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 ENSG00000241720 0 genome.wustl.edu 37 1 110279764 110279764 + Splice_Site SNP G G T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 1 110279764 110279764 G T SNP ENSG00000241720 ENST00000431955 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors RP4-735C1.4 Clone_based_vega_gene ENSG00000241720 137 1 0.724638 92 36 28.125 SV2A 0 genome.wustl.edu 37 1 149885391 149885391 + Missense_Mutation SNP A A G TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 1 149885391 149885391 A G SNP SV2A ENST00000369146 human ensembl 74_37 -1 known missense c.2 p.M1T 1.000 tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 152 1 0.653595 78 50 39.0625 CD1C 0 genome.wustl.edu 37 1 158262407 158262407 + Missense_Mutation SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 1 158262407 158262407 C T SNP CD1C ENST00000368170 human ensembl 74_37 +1 known missense c.632 p.S211F 0.989 pfscan_Ig-like_dom pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1C HGNC ENSG00000158481 101 0 0 86 26 23.2143 SPEN 0 genome.wustl.edu 37 1 16260606 16260606 + Missense_Mutation SNP G G A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 1 16260606 16260606 G A SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.7871 p.R2624Q 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 282 0 0 176 79 30.9804 CFHR5 0 genome.wustl.edu 37 1 196964971 196964971 + Silent SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 1 196964971 196964971 C T SNP CFHR5 ENST00000367414 human ensembl 74_37 +1 known silent c.804 p.N268 0.005 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 118 0 0 110 14 11.2903 CRB1 0 genome.wustl.edu 37 1 197403842 197403842 + Missense_Mutation SNP C C A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 1 197403842 197403842 C A SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.2849 p.A950E 0.993 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 167 0 0 100 44 30.5556 USP48 0 genome.wustl.edu 37 1 22073598 22073598 + Nonsense_Mutation SNP G G C TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 1 22073598 22073598 G C SNP USP48 ENST00000308271 human ensembl 74_37 -1 known nonsense c.953 p.S318* 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 113 0 0 64 20 23.8095 ACTN2 0 genome.wustl.edu 37 1 236906280 236906280 + Missense_Mutation SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 1 236906280 236906280 C T SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1192 p.R398C 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 98 0 0 64 32 33.3333 OR1C1 0 genome.wustl.edu 37 1 247921586 247921586 + Silent SNP C C A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 1 247921586 247921586 C A SNP OR1C1 ENST00000408896 human ensembl 74_37 -1 known silent c.123 p.G41 0.583 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 OR1C1 HGNC ENSG00000221888 58 0 0 33 13 28.2609 C8B 0 genome.wustl.edu 37 1 57415241 57415241 + Missense_Mutation SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 1 57415241 57415241 C T SNP C8B ENST00000371237 human ensembl 74_37 -1 known missense c.851 p.R284Q 0.542 pfam_MACPF pfam_MACPF,pfam_LDrepeatLR_classA_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 C8B HGNC ENSG00000021852 136 0 0 70 31 30.6931 COL17A1 0 genome.wustl.edu 37 10 105830281 105830281 + Silent SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 10 105830281 105830281 C T SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known silent c.510 p.S170 0.342 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 160 0 0 104 44 29.7297 PCDH15 0 genome.wustl.edu 37 10 55582826 55582826 + Missense_Mutation SNP G G T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 10 55582826 55582826 G T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.4660 p.P1554T 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 334 0 0 215 79 26.8707 BICC1 0 genome.wustl.edu 37 10 60566791 60566791 + Missense_Mutation SNP A A C TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 10 60566791 60566791 A C SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.2249 p.E750A 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 183 0 0 102 39 27.6596 PFKFB3 0 genome.wustl.edu 37 10 6265969 6265969 + Missense_Mutation SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 10 6265969 6265969 C T SNP PFKFB3 ENST00000540253 human ensembl 74_37 +1 known missense c.1304 p.T435M 0.999 pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB3 HGNC ENSG00000170525 205 0 0 129 67 34.1837 DSCAML1 0 genome.wustl.edu 37 11 117301568 117301568 + Silent SNP G G A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 11 117301568 117301568 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.5736 p.A1912 0.039 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 350 1 0.2849 236 90 27.6074 SLC22A10 0 genome.wustl.edu 37 11 63072184 63072184 + Missense_Mutation SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 11 63072184 63072184 C T SNP SLC22A10 ENST00000332793 human ensembl 74_37 +1 known missense c.1421 p.T474M 0.001 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 220 0 0 155 48 23.6453 C12orf42 0 genome.wustl.edu 37 12 103696020 103696020 + Missense_Mutation SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 12 103696020 103696020 C T SNP C12orf42 ENST00000378113 human ensembl 74_37 -1 known missense c.949 p.G317S 0.001 NULL NULL - no_errors C12orf42 HGNC ENSG00000179088 94 0 0 50 24 32.4324 CACNA2D4 0 genome.wustl.edu 37 12 2024076 2024076 + Missense_Mutation SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 12 2024076 2024076 C T SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known missense c.253 p.G85S 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 63 0 0 63 21 25 CHD4 0 genome.wustl.edu 37 12 6700638 6700638 + Missense_Mutation SNP A A G TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 12 6700638 6700638 A G SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.3334 p.F1112L 1.000 pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 197 0 0 117 61 34.2697 C1S 0 genome.wustl.edu 37 12 7177629 7177629 + Missense_Mutation SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 12 7177629 7177629 C T SNP C1S ENST00000328916 human ensembl 74_37 +1 known missense c.1741 p.R581C 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C1S HGNC ENSG00000182326 85 0 0 70 26 27.0833 BRCA2 0 genome.wustl.edu 37 13 32912230 32912230 + Silent SNP T T C TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 13 32912230 32912230 T C SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known silent c.3738 p.N1246 0.000 pfam_BRCA2_repeat,pirsf_BRCA2,pfscan_BRCA2_repeat pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 127 0 0 57 30 34.4828 FOXO1 0 genome.wustl.edu 37 13 41134410 41134410 + Silent SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 13 41134410 41134410 C T SNP FOXO1 ENST00000379561 human ensembl 74_37 -1 known silent c.1218 p.S406 0.002 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO1 HGNC ENSG00000150907 229 1 0.434783 153 70 31.3901 VWA8 0 genome.wustl.edu 37 13 42442594 42442594 + Missense_Mutation SNP G G A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 13 42442594 42442594 G A SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.1100 p.S367L 0.974 superfamily_P-loop_NTPase pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 92 0 0 66 36 35.2941 NFATC4 0 genome.wustl.edu 37 14 24841805 24841805 + Missense_Mutation SNP T T C TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 14 24841805 24841805 T C SNP NFATC4 ENST00000413692 human ensembl 74_37 +1 known missense c.1544 p.V515A 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NFAT pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 58 0 0 43 15 25.8621 FBXO34 0 genome.wustl.edu 37 14 55818091 55818091 + Missense_Mutation SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 14 55818091 55818091 C T SNP FBXO34 ENST00000313833 human ensembl 74_37 +1 known missense c.983 p.T328I 0.001 NULL superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO34 HGNC ENSG00000178974 162 0 0 104 64 38.0952 ADAM21 0 genome.wustl.edu 37 14 70924424 70924424 + Missense_Mutation SNP C C G TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 14 70924424 70924424 C G SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known missense c.208 p.Q70E 0.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 399 0 0 251 67 21.0692 APBA2 0 genome.wustl.edu 37 15 29398846 29398846 + Missense_Mutation SNP G G A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 15 29398846 29398846 G A SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known missense c.1741 p.V581M 0.993 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 83 0 0 33 17 34 RYR3 0 genome.wustl.edu 37 15 33855070 33855070 + Missense_Mutation SNP G G T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 15 33855070 33855070 G T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.1005 p.K335N 0.998 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 72 0 0 63 9 12.5 IGDCC4 0 genome.wustl.edu 37 15 65693267 65693267 + Missense_Mutation SNP T T A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 15 65693267 65693267 T A SNP IGDCC4 ENST00000352385 human ensembl 74_37 -1 novel missense c.718 p.R240W 0.051 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC4 HGNC ENSG00000103742 158 0 0 120 38 24.0506 SPESP1 0 genome.wustl.edu 37 15 69238039 69238039 + Missense_Mutation SNP A A G TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 15 69238039 69238039 A G SNP SPESP1 ENST00000310673 human ensembl 74_37 +1 known missense c.166 p.K56E 0.000 NULL NULL - no_errors SPESP1 HGNC ENSG00000258484 199 1 0.5 149 34 18.5792 EFTUD1 0 genome.wustl.edu 37 15 82523297 82523297 + Silent SNP G G A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 15 82523297 82523297 G A SNP EFTUD1 ENST00000268206 human ensembl 74_37 -1 known silent c.747 p.A249 0.462 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 190 0 0 138 50 26.5957 FES 0 genome.wustl.edu 37 15 91432780 91432780 + Missense_Mutation SNP C C A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 15 91432780 91432780 C A SNP FES ENST00000328850 human ensembl 74_37 +1 known missense c.840 p.F280L 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FES HGNC ENSG00000182511 219 1 0.454545 181 60 24.8963 LONP2 0 genome.wustl.edu 37 16 48286217 48286217 + Missense_Mutation SNP T T A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 16 48286217 48286217 T A SNP LONP2 ENST00000285737 human ensembl 74_37 +1 known missense c.409 p.C137S 0.000 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP2 HGNC ENSG00000102910 72 0 0 50 3 5.66038 SALL1 0 genome.wustl.edu 37 16 51173663 51173663 + Missense_Mutation SNP A A C TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 16 51173663 51173663 A C SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.2470 p.F824V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 344 0 0 230 91 28.3489 MAP2K4 0 genome.wustl.edu 37 17 12043181 12043181 + Missense_Mutation SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 17 12043181 12043181 C T SNP MAP2K4 ENST00000415385 human ensembl 74_37 +1 known missense c.1099 p.P367S 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 MAP2K4 HGNC ENSG00000065559 336 0 0 181 62 25.5144 MTMR4 0 genome.wustl.edu 37 17 56569162 56569162 + Silent SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 17 56569162 56569162 C T SNP MTMR4 ENST00000323456 human ensembl 74_37 -1 known silent c.3450 p.L1150 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR4 HGNC ENSG00000108389 102 0 0 59 27 31.3953 BPTF 0 genome.wustl.edu 37 17 65899995 65899995 + Silent SNP A A G TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 17 65899995 65899995 A G SNP BPTF ENST00000321892 human ensembl 74_37 +1 known silent c.3012 p.Q1004 0.975 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 125 0 0 56 31 35.6322 METTL4 0 genome.wustl.edu 37 18 2544689 2544689 + Silent SNP G G A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 18 2544689 2544689 G A SNP METTL4 ENST00000574538 human ensembl 74_37 -1 known silent c.1144 p.L382 0.929 pfam_MT-A70-like,pfscan_MT-A70-like pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL4 HGNC ENSG00000101574 159 1 0.625 112 62 35.6322 ASXL3 0 genome.wustl.edu 37 18 31263444 31263444 + Missense_Mutation SNP G G A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 18 31263444 31263444 G A SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.791 p.R264K 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 61 0 0 42 16 27.5862 MAN2B1 0 genome.wustl.edu 37 19 12767489 12767489 + Missense_Mutation SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 19 12767489 12767489 C T SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known missense c.1540 p.V514I 0.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 146 0 0 105 47 30.9211 TMEM59L 0 genome.wustl.edu 37 19 18727858 18727858 + Missense_Mutation SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 19 18727858 18727858 C T SNP TMEM59L ENST00000262817 human ensembl 74_37 +1 known missense c.610 p.R204C 1.000 pfam_Uncharacterised_TMEM59 pfam_Uncharacterised_TMEM59 - no_errors TMEM59L HGNC ENSG00000105696 142 0 0 76 44 36.6667 KMT2B 0 genome.wustl.edu 37 19 36215974 36215974 + Missense_Mutation SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 19 36215974 36215974 C T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.3514 p.R1172C 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 68 0 0 49 21 30 KMT2B 0 genome.wustl.edu 37 19 36216527 36216527 + Splice_Site SNP G G A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 19 36216527 36216527 G A SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known splice_site c.3789+1 e12+1 1.000 - - - no_errors KMT2B Uniprot_gn ENSG00000272333 104 0 0 73 44 37.6068 CEACAM4 0 genome.wustl.edu 37 19 42128059 42128059 + Silent SNP G G A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 19 42128059 42128059 G A SNP CEACAM4 ENST00000221954 human ensembl 74_37 -1 known silent c.507 p.A169 0.001 NULL pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors CEACAM4 HGNC ENSG00000105352 40 0 0 39 13 25 CCDC94 0 genome.wustl.edu 37 19 4249236 4249236 + Silent SNP G G A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 19 4249236 4249236 G A SNP CCDC94 ENST00000262962 human ensembl 74_37 +1 known silent c.36 p.P12 0.008 pfam_CWC16 pfam_CWC16 - no_errors CCDC94 HGNC ENSG00000105248 38 0 0 27 16 37.2093 PSG2 0 genome.wustl.edu 37 19 43585204 43585204 + Missense_Mutation SNP G G C TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 19 43585204 43585204 G C SNP PSG2 ENST00000406487 human ensembl 74_37 -1 known missense c.259 p.Q87E 0.001 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG2 HGNC ENSG00000242221 636 0 0 395 74 15.7783 KLK8 0 genome.wustl.edu 37 19 51503769 51503769 + Silent SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 19 51503769 51503769 C T SNP KLK8 ENST00000391806 human ensembl 74_37 -1 known silent c.276 p.Q92 0.965 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK8 HGNC ENSG00000129455 116 0 0 79 40 33.6134 ZNF584 0 genome.wustl.edu 37 19 58928997 58928997 + Missense_Mutation SNP G G A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 19 58928997 58928997 G A SNP ZNF584 ENST00000306910 human ensembl 74_37 +1 known missense c.1112 p.R371Q 0.067 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 ZNF584 HGNC ENSG00000171574 93 0 0 83 8 8.79121 ACVR2A 0 genome.wustl.edu 37 2 148680566 148680566 + Missense_Mutation SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 2 148680566 148680566 C T SNP ACVR2A ENST00000241416 human ensembl 74_37 +1 known missense c.1102 p.P368S 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,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 361 0 0 197 13 6.19048 ORC4 0 genome.wustl.edu 37 2 148701062 148701062 + Silent SNP T T C TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 2 148701062 148701062 T C SNP ORC4 ENST00000264169 human ensembl 74_37 -1 known silent c.792 p.E264 0.998 pirsf_ORC4 pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_ORC4 - no_errors ORC4 HGNC ENSG00000115947 88 0 0 56 3 5.08475 TTN 0 genome.wustl.edu 37 2 179642243 179642243 + Missense_Mutation SNP T T C TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 2 179642243 179642243 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.4549 p.I1517V 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 68 0 0 34 3 8.10811 NCL 0 genome.wustl.edu 37 2 232326384 232326384 + Silent SNP G G A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 2 232326384 232326384 G A SNP NCL ENST00000322723 human ensembl 74_37 -1 known silent c.480 p.D160 0.258 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 87 0 0 64 19 22.8916 RNPEPL1 0 genome.wustl.edu 37 2 241516317 241516317 + Missense_Mutation SNP C C G TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 2 241516317 241516317 C G SNP RNPEPL1 ENST00000270357 human ensembl 74_37 +1 known missense c.1101 p.N367K 0.979 pfam_Peptidase_M1_C,superfamily_ARM-type_fold pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEPL1 HGNC ENSG00000142327 100 0 0 68 25 26.8817 C2orf71 0 genome.wustl.edu 37 2 29295778 29295778 + Silent SNP C C A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 2 29295778 29295778 C A SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known silent c.1350 p.L450 0.000 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 181 0 0 138 8 5.47945 ASXL1 0 genome.wustl.edu 37 20 31022999 31022999 + Silent SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 20 31022999 31022999 C T SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known silent c.2484 p.G828 0.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 333 0 0 210 82 28.0822 CCDC14 0 genome.wustl.edu 37 3 123667796 123667796 + Missense_Mutation SNP T T C TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 3 123667796 123667796 T C SNP CCDC14 ENST00000488653 human ensembl 74_37 -1 known missense c.680 p.K227R 0.863 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 73 0 0 40 22 35.4839 SCN5A 0 genome.wustl.edu 37 3 38628904 38628904 + Missense_Mutation SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 3 38628904 38628904 C T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.2423 p.R808H 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 48 0 0 20 12 37.5 WDR6 0 genome.wustl.edu 37 3 49051460 49051460 + Missense_Mutation SNP T T A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 3 49051460 49051460 T A SNP WDR6 ENST00000395474 human ensembl 74_37 +1 known missense c.2583 p.H861Q 0.196 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 121 0 0 94 44 31.8841 RHOA 0 genome.wustl.edu 37 3 49412898 49412898 + Missense_Mutation SNP T T G TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 3 49412898 49412898 T G SNP RHOA ENST00000418115 human ensembl 74_37 -1 known missense c.125 p.Y42S 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 303 0 0 179 70 28.1124 ROBO1 0 genome.wustl.edu 37 3 78683085 78683085 + Missense_Mutation SNP C C A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 3 78683085 78683085 C A SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.3481 p.G1161W 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 166 0 0 79 26 24.7619 MTTP 0 genome.wustl.edu 37 4 100522851 100522851 + Missense_Mutation SNP A A C TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 4 100522851 100522851 A C SNP MTTP ENST00000265517 human ensembl 74_37 +1 known missense c.1324 p.N442H 0.986 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 207 0 0 143 56 28.1407 ANK2 0 genome.wustl.edu 37 4 114277913 114277913 + Silent SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 4 114277913 114277913 C T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.8139 p.V2713 0.000 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 ANK2 HGNC ENSG00000145362 207 0 0 130 56 30.1075 FAT4 0 genome.wustl.edu 37 4 126373396 126373396 + Missense_Mutation SNP C C A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 4 126373396 126373396 C A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.11225 p.T3742K 0.993 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 290 1 0.343643 209 92 30.5648 TENM3 0 genome.wustl.edu 37 4 183675803 183675803 + Missense_Mutation SNP G G A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 4 183675803 183675803 G A SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.4283 p.R1428Q 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 79 0 0 42 19 31.1475 FBN2 0 genome.wustl.edu 37 5 127673797 127673797 + Missense_Mutation SNP G G A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 5 127673797 127673797 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.3490 p.R1164C 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 57 0 0 43 20 31.746 CTNNA1 0 genome.wustl.edu 37 5 138268343 138268343 + Missense_Mutation SNP T T A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 5 138268343 138268343 T A SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known missense c.2375 p.I792N 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 53 0 0 13 27 67.5 DNAH5 0 genome.wustl.edu 37 5 13919406 13919406 + Missense_Mutation SNP G G A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 5 13919406 13919406 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.854 p.A285V 1.000 pfam_Dynein_heavy_dom-1 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 337 0 0 249 101 28.8571 PCDHB5 0 genome.wustl.edu 37 5 140517125 140517125 + Silent SNP G G A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 5 140517125 140517125 G A SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known silent c.2109 p.S703 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 231 0 0 134 64 32.3232 BHMT 0 genome.wustl.edu 37 5 78417142 78417142 + Missense_Mutation SNP G G T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 5 78417142 78417142 G T SNP BHMT ENST00000274353 human ensembl 74_37 +1 known missense c.579 p.L193F 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT HGNC ENSG00000145692 153 0 0 71 35 33.0189 GPR98 0 genome.wustl.edu 37 5 89989834 89989834 + Missense_Mutation SNP C C A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 5 89989834 89989834 C A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.7261 p.P2421T 0.635 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 64 0 0 32 24 42.8571 EPB41L2 0 genome.wustl.edu 37 6 131225628 131225628 + Silent SNP A A C TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 6 131225628 131225628 A C SNP EPB41L2 ENST00000337057 human ensembl 74_37 -1 known silent c.906 p.S302 0.990 pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 122 0 0 75 32 29.9065 C6orf118 0 genome.wustl.edu 37 6 165711567 165711567 + Silent SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 6 165711567 165711567 C T SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known silent c.960 p.A320 0.003 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 80 0 0 55 15 21.4286 CDKAL1 0 genome.wustl.edu 37 6 20781484 20781484 + Missense_Mutation SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 6 20781484 20781484 C T SNP CDKAL1 ENST00000274695 human ensembl 74_37 +1 known missense c.626 p.S209F 1.000 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase - no_errors CDKAL1 HGNC ENSG00000145996 114 0 0 96 36 27.2727 PGBD1 0 genome.wustl.edu 37 6 28254891 28254891 + Missense_Mutation SNP A A C TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 6 28254891 28254891 A C SNP PGBD1 ENST00000259883 human ensembl 74_37 +1 known missense c.588 p.E196D 0.066 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 115 0 0 75 29 27.8846 ELOVL5 0 genome.wustl.edu 37 6 53140993 53140993 + Missense_Mutation SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 6 53140993 53140993 C T SNP ELOVL5 ENST00000541407 human ensembl 74_37 -1 known missense c.389 p.G130E 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL5 HGNC ENSG00000012660 80 0 0 56 22 28.2051 RIMS1 0 genome.wustl.edu 37 6 73100419 73100419 + Missense_Mutation SNP A A G TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 6 73100419 73100419 A G SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.4486 p.S1496G 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 69 0 0 46 18 28.125 OOEP 0 genome.wustl.edu 37 6 74079495 74079495 + Silent SNP G G A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 6 74079495 74079495 G A SNP OOEP ENST00000370359 human ensembl 74_37 -1 known silent c.21 p.A7 0.000 NULL NULL - no_errors OOEP HGNC ENSG00000203907 98 0 0 74 24 24.4898 OSBPL3 0 genome.wustl.edu 37 7 24873987 24873987 + Missense_Mutation SNP C C T TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 7 24873987 24873987 C T SNP OSBPL3 ENST00000409452 human ensembl 74_37 -1 known missense c.1864 p.V622I 0.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 65 0 0 43 16 27.1186 MSR1 0 genome.wustl.edu 37 8 16021714 16021714 + Missense_Mutation SNP A A G TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 8 16021714 16021714 A G SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known missense c.677 p.I226T 0.967 superfamily_STAT_TF_coiled-coil,prints_Macro_scav_rcpt pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 136 0 0 81 33 28.9474 NEFM 0 genome.wustl.edu 37 8 24771361 24771361 + Missense_Mutation SNP G G A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 8 24771361 24771361 G A SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.55 p.E19K 1.000 pfam_Intermed_filament_DNA-bd pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 16 0 0 12 12 50 TLE4 0 genome.wustl.edu 37 9 82267638 82267638 + Missense_Mutation SNP G G C TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 9 82267638 82267638 G C SNP TLE4 ENST00000376520 human ensembl 74_37 +1 known missense c.521 p.S174T 1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 197 0 0 126 61 32.6203 C1GALT1C1 0 genome.wustl.edu 37 X 119760593 119760593 + Silent SNP T T C TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd X 119760593 119760593 T C SNP C1GALT1C1 ENST00000304661 human ensembl 74_37 -1 known silent c.429 p.A143 0.981 NULL NULL - no_errors C1GALT1C1 HGNC ENSG00000171155 151 0 0 42 93 68.8889 THOC2 0 genome.wustl.edu 37 X 122829933 122829933 + Missense_Mutation SNP C C A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd X 122829933 122829933 C A SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known missense c.539 p.G180V 1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 72 0 0 51 3 5.55556 RBBP7 0 genome.wustl.edu 37 X 16876898 16876898 + Missense_Mutation SNP G G A TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd X 16876898 16876898 G A SNP RBBP7 ENST00000380087 human ensembl 74_37 -1 known missense c.382 p.R128C 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RBBP7 HGNC ENSG00000102054 161 0 0 56 78 58.209 PIGR 0 genome.wustl.edu 37 1 207105834 207105835 + Frame_Shift_Ins INS - - CA TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 1 207105834 207105835 - CA INS PIGR ENST00000356495 human ensembl 74_37 -1 known frame_shift_ins c.1975_1974 p.G658fs 0.001:0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PIGR HGNC ENSG00000162896 113 0 0 99 10 9.17431 C4orf50 0 genome.wustl.edu 37 4 5975538 5975538 + Frame_Shift_Del DEL G G - TCGA-CG-5720-01A-11D-1600-08 TCGA-CG-5720-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 860f8b7e-9705-4078-8cbb-bd27012cb95f 29503ca2-3a73-47a6-ab23-d8e6c82751bd 4 5975538 5975538 G - DEL C4orf50 ENST00000531445 human ensembl 74_37 -1 known frame_shift_del c.1678 p.R560fs 0.087 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 65 0 0 50 16 24.2424