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 ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCA12 0 genome.wustl.edu 37 2 215823130 215823130 + Silent SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 2 215823130 215823130 G T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.5988 p.G1996 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 78 0 0.00 50 16 24.24 ABCC2 0 genome.wustl.edu 37 10 101556999 101556999 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 10 101556999 101556999 C T SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.778 p.R260W 0.285 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 tier1 - - 53 0 0.00 32 20 38.46 ACTG2 0 genome.wustl.edu 37 2 74128460 74128460 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 2 74128460 74128460 G A SNP ACTG2 ENST00000345517 human ensembl 74_37 +1 known missense c.22 p.A8T 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTG2 HGNC ENSG00000163017 tier1 - - 71 0 0.00 41 12 22.64 ADAD1 0 genome.wustl.edu 37 4 123301348 123301348 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 4 123301348 123301348 G A SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known missense c.124 p.E42K 0.986 NULL pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 tier1 - - 120 0 0.00 68 19 21.84 ADAMTS19 0 genome.wustl.edu 37 5 129070703 129070703 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 5 129070703 129070703 G A SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.3373 p.E1125K 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 tier1 - - 112 0 0.00 88 15 14.56 ADCY10 0 genome.wustl.edu 37 1 167830176 167830176 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 167830176 167830176 C T SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known missense c.1742 p.R581Q 0.026 superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 tier1 - - 126 0 0.00 81 20 19.80 AFF2 0 genome.wustl.edu 37 X 147744269 147744269 + Missense_Mutation SNP A A G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 147744269 147744269 A G SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.1021 p.T341A 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 tier1 - - 42 0 0.00 24 10 29.41 ANKRD30B 0 genome.wustl.edu 37 18 14787072 14787072 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 18 14787072 14787072 C T SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known silent c.1707 p.D569 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 tier1 - - 44 0 0.00 34 6 15.00 ANKS1A 0 genome.wustl.edu 37 6 34949611 34949611 + Nonsense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 6 34949611 34949611 C T SNP ANKS1A ENST00000360359 human ensembl 74_37 +1 known nonsense c.580 p.R194* 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 tier1 - - 134 0 0.00 80 11 12.09 ASCC3 0 genome.wustl.edu 37 6 101095278 101095278 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 6 101095278 101095278 C T SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.3302 p.R1101H 0.998 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 tier1 - - 92 0 0.00 85 20 19.05 BNIP3P1 0 genome.wustl.edu 37 14 28734125 28734125 + RNA SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 14 28734125 28734125 C T SNP BNIP3P1 ENST00000550043 human ensembl 74_37 +1 known rna NULL NULL 0.858 - - - no_errors BNIP3P1 HGNC ENSG00000197358 tier1 - - 93 0 0.00 81 9 10.00 BRWD3 0 genome.wustl.edu 37 X 79942372 79942372 + Missense_Mutation SNP A A C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 79942372 79942372 A C SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known missense c.3995 p.L1332R 0.849 superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 tier1 - - 46 0 0.00 29 8 21.62 C1QTNF5 0 genome.wustl.edu 37 11 119210189 119210190 + Frame_Shift_Ins INS - - C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 11 119210189 119210190 - C INS C1QTNF5 ENST00000445041 human ensembl 74_37 -1 known frame_shift_ins c.584_583 p.A195fs 1.000:0.976 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF5 HGNC ENSG00000223953 tier1 121 0 0.00 51 12 19.05 C8A 0 genome.wustl.edu 37 1 57351732 57351732 + Missense_Mutation SNP T T C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 57351732 57351732 T C SNP C8A ENST00000361249 human ensembl 74_37 +1 known missense c.988 p.Y330H 1.000 pfam_MACPF,smart_MACPF,prints_MAC_perforin pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8A HGNC ENSG00000157131 tier1 - - 87 0 0.00 72 6 7.69 C8G 0 genome.wustl.edu 37 9 139840619 139840619 + Silent SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 9 139840619 139840619 G A SNP C8G ENST00000224181 human ensembl 74_37 +1 known silent c.429 p.A143 0.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_A1-microglobln,prints_Lipocalin - no_errors C8G HGNC ENSG00000176919 tier1 - - 61 0 0.00 40 13 24.53 CACNA1H 0 genome.wustl.edu 37 16 1251724 1251724 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 16 1251724 1251724 C T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.1274 p.T425M 0.998 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 tier1 - - 33 0 0.00 26 7 21.21 CALD1 0 genome.wustl.edu 37 7 134552501 134552501 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 7 134552501 134552501 G A SNP CALD1 ENST00000361388 human ensembl 74_37 +1 known missense c.17 p.R6H 1.000 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 tier1 - - 26 0 0.00 15 9 37.50 CAPNS1 0 genome.wustl.edu 37 19 36633605 36633605 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 19 36633605 36633605 C T SNP CAPNS1 ENST00000588780 human ensembl 74_37 +1 known missense c.295 p.R99W 0.396 NULL pfscan_EF_hand_dom - no_errors CAPNS1 HGNC ENSG00000126247 tier1 - - 185 0 0.00 92 24 20.69 CDH2 0 genome.wustl.edu 37 18 25616486 25616486 + Silent SNP A A G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 18 25616486 25616486 A G SNP CDH2 ENST00000399380 human ensembl 74_37 -1 novel silent c.27 p.C9 0.035 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 tier1 - - 172 0 0.00 67 10 12.99 CDKN2A 0 genome.wustl.edu 37 9 21971138 21971138 + Missense_Mutation SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 9 21971138 21971138 C A SNP CDKN2A ENST00000361570 human ensembl 74_37 -1 known missense c.386 p.R129L 1.000 NULL pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC ENSG00000147889 tier1 - - 19 0 0.00 14 6 30.00 CDR1 0 genome.wustl.edu 37 X 139865920 139865920 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 139865920 139865920 C T SNP CDR1 ENST00000370532 human ensembl 74_37 -1 known silent c.612 p.K204 1.000 NULL NULL - no_errors CDR1 HGNC ENSG00000184258 tier1 - - 122 0 0.00 84 22 20.75 CLUAP1 0 genome.wustl.edu 37 16 3573209 3573209 + Missense_Mutation SNP G G C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 16 3573209 3573209 G C SNP CLUAP1 ENST00000576634 human ensembl 74_37 +1 known missense c.765 p.Q255H 0.993 pfam_Clusterin-associated_protein-1 pfam_Clusterin-associated_protein-1,superfamily_CH-domain - no_errors CLUAP1 HGNC ENSG00000103351 tier1 rs150154906 - 68 0 0.00 30 12 28.57 COBL 0 genome.wustl.edu 37 7 51203910 51203910 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 7 51203910 51203910 C T SNP COBL ENST00000395542 human ensembl 74_37 -1 known missense c.977 p.R326Q 0.993 pfam_Cordon-bleu_ubiquitin_domain pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 tier1 - - 75 0 0.00 97 9 8.49 COL11A1 0 genome.wustl.edu 37 1 103428237 103428237 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 103428237 103428237 G A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.3032 p.P1011L 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 138 0 0.00 80 21 20.79 COL15A1 0 genome.wustl.edu 37 9 101749583 101749583 + Missense_Mutation SNP T T G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 9 101749583 101749583 T G SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known missense c.656 p.L219R 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 tier1 - - 314 0 0.00 220 32 12.70 COL4A1 0 genome.wustl.edu 37 13 110835554 110835554 + Missense_Mutation SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 13 110835554 110835554 G T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.1967 p.S656Y 0.072 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 tier1 - - 60 0 0.00 38 9 19.15 COL4A2 0 genome.wustl.edu 37 13 111130506 111130506 + Missense_Mutation SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 13 111130506 111130506 G T SNP COL4A2 ENST00000360467 human ensembl 74_37 +1 known missense c.2582 p.R861L 0.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 tier1 - - 27 0 0.00 16 4 20.00 COL5A2 0 genome.wustl.edu 37 2 189933587 189933587 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 2 189933587 189933587 C T SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known silent c.1182 p.A394 0.006 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 tier1 rs148229627 - 58 0 0.00 46 8 14.81 COLEC12 0 genome.wustl.edu 37 18 347195 347195 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 18 347195 347195 C T SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known missense c.427 p.G143R 0.997 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 tier1 - - 147 0 0.00 113 37 24.67 CTC1 0 genome.wustl.edu 37 17 8139248 8139248 + Silent SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 17 8139248 8139248 G A SNP CTC1 ENST00000315684 human ensembl 74_37 -1 known silent c.1107 p.P369 0.251 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 tier1 - - 69 0 0.00 41 22 34.92 CYFIP1 0 genome.wustl.edu 37 15 22954298 22954298 + Missense_Mutation SNP C C G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 15 22954298 22954298 C G SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known missense c.1448 p.A483G 0.885 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 tier1 - - 104 0 0.00 81 21 20.59 CYLC1 0 genome.wustl.edu 37 X 83128280 83128280 + Silent SNP T T C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 83128280 83128280 T C SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known silent c.564 p.S188 0.000 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 tier1 - - 29 0 0.00 25 6 19.35 DDR2 0 genome.wustl.edu 37 1 162740150 162740150 + Missense_Mutation SNP C C G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 162740150 162740150 C G SNP DDR2 ENST00000367921 human ensembl 74_37 +1 known missense c.1352 p.S451C 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 tier1 - - 180 0 0.00 130 11 7.80 DHX8 0 genome.wustl.edu 37 17 41590761 41590761 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 17 41590761 41590761 C T SNP DHX8 ENST00000262415 human ensembl 74_37 +1 known missense c.2534 p.S845L 0.999 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 tier1 - - 123 0 0.00 90 5 5.26 DNAH3 0 genome.wustl.edu 37 16 21073961 21073961 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 16 21073961 21073961 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.3562 p.E1188K 1.000 pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 57 0 0.00 56 8 12.31 DNAH5 0 genome.wustl.edu 37 5 13830781 13830781 + Missense_Mutation SNP A A T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 5 13830781 13830781 A T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.5986 p.C1996S 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 82 0 0.00 203 20 8.97 DNM1P47 0 genome.wustl.edu 37 15 102312241 102312241 + RNA DEL A A - TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 15 102312241 102312241 A - DEL DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 27 0 0.00 16 2 11.11 DOCK10 0 genome.wustl.edu 37 2 225670000 225670000 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 2 225670000 225670000 C T SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.3974 p.R1325Q 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 tier1 - - 150 0 0.00 116 19 14.07 DSCAM 0 genome.wustl.edu 37 21 41551011 41551011 + Missense_Mutation SNP A A C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 21 41551011 41551011 A C SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.2790 p.D930E 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 - - 88 0 0.00 50 8 13.79 DSEL 0 genome.wustl.edu 37 18 65180462 65180462 + Missense_Mutation SNP T T G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 18 65180462 65180462 T G SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.1414 p.S472R 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 - - 102 0 0.00 43 18 29.51 DST 0 genome.wustl.edu 37 6 56494187 56494187 + Nonsense_Mutation SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 6 56494187 56494187 C A SNP DST ENST00000370754 human ensembl 74_37 -1 known nonsense c.4237 p.E1413* 1.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 69 0 0.00 46 12 20.69 EFHC2 0 genome.wustl.edu 37 X 44109617 44109617 + Frame_Shift_Del DEL G G - TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 44109617 44109617 G - DEL EFHC2 ENST00000420999 human ensembl 74_37 -1 known frame_shift_del c.681 p.K228fs 0.997 smart_Uncharacterised_DM10 pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom - no_errors EFHC2 HGNC ENSG00000183690 tier1 30 0 0.00 21 2 8.70 ENSG00000258876 0 genome.wustl.edu 37 14 76437866 76437866 + RNA SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 14 76437866 76437866 C T SNP ENSG00000258876 ENST00000553732 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-270M14.5 Clone_based_vega_gene ENSG00000258876 tier1 - - 27 0 0.00 21 6 22.22 ENSG00000266156 0 genome.wustl.edu 37 19 20988369 20988370 + RNA INS - - T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 19 20988369 20988370 - T INS ENSG00000266156 ENST00000582722 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.001 - - - no_errors AC010329.1 Clone_based_ensembl_gene ENSG00000266156 tier1 16 0 0.00 16 3 15.79 FAM153C 0 genome.wustl.edu 37 5 177468735 177468735 + Missense_Mutation SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 5 177468735 177468735 G T SNP FAM153C ENST00000507848 human ensembl 74_37 +1 known missense c.175 p.V59F 0.000 prints_FAM153 prints_FAM153 - no_errors FAM153C HGNC ENSG00000204677 tier1 - - 160 0 0.00 121 34 21.94 FGF9 0 genome.wustl.edu 37 13 22246137 22246137 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 13 22246137 22246137 G A SNP FGF9 ENST00000382353 human ensembl 74_37 +1 known missense c.86 p.S29N 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF9 HGNC ENSG00000102678 tier1 - - 120 0 0.00 87 22 20.18 FHOD1 0 genome.wustl.edu 37 16 67267852 67267852 + Frame_Shift_Del DEL G G - TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 16 67267852 67267852 G - DEL FHOD1 ENST00000258201 human ensembl 74_37 -1 known frame_shift_del c.1754 p.P585fs 1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 tier1 24 0 0.00 27 2 6.90 GART 0 genome.wustl.edu 37 21 34889832 34889832 + Missense_Mutation SNP C C G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 21 34889832 34889832 C G SNP GART ENST00000381815 human ensembl 74_37 -1 known missense c.1786 p.D596H 0.491 superfamily_PurM_N-like,tigrfam_PurM_cligase pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 tier1 - - 204 0 0.00 108 37 25.52 GLTSCR1 0 genome.wustl.edu 37 19 48197890 48197891 + Frame_Shift_Ins INS - - C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 19 48197890 48197891 - C INS GLTSCR1 ENST00000396720 human ensembl 74_37 +1 known frame_shift_ins c.2802_2803 p.P937fs 0.044:0.226 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 tier1 44 0 0.00 35 8 18.60 GPR101 0 genome.wustl.edu 37 X 136113448 136113448 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 136113448 136113448 C T SNP GPR101 ENST00000298110 human ensembl 74_37 -1 known missense c.386 p.R129H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 tier1 - - 31 0 0.00 25 6 19.35 GPR137B 0 genome.wustl.edu 37 1 236306034 236306034 + Frame_Shift_Del DEL C C - TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 236306034 236306034 C - DEL GPR137B ENST00000366592 human ensembl 74_37 +1 known frame_shift_del c.112 p.Y40fs 1.000 NULL NULL - no_errors GPR137B HGNC ENSG00000077585 tier1 40 0 0.00 25 2 7.41 GPR139 0 genome.wustl.edu 37 16 20043340 20043340 + Missense_Mutation SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 16 20043340 20043340 C A SNP GPR139 ENST00000570682 human ensembl 74_37 -1 known missense c.779 p.R260L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR139 HGNC ENSG00000180269 tier1 - - 95 0 0.00 69 13 15.85 GTF3C3 0 genome.wustl.edu 37 2 197631305 197631305 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 2 197631305 197631305 G A SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known missense c.2522 p.P841L 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 tier1 - - 97 0 0.00 64 8 11.11 HGFAC 0 genome.wustl.edu 37 4 3443800 3443800 + Silent SNP G G C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 4 3443800 3443800 G C SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known silent c.72 p.L24 0.998 pirsf_Coagulation_fac_XIIa/HGFA pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 tier1 - - 77 0 0.00 57 5 8.06 HIVEP2 0 genome.wustl.edu 37 6 143074667 143074667 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 6 143074667 143074667 C T SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.6918 p.M2306I 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 tier1 - - 135 0 0.00 83 36 30.25 HOOK3 0 genome.wustl.edu 37 8 42823234 42823234 + Silent SNP A A G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 42823234 42823234 A G SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known silent c.999 p.L333 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 tier1 - - 59 0 0.00 55 8 12.70 HOOK3 0 genome.wustl.edu 37 8 42852738 42852738 + Missense_Mutation SNP A A C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 42852738 42852738 A C SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known missense c.1578 p.E526D 0.980 pfam_Hook-related_fam,superfamily_t-SNARE pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 tier1 - - 36 0 0.00 24 85 77.98 HOOK3 0 genome.wustl.edu 37 8 42852746 42852746 + Missense_Mutation SNP A A T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 42852746 42852746 A T SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known missense c.1586 p.K529I 1.000 pfam_Hook-related_fam,superfamily_t-SNARE pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 tier1 - - 35 0 0.00 26 73 73.74 IGF2BP2 0 genome.wustl.edu 37 3 185414363 185414363 + RNA SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 3 185414363 185414363 C A SNP IGF2BP2 ENST00000466476 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors IGF2BP2 HGNC ENSG00000073792 tier1 - - 84 0 0.00 49 7 12.50 JAM2 0 genome.wustl.edu 37 21 27086965 27086965 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 21 27086965 27086965 C T SNP JAM2 ENST00000312957 human ensembl 74_37 +1 known missense c.878 p.T293I 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors JAM2 HGNC ENSG00000154721 tier1 - - 80 0 0.00 63 6 8.70 KCNH8 0 genome.wustl.edu 37 3 19574898 19574898 + Silent SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 3 19574898 19574898 G A SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known silent c.2631 p.L877 0.971 superfamily_tRNA-bd_arm pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 tier1 - - 71 0 0.00 90 7 7.22 KCNH8 0 genome.wustl.edu 37 3 19575483 19575483 + Missense_Mutation SNP G G C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 3 19575483 19575483 G C SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.3216 p.W1072C 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 tier1 - - 73 0 0.00 58 7 10.77 KCNK9 0 genome.wustl.edu 37 8 140714996 140714996 + Silent SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 140714996 140714996 G A SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known silent c.240 p.F80 1.000 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 tier1 - - 26 0 0.00 38 6 13.33 KDM5C 0 genome.wustl.edu 37 X 53240002 53240002 + Missense_Mutation SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 53240002 53240002 G T SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.1439 p.P480Q 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 tier1 - - 24 0 0.00 18 9 33.33 KIF6 0 genome.wustl.edu 37 6 39563910 39563910 + Nonsense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 6 39563910 39563910 G A SNP KIF6 ENST00000287152 human ensembl 74_37 -1 known nonsense c.766 p.R256* 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 tier1 - - 96 0 0.00 110 6 5.17 KL 0 genome.wustl.edu 37 13 33629201 33629201 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 13 33629201 33629201 G A SNP KL ENST00000380099 human ensembl 74_37 +1 known missense c.1348 p.V450M 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 tier1 - - 112 0 0.00 92 19 16.96 KLHL4 0 genome.wustl.edu 37 X 86868966 86868966 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 86868966 86868966 G A SNP KLHL4 ENST00000373114 human ensembl 74_37 +1 known missense c.509 p.R170H 0.016 superfamily_BTB/POZ_fold pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 tier1 - - 67 0 0.00 46 19 29.23 KMT2C 0 genome.wustl.edu 37 7 151962186 151962186 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 7 151962186 151962186 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.1121 p.A374V 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger,pfscan_Znf_RING pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 582 0 0.00 482 27 5.30 KRTAP1-3 0 genome.wustl.edu 37 17 39190779 39190779 + Missense_Mutation SNP T T C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 17 39190779 39190779 T C SNP KRTAP1-3 ENST00000344363 human ensembl 74_37 -1 known missense c.295 p.S99G 0.001 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-3 HGNC ENSG00000221880 tier1 - - 44 0 0.00 34 4 10.53 KSR2 0 genome.wustl.edu 37 12 118105460 118105460 + Silent SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 12 118105460 118105460 G T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known silent c.990 p.A330 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 tier1 - - 24 0 0.00 21 6 22.22 LARP7 0 genome.wustl.edu 37 4 113568414 113568414 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 4 113568414 113568414 G A SNP LARP7 ENST00000324052 human ensembl 74_37 +1 known missense c.706 p.A236T 0.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 38 0 0.00 17 3 15.00 LRP3 0 genome.wustl.edu 37 19 33693821 33693821 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 19 33693821 33693821 C T SNP LRP3 ENST00000253193 human ensembl 74_37 +1 known silent c.189 p.P63 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP3 HGNC ENSG00000130881 tier1 - - 36 0 0.00 13 7 35.00 MAP3K11 0 genome.wustl.edu 37 11 65380601 65380601 + Silent SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 11 65380601 65380601 G A SNP MAP3K11 ENST00000309100 human ensembl 74_37 -1 known silent c.627 p.R209 0.492 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K11 HGNC ENSG00000173327 tier1 - - 73 0 0.00 43 17 28.33 MARCH4 0 genome.wustl.edu 37 2 217124175 217124175 + Missense_Mutation SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 2 217124175 217124175 C A SNP MARCH4 ENST00000273067 human ensembl 74_37 -1 known missense c.1093 p.A365S 0.122 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH4 HGNC ENSG00000144583 tier1 - - 85 0 0.00 61 24 27.91 MAS1L 0 genome.wustl.edu 37 6 29455069 29455069 + Missense_Mutation SNP A A G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 6 29455069 29455069 A G SNP MAS1L ENST00000377127 human ensembl 74_37 -1 known missense c.611 p.I204T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors MAS1L HGNC ENSG00000204687 tier1 - - 87 0 0.00 46 7 12.96 MATR3 0 genome.wustl.edu 37 5 138655053 138655053 + Missense_Mutation SNP G G C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 5 138655053 138655053 G C SNP MATR3 ENST00000361059 human ensembl 74_37 +1 known missense c.1465 p.D489H 1.000 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors MATR3 HGNC ENSG00000015479 tier1 - - 93 0 0.00 95 9 8.57 MDM1 0 genome.wustl.edu 37 12 68715182 68715182 + Missense_Mutation SNP T T C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 12 68715182 68715182 T C SNP MDM1 ENST00000303145 human ensembl 74_37 -1 known missense c.950 p.Q317R 1.000 NULL NULL - no_errors MDM1 HGNC ENSG00000111554 tier1 - - 77 0 0.00 62 6 8.82 MIR208B 0 genome.wustl.edu 37 14 23887269 23887271 + RNA DEL GAG GAG - TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 14 23887269 23887271 GAG - DEL MIR208B ENST00000401172 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000 - - - no_errors MIR208B HGNC ENSG00000215991 tier1 63 0 0.00 43 5 10.42 MIR633 0 genome.wustl.edu 37 17 61021673 61021673 + RNA DEL A A - TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 17 61021673 61021673 A - DEL MIR633 ENST00000384821 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MIR633 HGNC ENSG00000207552 tier1 14 0 0.00 15 3 16.67 MRPS15 0 genome.wustl.edu 37 1 36923582 36923582 + Missense_Mutation SNP A A C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 36923582 36923582 A C SNP MRPS15 ENST00000373116 human ensembl 74_37 -1 known missense c.386 p.I129S 1.000 pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd - no_errors MRPS15 HGNC ENSG00000116898 tier1 - - 123 0 0.00 73 17 18.89 MSC 0 genome.wustl.edu 37 8 72756341 72756341 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 72756341 72756341 C T SNP MSC ENST00000325509 human ensembl 74_37 -1 known missense c.73 p.A25T 0.841 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MSC HGNC ENSG00000178860 tier1 - - 66 0 0.00 39 7 15.22 MYC 0 genome.wustl.edu 37 8 128753157 128753157 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 128753157 128753157 G A SNP MYC ENST00000377970 human ensembl 74_37 +1 known missense c.1318 p.E440K 0.995 pfam_Myc-LZ,superfamily_bHLH_dom pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYC HGNC ENSG00000136997 tier1 - - 127 0 0.00 97 12 11.01 MYO5B 0 genome.wustl.edu 37 18 47363917 47363917 + Missense_Mutation SNP A A G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 18 47363917 47363917 A G SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known missense c.5108 p.V1703A 1.000 pfam_Dil_domain,pfscan_Dilute pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 tier1 rs138128932 - 67 0 0.00 54 6 10.00 MYO5B 0 genome.wustl.edu 37 18 47363930 47363930 + Silent SNP A A G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 18 47363930 47363930 A G SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known silent c.5095 p.L1699 1.000 pfam_Dil_domain,pfscan_Dilute pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 tier1 rs79271359 - 64 0 0.00 49 6 10.71 NEB 0 genome.wustl.edu 37 2 152527729 152527729 + Silent SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 2 152527729 152527729 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.4314 p.D1438 0.281 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 22 0 0.00 18 11 37.93 NLGN1 0 genome.wustl.edu 37 3 173993198 173993198 + Missense_Mutation SNP T T C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 3 173993198 173993198 T C SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.860 p.F287S 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 tier1 - - 97 0 0.00 74 11 12.94 NOTCH3 0 genome.wustl.edu 37 19 15278129 15278129 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 19 15278129 15278129 C T SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.5293 p.A1765T 1.000 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 - - 139 0 0.00 77 15 16.30 NUDCD2 0 genome.wustl.edu 37 5 162884088 162884089 + Splice_Site INS - - A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 5 162884088 162884089 - A INS NUDCD2 ENST00000302764 human ensembl 74_37 -1 known splice_site_ins c.239-3_239-2 e3-2 0.984:0.001 - - - no_errors NUDCD2 HGNC ENSG00000170584 tier1 56 0 0.00 34 3 8.11 OR10K2 0 genome.wustl.edu 37 1 158390022 158390022 + Missense_Mutation SNP A A G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 158390022 158390022 A G SNP OR10K2 ENST00000314902 human ensembl 74_37 -1 known missense c.635 p.L212S 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 OR10K2 HGNC ENSG00000180708 tier1 - - 84 0 0.00 47 16 25.40 OR2L8 0 genome.wustl.edu 37 1 248112491 248112491 + Missense_Mutation SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 248112491 248112491 C A SNP OR2L8 ENST00000357191 human ensembl 74_37 +1 known missense c.332 p.A111E 0.000 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 OR2L8 HGNC ENSG00000196936 tier1 - - 249 0 0.00 160 29 15.34 OR2T4 0 genome.wustl.edu 37 1 248525068 248525068 + Silent SNP C C G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 248525068 248525068 C G SNP OR2T4 ENST00000366475 human ensembl 74_37 +1 known silent c.186 p.V62 0.494 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T4 HGNC ENSG00000196944 tier1 - - 131 0 0.00 84 40 32.26 OR5M1 0 genome.wustl.edu 37 11 56380155 56380155 + Missense_Mutation SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 11 56380155 56380155 G T SNP OR5M1 ENST00000526538 human ensembl 74_37 -1 known missense c.824 p.A275E 0.162 pfam_GPCR_Rhodpsn,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 OR5M1 HGNC ENSG00000255012 tier1 - - 247 0 0.00 138 33 19.30 OR6X1 0 genome.wustl.edu 37 11 123624508 123624508 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 11 123624508 123624508 G A SNP OR6X1 ENST00000327930 human ensembl 74_37 -1 known missense c.719 p.A240V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6X1 HGNC ENSG00000221931 tier1 - - 87 0 0.00 51 15 22.39 PAPPA2 0 genome.wustl.edu 37 1 176679246 176679246 + Silent SNP T T G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 176679246 176679246 T G SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known silent c.3585 p.A1195 0.852 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 106 0 0.00 71 27 27.55 PCDHB6 0 genome.wustl.edu 37 5 140531159 140531159 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 5 140531159 140531159 G A SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.1321 p.D441N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 tier1 - - 200 0 0.00 98 59 37.58 PCDHGA2 0 genome.wustl.edu 37 5 140718670 140718670 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 5 140718670 140718670 C T SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known silent c.132 p.F44 0.983 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 tier1 - - 113 0 0.00 71 11 13.41 PCM1 0 genome.wustl.edu 37 8 17843544 17843544 + Missense_Mutation SNP T T G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 17843544 17843544 T G SNP PCM1 ENST00000325083 human ensembl 74_37 +1 known missense c.4358 p.I1453R 1.000 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 tier1 - - 43 0 0.00 26 9 25.71 PDE3A 0 genome.wustl.edu 37 12 20787855 20787855 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 12 20787855 20787855 C T SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known silent c.1866 p.T622 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 tier1 - - 51 0 0.00 36 8 18.18 PDE4A 0 genome.wustl.edu 37 19 10531600 10531600 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 19 10531600 10531600 C T SNP PDE4A ENST00000352831 human ensembl 74_37 +1 known missense c.160 p.R54C 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 tier1 - - 25 0 0.00 16 9 36.00 PDXDC1 0 genome.wustl.edu 37 16 15100402 15100402 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 16 15100402 15100402 G A SNP PDXDC1 ENST00000396410 human ensembl 74_37 +1 known missense c.541 p.A181T 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors PDXDC1 HGNC ENSG00000179889 tier1 - - 72 0 0.00 52 14 21.21 PHKA1 0 genome.wustl.edu 37 X 71933705 71933705 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 71933705 71933705 C T SNP PHKA1 ENST00000373539 human ensembl 74_37 -1 known silent c.24 p.G8 0.101 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 tier1 - - 25 0 0.00 11 12 52.17 POTEI 0 genome.wustl.edu 37 2 131220722 131220722 + Nonsense_Mutation SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 2 131220722 131220722 G T SNP POTEI ENST00000451531 human ensembl 74_37 -1 novel nonsense c.2895 p.C965* 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEI HGNC ENSG00000196834 tier1 - - 53 0 0.00 35 11 23.91 PRDM1 0 genome.wustl.edu 37 6 106547387 106547387 + Silent SNP T T C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 6 106547387 106547387 T C SNP PRDM1 ENST00000369096 human ensembl 74_37 +1 known silent c.624 p.L208 0.976 pirsf_Znf_PRDM1 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC ENSG00000057657 tier1 - - 87 0 0.00 71 18 20.22 PRKCB 0 genome.wustl.edu 37 16 24105487 24105487 + Missense_Mutation SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 16 24105487 24105487 G T SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known missense c.690 p.Q230H 0.993 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,prints_C2_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 tier1 - - 62 0 0.00 33 8 19.51 PRPF39 0 genome.wustl.edu 37 14 45564569 45564569 + Missense_Mutation SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 14 45564569 45564569 C A SNP PRPF39 ENST00000355765 human ensembl 74_37 +1 known missense c.127 p.Q43K 1.000 NULL smart_HAT - no_errors PRPF39 HGNC ENSG00000185246 tier1 - - 112 0 0.00 90 10 10.00 PTEN 0 genome.wustl.edu 37 10 89720799 89720802 + Frame_Shift_Del DEL TACT TACT - TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 TACT TACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 10 89720799 89720802 TACT - DEL PTEN ENST00000371953 human ensembl 74_37 +1 known frame_shift_del c.950_953 p.T319fs 1.000:1.000:1.000:1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 tier1 165 0 0.00 78 26 25.00 RAB1B 0 genome.wustl.edu 37 11 66043702 66043702 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 11 66043702 66043702 G A SNP RAB1B ENST00000311481 human ensembl 74_37 +1 known missense c.599 p.C200Y 1.000 superfamily_P-loop_NTPase,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB1B HGNC ENSG00000174903 tier1 - - 22 0 0.00 2 3 60.00 RBMS1 0 genome.wustl.edu 37 2 161349815 161349815 + Missense_Mutation SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 2 161349815 161349815 C A SNP RBMS1 ENST00000392753 human ensembl 74_37 -1 known missense c.60 p.Q20H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS1 HGNC ENSG00000153250 tier1 - - 82 0 0.00 35 11 23.91 RNA5-8SP6 0 genome.wustl.edu 37 Y 10037856 10037856 + RNA SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 Y 10037856 10037856 G A SNP RNA5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 tier1 - - 26 0 0.00 23 6 19.35 RTN4 0 genome.wustl.edu 37 2 55200757 55200757 + Missense_Mutation SNP C C G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 2 55200757 55200757 C G SNP RTN4 ENST00000337526 human ensembl 74_37 -1 known missense c.3478 p.A1160P 0.997 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 tier1 - - 61 0 0.00 32 4 11.11 SALL3 0 genome.wustl.edu 37 18 76752627 76752629 + In_Frame_Del DEL GCA GCA - TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 18 76752627 76752629 GCA - DEL SALL3 ENST00000537592 human ensembl 74_37 +1 known in_frame_del c.636_638 p.Q216in_frame_del 1.000:1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 tier1 23 0 0.00 19 2 9.52 SCN5A 0 genome.wustl.edu 37 3 38601865 38601865 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 3 38601865 38601865 C T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.4018 p.V1340I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 tier1 rs199473605 - 79 0 0.00 44 13 22.81 SERINC2 0 genome.wustl.edu 37 1 31899506 31899506 + Missense_Mutation SNP T T C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 31899506 31899506 T C SNP SERINC2 ENST00000373710 human ensembl 74_37 +1 known missense c.643 p.F215L 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC2 HGNC ENSG00000168528 tier1 - - 113 0 0.00 82 16 16.33 SHOX 0 genome.wustl.edu 37 X 595377 595377 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 595377 595377 G A SNP SHOX ENST00000381578 human ensembl 74_37 +1 known missense c.302 p.R101H 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors SHOX HGNC ENSG00000185960 tier1 - - 67 0 0.00 47 7 12.96 SLC13A2 0 genome.wustl.edu 37 17 26817608 26817608 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 17 26817608 26817608 C T SNP SLC13A2 ENST00000444914 human ensembl 74_37 +1 known missense c.515 p.P172L 1.000 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 tier1 rs200385517 - 102 0 0.00 79 9 10.11 SLC26A7 0 genome.wustl.edu 37 8 92307918 92307918 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 92307918 92307918 G A SNP SLC26A7 ENST00000309536 human ensembl 74_37 +1 known missense c.464 p.G155E 1.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 tier1 - - 60 0 0.00 50 12 19.35 SLC9A3 0 genome.wustl.edu 37 5 479974 479974 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 5 479974 479974 C T SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known missense c.1624 p.D542N 1.000 prints_Na/H_exchanger_3/5,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 tier1 - - 97 0 0.00 294 28 8.70 SLITRK2 0 genome.wustl.edu 37 X 144906326 144906326 + Nonsense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 144906326 144906326 C T SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known nonsense c.2383 p.Q795* 1.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 tier1 - - 99 0 0.00 91 18 16.51 SNAP47 0 genome.wustl.edu 37 1 227954659 227954659 + Splice_Site SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 227954659 227954659 G T SNP SNAP47 ENST00000366759 human ensembl 74_37 +1 known splice_site c.1124-1 e4-1 0.999 - - - no_errors SNAP47 HGNC ENSG00000143740 tier1 - - 75 0 0.00 43 7 14.00 SNAPC3 0 genome.wustl.edu 37 9 15423052 15423052 + Frame_Shift_Del DEL G G - TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 9 15423052 15423052 G - DEL SNAPC3 ENST00000380821 human ensembl 74_37 +1 known frame_shift_del c.175 p.D60fs 0.011 NULL pfam_snRNA-activating_su3 - no_errors SNAPC3 HGNC ENSG00000164975 tier1 31 0 0.00 23 2 8.00 SNPH 0 genome.wustl.edu 37 20 1277002 1277002 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 20 1277002 1277002 G A SNP SNPH ENST00000381867 human ensembl 74_37 +1 known missense c.119 p.R40Q 1.000 NULL NULL - no_errors SNPH HGNC ENSG00000101298 tier1 - - 54 0 0.00 41 6 12.77 SORBS2 0 genome.wustl.edu 37 4 186578619 186578619 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 4 186578619 186578619 C T SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.226 p.G76R 1.000 pfam_Sorb,smart_Sorb,pfscan_Sorb pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 tier1 - - 43 0 0.00 31 7 18.42 SORCS1 0 genome.wustl.edu 37 10 108432662 108432662 + Silent SNP G G C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 10 108432662 108432662 G C SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known silent c.2022 p.A674 0.574 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 50 0 0.00 32 13 28.26 SPATA31D5P 0 genome.wustl.edu 37 9 84532037 84532037 + RNA SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 9 84532037 84532037 C T SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D5P HGNC ENSG00000240632 tier1 - - 75 0 0.00 37 10 20.83 SPIRE1 0 genome.wustl.edu 37 18 12452387 12452387 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 18 12452387 12452387 G A SNP SPIRE1 ENST00000409402 human ensembl 74_37 -1 known missense c.1879 p.R627W 1.000 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE1 HGNC ENSG00000134278 tier1 - - 92 0 0.00 52 12 18.75 SRCRB4D 0 genome.wustl.edu 37 7 76027010 76027010 + Silent SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 7 76027010 76027010 G A SNP SRCRB4D ENST00000275560 human ensembl 74_37 -1 known silent c.693 p.G231 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors SRCRB4D HGNC ENSG00000146700 tier1 - - 56 0 0.00 27 18 40.00 SYT16 0 genome.wustl.edu 37 14 62542008 62542008 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 14 62542008 62542008 C T SNP SYT16 ENST00000446982 human ensembl 74_37 +1 known missense c.892 p.R298C 0.045 NULL NULL - no_errors SYT16 HGNC ENSG00000139973 tier1 - - 54 0 0.00 46 8 14.81 TBC1D29 0 genome.wustl.edu 37 17 28890301 28890301 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 17 28890301 28890301 G A SNP TBC1D29 ENST00000579181 human ensembl 74_37 +1 known missense c.311 p.S104N 0.904 NULL superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D29 HGNC ENSG00000266733 tier1 rs80145926 - 70 0 0.00 55 7 11.29 TBX20 0 genome.wustl.edu 37 7 35288323 35288323 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 7 35288323 35288323 C T SNP TBX20 ENST00000408931 human ensembl 74_37 -1 known missense c.511 p.V171M 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC ENSG00000164532 tier1 - - 120 0 0.00 84 19 18.27 TBX20 0 genome.wustl.edu 37 7 35293169 35293169 + Silent SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 7 35293169 35293169 G A SNP TBX20 ENST00000408931 human ensembl 74_37 -1 known silent c.63 p.A21 0.882 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC ENSG00000164532 tier1 rs139984472 - 93 0 0.00 59 8 11.94 TCEAL2 0 genome.wustl.edu 37 X 101382431 101382431 + Missense_Mutation SNP T T A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 101382431 101382431 T A SNP TCEAL2 ENST00000329035 human ensembl 74_37 +1 known missense c.629 p.F210Y 0.001 NULL pfam_TF_A-like/BEX-like - no_errors TCEAL2 HGNC ENSG00000184905 tier1 - - 124 0 0.00 85 23 21.30 TG 0 genome.wustl.edu 37 8 133980206 133980206 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 133980206 133980206 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.5854 p.R1952W 0.950 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 49 0 0.00 28 15 34.88 TMEM200C 0 genome.wustl.edu 37 18 5891853 5891853 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 18 5891853 5891853 C T SNP TMEM200C ENST00000383490 human ensembl 74_37 -1 known silent c.210 p.A70 0.009 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 tier1 - - 55 0 0.00 40 5 11.11 TMEM209 0 genome.wustl.edu 37 7 129825119 129825119 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 7 129825119 129825119 C T SNP TMEM209 ENST00000397622 human ensembl 74_37 -1 known silent c.864 p.K288 1.000 pfam_Cytochrome_B561-rel pfam_Cytochrome_B561-rel - no_errors TMEM209 HGNC ENSG00000146842 tier1 - - 105 0 0.00 87 24 21.62 TP53 0 genome.wustl.edu 37 17 7577139 7577139 + Missense_Mutation SNP G G C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 17 7577139 7577139 G C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.799 p.R267G 1.000 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 tier1 - - 33 0 0.00 11 11 50.00 TTBK2 0 genome.wustl.edu 37 15 43103957 43103957 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 15 43103957 43103957 G A SNP TTBK2 ENST00000267890 human ensembl 74_37 -1 known missense c.625 p.L209F 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors TTBK2 HGNC ENSG00000128881 tier1 - - 61 0 0.00 40 11 21.57 UBR4 0 genome.wustl.edu 37 1 19447901 19447902 + Frame_Shift_Ins INS - - T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 19447901 19447902 - T INS UBR4 ENST00000375267 human ensembl 74_37 -1 known frame_shift_ins c.9923_9922 p.S3308fs 1.000:1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 tier1 87 0 0.00 65 7 9.72 UQCRFS1 0 genome.wustl.edu 37 19 29698917 29698917 + Silent SNP A A C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 19 29698917 29698917 A C SNP UQCRFS1 ENST00000304863 human ensembl 74_37 -1 known silent c.363 p.T121 0.023 pfam_Ubiquinol_cyt_Rdtase_TM,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su - no_errors UQCRFS1 HGNC ENSG00000169021 tier1 - - 110 0 0.00 82 31 27.43 UST 0 genome.wustl.edu 37 6 149395000 149395000 + Silent SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 6 149395000 149395000 G A SNP UST ENST00000367463 human ensembl 74_37 +1 known silent c.969 p.T323 0.989 pfam_Sulfotransferase pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors UST HGNC ENSG00000111962 tier1 - - 95 0 0.00 60 12 16.67 VLDLR 0 genome.wustl.edu 37 9 2639982 2639982 + Splice_Site SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 9 2639982 2639982 G A SNP VLDLR ENST00000382100 human ensembl 74_37 +1 known splice_site c.325+1 e3+1 1.000 - - - no_errors VLDLR HGNC ENSG00000147852 tier1 - - 221 0 0.00 105 43 29.05 XKR5 0 genome.wustl.edu 37 8 6679544 6679544 + RNA SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 6679544 6679544 C T SNP XKR5 ENST00000405979 human ensembl 74_37 -1 known rna NULL NULL 0.408 - - - no_errors XKR5 HGNC ENSG00000186530 tier1 - - 17 0 0.00 26 6 18.75 XKR5 0 genome.wustl.edu 37 8 6682776 6682776 + RNA SNP C C G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 6682776 6682776 C G SNP XKR5 ENST00000405979 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors XKR5 HGNC ENSG00000186530 tier1 - - 52 0 0.00 73 9 10.84 ZBTB4 0 genome.wustl.edu 37 17 7365275 7365275 + Missense_Mutation SNP T T C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 17 7365275 7365275 T C SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known missense c.3026 p.K1009R 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 tier1 - - 108 0 0.00 50 8 13.79 ZC3H11A 0 genome.wustl.edu 37 1 203798644 203798644 + Nonsense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 203798644 203798644 C T SNP ZC3H11A ENST00000332127 human ensembl 74_37 +1 known nonsense c.364 p.Q122* 0.995 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 tier1 - - 136 0 0.00 87 11 11.22 ZFHX4 0 genome.wustl.edu 37 8 77618657 77618657 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 77618657 77618657 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.2334 p.V778 0.657 smart_Znf_C2H2-like pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 38 0 0.00 26 23 46.94 ZFPM2 0 genome.wustl.edu 37 8 106814329 106814329 + Silent SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 106814329 106814329 C A SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known silent c.2019 p.P673 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 tier1 - - 44 0 0.00 19 6 24.00 ZKSCAN7 0 genome.wustl.edu 37 3 44611750 44611750 + Missense_Mutation SNP A A G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 3 44611750 44611750 A G SNP ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known missense c.1148 p.Y383C 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN7 HGNC ENSG00000196345 tier1 - - 172 0 0.00 92 26 22.03 ZNF106 0 genome.wustl.edu 37 15 42738805 42738805 + Missense_Mutation SNP T T C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 15 42738805 42738805 T C SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.3118 p.K1040E 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 tier1 - - 12 0 0.00 10 5 31.25 ZNF185 0 genome.wustl.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 152087570 152087572 GAG - DEL ZNF185 ENST00000370270 human ensembl 74_37 +1 known in_frame_del c.475_477 p.E162in_frame_del 0.026:0.052:0.078 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 tier1 21 0 0.00 28 5 15.15 ZNF322 0 genome.wustl.edu 37 6 26638628 26638628 + Missense_Mutation SNP A A C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 6 26638628 26638628 A C SNP ZNF322 ENST00000415922 human ensembl 74_37 -1 known missense c.154 p.F52V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF322 HGNC ENSG00000181315 tier1 - - 384 0 0.00 236 24 9.20 ZNF700 0 genome.wustl.edu 37 19 12060014 12060014 + Missense_Mutation SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 19 12060014 12060014 G T SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known missense c.1175 p.C392F 0.245 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 ZNF700 HGNC ENSG00000196757 tier1 - - 73 0 0.00 50 8 13.79 ZNF808 0 genome.wustl.edu 37 19 53057674 53057674 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 19 53057674 53057674 G A SNP ZNF808 ENST00000359798 human ensembl 74_37 +1 known missense c.1505 p.R502H 0.618 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 ZNF808 HGNC ENSG00000198482 tier1 - - 152 0 0.00 89 23 20.54 COL11A1 0 genome.wustl.edu 37 1 103428237 103428237 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 103428237 103428237 G A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.3032 p.P1011L 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 114 0 0 65 17 20.7317 OR10K2 0 genome.wustl.edu 37 1 158390022 158390022 + Missense_Mutation SNP A A G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 158390022 158390022 A G SNP OR10K2 ENST00000314902 human ensembl 74_37 -1 known missense c.635 p.L212S 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 OR10K2 HGNC ENSG00000180708 80 0 0 44 15 25.4237 OR10R2 0 genome.wustl.edu 37 1 158450497 158450497 + Missense_Mutation SNP T T C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 158450497 158450497 T C SNP OR10R2 ENST00000368152 human ensembl 74_37 +1 known missense c.830 p.F277S 0.953 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10R2 HGNC ENSG00000198965 62 0 0 38 4 9.52381 DDR2 0 genome.wustl.edu 37 1 162740150 162740150 + Missense_Mutation SNP C C G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 162740150 162740150 C G SNP DDR2 ENST00000367921 human ensembl 74_37 +1 known missense c.1352 p.S451C 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 163 0 0 112 10 8.19672 ADCY10 0 genome.wustl.edu 37 1 167830176 167830176 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 167830176 167830176 C T SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known missense c.1742 p.R581Q 0.026 superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 112 0 0 74 18 19.5652 PAPPA2 0 genome.wustl.edu 37 1 176679246 176679246 + Silent SNP T T G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 176679246 176679246 T G SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known silent c.3585 p.A1195 0.852 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 95 0 0 65 25 27.7778 ZC3H11A 0 genome.wustl.edu 37 1 203798644 203798644 + Nonsense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 203798644 203798644 C T SNP ZC3H11A ENST00000332127 human ensembl 74_37 +1 known nonsense c.364 p.Q122* 0.995 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 128 0 0 83 9 9.78261 SNAP47 0 genome.wustl.edu 37 1 227954659 227954659 + Splice_Site SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 227954659 227954659 G T SNP SNAP47 ENST00000366759 human ensembl 74_37 +1 known splice_site c.1124-1 e4-1 0.999 - - - no_errors SNAP47 HGNC ENSG00000143740 67 0 0 38 6 13.6364 MRPL55 0 genome.wustl.edu 37 1 228295696 228295696 + Missense_Mutation SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 228295696 228295696 C A SNP MRPL55 ENST00000366731 human ensembl 74_37 -1 known missense c.116 p.G39V 0.000 NULL pfam_Ribosomal_L55_mit - no_errors MRPL55 HGNC ENSG00000162910 10 0 0 4 3 42.8571 TRIM58 0 genome.wustl.edu 37 1 248039272 248039272 + Missense_Mutation SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 248039272 248039272 G T SNP TRIM58 ENST00000366481 human ensembl 74_37 +1 known missense c.942 p.Q314H 0.016 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 60 0 0 42 4 8.69565 OR2L8 0 genome.wustl.edu 37 1 248112491 248112491 + Missense_Mutation SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 248112491 248112491 C A SNP OR2L8 ENST00000357191 human ensembl 74_37 +1 known missense c.332 p.A111E 0.000 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 OR2L8 HGNC ENSG00000196936 233 0 0 151 27 15.1685 OR2T4 0 genome.wustl.edu 37 1 248525068 248525068 + Silent SNP C C G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 248525068 248525068 C G SNP OR2T4 ENST00000366475 human ensembl 74_37 +1 known silent c.186 p.V62 0.494 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T4 HGNC ENSG00000196944 128 0 0 81 37 31.3559 SERINC2 0 genome.wustl.edu 37 1 31899506 31899506 + Missense_Mutation SNP T T C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 31899506 31899506 T C SNP SERINC2 ENST00000373710 human ensembl 74_37 +1 known missense c.643 p.F215L 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC2 HGNC ENSG00000168528 102 0 0 76 16 17.3913 MRPS15 0 genome.wustl.edu 37 1 36923582 36923582 + Missense_Mutation SNP A A C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 36923582 36923582 A C SNP MRPS15 ENST00000373116 human ensembl 74_37 -1 known missense c.386 p.I129S 1.000 pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd - no_errors MRPS15 HGNC ENSG00000116898 111 0 0 68 14 17.0732 C8A 0 genome.wustl.edu 37 1 57351732 57351732 + Missense_Mutation SNP T T C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 57351732 57351732 T C SNP C8A ENST00000361249 human ensembl 74_37 +1 known missense c.988 p.Y330H 1.000 pfam_MACPF,smart_MACPF,prints_MAC_perforin pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8A HGNC ENSG00000157131 82 0 0 66 5 7.04225 LRRIQ3 0 genome.wustl.edu 37 1 74648525 74648525 + Silent SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 74648525 74648525 G A SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known silent c.270 p.T90 0.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 34 0 0 22 4 15.3846 SLC45A1 0 genome.wustl.edu 37 1 8399614 8399614 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 8399614 8399614 C T SNP SLC45A1 ENST00000377479 human ensembl 74_37 +1 known silent c.1938 p.L646 0.983 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 141 0 0 106 16 13.1148 ABCC2 0 genome.wustl.edu 37 10 101556999 101556999 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 10 101556999 101556999 C T SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.778 p.R260W 0.285 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 51 0 0 32 19 37.2549 SORCS1 0 genome.wustl.edu 37 10 108432662 108432662 + Silent SNP G G C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 10 108432662 108432662 G C SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known silent c.2022 p.A674 0.574 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 47 0 0 29 12 29.2683 GAD2 0 genome.wustl.edu 37 10 26506812 26506812 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 10 26506812 26506812 G A SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known missense c.178 p.G60R 0.923 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 45 0 0 42 3 6.66667 ANK3 0 genome.wustl.edu 37 10 61832826 61832826 + Nonsense_Mutation SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 10 61832826 61832826 C A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known nonsense c.7813 p.E2605* 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 119 1 0.833333 76 20 20.8333 OR6X1 0 genome.wustl.edu 37 11 123624508 123624508 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 11 123624508 123624508 G A SNP OR6X1 ENST00000327930 human ensembl 74_37 -1 known missense c.719 p.A240V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6X1 HGNC ENSG00000221931 79 0 0 47 14 22.9508 OR5M1 0 genome.wustl.edu 37 11 56380155 56380155 + Missense_Mutation SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 11 56380155 56380155 G T SNP OR5M1 ENST00000526538 human ensembl 74_37 -1 known missense c.824 p.A275E 0.162 pfam_GPCR_Rhodpsn,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 OR5M1 HGNC ENSG00000255012 231 0 0 135 32 19.1617 MAP3K11 0 genome.wustl.edu 37 11 65380601 65380601 + Silent SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 11 65380601 65380601 G A SNP MAP3K11 ENST00000309100 human ensembl 74_37 -1 known silent c.627 p.R209 0.492 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K11 HGNC ENSG00000173327 64 0 0 35 15 30 RAB1B 0 genome.wustl.edu 37 11 66043702 66043702 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 11 66043702 66043702 G A SNP RAB1B ENST00000311481 human ensembl 74_37 +1 known missense c.599 p.C200Y 1.000 superfamily_P-loop_NTPase,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB1B HGNC ENSG00000174903 18 0 0 2 3 60 KSR2 0 genome.wustl.edu 37 12 118105460 118105460 + Silent SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 12 118105460 118105460 G T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known silent c.990 p.A330 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 24 0 0 19 5 20.8333 PDE3A 0 genome.wustl.edu 37 12 20787855 20787855 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 12 20787855 20787855 C T SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known silent c.1866 p.T622 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 45 0 0 33 7 17.5 LRRK2 0 genome.wustl.edu 37 12 40713965 40713965 + Missense_Mutation SNP T T G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 12 40713965 40713965 T G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.5003 p.L1668R 1.000 NULL pfam_Prot_kinase_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_P-loop_NTPase,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_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 68 0 0 46 3 6.12245 AMHR2 0 genome.wustl.edu 37 12 53825178 53825178 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 12 53825178 53825178 G A SNP AMHR2 ENST00000257863 human ensembl 74_37 +1 known missense c.1643 p.R548Q 0.008 pirsf_Anti-muellerian_hrmn_rcpt_II pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AMHR2 HGNC ENSG00000135409 125 0 0 85 6 6.59341 MDM1 0 genome.wustl.edu 37 12 68715182 68715182 + Missense_Mutation SNP T T C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 12 68715182 68715182 T C SNP MDM1 ENST00000303145 human ensembl 74_37 -1 known missense c.950 p.Q317R 1.000 NULL NULL - no_errors MDM1 HGNC ENSG00000111554 63 0 0 56 5 8.19672 COL4A1 0 genome.wustl.edu 37 13 110835554 110835554 + Missense_Mutation SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 13 110835554 110835554 G T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.1967 p.S656Y 0.072 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 51 0 0 33 8 19.5122 COL4A2 0 genome.wustl.edu 37 13 111130506 111130506 + Missense_Mutation SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 13 111130506 111130506 G T SNP COL4A2 ENST00000360467 human ensembl 74_37 +1 known missense c.2582 p.R861L 0.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 26 0 0 15 4 21.0526 FGF9 0 genome.wustl.edu 37 13 22246137 22246137 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 13 22246137 22246137 G A SNP FGF9 ENST00000382353 human ensembl 74_37 +1 known missense c.86 p.S29N 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF9 HGNC ENSG00000102678 115 0 0 81 21 20.5882 KL 0 genome.wustl.edu 37 13 33629201 33629201 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 13 33629201 33629201 G A SNP KL ENST00000380099 human ensembl 74_37 +1 known missense c.1348 p.V450M 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 97 0 0 84 18 17.6471 BNIP3P1 0 genome.wustl.edu 37 14 28734125 28734125 + RNA SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 14 28734125 28734125 C T SNP BNIP3P1 ENST00000550043 human ensembl 74_37 +1 known rna NULL NULL 0.858 - - - no_errors BNIP3P1 HGNC ENSG00000197358 86 0 0 72 8 10 PRPF39 0 genome.wustl.edu 37 14 45564569 45564569 + Missense_Mutation SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 14 45564569 45564569 C A SNP PRPF39 ENST00000355765 human ensembl 74_37 +1 known missense c.127 p.Q43K 1.000 NULL smart_HAT - no_errors PRPF39 HGNC ENSG00000185246 107 0 0 83 10 10.7527 SYT16 0 genome.wustl.edu 37 14 62542008 62542008 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 14 62542008 62542008 C T SNP SYT16 ENST00000446982 human ensembl 74_37 +1 known missense c.892 p.R298C 0.045 NULL NULL - no_errors SYT16 HGNC ENSG00000139973 51 0 0 45 8 15.0943 CYFIP1 0 genome.wustl.edu 37 15 22954298 22954298 + Missense_Mutation SNP C C G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 15 22954298 22954298 C G SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known missense c.1448 p.A483G 0.885 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 97 0 0 77 21 21.4286 ZNF106 0 genome.wustl.edu 37 15 42738805 42738805 + Missense_Mutation SNP T T C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 15 42738805 42738805 T C SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.3118 p.K1040E 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 11 0 0 9 5 35.7143 TTBK2 0 genome.wustl.edu 37 15 43103957 43103957 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 15 43103957 43103957 G A SNP TTBK2 ENST00000267890 human ensembl 74_37 -1 known missense c.625 p.L209F 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors TTBK2 HGNC ENSG00000128881 46 0 0 33 11 25 CACNA1H 0 genome.wustl.edu 37 16 1251724 1251724 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 16 1251724 1251724 C T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.1274 p.T425M 0.998 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 30 0 0 19 4 17.3913 PDXDC1 0 genome.wustl.edu 37 16 15100402 15100402 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 16 15100402 15100402 G A SNP PDXDC1 ENST00000396410 human ensembl 74_37 +1 known missense c.541 p.A181T 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors PDXDC1 HGNC ENSG00000179889 61 0 0 44 14 24.1379 GPR139 0 genome.wustl.edu 37 16 20043340 20043340 + Missense_Mutation SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 16 20043340 20043340 C A SNP GPR139 ENST00000570682 human ensembl 74_37 -1 known missense c.779 p.R260L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR139 HGNC ENSG00000180269 88 0 0 67 13 16.25 DNAH3 0 genome.wustl.edu 37 16 21073961 21073961 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 16 21073961 21073961 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.3562 p.E1188K 1.000 pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 52 0 0 52 8 13.3333 PRKCB 0 genome.wustl.edu 37 16 24105487 24105487 + Missense_Mutation SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 16 24105487 24105487 G T SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known missense c.690 p.Q230H 0.993 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,prints_C2_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 57 0 0 31 8 20.5128 CLUAP1 0 genome.wustl.edu 37 16 3573209 3573209 + Missense_Mutation SNP G G C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 16 3573209 3573209 G C SNP CLUAP1 ENST00000576634 human ensembl 74_37 +1 known missense c.765 p.Q255H 0.993 pfam_Clusterin-associated_protein-1 pfam_Clusterin-associated_protein-1,superfamily_CH-domain - no_errors CLUAP1 HGNC ENSG00000103351 67 0 0 29 12 29.2683 SLC13A2 0 genome.wustl.edu 37 17 26817608 26817608 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 17 26817608 26817608 C T SNP SLC13A2 ENST00000444914 human ensembl 74_37 +1 known missense c.515 p.P172L 1.000 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 91 0 0 67 9 11.8421 ZBTB4 0 genome.wustl.edu 37 17 7365275 7365275 + Missense_Mutation SNP T T C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 17 7365275 7365275 T C SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known missense c.3026 p.K1009R 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 108 0 0 47 8 14.5455 TP53 0 genome.wustl.edu 37 17 7577139 7577139 + Missense_Mutation SNP G G C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 17 7577139 7577139 G C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.799 p.R267G 1.000 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 32 0 0 11 11 50 CTC1 0 genome.wustl.edu 37 17 8139248 8139248 + Silent SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 17 8139248 8139248 G A SNP CTC1 ENST00000315684 human ensembl 74_37 -1 known silent c.1107 p.P369 0.251 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 66 0 0 36 19 34.5455 SPIRE1 0 genome.wustl.edu 37 18 12452387 12452387 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 18 12452387 12452387 G A SNP SPIRE1 ENST00000409402 human ensembl 74_37 -1 known missense c.1879 p.R627W 1.000 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE1 HGNC ENSG00000134278 85 0 0 47 11 18.9655 ANKRD30B 0 genome.wustl.edu 37 18 14787072 14787072 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 18 14787072 14787072 C T SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known silent c.1707 p.D569 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 35 0 0 26 6 18.75 CDH2 0 genome.wustl.edu 37 18 25616486 25616486 + Silent SNP A A G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 18 25616486 25616486 A G SNP CDH2 ENST00000399380 human ensembl 74_37 -1 novel silent c.27 p.C9 0.035 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 148 0 0 58 7 10.7692 COLEC12 0 genome.wustl.edu 37 18 347195 347195 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 18 347195 347195 C T SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known missense c.427 p.G143R 0.997 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 137 0 0 105 34 24.4604 TMEM200C 0 genome.wustl.edu 37 18 5891853 5891853 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 18 5891853 5891853 C T SNP TMEM200C ENST00000383490 human ensembl 74_37 -1 known silent c.210 p.A70 0.009 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 53 0 0 38 5 11.6279 DSEL 0 genome.wustl.edu 37 18 65180462 65180462 + Missense_Mutation SNP T T G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 18 65180462 65180462 T G SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.1414 p.S472R 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 94 0 0 40 16 28.5714 PDE4A 0 genome.wustl.edu 37 19 10531600 10531600 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 19 10531600 10531600 C T SNP PDE4A ENST00000352831 human ensembl 74_37 +1 known missense c.160 p.R54C 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 21 0 0 13 7 35 ZNF700 0 genome.wustl.edu 37 19 12060014 12060014 + Missense_Mutation SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 19 12060014 12060014 G T SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known missense c.1175 p.C392F 0.245 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 ZNF700 HGNC ENSG00000196757 72 0 0 48 8 14.2857 NOTCH3 0 genome.wustl.edu 37 19 15278129 15278129 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 19 15278129 15278129 C T SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.5293 p.A1765T 1.000 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 136 0 0 74 15 16.8539 CYP4F2 0 genome.wustl.edu 37 19 15990167 15990167 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 19 15990167 15990167 C T SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known silent c.1386 p.S462 0.597 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 210 0 0 155 31 16.6667 UQCRFS1 0 genome.wustl.edu 37 19 29698917 29698917 + Silent SNP A A C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 19 29698917 29698917 A C SNP UQCRFS1 ENST00000304863 human ensembl 74_37 -1 known silent c.363 p.T121 0.023 pfam_Ubiquinol_cyt_Rdtase_TM,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su - no_errors UQCRFS1 HGNC ENSG00000169021 100 0 0 74 30 28.8462 LRP3 0 genome.wustl.edu 37 19 33693821 33693821 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 19 33693821 33693821 C T SNP LRP3 ENST00000253193 human ensembl 74_37 +1 known silent c.189 p.P63 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP3 HGNC ENSG00000130881 34 0 0 12 5 29.4118 CAPNS1 0 genome.wustl.edu 37 19 36633605 36633605 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 19 36633605 36633605 C T SNP CAPNS1 ENST00000588780 human ensembl 74_37 +1 known missense c.295 p.R99W 0.396 NULL pfscan_EF_hand_dom - no_errors CAPNS1 HGNC ENSG00000126247 154 0 0 82 21 20.3883 ZNF808 0 genome.wustl.edu 37 19 53057674 53057674 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 19 53057674 53057674 G A SNP ZNF808 ENST00000359798 human ensembl 74_37 +1 known missense c.1505 p.R502H 0.618 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 ZNF808 HGNC ENSG00000198482 140 0 0 79 22 21.7822 NEB 0 genome.wustl.edu 37 2 152527729 152527729 + Silent SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 2 152527729 152527729 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.4314 p.D1438 0.281 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 22 0 0 17 10 37.037 RBMS1 0 genome.wustl.edu 37 2 161349815 161349815 + Missense_Mutation SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 2 161349815 161349815 C A SNP RBMS1 ENST00000392753 human ensembl 74_37 -1 known missense c.60 p.Q20H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS1 HGNC ENSG00000153250 72 0 0 32 10 23.8095 TTN 0 genome.wustl.edu 37 2 179613084 179613084 + Missense_Mutation SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 2 179613084 179613084 C A SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.14043 p.E4681D 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 125 1 0.793651 77 6 7.22892 COL5A2 0 genome.wustl.edu 37 2 189933587 189933587 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 2 189933587 189933587 C T SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known silent c.1182 p.A394 0.006 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 52 0 0 37 7 15.9091 GTF3C3 0 genome.wustl.edu 37 2 197631305 197631305 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 2 197631305 197631305 G A SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known missense c.2522 p.P841L 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 84 0 0 56 8 12.5 ABCA12 0 genome.wustl.edu 37 2 215823130 215823130 + Silent SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 2 215823130 215823130 G T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.5988 p.G1996 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 75 0 0 49 14 22.2222 MARCH4 0 genome.wustl.edu 37 2 217124175 217124175 + Missense_Mutation SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 2 217124175 217124175 C A SNP MARCH4 ENST00000273067 human ensembl 74_37 -1 known missense c.1093 p.A365S 0.122 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH4 HGNC ENSG00000144583 76 0 0 57 23 28.75 DOCK10 0 genome.wustl.edu 37 2 225670000 225670000 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 2 225670000 225670000 C T SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.3974 p.R1325Q 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 130 0 0 103 15 12.7119 ACTG2 0 genome.wustl.edu 37 2 74128460 74128460 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 2 74128460 74128460 G A SNP ACTG2 ENST00000345517 human ensembl 74_37 +1 known missense c.22 p.A8T 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTG2 HGNC ENSG00000163017 65 0 0 40 9 18.3673 SNPH 0 genome.wustl.edu 37 20 1277002 1277002 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 20 1277002 1277002 G A SNP SNPH ENST00000381867 human ensembl 74_37 +1 known missense c.119 p.R40Q 1.000 NULL NULL - no_errors SNPH HGNC ENSG00000101298 52 0 0 37 6 13.9535 JAM2 0 genome.wustl.edu 37 21 27086965 27086965 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 21 27086965 27086965 C T SNP JAM2 ENST00000312957 human ensembl 74_37 +1 known missense c.878 p.T293I 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors JAM2 HGNC ENSG00000154721 66 0 0 52 4 7.14286 GART 0 genome.wustl.edu 37 21 34889832 34889832 + Missense_Mutation SNP C C G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 21 34889832 34889832 C G SNP GART ENST00000381815 human ensembl 74_37 -1 known missense c.1786 p.D596H 0.491 superfamily_PurM_N-like,tigrfam_PurM_cligase pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 188 0 0 94 31 24.8 DSCAM 0 genome.wustl.edu 37 21 41551011 41551011 + Missense_Mutation SNP A A C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 21 41551011 41551011 A C SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.2790 p.D930E 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 77 0 0 42 7 14.2857 PAQR9 0 genome.wustl.edu 37 3 142681569 142681569 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 3 142681569 142681569 G A SNP PAQR9 ENST00000340634 human ensembl 74_37 -1 known missense c.610 p.R204C 0.566 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 33 0 0 19 3 13.6364 KCNH8 0 genome.wustl.edu 37 3 19574898 19574898 + Silent SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 3 19574898 19574898 G A SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known silent c.2631 p.L877 0.971 superfamily_tRNA-bd_arm pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 67 0 0 85 6 6.59341 KCNH8 0 genome.wustl.edu 37 3 19575483 19575483 + Missense_Mutation SNP G G C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 3 19575483 19575483 G C SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.3216 p.W1072C 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 71 0 0 53 7 11.6667 SCN5A 0 genome.wustl.edu 37 3 38601865 38601865 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 3 38601865 38601865 C T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.4018 p.V1340I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 66 0 0 38 12 24 ZKSCAN7 0 genome.wustl.edu 37 3 44611750 44611750 + Missense_Mutation SNP A A G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 3 44611750 44611750 A G SNP ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known missense c.1148 p.Y383C 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN7 HGNC ENSG00000196345 152 0 0 81 23 22.1154 ADAD1 0 genome.wustl.edu 37 4 123301348 123301348 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 4 123301348 123301348 G A SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known missense c.124 p.E42K 0.986 NULL pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 95 0 0 60 16 21.0526 SORBS2 0 genome.wustl.edu 37 4 186578619 186578619 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 4 186578619 186578619 C T SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.226 p.G76R 1.000 pfam_Sorb,smart_Sorb,pfscan_Sorb pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 42 0 0 26 6 18.75 ADAMTS19 0 genome.wustl.edu 37 5 129070703 129070703 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 5 129070703 129070703 G A SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.3373 p.E1125K 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 108 0 0 81 14 14.7368 DNAH5 0 genome.wustl.edu 37 5 13830781 13830781 + Missense_Mutation SNP A A T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 5 13830781 13830781 A T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.5986 p.C1996S 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 79 0 0 189 19 9.13462 MATR3 0 genome.wustl.edu 37 5 138655053 138655053 + Missense_Mutation SNP G G C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 5 138655053 138655053 G C SNP MATR3 ENST00000361059 human ensembl 74_37 +1 known missense c.1465 p.D489H 1.000 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors MATR3 HGNC ENSG00000015479 84 0 0 77 8 9.41176 PCDHB6 0 genome.wustl.edu 37 5 140531159 140531159 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 5 140531159 140531159 G A SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.1321 p.D441N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 192 0 0 95 51 34.9315 PCDHGA2 0 genome.wustl.edu 37 5 140718670 140718670 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 5 140718670 140718670 C T SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known silent c.132 p.F44 0.983 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 102 0 0 63 10 13.6986 DPYSL3 0 genome.wustl.edu 37 5 146781177 146781177 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 5 146781177 146781177 C T SNP DPYSL3 ENST00000398514 human ensembl 74_37 -1 known silent c.894 p.A298 0.025 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC ENSG00000113657 35 0 0 19 6 24 FAM153C 0 genome.wustl.edu 37 5 177468735 177468735 + Missense_Mutation SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 5 177468735 177468735 G T SNP FAM153C ENST00000507848 human ensembl 74_37 +1 known missense c.175 p.V59F 0.000 prints_FAM153 prints_FAM153 - no_errors FAM153C HGNC ENSG00000204677 129 0 0 95 28 22.7642 SLC9A3 0 genome.wustl.edu 37 5 479974 479974 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 5 479974 479974 C T SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known missense c.1624 p.D542N 1.000 prints_Na/H_exchanger_3/5,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 88 0 0 265 27 9.24658 ASCC3 0 genome.wustl.edu 37 6 101095278 101095278 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 6 101095278 101095278 C T SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.3302 p.R1101H 0.998 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 84 0 0 68 19 21.8391 PRDM1 0 genome.wustl.edu 37 6 106547387 106547387 + Silent SNP T T C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 6 106547387 106547387 T C SNP PRDM1 ENST00000369096 human ensembl 74_37 +1 known silent c.624 p.L208 0.976 pirsf_Znf_PRDM1 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC ENSG00000057657 78 0 0 63 14 18.1818 HIVEP2 0 genome.wustl.edu 37 6 143074667 143074667 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 6 143074667 143074667 C T SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.6918 p.M2306I 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 117 0 0 69 29 29.5918 UST 0 genome.wustl.edu 37 6 149395000 149395000 + Silent SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 6 149395000 149395000 G A SNP UST ENST00000367463 human ensembl 74_37 +1 known silent c.969 p.T323 0.989 pfam_Sulfotransferase pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors UST HGNC ENSG00000111962 84 0 0 49 10 16.9492 SYNE1 0 genome.wustl.edu 37 6 152534788 152534788 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 6 152534788 152534788 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.22453 p.G7485R 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 219 1 0.454545 136 24 15 SYNE1 0 genome.wustl.edu 37 6 152804240 152804240 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 6 152804240 152804240 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.1330 p.R444W 0.906 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 327 0 0 170 51 23.0769 ZNF322 0 genome.wustl.edu 37 6 26638628 26638628 + Missense_Mutation SNP A A C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 6 26638628 26638628 A C SNP ZNF322 ENST00000415922 human ensembl 74_37 -1 known missense c.154 p.F52V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF322 HGNC ENSG00000181315 344 0 0 211 22 9.44206 MAS1L 0 genome.wustl.edu 37 6 29455069 29455069 + Missense_Mutation SNP A A G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 6 29455069 29455069 A G SNP MAS1L ENST00000377127 human ensembl 74_37 -1 known missense c.611 p.I204T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors MAS1L HGNC ENSG00000204687 79 0 0 41 7 14.5833 ANKS1A 0 genome.wustl.edu 37 6 34949611 34949611 + Nonsense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 6 34949611 34949611 C T SNP ANKS1A ENST00000360359 human ensembl 74_37 +1 known nonsense c.580 p.R194* 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 123 0 0 76 11 12.6437 KIF6 0 genome.wustl.edu 37 6 39563910 39563910 + Nonsense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 6 39563910 39563910 G A SNP KIF6 ENST00000287152 human ensembl 74_37 -1 known nonsense c.766 p.R256* 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 90 0 0 100 6 5.66038 COG5 0 genome.wustl.edu 37 7 107204405 107204405 + Missense_Mutation SNP A A C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 7 107204405 107204405 A C SNP COG5 ENST00000297135 human ensembl 74_37 -1 known missense c.30 p.D10E 0.006 NULL pfam_Cog5 - no_errors COG5 HGNC ENSG00000164597 26 0 0 11 4 26.6667 TMEM209 0 genome.wustl.edu 37 7 129825119 129825119 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 7 129825119 129825119 C T SNP TMEM209 ENST00000397622 human ensembl 74_37 -1 known silent c.864 p.K288 1.000 pfam_Cytochrome_B561-rel pfam_Cytochrome_B561-rel - no_errors TMEM209 HGNC ENSG00000146842 98 0 0 79 22 21.7822 CALD1 0 genome.wustl.edu 37 7 134552501 134552501 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 7 134552501 134552501 G A SNP CALD1 ENST00000361388 human ensembl 74_37 +1 known missense c.17 p.R6H 1.000 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 23 0 0 13 7 35 CASP2 0 genome.wustl.edu 37 7 143002038 143002038 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 7 143002038 143002038 C T SNP CASP2 ENST00000310447 human ensembl 74_37 +1 known silent c.1233 p.N411 0.307 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_p10 pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP2 HGNC ENSG00000106144 55 0 0 42 11 20.7547 KMT2C 0 genome.wustl.edu 37 7 151962186 151962186 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 7 151962186 151962186 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.1121 p.A374V 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger,pfscan_Znf_RING pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 498 0 0 389 23 5.58252 TRIL 0 genome.wustl.edu 37 7 28996212 28996212 + RNA SNP A A G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 7 28996212 28996212 A G SNP TRIL ENST00000322982 human ensembl 74_37 -1 known rna NULL NULL 0.320 - - - no_errors TRIL HGNC ENSG00000176734 24 0 0 19 4 17.3913 TBX20 0 genome.wustl.edu 37 7 35288323 35288323 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 7 35288323 35288323 C T SNP TBX20 ENST00000408931 human ensembl 74_37 -1 known missense c.511 p.V171M 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC ENSG00000164532 115 0 0 77 19 19.7917 TBX20 0 genome.wustl.edu 37 7 35293169 35293169 + Silent SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 7 35293169 35293169 G A SNP TBX20 ENST00000408931 human ensembl 74_37 -1 known silent c.63 p.A21 0.882 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC ENSG00000164532 87 0 0 56 7 11.1111 COBL 0 genome.wustl.edu 37 7 51203910 51203910 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 7 51203910 51203910 C T SNP COBL ENST00000395542 human ensembl 74_37 -1 known missense c.977 p.R326Q 0.993 pfam_Cordon-bleu_ubiquitin_domain pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 65 0 0 91 8 8.08081 SRCRB4D 0 genome.wustl.edu 37 7 76027010 76027010 + Silent SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 7 76027010 76027010 G A SNP SRCRB4D ENST00000275560 human ensembl 74_37 -1 known silent c.693 p.G231 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors SRCRB4D HGNC ENSG00000146700 50 0 0 26 17 39.5349 ZFPM2 0 genome.wustl.edu 37 8 106814329 106814329 + Silent SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 106814329 106814329 C A SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known silent c.2019 p.P673 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 41 0 0 19 6 24 MYC 0 genome.wustl.edu 37 8 128753157 128753157 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 128753157 128753157 G A SNP MYC ENST00000377970 human ensembl 74_37 +1 known missense c.1318 p.E440K 0.995 pfam_Myc-LZ,superfamily_bHLH_dom pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYC HGNC ENSG00000136997 113 0 0 83 9 9.78261 TG 0 genome.wustl.edu 37 8 133980206 133980206 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 133980206 133980206 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.5854 p.R1952W 0.950 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 42 0 0 26 12 31.5789 KCNK9 0 genome.wustl.edu 37 8 140714996 140714996 + Silent SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 140714996 140714996 G A SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known silent c.240 p.F80 1.000 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 24 0 0 34 6 15 BAI1 0 genome.wustl.edu 37 8 143614735 143614735 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 143614735 143614735 C T SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.3478 p.R1160C 1.000 pfam_GPCR_2_secretin-like,prints_GPCR_2_brain-spec_angio_inhib,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 26 0 0 26 4 13.3333 PCM1 0 genome.wustl.edu 37 8 17843544 17843544 + Missense_Mutation SNP T T G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 17843544 17843544 T G SNP PCM1 ENST00000325083 human ensembl 74_37 +1 known missense c.4358 p.I1453R 1.000 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 42 0 0 24 8 25 HOOK3 0 genome.wustl.edu 37 8 42823234 42823234 + Silent SNP A A G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 42823234 42823234 A G SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known silent c.999 p.L333 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 53 0 0 50 8 13.7931 HOOK3 0 genome.wustl.edu 37 8 42852738 42852738 + Missense_Mutation SNP A A C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 42852738 42852738 A C SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known missense c.1578 p.E526D 0.980 pfam_Hook-related_fam,superfamily_t-SNARE pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 29 0 0 21 79 79 HOOK3 0 genome.wustl.edu 37 8 42852746 42852746 + Missense_Mutation SNP A A T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 42852746 42852746 A T SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known missense c.1586 p.K529I 1.000 pfam_Hook-related_fam,superfamily_t-SNARE pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 27 0 0 22 68 75.5556 XKR5 0 genome.wustl.edu 37 8 6682776 6682776 + RNA SNP C C G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 6682776 6682776 C G SNP XKR5 ENST00000405979 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors XKR5 HGNC ENSG00000186530 50 0 0 69 9 11.5385 XKR5 0 genome.wustl.edu 37 8 6682818 6682818 + RNA SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 6682818 6682818 C A SNP XKR5 ENST00000405979 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XKR5 HGNC ENSG00000186530 20 0 0 36 4 10 MSC 0 genome.wustl.edu 37 8 72756341 72756341 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 72756341 72756341 C T SNP MSC ENST00000325509 human ensembl 74_37 -1 known missense c.73 p.A25T 0.841 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MSC HGNC ENSG00000178860 62 0 0 38 8 17.3913 ZFHX4 0 genome.wustl.edu 37 8 77618657 77618657 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 77618657 77618657 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.2334 p.V778 0.657 smart_Znf_C2H2-like pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 34 0 0 25 21 45.6522 SLC26A7 0 genome.wustl.edu 37 8 92307918 92307918 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 8 92307918 92307918 G A SNP SLC26A7 ENST00000309536 human ensembl 74_37 +1 known missense c.464 p.G155E 1.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 54 0 0 45 9 16.6667 COL15A1 0 genome.wustl.edu 37 9 101749583 101749583 + Missense_Mutation SNP T T G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 9 101749583 101749583 T G SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known missense c.656 p.L219R 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 262 0 0 178 26 12.7451 C8G 0 genome.wustl.edu 37 9 139840619 139840619 + Silent SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 9 139840619 139840619 G A SNP C8G ENST00000224181 human ensembl 74_37 +1 known silent c.429 p.A143 0.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_A1-microglobln,prints_Lipocalin - no_errors C8G HGNC ENSG00000176919 46 0 0 32 10 23.8095 CDKN2A 0 genome.wustl.edu 37 9 21971138 21971138 + Missense_Mutation SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 9 21971138 21971138 C A SNP CDKN2A ENST00000361570 human ensembl 74_37 -1 known missense c.386 p.R129L 1.000 NULL pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC ENSG00000147889 19 0 0 14 6 30 VLDLR 0 genome.wustl.edu 37 9 2639982 2639982 + Splice_Site SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 9 2639982 2639982 G A SNP VLDLR ENST00000382100 human ensembl 74_37 +1 known splice_site c.325+1 e3+1 1.000 - - - no_errors VLDLR HGNC ENSG00000147852 192 0 0 93 34 26.7717 TRPM3 0 genome.wustl.edu 37 9 73230949 73230949 + Nonsense_Mutation SNP C C A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 9 73230949 73230949 C A SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known nonsense c.2446 p.E816* 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 42 0 0 16 7 30.4348 SPATA31D5P 0 genome.wustl.edu 37 9 84532037 84532037 + RNA SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 9 84532037 84532037 C T SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D5P HGNC ENSG00000240632 65 0 0 32 9 21.9512 TCEAL2 0 genome.wustl.edu 37 X 101382431 101382431 + Missense_Mutation SNP T T A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 101382431 101382431 T A SNP TCEAL2 ENST00000329035 human ensembl 74_37 +1 known missense c.629 p.F210Y 0.001 NULL pfam_TF_A-like/BEX-like - no_errors TCEAL2 HGNC ENSG00000184905 105 0 0 76 20 20.8333 GPR101 0 genome.wustl.edu 37 X 136113448 136113448 + Missense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 136113448 136113448 C T SNP GPR101 ENST00000298110 human ensembl 74_37 -1 known missense c.386 p.R129H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 29 0 0 23 4 14.8148 CDR1 0 genome.wustl.edu 37 X 139865920 139865920 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 139865920 139865920 C T SNP CDR1 ENST00000370532 human ensembl 74_37 -1 known silent c.612 p.K204 1.000 NULL NULL - no_errors CDR1 HGNC ENSG00000184258 116 0 0 79 21 21 SLITRK2 0 genome.wustl.edu 37 X 144906326 144906326 + Nonsense_Mutation SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 144906326 144906326 C T SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known nonsense c.2383 p.Q795* 1.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 88 0 0 75 18 19.3548 AFF2 0 genome.wustl.edu 37 X 147744269 147744269 + Missense_Mutation SNP A A G TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 147744269 147744269 A G SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.1021 p.T341A 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 37 0 0 22 9 29.0323 KDM5C 0 genome.wustl.edu 37 X 53240002 53240002 + Missense_Mutation SNP G G T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 53240002 53240002 G T SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.1439 p.P480Q 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 22 0 0 15 8 34.7826 SHOX 0 genome.wustl.edu 37 X 595377 595377 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 595377 595377 G A SNP SHOX ENST00000381578 human ensembl 74_37 +1 known missense c.302 p.R101H 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors SHOX HGNC ENSG00000185960 56 0 0 40 6 13.0435 PHKA1 0 genome.wustl.edu 37 X 71933705 71933705 + Silent SNP C C T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 71933705 71933705 C T SNP PHKA1 ENST00000373539 human ensembl 74_37 -1 known silent c.24 p.G8 0.101 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 21 0 0 10 10 50 BRWD3 0 genome.wustl.edu 37 X 79942372 79942372 + Missense_Mutation SNP A A C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 79942372 79942372 A C SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known missense c.3995 p.L1332R 0.849 superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 38 0 0 28 7 20 CYLC1 0 genome.wustl.edu 37 X 83128280 83128280 + Silent SNP T T C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 83128280 83128280 T C SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known silent c.564 p.S188 0.000 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 26 0 0 22 6 21.4286 KLHL4 0 genome.wustl.edu 37 X 86868966 86868966 + Missense_Mutation SNP G G A TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 X 86868966 86868966 G A SNP KLHL4 ENST00000373114 human ensembl 74_37 +1 known missense c.509 p.R170H 0.016 superfamily_BTB/POZ_fold pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 64 0 0 43 17 28.3333 UBR4 0 genome.wustl.edu 37 1 19447901 19447902 + Frame_Shift_Ins INS - - T TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 1 19447901 19447902 - T INS UBR4 ENST00000375267 human ensembl 74_37 -1 known frame_shift_ins c.9923_9922 p.S3308fs 1.000:1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 87 0 0 65 7 9.72222 PTEN 0 genome.wustl.edu 37 10 89720799 89720802 + Frame_Shift_Del DEL TACT TACT - TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 TACT TACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 10 89720799 89720802 TACT - DEL PTEN ENST00000371953 human ensembl 74_37 +1 known frame_shift_del c.950_953 p.T319fs 1.000:1.000:1.000:1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 173 0 0 76 25 24.7525 GLTSCR1 0 genome.wustl.edu 37 19 48197890 48197891 + Frame_Shift_Ins INS - - C TCGA-R5-A7O7-01A-11D-A33T-08 TCGA-R5-A7O7-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 50e0a6da-bd51-4c48-b16a-4266494501ec 117ba100-9840-4da8-b704-1d08316ee099 19 48197890 48197891 - C INS GLTSCR1 ENST00000396720 human ensembl 74_37 +1 known frame_shift_ins c.2802_2803 p.P937fs 0.044:0.226 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 44 0 0 34 9 20.9302