 21 11 34.38 - - - TTN 0 genome.wustl.edu 37 2 179479656 179479656 + Silent SNP G G A TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 2 179479656 179479656 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.40974 p.A13658 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 34 0 0.00 68 29 29.90 - - - UGT2B28 0 genome.wustl.edu 37 4 70146552 70146552 + Missense_Mutation SNP G G C TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 357e0b08-fa33-4f58-92b0-d7293b63c01d 4b60a302-dafb-454c-a114-c83e6df778cc 4 70146552 70146552 G C SNP UGT2B28 ENST00000335568 human ensembl 69_37n +1 known missense c.334 p.E112Q 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 81 0 0.00 164 43 20.77 - - -