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 AAK1 22848 genome.wustl.edu 37 2 69709945 69709945 + Splice_Site SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 2 69709945 69709945 C G SNP AAK1 ENST00000409085 human ensembl 70_37 -1 known splice_site c.2366-1 e17-1 1.000 - - - no_errors AAK1 HGNC ABCC6P1 653190 genome.wustl.edu 37 16 18586122 18586122 + RNA SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 16 18586122 18586122 G A SNP ABCC6P1 ENST00000546162 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors ABCC6P1 HGNC AKAP3 10566 genome.wustl.edu 37 12 4735970 4735970 + Frame_Shift_Del DEL A A - TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 4735970 4735970 A - DEL AKAP3 ENST00000228850 human ensembl 70_37 -1 known frame_shift_del c.2098 p.S700fs 0.745 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ANTXRL 195977 genome.wustl.edu 37 10 47668656 47668656 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 10 47668656 47668656 G A SNP ANTXRL ENST00000537271 human ensembl 70_37 +1 known silent c.600 p.R200 0.053 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXRL HGNC ATG4D 84971 genome.wustl.edu 37 19 10655726 10655726 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 10655726 10655726 C T SNP ATG4D ENST00000309469 human ensembl 70_37 +1 known missense c.413 p.S138L 1.000 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4D HGNC ATMIN 23300 genome.wustl.edu 37 16 81077959 81077959 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 16 81077959 81077959 G A SNP ATMIN ENST00000299575 human ensembl 70_37 +1 known missense c.1856 p.G619E 0.819 NULL smart_Znf_C2H2-like - no_errors ATMIN HGNC ATP5I 521 genome.wustl.edu 37 4 668037 668037 + RNA SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 4 668037 668037 C G SNP ATP5I ENST00000505852 human ensembl 70_37 -1 known rna NULL NULL 0.942 - - - no_errors ATP5I HGNC BRSK1 84446 genome.wustl.edu 37 19 55815948 55815948 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 55815948 55815948 G A SNP BRSK1 ENST00000590333 human ensembl 70_37 +1 known silent c.1425 p.P475 0.025 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors BRSK1 HGNC BSDC1 55108 genome.wustl.edu 37 1 32841956 32841956 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 32841956 32841956 C G SNP BSDC1 ENST00000341071 human ensembl 70_37 -1 known missense c.1114 p.E372Q 1.000 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors BSDC1 HGNC C11orf84 144097 genome.wustl.edu 37 11 63585350 63585350 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 11 63585350 63585350 G A SNP C11orf84 ENST00000294244 human ensembl 70_37 +1 known silent c.201 p.P67 0.095 NULL NULL - no_errors C11orf84 HGNC C18orf61 497259 genome.wustl.edu 37 18 12211918 12211918 + RNA SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 18 12211918 12211918 C T SNP C18orf61 ENST00000586642 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors RP11-64C12.3 Clone_based_vega_gene C1orf94 84970 genome.wustl.edu 37 1 34677980 34677980 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 34677980 34677980 C T SNP C1orf94 ENST00000488417 human ensembl 70_37 +1 known missense c.1694 p.P565L 0.953 NULL NULL - no_errors C1orf94 HGNC CACNA1E 777 genome.wustl.edu 37 1 181727095 181727095 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 181727095 181727095 G A SNP CACNA1E ENST00000367573 human ensembl 70_37 +1 known missense c.4342 p.D1448N 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC CACNA1F 778 genome.wustl.edu 37 X 49087754 49087754 + Silent SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 X 49087754 49087754 G C SNP CACNA1F ENST00000376265 human ensembl 70_37 -1 known silent c.291 p.L97 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC CCDC117 150275 genome.wustl.edu 37 22 29177021 29177021 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 22 29177021 29177021 G C SNP CCDC117 ENST00000249064 human ensembl 70_37 +1 known missense c.325 p.E109Q 0.514 NULL NULL - no_errors CCDC117 HGNC CCDC14 64770 genome.wustl.edu 37 3 123674792 123674792 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 3 123674792 123674792 C T SNP CCDC14 ENST00000488653 human ensembl 70_37 -1 known missense c.394 p.E132K 1.000 NULL NULL - no_errors CCDC14 HGNC CDH4 1002 genome.wustl.edu 37 20 60498707 60498707 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 20 60498707 60498707 G A SNP CDH4 ENST00000360469 human ensembl 70_37 +1 known missense c.1573 p.V525M 0.149 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH4 HGNC CELSR3 1951 genome.wustl.edu 37 3 48698441 48698441 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 3 48698441 48698441 G T SNP CELSR3 ENST00000544264 human ensembl 70_37 -1 known missense c.1627 p.P543T 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC CFHR5 81494 genome.wustl.edu 37 1 196971786 196971786 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 196971786 196971786 G A SNP CFHR5 ENST00000367414 human ensembl 70_37 +1 known missense c.1394 p.R465H 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC CGNL1 84952 genome.wustl.edu 37 15 57730626 57730626 + Silent SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 15 57730626 57730626 G T SNP CGNL1 ENST00000281282 human ensembl 70_37 +1 known silent c.429 p.L143 0.989 NULL pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC COL16A1 1307 genome.wustl.edu 37 1 32162848 32162848 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 32162848 32162848 C G SNP COL16A1 ENST00000271069 human ensembl 70_37 -1 known missense c.711 p.E237D 0.998 superfamily_ConA-like_lec_gl_sf pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC COL4A6 1288 genome.wustl.edu 37 X 107414135 107414135 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 X 107414135 107414135 C T SNP COL4A6 ENST00000372216 human ensembl 70_37 -1 known missense c.3293 p.R1098K 0.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC CXorf64 100130613 genome.wustl.edu 37 X 125954662 125954662 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 X 125954662 125954662 C T SNP CXorf64 ENST00000371125 human ensembl 70_37 +1 known missense c.41 p.S14L 0.040 NULL NULL - no_errors CXorf64 HGNC DCLK1 9201 genome.wustl.edu 37 13 36700236 36700236 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 13 36700236 36700236 G T SNP DCLK1 ENST00000360631 human ensembl 70_37 -1 known missense c.39 p.D13E 0.998 NULL pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK1 HGNC DCP1A 55802 genome.wustl.edu 37 3 53321594 53321594 + RNA SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 3 53321594 53321594 C T SNP DCP1A ENST00000294241 human ensembl 70_37 -1 known rna NULL NULL 0.650 - - - no_errors DCP1A HGNC DEPDC1B 55789 genome.wustl.edu 37 5 59940689 59940689 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 5 59940689 59940689 G A SNP DEPDC1B ENST00000265036 human ensembl 70_37 -1 known missense c.592 p.L198F 0.998 NULL pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom - no_errors DEPDC1B HGNC DHX37 57647 genome.wustl.edu 37 12 125432666 125432666 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 125432666 125432666 C T SNP DHX37 ENST00000308736 human ensembl 70_37 -1 known missense c.3352 p.E1118K 0.056 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC DISP1 84976 genome.wustl.edu 37 1 223176653 223176653 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 223176653 223176653 G A SNP DISP1 ENST00000284476 human ensembl 70_37 +1 known silent c.1914 p.G638 0.865 pfam_Patched,pfam_MMPL-typ,pfscan_SSD pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC DNM1P46 196968 genome.wustl.edu 37 15 100340186 100340186 + RNA SNP C C A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 15 100340186 100340186 C A SNP DNM1P46 ENST00000341853 human ensembl 70_37 -1 known rna NULL NULL 0.981 - - - no_errors DNM1P46 HGNC EFCAB1 79645 genome.wustl.edu 37 8 49642371 49642371 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 8 49642371 49642371 G A SNP EFCAB1 ENST00000262103 human ensembl 70_37 -1 known missense c.379 p.H127Y 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2 - no_errors EFCAB1 HGNC EHD2 30846 genome.wustl.edu 37 19 48229265 48229265 + Nonsense_Mutation SNP C C A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 48229265 48229265 C A SNP EHD2 ENST00000263277 human ensembl 70_37 +1 known nonsense c.699 p.Y233* 1.000 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD2 HGNC EHMT2 10919 genome.wustl.edu 37 6 31864229 31864229 + Silent SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 6 31864229 31864229 C T SNP EHMT2 ENST00000395728 human ensembl 70_37 -1 known silent c.564 p.K188 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ELL 8178 genome.wustl.edu 37 19 18572462 18572462 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 18572462 18572462 C G SNP ELL ENST00000262809 human ensembl 70_37 -1 known missense c.670 p.E224Q 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000206567 0 genome.wustl.edu 37 3 10050047 10050047 + RNA SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 3 10050047 10050047 G A SNP ENSG00000206567 ENST00000426698 human ensembl 70_37 -1 known rna NULL NULL 0.143 - - - no_errors AC022007.5 Clone_based_vega_gene ENSG00000233175 0 genome.wustl.edu 37 17 43315909 43315909 + RNA SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 17 43315909 43315909 G A SNP ENSG00000233175 ENST00000587534 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2020K17.3 Clone_based_vega_gene ENSG00000258744 0 genome.wustl.edu 37 14 24977403 24977403 + Nonsense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 14 24977403 24977403 C T SNP ENSG00000258744 ENST00000555109 human ensembl 70_37 +1 putative nonsense c.205 p.Q69* 0.000 NULL NULL - no_errors RP11-80A15.1 Clone_based_vega_gene ERBB2IP 55914 genome.wustl.edu 37 5 65339981 65339981 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 5 65339981 65339981 G A SNP ERBB2IP ENST00000284037 human ensembl 70_37 +1 known missense c.1445 p.R482K 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ESPL1 9700 genome.wustl.edu 37 12 53687103 53687103 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 53687103 53687103 G C SNP ESPL1 ENST00000257934 human ensembl 70_37 +1 known missense c.6208 p.D2070H 1.000 NULL pfam_Peptidase_C50 - no_errors ESPL1 HGNC EXOSC10 5394 genome.wustl.edu 37 1 11126779 11126779 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 11126779 11126779 C G SNP EXOSC10 ENST00000376936 human ensembl 70_37 -1 known missense c.2654 p.R885T 1.000 NULL pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C - no_errors EXOSC10 HGNC FAM179B 23116 genome.wustl.edu 37 14 45465012 45465012 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 14 45465012 45465012 G A SNP FAM179B ENST00000361577 human ensembl 70_37 +1 known missense c.2110 p.D704N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC FREM2 341640 genome.wustl.edu 37 13 39264032 39264032 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 13 39264032 39264032 G C SNP FREM2 ENST00000280481 human ensembl 70_37 +1 known missense c.2551 p.E851Q 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC GAB3 139716 genome.wustl.edu 37 X 153940975 153940975 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 X 153940975 153940975 G C SNP GAB3 ENST00000424127 human ensembl 70_37 -1 known missense c.598 p.L200V 0.099 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC GGACT 87769 genome.wustl.edu 37 13 101184684 101184684 + Silent SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 13 101184684 101184684 C T SNP GGACT ENST00000376250 human ensembl 70_37 -1 known silent c.162 p.L54 0.837 pfam_AIG2-like pfam_AIG2-like - no_errors GGACT HGNC GRHL3 57822 genome.wustl.edu 37 1 24668628 24668628 + Silent SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 24668628 24668628 G C SNP GRHL3 ENST00000350501 human ensembl 70_37 +1 known silent c.1071 p.L357 1.000 pfam_CP2 pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors GRHL3 HGNC HERC2P3 283755 genome.wustl.edu 37 15 20588705 20588705 + RNA SNP C C A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 15 20588705 20588705 C A SNP HERC2P3 ENST00000426501 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HERC2P3 HGNC HIF3A 64344 genome.wustl.edu 37 19 46815449 46815449 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 46815449 46815449 G C SNP HIF3A ENST00000377670 human ensembl 70_37 +1 known missense c.802 p.D268H 1.000 pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC HOXD10 3236 genome.wustl.edu 37 2 176982109 176982109 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 2 176982109 176982109 G A SNP HOXD10 ENST00000249501 human ensembl 70_37 +1 known missense c.548 p.R183H 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXD10 HGNC KCNQ2 3785 genome.wustl.edu 37 20 62045509 62045509 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 20 62045509 62045509 C G SNP KCNQ2 ENST00000354587 human ensembl 70_37 -1 known missense c.1479 p.K493N 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC KCNQ2 3785 genome.wustl.edu 37 20 62045529 62045529 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 20 62045529 62045529 C G SNP KCNQ2 ENST00000354587 human ensembl 70_37 -1 known missense c.1459 p.E487Q 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC MAP10 54627 genome.wustl.edu 37 1 232943181 232943181 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 232943181 232943181 G T SNP KIAA1383 ENST00000418460 human ensembl 70_37 +1 known missense c.2412 p.K804N 0.000 NULL NULL - no_errors KIAA1383 HGNC KIF18B 146909 genome.wustl.edu 37 17 43006267 43006268 + Frame_Shift_Ins INS - - T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 17 43006267 43006268 - T INS KIF18B ENST00000339151 human ensembl 70_37 -1 known frame_shift_ins c.1679_1678 p.I560fs 0.000:0.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18B HGNC KNDC1 85442 genome.wustl.edu 37 10 135020478 135020478 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 10 135020478 135020478 G A SNP KNDC1 ENST00000368571 human ensembl 70_37 +1 putative silent c.3405 p.P1135 0.000 NULL superfamily_Kinase-like_dom,smart_KIND - no_errors KNDC1 HGNC KRT10 3858 genome.wustl.edu 37 17 38976838 38976838 + Silent SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 17 38976838 38976838 C T SNP KRT10 ENST00000269576 human ensembl 70_37 -1 known silent c.792 p.L264 0.212 pfam_F,superfamily_Prefoldin,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT10 HGNC LAMB1 3912 genome.wustl.edu 37 7 107591608 107591608 + RNA SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 7 107591608 107591608 C G SNP LAMB1 ENST00000479448 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors LAMB1 HGNC LAS1L 81887 genome.wustl.edu 37 X 64738311 64738311 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 X 64738311 64738311 C T SNP LAS1L ENST00000374811 human ensembl 70_37 -1 known missense c.1483 p.E495K 0.002 NULL pfam_Las1 - no_errors LAS1L HGNC LDLRAD4 753 genome.wustl.edu 37 18 13387562 13387562 + RNA SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 18 13387562 13387562 G A SNP LDLRAD4 ENST00000590371 human ensembl 70_37 +1 putative rna NULL NULL 0.007 - - - no_errors LDLRAD4 HGNC LETMD1 25875 genome.wustl.edu 37 12 51442167 51442167 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 51442167 51442167 C G SNP LETMD1 ENST00000262055 human ensembl 70_37 +1 known missense c.28 p.R10G 0.939 NULL pfam_LETM1 - no_errors LETMD1 HGNC LIMK1 3984 genome.wustl.edu 37 7 73530278 73530278 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 7 73530278 73530278 G C SNP LIMK1 ENST00000336180 human ensembl 70_37 +1 known missense c.1557 p.E519D 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC LIPJ 142910 genome.wustl.edu 37 10 90353745 90353745 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 10 90353745 90353745 C G SNP LIPJ ENST00000371939 human ensembl 70_37 +1 known missense c.173 p.S58C 1.000 pfam_AB_hydrolase_lipase pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPJ HGNC LPAR4 2846 genome.wustl.edu 37 X 78010489 78010489 + Silent SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 X 78010489 78010489 C G SNP LPAR4 ENST00000373301 human ensembl 70_37 +1 known silent c.123 p.L41 1.000 prints_GPCR_Rhodpsn,prints_P2Y5_purnocptor pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_P2Y5_purnocptor,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_7TM - no_errors LPAR4 HGNC LPXN 9404 genome.wustl.edu 37 11 58295017 58295017 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 11 58295017 58295017 G A SNP LPXN ENST00000528954 human ensembl 70_37 -1 known silent c.1086 p.F362 1.000 pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors LPXN HGNC LRRC43 254050 genome.wustl.edu 37 12 122685138 122685140 + In_Frame_Del DEL AAA AAA - TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 122685138 122685140 AAA - DEL LRRC43 ENST00000339777 human ensembl 70_37 +1 known in_frame_del c.1551_1553 p.K518in_frame_del 0.115:0.128:0.123 NULL NULL - no_errors LRRC43 HGNC LRRK2 120892 genome.wustl.edu 37 12 40699758 40699758 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 40699758 40699758 G C SNP LRRK2 ENST00000298910 human ensembl 70_37 +1 known missense c.3949 p.D1317H 1.000 NULL 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 LTBP4 8425 genome.wustl.edu 37 19 41120238 41120238 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 41120238 41120238 G C SNP LTBP4 ENST00000308370 human ensembl 70_37 +1 known missense c.2899 p.E967Q 0.443 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP4 HGNC MAD1L1 8379 genome.wustl.edu 37 7 1855475 1855475 + RNA SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 7 1855475 1855475 G C SNP MAD1L1 ENST00000468372 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MAD1L1 HGNC MAP9 79884 genome.wustl.edu 37 4 156276946 156276946 + Missense_Mutation SNP T T G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 4 156276946 156276946 T G SNP MAP9 ENST00000311277 human ensembl 70_37 -1 known missense c.1212 p.K404N 1.000 NULL NULL - no_errors MAP9 HGNC MDGA2 161357 genome.wustl.edu 37 14 47343356 47343356 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 14 47343356 47343356 G C SNP MDGA2 ENST00000399232 human ensembl 70_37 -1 known missense c.2485 p.Q829E 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA2 HGNC MGMT 4255 genome.wustl.edu 37 10 131565154 131565154 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 10 131565154 131565154 G C SNP MGMT ENST00000306010 human ensembl 70_37 +1 known missense c.610 p.G204R 0.933 pfam_MethylDNA_cys_MeTrfase_DNA-bd,superfamily_MethylDNA_cys_MeTrfase_DNA-bd pfam_MethylDNA_cys_MeTrfase_DNA-bd,pfam_MethylG_MeTrfase,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd - no_errors MGMT HGNC MIB1 57534 genome.wustl.edu 37 18 19418375 19418375 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 18 19418375 19418375 G A SNP MIB1 ENST00000261537 human ensembl 70_37 +1 known missense c.1879 p.E627K 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB1 HGNC MLLT4 4301 genome.wustl.edu 37 6 168370499 168370499 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 6 168370499 168370499 G A SNP MLLT4 ENST00000366806 human ensembl 70_37 +1 known missense c.5359 p.E1787K 1.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC MRPL9 65005 genome.wustl.edu 37 1 151735518 151735518 + Silent SNP C C A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 151735518 151735518 C A SNP MRPL9 ENST00000368830 human ensembl 70_37 -1 known silent c.258 p.T86 0.673 NULL pfam_Ribosomal_L9_N,superfamily_Ribosomal_L9/RNase_H1_N - no_errors MRPL9 HGNC MYO1H 283446 genome.wustl.edu 37 12 109877536 109877536 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 109877536 109877536 C T SNP MYO1H ENST00000431443 human ensembl 70_37 +1 known missense c.2377 p.H793Y 0.892 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1H HGNC MYO3A 53904 genome.wustl.edu 37 10 26417425 26417425 + Silent SNP A A G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 10 26417425 26417425 A G SNP MYO3A ENST00000265944 human ensembl 70_37 +1 known silent c.2220 p.Q740 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC MYO6 4646 genome.wustl.edu 37 6 76550344 76550344 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 6 76550344 76550344 G A SNP MYO6 ENST00000369981 human ensembl 70_37 +1 known missense c.596 p.R199H 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC NCAN 1463 genome.wustl.edu 37 19 19337411 19337411 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 19337411 19337411 G A SNP NCAN ENST00000252575 human ensembl 70_37 +1 known missense c.1189 p.E397K 0.030 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC NCAPH2 29781 genome.wustl.edu 37 22 50956041 50956041 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 22 50956041 50956041 G A SNP NCAPH2 ENST00000299821 human ensembl 70_37 +1 known missense c.302 p.R101K 0.000 pfam_Condensin_II_H2-like pfam_Condensin_II_H2-like - no_errors NCAPH2 HGNC NHS 4810 genome.wustl.edu 37 X 17744187 17744187 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 X 17744187 17744187 C T SNP NHS ENST00000380060 human ensembl 70_37 +1 known missense c.1898 p.S633F 1.000 NULL NULL - no_errors NHS HGNC OBSL1 23363 genome.wustl.edu 37 2 220428191 220428191 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 2 220428191 220428191 C G SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known missense c.2566 p.E856Q 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,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC OGFOD2 79676 genome.wustl.edu 37 12 123459828 123459828 + Silent SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 123459828 123459828 C T SNP OGFOD2 ENST00000228922 human ensembl 70_37 +1 known silent c.30 p.F10 1.000 NULL smart_Pro_4_hyd_alph - no_errors OGFOD2 HGNC OR1J2 26740 genome.wustl.edu 37 9 125273111 125273111 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 9 125273111 125273111 G C SNP OR1J2 ENST00000335302 human ensembl 70_37 +1 known missense c.31 p.E11Q 0.038 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J2 HGNC OR4N5 390437 genome.wustl.edu 37 14 20612227 20612227 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 14 20612227 20612227 G C SNP OR4N5 ENST00000333629 human ensembl 70_37 +1 known missense c.333 p.E111D 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N5 HGNC OR5M10 390167 genome.wustl.edu 37 11 56344838 56344838 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 11 56344838 56344838 C G SNP OR5M10 ENST00000526812 human ensembl 70_37 -1 known missense c.360 p.L120F 0.101 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M10 HGNC PCDH1 5097 genome.wustl.edu 37 5 141243774 141243774 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 5 141243774 141243774 C T SNP PCDH1 ENST00000287008 human ensembl 70_37 -1 known missense c.2122 p.E708K 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC PCDH15 65217 genome.wustl.edu 37 10 56089395 56089395 + Silent SNP A A G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 10 56089395 56089395 A G SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known silent c.666 p.Y222 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC PCDH20 64881 genome.wustl.edu 37 13 61987728 61987728 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 13 61987728 61987728 G A SNP PCDH20 ENST00000409186 human ensembl 70_37 -1 known silent c.504 p.I168 0.979 pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC PCDHA3 56145 genome.wustl.edu 37 5 140182427 140182427 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 5 140182427 140182427 G A SNP PCDHA3 ENST00000522353 human ensembl 70_37 +1 known missense c.1645 p.V549M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA3 HGNC PCGF3 10336 genome.wustl.edu 37 4 758843 758843 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 4 758843 758843 G T SNP PCGF3 ENST00000362003 human ensembl 70_37 +1 known missense c.672 p.W224C 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF3 HGNC PCNX 22990 genome.wustl.edu 37 14 71489920 71489920 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 14 71489920 71489920 G T SNP PCNX ENST00000304743 human ensembl 70_37 +1 known missense c.3154 p.V1052F 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC PDE1B 5153 genome.wustl.edu 37 12 54960780 54960780 + Silent SNP T T C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 54960780 54960780 T C SNP PDE1B ENST00000243052 human ensembl 70_37 +1 known silent c.136 p.L46 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1B HGNC PDE6B 5158 genome.wustl.edu 37 4 657639 657639 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 4 657639 657639 G A SNP PDE6B ENST00000496514 human ensembl 70_37 +1 known silent c.2001 p.T667 0.014 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC PDXK 8566 genome.wustl.edu 37 21 45176059 45176059 + RNA SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 21 45176059 45176059 C T SNP PDXK ENST00000343528 human ensembl 70_37 +1 known rna NULL NULL 0.250 - - - no_errors PDXK HGNC PHYHIP 9796 genome.wustl.edu 37 8 22085783 22085783 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 8 22085783 22085783 C T SNP PHYHIP ENST00000454243 human ensembl 70_37 -1 known missense c.88 p.D30N 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIP HGNC PIP5K1A 8394 genome.wustl.edu 37 1 151220422 151220422 + Nonstop_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 151220422 151220422 G C SNP PIP5K1A ENST00000414290 human ensembl 70_37 +1 known nonstop c.596 p.*199S 0.998 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1A HGNC POLR3G 10622 genome.wustl.edu 37 5 89781433 89781433 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 5 89781433 89781433 G C SNP POLR3G ENST00000399107 human ensembl 70_37 +1 known missense c.49 p.E17Q 1.000 pfam_RNA_pol_III_Rpc31 pfam_RNA_pol_III_Rpc31 - no_errors POLR3G HGNC POPDC3 64208 genome.wustl.edu 37 6 105607617 105607617 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 6 105607617 105607617 G A SNP POPDC3 ENST00000254765 human ensembl 70_37 -1 known missense c.563 p.S188L 1.000 pfam_Popeye_prot,superfamily_cNMP-bd-like pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC3 HGNC POPDC3 64208 genome.wustl.edu 37 6 105607618 105607618 + Missense_Mutation SNP A A T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 6 105607618 105607618 A T SNP POPDC3 ENST00000254765 human ensembl 70_37 -1 known missense c.562 p.S188T 1.000 pfam_Popeye_prot,superfamily_cNMP-bd-like pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC3 HGNC PPY2 23614 genome.wustl.edu 37 17 26575172 26575172 + RNA SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 17 26575172 26575172 C G SNP PPY2 ENST00000583761 human ensembl 70_37 +1 known rna NULL NULL 0.277 - - - no_errors PPY2 HGNC PRDM15 63977 genome.wustl.edu 37 21 43231133 43231133 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 21 43231133 43231133 C G SNP PRDM15 ENST00000269844 human ensembl 70_37 -1 known missense c.3550 p.E1184Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC PRDM15 63977 genome.wustl.edu 37 21 43231143 43231143 + Missense_Mutation SNP C C A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 21 43231143 43231143 C A SNP PRDM15 ENST00000269844 human ensembl 70_37 -1 known missense c.3540 p.R1180S 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC PRKAR2A 5576 genome.wustl.edu 37 3 48884906 48884906 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 3 48884906 48884906 C T SNP PRKAR2A ENST00000265563 human ensembl 70_37 -1 known missense c.124 p.E42K 1.000 pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR2A HGNC PRPF38A 84950 genome.wustl.edu 37 1 52878201 52878201 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 52878201 52878201 G C SNP PRPF38A ENST00000257181 human ensembl 70_37 +1 known missense c.514 p.E172Q 1.000 pfam_PRP38 pfam_PRP38 - no_errors PRPF38A HGNC PSMG1 8624 genome.wustl.edu 37 21 40550497 40550497 + Nonsense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 21 40550497 40550497 G C SNP PSMG1 ENST00000331573 human ensembl 70_37 -1 known nonsense c.533 p.S178* 0.945 pirsf_Proteasome_assmbl_chp_1 pirsf_Proteasome_assmbl_chp_1 - no_errors PSMG1 HGNC PTEN 5728 genome.wustl.edu 37 10 89653925 89653925 + RNA SNP C C A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 10 89653925 89653925 C A SNP PTEN ENST00000462694 human ensembl 70_37 +1 known rna NULL NULL 0.244 - - - no_errors PTEN HGNC PTPRM 5797 genome.wustl.edu 37 18 8296421 8296421 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 18 8296421 8296421 G C SNP PTPRM ENST00000400060 human ensembl 70_37 +1 known missense c.2813 p.R938T 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC PVRL4 81607 genome.wustl.edu 37 1 161043069 161043069 + Silent SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 161043069 161043069 C G SNP PVRL4 ENST00000368012 human ensembl 70_37 -1 known silent c.1254 p.L418 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PVRL4 HGNC PYROXD2 84795 genome.wustl.edu 37 10 100150489 100150489 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 10 100150489 100150489 G T SNP PYROXD2 ENST00000370575 human ensembl 70_37 -1 known missense c.1158 p.S386R 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase - no_errors PYROXD2 HGNC RBMS1 5937 genome.wustl.edu 37 2 161130979 161130982 + RNA DEL TTTC TTTC - TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 TTTC TTTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 2 161130979 161130982 TTTC - DEL RBMS1 ENST00000474820 human ensembl 70_37 -1 known rna NULL NULL 0.121:0.138:0.129:0.057 - - - no_errors RBMS1 HGNC RBP3 5949 genome.wustl.edu 37 10 48388081 48388081 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 10 48388081 48388081 G A SNP RBP3 ENST00000224600 human ensembl 70_37 -1 known silent c.2797 p.L933 0.997 NULL pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC RECQL 5965 genome.wustl.edu 37 12 21624448 21624448 + Silent SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 21624448 21624448 C T SNP RECQL ENST00000421138 human ensembl 70_37 -1 known silent c.1581 p.L527 0.040 pfam_RQC_domain,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC RNF146 81847 genome.wustl.edu 37 6 127608557 127608557 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 6 127608557 127608557 G C SNP RNF146 ENST00000368314 human ensembl 70_37 +1 known missense c.799 p.E267Q 1.000 NULL pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING - no_errors RNF146 HGNC RNF220 55182 genome.wustl.edu 37 1 45115222 45115222 + RNA SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 45115222 45115222 G C SNP RNF220 ENST00000474956 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RNF220 HGNC RTL1 388015 genome.wustl.edu 37 14 101347453 101347453 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 14 101347453 101347453 C T SNP RTL1 ENST00000534062 human ensembl 70_37 -1 known missense c.3673 p.V1225I 0.211 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC SALL4 57167 genome.wustl.edu 37 20 50406888 50406888 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 20 50406888 50406888 G A SNP SALL4 ENST00000217086 human ensembl 70_37 -1 known missense c.2134 p.L712F 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC SEC16A 9919 genome.wustl.edu 37 9 139370924 139370924 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 9 139370924 139370924 C G SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known missense c.1144 p.E382Q 1.000 NULL NULL - no_errors SEC16A HGNC SEC16A 9919 genome.wustl.edu 37 9 139371510 139371510 + Silent SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 9 139371510 139371510 C T SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known silent c.558 p.L186 0.001 NULL NULL - no_errors SEC16A HGNC SH3TC1 54436 genome.wustl.edu 37 4 8239286 8239286 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 4 8239286 8239286 C G SNP SH3TC1 ENST00000245105 human ensembl 70_37 +1 known missense c.3642 p.F1214L 1.000 smart_TPR_repeat superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC SHMT1 6470 genome.wustl.edu 37 17 18250855 18250855 + Nonsense_Mutation SNP C C A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 17 18250855 18250855 C A SNP SHMT1 ENST00000580002 human ensembl 70_37 -1 known nonsense c.358 p.E120* 1.000 pfscan_Josephin pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom,pfscan_Josephin - no_errors SHMT1 HGNC SI 6476 genome.wustl.edu 37 3 164741481 164741481 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 3 164741481 164741481 G A SNP SI ENST00000264382 human ensembl 70_37 -1 known silent c.2976 p.S992 0.015 superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC SLC23A3 151295 genome.wustl.edu 37 2 220029972 220029972 + Silent SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 2 220029972 220029972 G C SNP SLC23A3 ENST00000455516 human ensembl 70_37 -1 known silent c.1110 p.G370 1.000 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A3 HGNC SLC23A3 151295 genome.wustl.edu 37 2 220030095 220030095 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 2 220030095 220030095 G C SNP SLC23A3 ENST00000455516 human ensembl 70_37 -1 known missense c.987 p.I329M 0.993 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A3 HGNC SLC35G2 80723 genome.wustl.edu 37 3 136573486 136573486 + Frame_Shift_Del DEL A A - TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 3 136573486 136573486 A - DEL SLC35G2 ENST00000393079 human ensembl 70_37 +1 known frame_shift_del c.184 p.66fs 1.000 NULL pfam_DMT - no_errors SLC35G2 HGNC SNHG14 0 genome.wustl.edu 37 15 25442572 25442572 + RNA SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 15 25442572 25442572 G A SNP SNHG14 ENST00000424208 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC SNX27 81609 genome.wustl.edu 37 1 151641005 151641005 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 151641005 151641005 C T SNP SNX27 ENST00000368843 human ensembl 70_37 +1 known missense c.1043 p.S348L 1.000 pfam_Ras-assoc,pfscan_Ras-assoc pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX27 HGNC SOCS3 9021 genome.wustl.edu 37 17 76354877 76354878 + Frame_Shift_Ins INS - - C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 17 76354877 76354878 - C INS SOCS3 ENST00000330871 human ensembl 70_37 -1 known frame_shift_ins c.300_299 p.S101fs 1.000:1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC SPATA16 83893 genome.wustl.edu 37 3 172634172 172634172 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 3 172634172 172634172 G C SNP SPATA16 ENST00000351008 human ensembl 70_37 -1 known missense c.1438 p.Q480E 1.000 NULL NULL - no_errors SPATA16 HGNC SPATA31A6 389730 genome.wustl.edu 37 9 43627712 43627712 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 9 43627712 43627712 C G SNP SPATA31A6 ENST00000332857 human ensembl 70_37 -1 known missense c.975 p.Q325H 0.028 NULL NULL - no_errors SPATA31A6 HGNC SPG11 80208 genome.wustl.edu 37 15 44864782 44864782 + RNA SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 15 44864782 44864782 G C SNP SPG11 ENST00000559347 human ensembl 70_37 -1 known rna NULL NULL 0.793 - - - no_errors SPG11 HGNC SPG11 80208 genome.wustl.edu 37 15 44864783 44864783 + RNA SNP A A T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 15 44864783 44864783 A T SNP SPG11 ENST00000559347 human ensembl 70_37 -1 known rna NULL NULL 0.813 - - - no_errors SPG11 HGNC STAC2 342667 genome.wustl.edu 37 17 37371404 37371404 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 17 37371404 37371404 G T SNP STAC2 ENST00000333461 human ensembl 70_37 -1 known missense c.666 p.F222L 1.000 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox - no_errors STAC2 HGNC STYXL1 51657 genome.wustl.edu 37 7 75633094 75633094 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 7 75633094 75633094 G T SNP STYXL1 ENST00000248600 human ensembl 70_37 -1 known missense c.679 p.H227N 0.969 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors STYXL1 HGNC SVIL 6840 genome.wustl.edu 37 10 29822309 29822309 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 10 29822309 29822309 C G SNP SVIL ENST00000355867 human ensembl 70_37 -1 known missense c.987 p.Q329H 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors SVIL HGNC SYDE1 85360 genome.wustl.edu 37 19 15224540 15224540 + Silent SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 15224540 15224540 C T SNP SYDE1 ENST00000342784 human ensembl 70_37 +1 known silent c.1974 p.C658 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC SYTL2 54843 genome.wustl.edu 37 11 85438776 85438776 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 11 85438776 85438776 G A SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known missense c.296 p.P99L 0.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC SZT2 23334 genome.wustl.edu 37 1 43914344 43914344 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 43914344 43914344 G A SNP SZT2 ENST00000562955 human ensembl 70_37 +1 known missense c.9860 p.R3287H 1.000 NULL NULL - no_errors SZT2 HGNC T 6862 genome.wustl.edu 37 6 166580885 166580885 + Silent SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 6 166580885 166580885 G C SNP T ENST00000296946 human ensembl 70_37 -1 known silent c.195 p.T65 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury,prints_TF_T-box - no_errors T HGNC TAF1 6872 genome.wustl.edu 37 X 70683738 70683738 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 X 70683738 70683738 G A SNP TAF1 ENST00000449580 human ensembl 70_37 +1 known missense c.5563 p.G1855S 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC TANK 10010 genome.wustl.edu 37 2 162087928 162087928 + Missense_Mutation SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 2 162087928 162087928 C G SNP TANK ENST00000259075 human ensembl 70_37 +1 known missense c.967 p.L323V 0.721 NULL NULL - no_errors TANK HGNC TAS2R38 5726 genome.wustl.edu 37 7 141672740 141672740 + Silent SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 7 141672740 141672740 G T SNP TAS2R38 ENST00000547270 human ensembl 70_37 -1 known silent c.750 p.V250 0.217 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R38 HGNC TBC1D23 55773 genome.wustl.edu 37 3 100039736 100039736 + Frame_Shift_Del DEL A A - TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 3 100039736 100039736 A - DEL TBC1D23 ENST00000394144 human ensembl 70_37 +1 known frame_shift_del c.1939 p.K649fs 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC TEX14 56155 genome.wustl.edu 37 17 56650643 56650643 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 17 56650643 56650643 G C SNP TEX14 ENST00000240361 human ensembl 70_37 -1 known missense c.3548 p.S1183C 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors TEX14 HGNC TGM2 7052 genome.wustl.edu 37 20 36789841 36789841 + Silent SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 20 36789841 36789841 G T SNP TGM2 ENST00000361475 human ensembl 70_37 -1 known silent c.171 p.L57 0.906 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC THADA 63892 genome.wustl.edu 37 2 43571336 43571336 + Missense_Mutation SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 2 43571336 43571336 C T SNP THADA ENST00000405006 human ensembl 70_37 -1 known missense c.4268 p.G1423E 0.932 NULL pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC TIMM8A 1678 genome.wustl.edu 37 X 100603704 100603704 + RNA SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 X 100603704 100603704 C T SNP TIMM8A ENST00000480575 human ensembl 70_37 -1 known rna NULL NULL 0.978 - - - no_errors TIMM8A HGNC TP63 8626 genome.wustl.edu 37 3 189612142 189612142 + Nonsense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 3 189612142 189612142 G T SNP TP63 ENST00000264731 human ensembl 70_37 +1 known nonsense c.1894 p.E632* 1.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC TPRX1 284355 genome.wustl.edu 37 19 48305209 48305209 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 48305209 48305209 G A SNP TPRX1 ENST00000535759 human ensembl 70_37 -1 known silent c.1350 p.F450 0.002 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TPRX1 HGNC TRAF2 7186 genome.wustl.edu 37 9 139818343 139818343 + Missense_Mutation SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 9 139818343 139818343 G A SNP TRAF2 ENST00000359662 human ensembl 70_37 +1 known missense c.1334 p.R445H 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF2 HGNC TRAPPC4 51399 genome.wustl.edu 37 11 118895677 118895677 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 11 118895677 118895677 G T SNP TRAPPC4 ENST00000533058 human ensembl 70_37 +1 putative missense c.692 p.R231I 1.000 NULL pfam_Sybindin,pfam_Sedlin,superfamily_Longin-like_dom - no_errors TRAPPC4 HGNC TRPM4 54795 genome.wustl.edu 37 19 49713652 49713652 + Silent SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 49713652 49713652 C T SNP TRPM4 ENST00000252826 human ensembl 70_37 +1 known silent c.3318 p.L1106 0.000 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC TSC2 7249 genome.wustl.edu 37 16 2111884 2111884 + Missense_Mutation SNP C C A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 16 2111884 2111884 C A SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known missense c.1132 p.P378T 1.000 pfam_Tuberin_N,superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC TTN 7273 genome.wustl.edu 37 2 179399219 179399219 + Silent SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 2 179399219 179399219 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.94419 p.E31473 0.887 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom 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 UHRF1BP1 54887 genome.wustl.edu 37 6 34831951 34831951 + Missense_Mutation SNP A A T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 6 34831951 34831951 A T SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known missense c.3388 p.S1130C 0.307 NULL NULL - no_errors UHRF1BP1 HGNC UMODL1 89766 genome.wustl.edu 37 21 43531075 43531075 + Silent SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 21 43531075 43531075 C T SNP UMODL1 ENST00000408989 human ensembl 70_37 +1 known silent c.1743 p.L581 0.000 NULL pfam_ZP_dom,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC UNC13C 440279 genome.wustl.edu 37 15 54817750 54817750 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 15 54817750 54817750 G C SNP UNC13C ENST00000260323 human ensembl 70_37 +1 known missense c.5461 p.D1821H 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC VPS72 6944 genome.wustl.edu 37 1 151150622 151150622 + Splice_Site SNP C C T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 151150622 151150622 C T SNP VPS72 ENST00000368892 human ensembl 70_37 -1 known splice_site c.563-1 e5-1 1.000 - - - no_errors VPS72 HGNC WDR66 144406 genome.wustl.edu 37 12 122359395 122359397 + In_Frame_Del DEL GGG GGG - TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 GGG GGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 122359395 122359397 GGG - DEL WDR66 ENST00000288912 human ensembl 70_37 +1 known in_frame_del c.184_186 p.G62in_frame_del 0.000:0.000:0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC WIPF2 147179 genome.wustl.edu 37 17 38421118 38421118 + Silent SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 17 38421118 38421118 C G SNP WIPF2 ENST00000323571 human ensembl 70_37 +1 known silent c.690 p.V230 0.065 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF2 HGNC XKR3 150165 genome.wustl.edu 37 22 17265193 17265193 + Silent SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 22 17265193 17265193 C G SNP XKR3 ENST00000331428 human ensembl 70_37 -1 known silent c.696 p.P232 0.006 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR3 HGNC XKR9 389668 genome.wustl.edu 37 8 71593475 71593475 + Missense_Mutation SNP C C A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 8 71593475 71593475 C A SNP XKR9 ENST00000408926 human ensembl 70_37 +1 known missense c.182 p.S61Y 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR9 HGNC YARS2 51067 genome.wustl.edu 37 12 32906904 32906904 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 12 32906904 32906904 G C SNP YARS2 ENST00000324868 human ensembl 70_37 -1 known missense c.895 p.P299A 1.000 pfam_aa-tRNA-synth_Ic,tigrfam_Tyr-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase - no_errors YARS2 HGNC ZC3H11A 9877 genome.wustl.edu 37 1 203771246 203771246 + RNA SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 1 203771246 203771246 C G SNP ZC3H11A ENST00000461980 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZC3H11A HGNC ZNF134 7693 genome.wustl.edu 37 19 58132365 58132365 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 58132365 58132365 G T SNP ZNF134 ENST00000396161 human ensembl 70_37 +1 known missense c.878 p.C293F 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF134 HGNC ZNF34 80778 genome.wustl.edu 37 8 145998848 145998848 + Silent SNP G G A TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 8 145998848 145998848 G A SNP ZNF34 ENST00000343459 human ensembl 70_37 -1 known silent c.1486 p.L496 0.000 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 ZNF34 HGNC ZNF534 147658 genome.wustl.edu 37 19 52941496 52941496 + Missense_Mutation SNP G G C TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 19 52941496 52941496 G C SNP ZNF534 ENST00000332323 human ensembl 70_37 +1 known missense c.822 p.Q274H 0.413 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 ZNF534 HGNC ZNF733P 643955 genome.wustl.edu 37 7 62752248 62752248 + RNA SNP C C G TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d669929-58fc-40ed-a627-87bb4daa1425 cbc3126b-456f-4b3a-8364-7c42eb48d5a4 7 62752248 62752248 C G SNP ZNF733P ENST00000331425 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF733P HGNC