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 A4GALT 0 genome.wustl.edu 37 22 43089313 43089313 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 22 43089313 43089313 G A SNP A4GALT ENST00000249005 human ensembl 74_37 -1 known silent c.645 p.V215 0.987 NULL pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS - no_errors A4GALT HGNC ENSG00000128274 tier1 - - 20 0 0.00 15 24 61.54 AASS 0 genome.wustl.edu 37 7 121753716 121753716 + Nonsense_Mutation SNP C C A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 7 121753716 121753716 C A SNP AASS ENST00000393376 human ensembl 74_37 -1 known nonsense c.1102 p.E368* 1.000 pfam_AlaDH/PNT_NAD(H)-bd pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 16 0 0.00 27 2 6.90 ABCA12 0 genome.wustl.edu 37 2 215821415 215821415 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 215821415 215821415 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.6205 p.A2069T 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 21 0 0.00 49 25 33.78 ABCG8 0 genome.wustl.edu 37 2 44104795 44104795 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 44104795 44104795 G A SNP ABCG8 ENST00000272286 human ensembl 74_37 +1 known missense c.1852 p.G618R 0.787 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ENSG00000143921 tier1 rs200005264 - 24 0 0.00 45 10 18.18 ACTA2 0 genome.wustl.edu 37 10 90697872 90697872 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 10 90697872 90697872 G A SNP ACTA2 ENST00000224784 human ensembl 74_37 -1 known silent c.936 p.A312 0.016 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA2 HGNC ENSG00000107796 24 0 0.00 69 4 5.48 ACTN2 0 genome.wustl.edu 37 1 236908054 236908054 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 236908054 236908054 G T SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1384 p.A462S 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin 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 tier1 - - 13 0 0.00 33 15 31.25 ADAMTS9 0 genome.wustl.edu 37 3 64672417 64672417 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 64672417 64672417 C T SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.343 p.A115T 1.000 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 14 0 0.00 57 3 5.00 ADCY2 0 genome.wustl.edu 37 5 7802384 7802384 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 5 7802384 7802384 G A SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known silent c.2682 p.P894 0.961 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 9 0 0.00 73 4 5.19 AGPAT4 0 genome.wustl.edu 37 6 161653235 161653235 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 6 161653235 161653235 G A SNP AGPAT4 ENST00000320285 human ensembl 74_37 -1 known missense c.11 p.A4V 0.001 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT4 HGNC ENSG00000026652 10 0 0.00 19 3 13.64 AHCYL1 0 genome.wustl.edu 37 1 110527695 110527695 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 110527695 110527695 G T SNP AHCYL1 ENST00000369799 human ensembl 74_37 +1 known missense c.21 p.M7I 1.000 NULL pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCYL1 HGNC ENSG00000168710 9 0 0.00 51 7 12.07 AKT1S1 0 genome.wustl.edu 37 19 50381506 50381506 + RNA SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 19 50381506 50381506 G T SNP AKT1S1 ENST00000482622 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AKT1S1 HGNC ENSG00000204673 tier1 - - 12 0 0.00 27 7 20.59 ALK 0 genome.wustl.edu 37 2 29754905 29754905 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 29754905 29754905 G A SNP ALK ENST00000389048 human ensembl 74_37 -1 known missense c.1030 p.H344Y 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 8 0 0.00 22 6 20.69 AMY2A 0 genome.wustl.edu 37 1 104163266 104163266 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 104163266 104163266 G A SNP AMY2A ENST00000414303 human ensembl 74_37 +1 known missense c.838 p.V280I 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2A HGNC ENSG00000243480 tier1 rs141685988 - 25 0 0.00 312 49 13.50 ANKFY1 0 genome.wustl.edu 37 17 4071177 4071177 + Missense_Mutation SNP T T C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 17 4071177 4071177 T C SNP ANKFY1 ENST00000570535 human ensembl 74_37 -1 known missense c.3532 p.K1178E 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 13 0 0.00 44 4 8.33 ANKRD24 0 genome.wustl.edu 37 19 4217407 4217407 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 19 4217407 4217407 C T SNP ANKRD24 ENST00000318934 human ensembl 74_37 +1 known silent c.2250 p.A750 0.087 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC ENSG00000089847 tier1 - - 8 0 0.00 19 34 64.15 ANKRD50 0 genome.wustl.edu 37 4 125591185 125591185 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 4 125591185 125591185 G A SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.3247 p.R1083C 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 14 0 0.00 33 2 5.71 AP4S1 0 genome.wustl.edu 37 14 31554030 31554030 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 14 31554030 31554030 G T SNP AP4S1 ENST00000216366 human ensembl 74_37 +1 known missense c.422 p.C141F 0.005 pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP4S1 HGNC ENSG00000100478 22 0 0.00 56 4 6.67 ARHGEF25 0 genome.wustl.edu 37 12 58009787 58009788 + Frame_Shift_Ins INS - - T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 12 58009787 58009788 - T INS ARHGEF25 ENST00000333972 human ensembl 74_37 +1 known frame_shift_ins c.1524_1525 p.D508fs 1.000:1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 tier1 10 0 0.00 12 5 29.41 ARHGEF37 0 genome.wustl.edu 37 5 148980732 148980732 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 5 148980732 148980732 G T SNP ARHGEF37 ENST00000333677 human ensembl 74_37 +1 known missense c.248 p.S83I 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF37 HGNC ENSG00000183111 10 0 0.00 36 4 10.00 ARIH2 0 genome.wustl.edu 37 3 48964987 48964987 + RNA SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 48964987 48964987 C T SNP ARIH2 ENST00000463204 human ensembl 74_37 +1 known rna NULL NULL 0.957 - - - no_errors ARIH2 HGNC ENSG00000177479 tier1 - - 20 0 0.00 28 10 26.32 ASTN2 0 genome.wustl.edu 37 9 119977005 119977005 + Missense_Mutation SNP A A G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 9 119977005 119977005 A G SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.647 p.L216P 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 8 0 0.00 10 3 23.08 ATP2B2 0 genome.wustl.edu 37 3 10370804 10370804 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 10370804 10370804 G A SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known silent c.3426 p.R1142 0.998 pfam_ATP_Ca_trans_C pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 tier1 - - 18 0 0.00 31 7 18.42 ATRNL1 0 genome.wustl.edu 37 10 117704175 117704175 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 10 117704175 117704175 C T SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known missense c.4025 p.A1342V 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 20 0 0.00 74 4 5.13 AURKA 0 genome.wustl.edu 37 20 54961428 54961428 + Missense_Mutation SNP G G C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 20 54961428 54961428 G C SNP AURKA ENST00000312783 human ensembl 74_37 -1 known missense c.204 p.H68Q 0.001 NULL 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 AURKA HGNC ENSG00000087586 tier1 - - 25 0 0.00 57 13 18.57 AUTS2 0 genome.wustl.edu 37 7 70254831 70254831 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 7 70254831 70254831 C T SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.2629 p.R877W 0.987 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 tier1 - - 16 0 0.00 56 15 20.83 BAGE2 0 genome.wustl.edu 37 21 11039406 11039406 + RNA SNP T T C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 21 11039406 11039406 T C SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 0.934 - - - no_errors BAGE2 HGNC ENSG00000187172 tier1 rs8134740 - 42 0 0.00 164 9 5.20 BAP1 0 genome.wustl.edu 37 3 52439267 52439267 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 52439267 52439267 G A SNP BAP1 ENST00000460680 human ensembl 74_37 -1 known silent c.975 p.S325 0.839 NULL pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors BAP1 HGNC ENSG00000163930 tier1 - - 13 0 0.00 35 8 18.60 BMS1P8 0 genome.wustl.edu 37 16 33497230 33497230 + RNA SNP A A C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 16 33497230 33497230 A C SNP BMS1P8 ENST00000565156 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors BMS1P8 HGNC ENSG00000260518 tier1 rs28409390 - 12 0 0.00 39 14 26.42 BMS1P8 0 genome.wustl.edu 37 16 33497373 33497373 + RNA SNP G G C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 16 33497373 33497373 G C SNP BMS1P8 ENST00000565156 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors BMS1P8 HGNC ENSG00000260518 tier1 rs62029824 - 22 0 0.00 71 22 23.66 BOLA3 0 genome.wustl.edu 37 2 74362706 74362706 + Silent SNP C C A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 74362706 74362706 C A SNP BOLA3 ENST00000295326 human ensembl 74_37 -1 known silent c.249 p.L83 0.005 NULL NULL - no_errors BOLA3 HGNC ENSG00000163170 12 0 0.00 53 6 10.17 C10orf112 0 genome.wustl.edu 37 10 19777950 19777950 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 10 19777950 19777950 G A SNP C10orf112 ENST00000454679 human ensembl 74_37 +1 known missense c.2975 p.R992H 0.297 NULL pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 18 0 0.00 95 10 9.52 C10orf90 0 genome.wustl.edu 37 10 128193341 128193341 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 10 128193341 128193341 G A SNP C10orf90 ENST00000544758 human ensembl 74_37 -1 known missense c.719 p.T240M 0.994 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 13 0 0.00 48 8 14.29 C16orf70 0 genome.wustl.edu 37 16 67166782 67166782 + Silent SNP T T C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 16 67166782 67166782 T C SNP C16orf70 ENST00000219139 human ensembl 74_37 +1 known silent c.418 p.L140 1.000 pfam_UPF0183 pfam_UPF0183 - no_errors C16orf70 HGNC ENSG00000125149 tier1 - - 28 0 0.00 61 12 16.44 C20orf26 0 genome.wustl.edu 37 20 20180466 20180466 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 20 20180466 20180466 G A SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known missense c.1852 p.V618M 1.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 13 0 0.00 50 7 12.28 C9orf131 0 genome.wustl.edu 37 9 35045009 35045009 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 9 35045009 35045009 C T SNP C9orf131 ENST00000312292 human ensembl 74_37 +1 known missense c.2383 p.R795W 0.382 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 14 0 0.00 31 3 8.82 CACNA2D3-AS1 0 genome.wustl.edu 37 3 54912965 54912965 + RNA SNP C C A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 54912965 54912965 C A SNP CACNA2D3-AS1 ENST00000471265 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CACNA2D3-AS1 HGNC ENSG00000243715 tier1 - - 10 0 0.00 32 10 23.81 CACNA2D3-AS1 0 genome.wustl.edu 37 3 54912966 54912966 + RNA SNP T T A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 54912966 54912966 T A SNP CACNA2D3-AS1 ENST00000471265 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CACNA2D3-AS1 HGNC ENSG00000243715 tier1 - - 10 0 0.00 33 11 25.00 CASP12 0 genome.wustl.edu 37 11 104762130 104762130 + Missense_Mutation SNP T T A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 11 104762130 104762130 T A SNP CASP12 ENST00000375726 human ensembl 74_37 -1 known missense c.434 p.E145V 1.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,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 CASP12 HGNC ENSG00000204403 tier1 - - 11 0 0.00 64 16 20.00 CASP12 0 genome.wustl.edu 37 11 104762131 104762131 + Nonsense_Mutation SNP C C A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 11 104762131 104762131 C A SNP CASP12 ENST00000375726 human ensembl 74_37 -1 known nonsense c.433 p.E145* 1.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,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 CASP12 HGNC ENSG00000204403 tier1 - - 11 0 0.00 65 16 19.75 CASZ1 0 genome.wustl.edu 37 1 10725216 10725216 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 10725216 10725216 G A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.429 p.G143 0.835 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 tier1 - - 19 0 0.00 55 13 19.12 CCDC12 0 genome.wustl.edu 37 3 46965112 46965112 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 46965112 46965112 G A SNP CCDC12 ENST00000292314 human ensembl 74_37 -1 known silent c.330 p.P110 0.006 pfam_mRNA_splic_Cwf18 pfam_mRNA_splic_Cwf18 - no_errors CCDC12 HGNC ENSG00000160799 tier1 - - 21 0 0.00 18 11 37.93 CCDC88C 0 genome.wustl.edu 37 14 91773422 91773422 + Missense_Mutation SNP A A T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 14 91773422 91773422 A T SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known missense c.3155 p.L1052H 1.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 11 0 0.00 19 3 13.64 CCNJL 0 genome.wustl.edu 37 5 159696549 159696549 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 5 159696549 159696549 G A SNP CCNJL ENST00000505287 human ensembl 74_37 -1 known missense c.418 p.R140W 0.000 pfam_Cyclin_N,superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like - no_errors CCNJL HGNC ENSG00000135083 tier1 - - 15 0 0.00 34 10 22.73 CDC42 0 genome.wustl.edu 37 1 22416504 22416504 + Missense_Mutation SNP A A T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 22416504 22416504 A T SNP CDC42 ENST00000315554 human ensembl 74_37 +1 known missense c.555 p.K185N 1.000 superfamily_P-loop_NTPase 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 - no_errors CDC42 HGNC ENSG00000070831 15 0 0.00 75 4 5.06 CDC42BPB 0 genome.wustl.edu 37 14 103433470 103433470 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 14 103433470 103433470 C T SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known missense c.2384 p.R795K 1.000 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 8 0 0.00 42 4 8.70 CENPL 0 genome.wustl.edu 37 1 173776428 173776428 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 173776428 173776428 C T SNP CENPL ENST00000356198 human ensembl 74_37 -1 known missense c.397 p.D133N 0.997 NULL NULL - no_errors CENPL HGNC ENSG00000120334 tier1 rs144722707 - 17 0 0.00 82 37 31.09 CENPQ 0 genome.wustl.edu 37 6 49439801 49439801 + Missense_Mutation SNP A A T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 6 49439801 49439801 A T SNP CENPQ ENST00000335783 human ensembl 74_37 +1 known missense c.183 p.K61N 0.958 NULL NULL - no_errors CENPQ HGNC ENSG00000031691 tier1 - - 8 0 0.00 42 13 23.64 CEP41 0 genome.wustl.edu 37 7 130039882 130039882 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 7 130039882 130039882 G T SNP CEP41 ENST00000223208 human ensembl 74_37 -1 known missense c.971 p.P324H 0.905 NULL pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors CEP41 HGNC ENSG00000106477 9 0 0.00 56 3 5.08 CHD5 0 genome.wustl.edu 37 1 6191703 6191703 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 6191703 6191703 C T SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.3250 p.D1084N 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,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 CHD5 HGNC ENSG00000116254 15 0 0.00 48 3 5.88 CHD9 0 genome.wustl.edu 37 16 53358004 53358004 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 16 53358004 53358004 G A SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.7891 p.G2631R 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 tier1 - - 19 0 0.00 44 20 31.25 CHRNA4 0 genome.wustl.edu 37 20 61981753 61981753 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 20 61981753 61981753 G A SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known missense c.1010 p.T337M 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 tier1 rs201673381 - 18 0 0.00 40 9 18.00 CIC 0 genome.wustl.edu 37 19 42792111 42792112 + Frame_Shift_Ins INS - - GCTG TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 19 42792111 42792112 - GCTG INS CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_ins c.915_916 p.A306fs 0.993:0.993 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 tier1 10 0 0.00 27 9 25.00 CKAP5 0 genome.wustl.edu 37 11 46829606 46829606 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 11 46829606 46829606 G T SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known missense c.953 p.A318E 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 21 0 0.00 77 5 6.10 CLEC9A 0 genome.wustl.edu 37 12 10205420 10205421 + RNA INS - - T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 12 10205420 10205421 - T INS CLEC9A ENST00000544751 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CLEC9A HGNC ENSG00000197992 tier1 11 0 0.00 29 4 12.12 CLEC9A 0 genome.wustl.edu 37 12 10205420 10205421 + RNA INS - - TT TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 12 10205420 10205421 - TT INS CLEC9A ENST00000544751 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CLEC9A HGNC ENSG00000197992 tier1 11 0 0.00 31 2 6.06 CLIP4 0 genome.wustl.edu 37 2 29386778 29386778 + Missense_Mutation SNP C C A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 29386778 29386778 C A SNP CLIP4 ENST00000320081 human ensembl 74_37 +1 known missense c.1616 p.S539Y 0.998 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 14 0 0.00 45 6 11.76 CMYA5 0 genome.wustl.edu 37 5 79027241 79027241 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 5 79027241 79027241 G A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.2653 p.E885K 0.055 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 9 0 0.00 33 12 26.67 CNGB1 0 genome.wustl.edu 37 16 57996893 57996893 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 16 57996893 57996893 C T SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known silent c.366 p.T122 0.001 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 tier1 - - 37 0 0.00 90 23 20.35 CNGB3 0 genome.wustl.edu 37 8 87751944 87751944 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 8 87751944 87751944 C T SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known silent c.150 p.E50 0.087 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 14 0 0.00 33 4 10.81 CNTN4 0 genome.wustl.edu 37 3 3095632 3095632 + Missense_Mutation SNP G G C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 3095632 3095632 G C SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.2953 p.E985Q 0.998 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 10 0 0.00 68 4 5.56 COL11A1 0 genome.wustl.edu 37 1 103364237 103364237 + Silent SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 103364237 103364237 G T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.4269 p.G1423 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 - - 25 0 0.00 110 21 16.03 COL16A1 0 genome.wustl.edu 37 1 32164106 32164106 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 32164106 32164106 G T SNP COL16A1 ENST00000271069 human ensembl 74_37 -1 known missense c.368 p.T123N 0.826 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 25 0 0.00 55 4 6.78 COL21A1 0 genome.wustl.edu 37 6 56035613 56035613 + Missense_Mutation SNP T T C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 6 56035613 56035613 T C SNP COL21A1 ENST00000244728 human ensembl 74_37 -1 known missense c.860 p.Q287R 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 9 0 0.00 59 4 6.35 COL4A6 0 genome.wustl.edu 37 X 107464499 107464499 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 X 107464499 107464499 G A SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known silent c.253 p.L85 0.266 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 tier1 - - 10 0 0.00 20 24 54.55 COL6A3 0 genome.wustl.edu 37 2 238263551 238263551 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 238263551 238263551 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.6618 p.P2206 0.001 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 28 0 0.00 72 4 5.26 COMMD6 0 genome.wustl.edu 37 13 76104340 76104340 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 13 76104340 76104340 C T SNP COMMD6 ENST00000355801 human ensembl 74_37 -1 known silent c.117 p.K39 0.992 pfam_HCaRG pfam_HCaRG - no_errors COMMD6 HGNC ENSG00000188243 13 0 0.00 37 4 9.76 CORO1B 0 genome.wustl.edu 37 11 67210002 67210002 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 11 67210002 67210002 C T SNP CORO1B ENST00000341356 human ensembl 74_37 -1 known missense c.98 p.R33H 1.000 pfam_DUF1899,superfamily_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 12 0 0.00 33 4 10.81 CSF2RB 0 genome.wustl.edu 37 22 37333909 37333909 + Missense_Mutation SNP G G C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 22 37333909 37333909 G C SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known missense c.2077 p.D693H 0.011 pirsf_IL3_rcpt_beta pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 18 0 0.00 54 3 5.26 CTSF 0 genome.wustl.edu 37 11 66333156 66333156 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 11 66333156 66333156 G T SNP CTSF ENST00000310325 human ensembl 74_37 -1 known missense c.1031 p.A344D 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSF HGNC ENSG00000174080 17 0 0.00 62 4 6.06 CUBN 0 genome.wustl.edu 37 10 16962050 16962050 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 10 16962050 16962050 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.6733 p.A2245T 0.085 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 14 0 0.00 69 8 10.39 CUX2 0 genome.wustl.edu 37 12 111747999 111747999 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 12 111747999 111747999 C T SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known silent c.1413 p.D471 0.002 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 tier1 - - 30 0 0.00 64 21 24.71 CWF19L2 0 genome.wustl.edu 37 11 107299551 107299551 + Silent SNP T T C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 11 107299551 107299551 T C SNP CWF19L2 ENST00000282251 human ensembl 74_37 -1 known silent c.1407 p.L469 0.000 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 tier1 - - 14 0 0.00 97 22 18.49 DCAF4 0 genome.wustl.edu 37 14 73406569 73406569 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 14 73406569 73406569 C T SNP DCAF4 ENST00000358377 human ensembl 74_37 +1 known missense c.152 p.P51L 0.037 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4 HGNC ENSG00000119599 13 0 0.00 17 4 19.05 DCC 0 genome.wustl.edu 37 18 51025797 51025797 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 18 51025797 51025797 G A SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.4028 p.R1343H 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 21 0 0.00 50 5 9.09 DENND2C 0 genome.wustl.edu 37 1 115167965 115167965 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 115167965 115167965 C T SNP DENND2C ENST00000393274 human ensembl 74_37 -1 known missense c.641 p.R214H 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 tier1 - - 10 0 0.00 74 13 14.94 DFFB 0 genome.wustl.edu 37 1 3775330 3775330 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 3775330 3775330 C T SNP DFFB ENST00000378209 human ensembl 74_37 +1 known silent c.163 p.L55 0.473 pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom pfam_Apoptosis_DFF40,pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors DFFB HGNC ENSG00000169598 tier1 - - 20 0 0.00 41 16 28.07 DIS3 0 genome.wustl.edu 37 13 73336070 73336070 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 13 73336070 73336070 G T SNP DIS3 ENST00000377767 human ensembl 74_37 -1 known missense c.2333 p.P778H 1.000 NULL smart_PIN_dom - no_errors DIS3 HGNC ENSG00000083520 15 0 0.00 37 2 5.13 DLGAP2 0 genome.wustl.edu 37 8 1616580 1616580 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 8 1616580 1616580 G T SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.1656 p.Q552H 1.000 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 tier1 - - 20 0 0.00 72 26 26.53 DMD 0 genome.wustl.edu 37 X 32328389 32328389 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 X 32328389 32328389 G T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.5927 p.T1976N 1.000 pfam_Spectrin_repeat,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 9 0 0.00 32 3 8.57 DMRTC2 0 genome.wustl.edu 37 19 42353321 42353321 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 19 42353321 42353321 G A SNP DMRTC2 ENST00000269945 human ensembl 74_37 +1 known missense c.752 p.R251H 0.627 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTC2 HGNC ENSG00000142025 tier1 - - 24 0 0.00 14 21 60.00 DMXL2 0 genome.wustl.edu 37 15 51742484 51742484 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 15 51742484 51742484 G T SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.8746 p.L2916I 0.996 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 11 0 0.00 46 4 8.00 DNAH5 0 genome.wustl.edu 37 5 13752328 13752328 + Missense_Mutation SNP A A G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 5 13752328 13752328 A G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.10943 p.L3648P 1.000 NULL 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 - - 17 0 0.00 29 67 69.79 DNASE1L3 0 genome.wustl.edu 37 3 58194005 58194005 + Missense_Mutation SNP A A G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 58194005 58194005 A G SNP DNASE1L3 ENST00000318316 human ensembl 74_37 -1 known missense c.170 p.V57A 0.997 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I - no_errors DNASE1L3 HGNC ENSG00000163687 16 0 0.00 51 3 5.56 DNTTIP1 0 genome.wustl.edu 37 20 44424030 44424030 + Missense_Mutation SNP A A G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 20 44424030 44424030 A G SNP DNTTIP1 ENST00000372622 human ensembl 74_37 +1 known missense c.320 p.E107G 1.000 NULL NULL - no_errors DNTTIP1 HGNC ENSG00000101457 10 0 0.00 46 3 6.12 DPPA2 0 genome.wustl.edu 37 3 109028057 109028057 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 109028057 109028057 C T SNP DPPA2 ENST00000478945 human ensembl 74_37 -1 known missense c.302 p.R101Q 0.818 pfscan_SAP_dom pfscan_SAP_dom - no_errors DPPA2 HGNC ENSG00000163530 18 0 0.00 74 4 5.13 DTX2 0 genome.wustl.edu 37 7 76111982 76111982 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 7 76111982 76111982 C T SNP DTX2 ENST00000324432 human ensembl 74_37 +1 known silent c.426 p.L142 0.027 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC ENSG00000091073 25 0 0.00 85 7 7.61 DUSP10 0 genome.wustl.edu 37 1 221875950 221875950 + Missense_Mutation SNP A A G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 221875950 221875950 A G SNP DUSP10 ENST00000366899 human ensembl 74_37 -1 known missense c.1253 p.I418T 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP10 HGNC ENSG00000143507 tier1 - - 14 0 0.00 52 10 16.13 EDC4 0 genome.wustl.edu 37 16 67913139 67913139 + Splice_Site SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 16 67913139 67913139 G T SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known splice_site c.1469-1 e13-1 1.000 - - - no_errors EDC4 HGNC ENSG00000038358 39 0 0.00 63 4 5.97 EFCAB12 0 genome.wustl.edu 37 3 129120636 129120636 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 129120636 129120636 G A SNP EFCAB12 ENST00000326085 human ensembl 74_37 -1 known missense c.1519 p.P507S 1.000 NULL pfscan_EF_hand_dom - no_errors EFCAB12 HGNC ENSG00000172771 17 0 0.00 56 4 6.67 ENAH 0 genome.wustl.edu 37 1 225707040 225707040 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 225707040 225707040 C T SNP ENAH ENST00000366844 human ensembl 74_37 -1 known missense c.662 p.R221H 0.897 NULL pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors ENAH HGNC ENSG00000154380 tier1 - - 25 0 0.00 57 11 15.94 ENSG00000176593 0 genome.wustl.edu 37 19 58513732 58513732 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 19 58513732 58513732 C T SNP ENSG00000176593 ENST00000550135 human ensembl 74_37 +1 putative missense c.254 p.P85L 0.000 NULL NULL - no_errors CTD-2368P22.1 Clone_based_vega_gene ENSG00000176593 tier1 - - 8 0 0.00 14 14 50.00 ENSG00000206195 0 genome.wustl.edu 37 22 16159158 16159158 + RNA SNP A A G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 22 16159158 16159158 A G SNP ENSG00000206195 ENST00000383038 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors AP000525.9 Clone_based_vega_gene ENSG00000206195 tier1 - - 8 0 0.00 4 8 66.67 ENSG00000256341 0 genome.wustl.edu 37 11 63886079 63886079 + RNA SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 11 63886079 63886079 C T SNP ENSG00000256341 ENST00000543817 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors RP11-21A7A.3 Clone_based_vega_gene ENSG00000256341 tier1 - - 60 0 0.00 201 13 5.88 ENSG00000270433 0 genome.wustl.edu 37 14 23764732 23764733 + RNA INS - - A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 14 23764732 23764733 - A INS ENSG00000270433 ENST00000604456 human ensembl 74_37 +1 known rna NULL NULL 0.820:0.835 - - - no_errors RP11-124D2.7 Clone_based_vega_gene ENSG00000270433 tier1 10 0 0.00 25 5 16.67 ENSG00000271894 0 genome.wustl.edu 37 2 56612188 56612188 + RNA DEL T T - TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 56612188 56612188 T - DEL ENSG00000271894 ENST00000607540 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-482H16.1 Clone_based_vega_gene ENSG00000271894 tier1 14 0 0.00 35 8 18.60 EPB41L4A 0 genome.wustl.edu 37 5 111595633 111595633 + Missense_Mutation SNP C C A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 5 111595633 111595633 C A SNP EPB41L4A ENST00000261486 human ensembl 74_37 -1 known missense c.686 p.G229V 1.000 pfam_FERM_PH-like_C,pfscan_FERM_domain,prints_Ez/rad/moesin_like pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4A HGNC ENSG00000129595 14 0 0.00 28 2 6.67 EPHA4 0 genome.wustl.edu 37 2 222290754 222290754 + Silent SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 222290754 222290754 G T SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known silent c.2955 p.P985 0.889 NULL pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 tier1 - - 8 0 0.00 28 6 17.65 EPHB2 0 genome.wustl.edu 37 1 23236980 23236980 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 23236980 23236980 C T SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known missense c.2608 p.R870W 0.997 pirsf_Tyr_kinase_ephrin_rcpt,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,prints_Ser-Thr/Tyr_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 20 0 0.00 40 6 13.04 ESRRB 0 genome.wustl.edu 37 14 76965244 76965244 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 14 76965244 76965244 C T SNP ESRRB ENST00000261532 human ensembl 74_37 +1 known missense c.1472 p.P491L 0.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESRRB HGNC ENSG00000119715 10 0 0.00 32 4 11.11 ETFA 0 genome.wustl.edu 37 15 76588003 76588003 + Missense_Mutation SNP T T G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 15 76588003 76588003 T G SNP ETFA ENST00000557943 human ensembl 74_37 -1 known missense c.115 p.N39H 1.000 pfam_ETF_a/b_N,smart_ETF_a/b_N,pirsf_ETF_a pfam_ETF_asu_C,pfam_ETF_a/b_N,smart_ETF_a/b_N,pirsf_ETF_a - no_errors ETFA HGNC ENSG00000140374 tier1 - - 17 0 0.00 42 15 26.32 EXOC3L1 0 genome.wustl.edu 37 16 67219282 67219282 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 16 67219282 67219282 C T SNP EXOC3L1 ENST00000314586 human ensembl 74_37 -1 known silent c.1608 p.A536 0.414 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L1 HGNC ENSG00000179044 8 0 0.00 54 4 6.90 FAM118B 0 genome.wustl.edu 37 11 126110726 126110726 + Missense_Mutation SNP A A C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 11 126110726 126110726 A C SNP FAM118B ENST00000533050 human ensembl 74_37 +1 known missense c.126 p.E42D 0.989 NULL NULL - no_errors FAM118B HGNC ENSG00000197798 tier1 - - 21 0 0.00 55 15 21.43 FAM90A26 0 genome.wustl.edu 37 4 9174993 9174994 + Frame_Shift_Ins INS - - T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 4 9174993 9174994 - T INS FAM90A26 ENST00000432515 human ensembl 74_37 +1 known frame_shift_ins c.95_96 p.P33fs 0.004:0.013 NULL superfamily_Znf_CCHC - no_errors FAM90A26 HGNC ENSG00000229924 tier1 48 0 0.00 81 22 21.36 FAM98C 0 genome.wustl.edu 37 19 38895990 38895990 + Nonsense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 19 38895990 38895990 G T SNP FAM98C ENST00000252530 human ensembl 74_37 +1 known nonsense c.562 p.E188* 0.962 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98C HGNC ENSG00000130244 13 0 0.00 33 2 5.71 FANCM 0 genome.wustl.edu 37 14 45668128 45668128 + Missense_Mutation SNP A A T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 14 45668128 45668128 A T SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.5998 p.M2000L 1.000 superfamily_RuvA_2-like pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 tier1 - - 9 0 0.00 19 34 64.15 FASN 0 genome.wustl.edu 37 17 80042404 80042404 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 17 80042404 80042404 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.4753 p.P1585S 1.000 superfamily_GroES-like,smart_PKS_ER pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 tier1 - - 12 0 0.00 57 11 16.18 FASN 0 genome.wustl.edu 37 17 80041136 80041136 + Missense_Mutation SNP A A T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 17 80041136 80041136 A T SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.5507 p.V1836E 1.000 smart_PKS_ER pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 20 0 0.00 42 6 12.50 FBN2 0 genome.wustl.edu 37 5 127681105 127681105 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 5 127681105 127681105 C T SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.3161 p.R1054H 1.000 pirsf_FBN,superfamily_TB_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 tier1 - - 9 0 0.00 47 14 22.95 FCGBP 0 genome.wustl.edu 37 19 40433435 40433435 + Nonsense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 19 40433435 40433435 G T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known nonsense c.834 p.Y278* 0.010 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 12 0 0.00 33 2 5.71 FCRL3 0 genome.wustl.edu 37 1 157667559 157667559 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 157667559 157667559 G A SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.449 p.T150I 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 tier1 - - 12 0 0.00 53 23 30.26 FGFR2 0 genome.wustl.edu 37 10 123245031 123245031 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 10 123245031 123245031 C T SNP FGFR2 ENST00000457416 human ensembl 74_37 -1 known silent c.2076 p.V692 1.000 pirsf_FGF_rcpt_fam,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR2 HGNC ENSG00000066468 tier1 - - 12 0 0.00 33 9 21.43 FKBP15 0 genome.wustl.edu 37 9 115940968 115940968 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 9 115940968 115940968 G A SNP FKBP15 ENST00000238256 human ensembl 74_37 -1 known silent c.2028 p.S676 0.023 superfamily_Regulat_G_prot_signal_superfam pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 23 0 0.00 65 4 5.80 FLG 0 genome.wustl.edu 37 1 152281390 152281390 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 152281390 152281390 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.5972 p.A1991V 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 105 0 0.00 242 89 26.89 FLNB 0 genome.wustl.edu 37 3 58109286 58109286 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 58109286 58109286 C T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.3593 p.T1198M 0.047 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 tier1 - - 17 0 0.00 43 11 20.37 FOLH1B 0 genome.wustl.edu 37 11 89395322 89395322 + RNA SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 11 89395322 89395322 C T SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors FOLH1B HGNC ENSG00000134612 15 0 0.00 47 4 7.84 FOLH1B 0 genome.wustl.edu 37 11 89395333 89395333 + RNA SNP A A G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 11 89395333 89395333 A G SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 0.044 - - - no_errors FOLH1B HGNC ENSG00000134612 17 0 0.00 58 4 6.45 FOXA2 0 genome.wustl.edu 37 20 22563118 22563118 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 20 22563118 22563118 G A SNP FOXA2 ENST00000419308 human ensembl 74_37 -1 known silent c.762 p.Y254 1.000 pfam_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA2 HGNC ENSG00000125798 11 0 0.00 56 7 11.11 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74954920 74954920 + Silent SNP C C A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 74954920 74954920 C A SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known silent c.2511 p.L837 0.993 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 tier1 - - 13 0 0.00 54 22 28.95 FUBP1 0 genome.wustl.edu 37 1 78414982 78414982 + Missense_Mutation SNP T T C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 78414982 78414982 T C SNP FUBP1 ENST00000436586 human ensembl 74_37 -1 known missense c.1847 p.Q616R 1.000 pfam_DUF1897 pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP1 HGNC ENSG00000162613 14 0 0.00 23 3 11.54 GAA 0 genome.wustl.edu 37 17 78086727 78086727 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 17 78086727 78086727 C T SNP GAA ENST00000302262 human ensembl 74_37 +1 known silent c.1941 p.C647 0.969 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 tier1 - - 30 0 0.00 104 28 21.21 GABRG1 0 genome.wustl.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 4 46060358 46060358 A 0 DEL GABRG1 ENST00000295452 human ensembl 74_37 -1 known frame_shift_del c.792 p.F264fs 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 10 0 0.00 34 7 17.07 GALNT8 0 genome.wustl.edu 37 12 4835983 4835983 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 12 4835983 4835983 C T SNP GALNT8 ENST00000252318 human ensembl 74_37 +1 known missense c.497 p.T166M 0.860 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 tier1 rs201255097 - 18 0 0.00 37 12 24.49 GFRA2 0 genome.wustl.edu 37 8 21552006 21552006 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 8 21552006 21552006 G A SNP GFRA2 ENST00000517328 human ensembl 74_37 -1 known silent c.1242 p.N414 1.000 pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt_a2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2 - no_errors GFRA2 HGNC ENSG00000168546 tier1 - - 12 0 0.00 33 11 24.44 GK5 0 genome.wustl.edu 37 3 141944229 141944229 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 141944229 141944229 C T SNP GK5 ENST00000392993 human ensembl 74_37 -1 known silent c.69 p.G23 1.000 pfam_Carb_kinase_FGGY_N pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C - no_errors GK5 HGNC ENSG00000175066 8 0 0.00 33 4 10.81 GOLGA6L3 0 genome.wustl.edu 37 15 83013419 83013419 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 15 83013419 83013419 G A SNP GOLGA6L3 ENST00000557886 human ensembl 74_37 -1 putative silent c.1164 p.D388 0.000 NULL NULL - no_errors RP13-996F3.4 Clone_based_vega_gene ENSG00000259243 tier1 - - 8 0 0.00 19 10 34.48 GOLGA6L4 0 genome.wustl.edu 37 15 84909376 84909376 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 15 84909376 84909376 C T SNP GOLGA6L4 ENST00000422563 human ensembl 74_37 +1 known missense c.298 p.R100W 0.001 NULL NULL - no_errors GOLGA6L4 HGNC ENSG00000184206 tier1 - - 41 0 0.00 82 17 17.17 GPR85 0 genome.wustl.edu 37 7 112724407 112724407 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 7 112724407 112724407 C T SNP GPR85 ENST00000297146 human ensembl 74_37 -1 known missense c.370 p.A124T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR85 HGNC ENSG00000164604 tier1 - - 10 0 0.00 18 45 71.43 GRIA2 0 genome.wustl.edu 37 4 158255208 158255208 + Missense_Mutation SNP A A T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 4 158255208 158255208 A T SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.1202 p.E401V 0.999 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 tier1 - - 13 0 0.00 58 11 15.94 GRK7 0 genome.wustl.edu 37 3 141499486 141499486 + Missense_Mutation SNP T T C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 141499486 141499486 T C SNP GRK7 ENST00000264952 human ensembl 74_37 +1 known missense c.883 p.F295L 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_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK7 HGNC ENSG00000114124 13 0 0.00 31 2 6.06 GRM3 0 genome.wustl.edu 37 7 86468292 86468292 + Nonsense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 7 86468292 86468292 G T SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known nonsense c.1462 p.E488* 1.000 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 20 0 0.00 60 4 6.25 GSN-AS1 0 genome.wustl.edu 37 9 124045974 124045974 + RNA SNP T T C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 9 124045974 124045974 T C SNP GSN-AS1 ENST00000414544 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GSN-AS1 HGNC ENSG00000235865 tier1 rs78220606 - 9 0 0.00 10 4 28.57 GUSBP1 0 genome.wustl.edu 37 5 21459818 21459818 + RNA SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 5 21459818 21459818 G A SNP GUSBP1 ENST00000508260 human ensembl 74_37 +1 known rna NULL NULL 0.649 - - - no_errors GUSBP1 HGNC ENSG00000183666 tier1 - - 93 0 0.00 255 84 24.63 HAND2-AS1 0 genome.wustl.edu 37 4 174458050 174458050 + RNA SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 4 174458050 174458050 G A SNP HAND2-AS1 ENST00000502334 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HAND2-AS1 HGNC ENSG00000237125 18 0 0.00 44 7 13.73 HBS1L 0 genome.wustl.edu 37 6 135303637 135303637 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 6 135303637 135303637 C T SNP HBS1L ENST00000367837 human ensembl 74_37 -1 known missense c.1556 p.R519Q 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_HBS1-like_N,pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors HBS1L HGNC ENSG00000112339 tier1 - - 15 0 0.00 33 10 23.26 HLA-DQA2 0 genome.wustl.edu 37 6 32713598 32713598 + Missense_Mutation SNP T T C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 6 32713598 32713598 T C SNP HLA-DQA2 ENST00000374940 human ensembl 74_37 +1 known missense c.362 p.F121S 0.252 pfscan_Ig-like_dom pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DQA2 HGNC ENSG00000237541 tier1 rs138296677 - 36 0 0.00 82 13 13.68 HTR1D 0 genome.wustl.edu 37 1 23519770 23519770 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 23519770 23519770 G T SNP HTR1D ENST00000314113 human ensembl 74_37 -1 known missense c.943 p.L315M 1.000 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_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt - no_errors HTR1D HGNC ENSG00000179546 tier1 - - 19 0 0.00 32 16 33.33 HTRA2 0 genome.wustl.edu 37 2 74759031 74759031 + Missense_Mutation SNP T T A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 74759031 74759031 T A SNP HTRA2 ENST00000258080 human ensembl 74_37 +1 known missense c.1094 p.M365K 1.000 superfamily_PDZ,smart_PDZ pfam_Peptidase_S1,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA2 HGNC ENSG00000115317 13 0 0.00 23 4 14.81 IL2RA 0 genome.wustl.edu 37 10 6063544 6063544 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 10 6063544 6063544 G A SNP IL2RA ENST00000379959 human ensembl 74_37 -1 known silent c.480 p.H160 0.000 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 IL2RA HGNC ENSG00000134460 tier1 - - 33 0 0.00 39 13 25.00 IL2RA 0 genome.wustl.edu 37 10 6066312 6066312 + Missense_Mutation SNP G G C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 10 6066312 6066312 G C SNP IL2RA ENST00000379959 human ensembl 74_37 -1 known missense c.262 p.R88G 0.000 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors IL2RA HGNC ENSG00000134460 tier1 - - 12 0 0.00 82 17 17.17 IL3 0 genome.wustl.edu 37 5 131396415 131396415 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 5 131396415 131396415 G A SNP IL3 ENST00000296870 human ensembl 74_37 +1 known missense c.16 p.V6I 0.000 pirsf_IL-3 pfam_IL-3,superfamily_4_helix_cytokine-like_core,pirsf_IL-3,prints_IL-3 - no_errors IL3 HGNC ENSG00000164399 tier1 - - 13 0 0.00 17 12 41.38 IL3 0 genome.wustl.edu 37 5 131398459 131398459 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 5 131398459 131398459 C T SNP IL3 ENST00000296870 human ensembl 74_37 +1 known missense c.434 p.T145M 0.000 pirsf_IL-3 pfam_IL-3,superfamily_4_helix_cytokine-like_core,pirsf_IL-3,prints_IL-3 - no_errors IL3 HGNC ENSG00000164399 tier1 - - 13 0 0.00 23 7 23.33 IMPDH1 0 genome.wustl.edu 37 7 128034542 128034542 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 7 128034542 128034542 C T SNP IMPDH1 ENST00000338791 human ensembl 74_37 -1 known silent c.1662 p.Q554 1.000 pfam_IMP_DH_GMPRt,tigrfam_IMP_DH pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_CBS_dom,tigrfam_IMP_DH - no_errors IMPDH1 HGNC ENSG00000106348 tier1 rs139785999 - 41 0 0.00 57 17 22.97 IMPDH1 0 genome.wustl.edu 37 7 128036730 128036730 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 7 128036730 128036730 G A SNP IMPDH1 ENST00000338791 human ensembl 74_37 -1 known silent c.1185 p.A395 1.000 pfam_IMP_DH_GMPRt,pfam_2Npropane_dOase,pfam_FMN-dep_DH,tigrfam_IMP_DH pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_CBS_dom,tigrfam_IMP_DH - no_errors IMPDH1 HGNC ENSG00000106348 tier1 - - 22 0 0.00 51 8 13.33 IMPG2 0 genome.wustl.edu 37 3 100949844 100949844 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 100949844 100949844 G T SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.3379 p.L1127I 0.457 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 14 0 0.00 73 4 5.19 INADL 0 genome.wustl.edu 37 1 62240965 62240965 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 62240965 62240965 G A SNP INADL ENST00000371158 human ensembl 74_37 +1 known missense c.808 p.V270M 0.999 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 tier1 - - 27 0 0.00 55 45 45.00 INPP5E 0 genome.wustl.edu 37 9 139324152 139324152 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 9 139324152 139324152 G A SNP INPP5E ENST00000371712 human ensembl 74_37 -1 known missense c.1910 p.S637F 0.971 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5E HGNC ENSG00000148384 15 0 0.00 43 4 8.51 INPP5E 0 genome.wustl.edu 37 9 139324165 139324165 + Nonsense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 9 139324165 139324165 G A SNP INPP5E ENST00000371712 human ensembl 74_37 -1 known nonsense c.1897 p.Q633* 0.041 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5E HGNC ENSG00000148384 13 0 0.00 38 4 9.52 IPO13 0 genome.wustl.edu 37 1 44422098 44422098 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 44422098 44422098 C T SNP IPO13 ENST00000372343 human ensembl 74_37 +1 known missense c.928 p.R310C 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC ENSG00000117408 tier1 - - 10 0 0.00 30 7 18.92 IPO9 0 genome.wustl.edu 37 1 201837855 201837855 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 201837855 201837855 G T SNP IPO9 ENST00000361565 human ensembl 74_37 +1 known missense c.1935 p.M645I 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC ENSG00000198700 12 0 0.00 31 2 6.06 IQUB 0 genome.wustl.edu 37 7 123097500 123097500 + Missense_Mutation SNP A A T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 7 123097500 123097500 A T SNP IQUB ENST00000324698 human ensembl 74_37 -1 known missense c.2128 p.W710R 1.000 NULL pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors IQUB HGNC ENSG00000164675 11 0 0.00 45 4 8.16 ISM1 0 genome.wustl.edu 37 20 13279982 13279982 + Missense_Mutation SNP T T C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 20 13279982 13279982 T C SNP ISM1 ENST00000262487 human ensembl 74_37 +1 known missense c.1271 p.I424T 1.000 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM1 HGNC ENSG00000101230 tier1 - - 8 0 0.00 29 13 30.95 ITGAV 0 genome.wustl.edu 37 2 187532501 187532501 + Nonsense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 187532501 187532501 G T SNP ITGAV ENST00000261023 human ensembl 74_37 +1 known nonsense c.2431 p.E811* 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 23 0 0.00 72 4 5.26 ITGAX 0 genome.wustl.edu 37 16 31392248 31392248 + Missense_Mutation SNP C C G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 16 31392248 31392248 C G SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known missense c.3307 p.H1103D 0.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 tier1 - - 34 0 0.00 54 9 14.29 JARID2 0 genome.wustl.edu 37 6 15520334 15520334 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 6 15520334 15520334 G A SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.3593 p.G1198D 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 26 0 0.00 68 4 5.56 KCNF1 0 genome.wustl.edu 37 2 11052955 11052955 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 11052955 11052955 C T SNP KCNF1 ENST00000295082 human ensembl 74_37 +1 known missense c.403 p.R135C 1.000 superfamily_BTB/POZ_fold pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 tier1 - - 9 0 0.00 17 8 32.00 KDM2A 0 genome.wustl.edu 37 11 67024302 67024303 + RNA INS - - T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 11 67024302 67024303 - T INS KDM2A ENST00000524657 human ensembl 74_37 +1 known rna NULL NULL 0.011:0.012 - - - no_errors KDM2A HGNC ENSG00000173120 tier1 12 0 0.00 38 33 46.48 KDM4A 0 genome.wustl.edu 37 1 44132178 44132178 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 44132178 44132178 C T SNP KDM4A ENST00000372396 human ensembl 74_37 +1 known silent c.729 p.T243 0.986 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4A HGNC ENSG00000066135 tier1 - - 21 0 0.00 46 12 20.69 KIAA1217 0 genome.wustl.edu 37 10 24762592 24762592 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 10 24762592 24762592 G A SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.1282 p.A428T 0.962 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 10 0 0.00 28 2 6.67 KRTAP1-4 0 genome.wustl.edu 37 17 39186143 39186143 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 17 39186143 39186143 C T SNP KRTAP1-4 ENST00000377747 human ensembl 74_37 -1 known missense c.188 p.C63Y 1.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-4 HGNC ENSG00000204887 tier1 - - 59 0 0.00 175 38 17.84 KRTAP10-5 0 genome.wustl.edu 37 21 45999672 45999672 + Missense_Mutation SNP A A C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 21 45999672 45999672 A C SNP KRTAP10-5 ENST00000400372 human ensembl 74_37 -1 known missense c.784 p.C262G 0.980 NULL NULL - no_errors KRTAP10-5 HGNC ENSG00000241123 tier1 - - 47 0 0.00 94 34 26.56 KRTAP2-4 0 genome.wustl.edu 37 17 39221973 39221973 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 17 39221973 39221973 C T SNP KRTAP2-4 ENST00000394015 human ensembl 74_37 -1 known missense c.125 p.R42H 1.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP2-4 HGNC ENSG00000213417 tier1 - - 14 0 0.00 45 11 19.64 LAMB2 0 genome.wustl.edu 37 3 49160628 49160628 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 49160628 49160628 C T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known silent c.4161 p.Q1387 1.000 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 26 0 0.00 56 4 6.67 LAMC3 0 genome.wustl.edu 37 9 133945187 133945187 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 9 133945187 133945187 G A SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known missense c.3019 p.G1007S 0.011 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 tier1 rs141105450 - 22 0 0.00 28 15 34.88 LASP1 0 genome.wustl.edu 37 17 37074987 37074987 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 17 37074987 37074987 G A SNP LASP1 ENST00000318008 human ensembl 74_37 +1 known missense c.742 p.G248S 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Nebulin_35r-motif,pfam_Znf_LIM,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_LIM,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors LASP1 HGNC ENSG00000002834 13 0 0.00 55 5 8.33 LDLR 0 genome.wustl.edu 37 19 11240346 11240346 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 19 11240346 11240346 G A SNP LDLR ENST00000557933 human ensembl 74_37 +1 novel missense c.2609 p.R870Q 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLR HGNC ENSG00000130164 14 0 0.00 23 2 8.00 LINC00152 0 genome.wustl.edu 37 2 87820801 87820801 + RNA SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 87820801 87820801 G T SNP LINC00152 ENST00000331944 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00152 HGNC ENSG00000222041 29 0 0.00 69 4 5.41 LINC00686 0 genome.wustl.edu 37 20 61331792 61331792 + RNA SNP A A G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 20 61331792 61331792 A G SNP LINC00686 ENST00000435412 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00686 HGNC ENSG00000237687 11 0 0.00 28 4 12.50 LOC100287497 0 genome.wustl.edu 37 1 224196625 224196625 + RNA SNP A A G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 224196625 224196625 A G SNP LOC100287497 ENST00000540997 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors RP11-504P24.4 Clone_based_vega_gene ENSG00000185495 tier1 - - 23 0 0.00 88 14 13.73 LOC100996870 0 genome.wustl.edu 37 9 66457330 66457330 + RNA SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 9 66457330 66457330 G T SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.200 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 tier1 - - 26 0 0.00 71 10 12.35 LOC101927343 0 genome.wustl.edu 37 8 104178509 104178509 + RNA SNP T T A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 8 104178509 104178509 T A SNP LOC101927343 ENST00000499522 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-318M2.2 Clone_based_vega_gene ENSG00000247081 tier1 - - 12 0 0.00 52 22 29.73 LOC388282 0 genome.wustl.edu 37 16 57850388 57850388 + Missense_Mutation SNP G G C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 16 57850388 57850388 G C SNP LOC388282 ENST00000335616 human ensembl 74_37 +1 known missense c.307 p.G103R 0.018 NULL NULL - no_errors CTD-2600O9.1 Clone_based_vega_gene ENSG00000187185 tier1 - - 19 0 0.00 30 12 28.57 LPCAT2 0 genome.wustl.edu 37 16 55608567 55608567 + Nonsense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 16 55608567 55608567 C T SNP LPCAT2 ENST00000262134 human ensembl 74_37 +1 known nonsense c.1240 p.R414* 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 tier1 - - 17 0 0.00 45 21 31.82 LPL 0 genome.wustl.edu 37 8 19809439 19809439 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 8 19809439 19809439 C T SNP LPL ENST00000311322 human ensembl 74_37 +1 known missense c.409 p.R137W 0.185 pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,prints_Lipase,tigrfam_Lipo_Lipase pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,prints_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase - no_errors LPL HGNC ENSG00000175445 tier1 - - 17 0 0.00 28 23 45.10 LRP2 0 genome.wustl.edu 37 2 170034503 170034503 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 170034503 170034503 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known silent c.10203 p.T3401 0.002 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 16 0 0.00 35 10 22.22 LRP2 0 genome.wustl.edu 37 2 170053496 170053496 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 170053496 170053496 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.8623 p.R2875C 0.011 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 15 0 0.00 50 3 5.66 LRP2 0 genome.wustl.edu 37 2 170096247 170096247 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 170096247 170096247 G T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.4084 p.H1362N 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 11 0 0.00 39 4 9.30 LRP4 0 genome.wustl.edu 37 11 46890564 46890564 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 11 46890564 46890564 G A SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known silent c.4812 p.I1604 0.995 NULL pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 tier1 - - 12 0 0.00 37 12 24.49 LRRC16A 0 genome.wustl.edu 37 6 25500404 25500404 + Silent SNP T T C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 6 25500404 25500404 T C SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel silent c.1336 p.L446 0.003 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 tier1 - - 26 0 0.00 119 29 19.59 LRRC41 0 genome.wustl.edu 37 1 46726876 46726877 + RNA INS - - T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 46726876 46726877 - T INS LRRC41 ENST00000496156 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors LRRC41 HGNC ENSG00000132128 tier1 17 0 0.00 53 7 11.67 LRWD1 0 genome.wustl.edu 37 7 102109466 102109466 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 7 102109466 102109466 C T SNP LRWD1 ENST00000292616 human ensembl 74_37 +1 known silent c.1185 p.I395 0.143 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LRWD1 HGNC ENSG00000161036 tier1 - - 34 0 0.00 70 20 22.22 LTBP3 0 genome.wustl.edu 37 11 65307039 65307039 + Missense_Mutation SNP A A T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 11 65307039 65307039 A T SNP LTBP3 ENST00000301873 human ensembl 74_37 -1 known missense c.3608 p.L1203Q 0.578 superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 tier1 - - 12 0 0.00 53 9 14.52 MAGEA12 0 genome.wustl.edu 37 X 151900213 151900213 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 X 151900213 151900213 C T SNP MAGEA12 ENST00000357916 human ensembl 74_37 -1 known silent c.588 p.V196 0.042 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA12 HGNC ENSG00000213401 tier1 - - 29 0 0.00 30 71 70.30 MAGEE2 0 genome.wustl.edu 37 X 75003938 75003938 + Missense_Mutation SNP C C A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 X 75003938 75003938 C A SNP MAGEE2 ENST00000373359 human ensembl 74_37 -1 known missense c.949 p.D317Y 1.000 pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 tier1 - - 9 0 0.00 10 19 65.52 MAGEE2 0 genome.wustl.edu 37 X 75004272 75004272 + Missense_Mutation SNP T T G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 X 75004272 75004272 T G SNP MAGEE2 ENST00000373359 human ensembl 74_37 -1 known missense c.615 p.K205N 0.002 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 tier1 - - 8 0 0.00 9 4 30.77 MAPK8IP3 0 genome.wustl.edu 37 16 1779535 1779535 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 16 1779535 1779535 G A SNP MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known silent c.558 p.Q186 0.991 pfam_JNK/Rab-associated_protein-1_N pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 tier1 - - 24 0 0.00 67 18 21.18 MC3R 0 genome.wustl.edu 37 20 54824550 54824550 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 20 54824550 54824550 C T SNP MC3R ENST00000243911 human ensembl 74_37 +1 known silent c.651 p.H217 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC ENSG00000124089 tier1 - - 18 0 0.00 41 21 33.87 MEX3C 0 genome.wustl.edu 37 18 48703718 48703718 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 18 48703718 48703718 G T SNP MEX3C ENST00000406189 human ensembl 74_37 -1 known missense c.983 p.T328N 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3C HGNC ENSG00000176624 tier1 - - 28 0 0.00 45 4 8.16 MIEN1 0 genome.wustl.edu 37 17 37885787 37885787 + Nonsense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 17 37885787 37885787 G T SNP MIEN1 ENST00000394231 human ensembl 74_37 -1 known nonsense c.336 p.C112* 0.576 NULL pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ - no_errors MIEN1 HGNC ENSG00000141741 22 0 0.00 76 5 6.17 MIR4279 0 genome.wustl.edu 37 5 31936224 31936224 + RNA SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 5 31936224 31936224 G T SNP MIR4279 ENST00000582091 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors MIR4279 HGNC ENSG00000266243 12 0 0.00 76 4 5.00 MLIP 0 genome.wustl.edu 37 6 54001550 54001550 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 6 54001550 54001550 G A SNP MLIP ENST00000502396 human ensembl 74_37 +1 putative missense c.683 p.C228Y 1.000 NULL NULL - no_errors MLIP HGNC ENSG00000146147 tier1 - - 10 0 0.00 17 11 39.29 MLXIPL 0 genome.wustl.edu 37 7 73008695 73008695 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 7 73008695 73008695 G T SNP MLXIPL ENST00000313375 human ensembl 74_37 -1 known missense c.2349 p.N783K 0.978 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIPL HGNC ENSG00000009950 16 0 0.00 31 3 8.82 MMP9 0 genome.wustl.edu 37 20 44641948 44641948 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 20 44641948 44641948 C T SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known missense c.1385 p.T462M 0.077 NULL pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 21 0 0.00 87 8 8.42 MMS22L 0 genome.wustl.edu 37 6 97609916 97609916 + Missense_Mutation SNP C C G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 6 97609916 97609916 C G SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known missense c.3347 p.G1116A 0.117 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 13 0 0.00 60 8 11.76 MT-CO2 0 genome.wustl.edu 37 MT 7887 7887 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 MT 7887 7887 G A SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known missense c.302 p.G101D NULL pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 tier1 - - 120 0 0.00 667 65 8.87 MYLIP 0 genome.wustl.edu 37 6 16130975 16130975 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 6 16130975 16130975 C T SNP MYLIP ENST00000356840 human ensembl 74_37 +1 known missense c.275 p.T92I 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_N,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,pfscan_Znf_RING,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors MYLIP HGNC ENSG00000007944 tier1 - - 15 0 0.00 44 19 30.16 MYOM1 0 genome.wustl.edu 37 18 3188780 3188780 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 18 3188780 3188780 C T SNP MYOM1 ENST00000356443 human ensembl 74_37 -1 known missense c.737 p.R246Q 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 tier1 - - 15 0 0.00 23 29 55.77 NAGPA 0 genome.wustl.edu 37 16 5078127 5078127 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 16 5078127 5078127 G T SNP NAGPA ENST00000312251 human ensembl 74_37 -1 known missense c.980 p.P327H 0.984 NULL pfam_DUF2233,pfscan_EG-like_dom - no_errors NAGPA HGNC ENSG00000103174 23 0 0.00 54 4 6.90 NALCN 0 genome.wustl.edu 37 13 102029402 102029402 + Silent SNP A A G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 13 102029402 102029402 A G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known silent c.381 p.F127 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 13 0 0.00 37 4 9.76 NANOS3 0 genome.wustl.edu 37 19 13988559 13988559 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 19 13988559 13988559 G T SNP NANOS3 ENST00000339133 human ensembl 74_37 +1 known missense c.497 p.R166L 0.132 NULL pfam_Znf_nanos-typ - no_errors NANOS3 HGNC ENSG00000187556 15 0 0.00 32 2 5.71 NAP1L6 0 genome.wustl.edu 37 X 72347489 72347489 + Missense_Mutation SNP T T A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 X 72347489 72347489 T A SNP NAP1L6 ENST00000373518 human ensembl 74_37 -1 known missense c.233 p.K78M 0.982 pfam_NAP_family pfam_NAP_family - no_errors NAP1L6 HGNC ENSG00000204118 tier1 - - 8 0 0.00 23 9 28.12 NBPF1 0 genome.wustl.edu 37 1 16895640 16895640 + Missense_Mutation SNP A A T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 16895640 16895640 A T SNP NBPF1 ENST00000430580 human ensembl 74_37 -1 novel missense c.2542 p.S848T 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF1 HGNC ENSG00000219481 tier1 - - 136 0 0.00 541 54 9.05 NBPF12 0 genome.wustl.edu 37 1 146398324 146398324 + Nonsense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 146398324 146398324 C T SNP NBPF12 ENST00000446760 human ensembl 74_37 +1 known nonsense c.310 p.R104* 0.001 NULL pfam_NBPF_dom - no_errors NBPF12 HGNC ENSG00000186275 tier1 - - 36 0 0.00 194 27 12.22 NFXL1 0 genome.wustl.edu 37 4 47915995 47915995 + Missense_Mutation SNP C C A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 4 47915995 47915995 C A SNP NFXL1 ENST00000381538 human ensembl 74_37 -1 known missense c.226 p.A76S 0.005 NULL pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING - no_errors NFXL1 HGNC ENSG00000170448 10 0 0.00 47 4 7.84 NHSL2 0 genome.wustl.edu 37 X 71359668 71359668 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 X 71359668 71359668 C T SNP NHSL2 ENST00000540800 human ensembl 74_37 +1 known missense c.2270 p.P757L 0.996 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 tier1 - - 12 0 0.00 13 15 53.57 NKIRAS2 0 genome.wustl.edu 37 17 40175837 40175837 + Missense_Mutation SNP A A G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 17 40175837 40175837 A G SNP NKIRAS2 ENST00000307641 human ensembl 74_37 +1 known missense c.502 p.M168V 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NKIRAS2 HGNC ENSG00000168256 20 0 0.00 73 4 5.19 NLRC5 0 genome.wustl.edu 37 16 57101700 57101700 + Nonsense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 16 57101700 57101700 C T SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known nonsense c.4459 p.Q1487* 0.057 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 15 0 0.00 45 4 8.16 NLRP2 0 genome.wustl.edu 37 19 55494276 55494276 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 19 55494276 55494276 G A SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known missense c.1210 p.V404M 0.099 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 tier1 - - 12 0 0.00 28 22 44.00 NOLC1 0 genome.wustl.edu 37 10 103919022 103919022 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 10 103919022 103919022 G A SNP NOLC1 ENST00000405356 human ensembl 74_37 +1 known missense c.680 p.S227N 0.997 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 tier1 - - 40 0 0.00 74 34 31.48 NPFFR2 0 genome.wustl.edu 37 4 72897917 72897917 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 4 72897917 72897917 G A SNP NPFFR2 ENST00000308744 human ensembl 74_37 +1 known missense c.299 p.R100K 0.078 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 tier1 - - 36 0 0.00 83 35 29.66 NRG3 0 genome.wustl.edu 37 10 84738876 84738876 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 10 84738876 84738876 G T SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.1583 p.G528V 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 tier1 - - 20 0 0.00 52 14 21.21 NRXN3 0 genome.wustl.edu 37 14 80327554 80327554 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 14 80327554 80327554 G A SNP NRXN3 ENST00000557594 human ensembl 74_37 +1 novel silent c.1161 p.S387 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 tier1 - - 24 0 0.00 40 33 44.59 NSUN6 0 genome.wustl.edu 37 10 18903421 18903421 + Silent SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 10 18903421 18903421 G T SNP NSUN6 ENST00000377304 human ensembl 74_37 -1 known silent c.543 p.R181 0.159 pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT - no_errors NSUN6 HGNC ENSG00000241058 tier1 - - 28 0 0.00 89 22 19.82 NUDCD2 0 genome.wustl.edu 37 5 162884088 162884089 + Splice_Site INS - - A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 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 9 0 0.00 27 9 25.00 NWD1 0 genome.wustl.edu 37 19 16902329 16902329 + Missense_Mutation SNP A A G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 19 16902329 16902329 A G SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.3109 p.K1037E 0.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 12 0 0.00 26 2 7.14 OBSCN 0 genome.wustl.edu 37 1 228547658 228547658 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 228547658 228547658 G A SNP OBSCN ENST00000366709 human ensembl 74_37 +1 known silent c.10422 p.S3474 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 18 0 0.00 47 7 12.73 OMD 0 genome.wustl.edu 37 9 95177605 95177605 + Silent SNP T T C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 9 95177605 95177605 T C SNP OMD ENST00000375550 human ensembl 74_37 -1 known silent c.1095 p.Q365 0.998 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors OMD HGNC ENSG00000127083 tier1 - - 22 0 0.00 65 17 20.73 OR4C5 0 genome.wustl.edu 37 11 48387258 48387258 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 11 48387258 48387258 C T SNP OR4C5 ENST00000319813 human ensembl 74_37 -1 known missense c.760 p.A254T 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C5 HGNC ENSG00000176540 tier1 rs78030134 - 19 0 0.00 33 22 40.00 ORM1 0 genome.wustl.edu 37 9 117085825 117085825 + Missense_Mutation SNP C C G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 9 117085825 117085825 C G SNP ORM1 ENST00000538816 human ensembl 74_37 +1 known missense c.412 p.P138A 0.000 NULL NULL - no_errors ORM1 HGNC ENSG00000229314 tier1 - - 30 0 0.00 27 6 18.18 OXER1 0 genome.wustl.edu 37 2 42990955 42990955 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 42990955 42990955 C T SNP OXER1 ENST00000378661 human ensembl 74_37 -1 known missense c.365 p.R122Q 0.473 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OXER1 HGNC ENSG00000162881 12 0 0.00 34 6 15.00 PALLD 0 genome.wustl.edu 37 4 169604255 169604255 + Splice_Site SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 4 169604255 169604255 G A SNP PALLD ENST00000261509 human ensembl 74_37 +1 known splice_site c.1260+1 e4+1 1.000 - - - no_errors PALLD HGNC ENSG00000129116 tier1 - - 11 0 0.00 31 6 16.22 PAQR4 0 genome.wustl.edu 37 16 3021712 3021712 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 16 3021712 3021712 G A SNP PAQR4 ENST00000318782 human ensembl 74_37 +1 known silent c.585 p.L195 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR4 HGNC ENSG00000162073 tier1 - - 46 0 0.00 114 8 6.56 PARD3B 0 genome.wustl.edu 37 2 206050586 206050586 + Missense_Mutation SNP A A T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 206050586 206050586 A T SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known missense c.2023 p.S675C 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 tier1 - - 11 0 0.00 54 18 25.00 PCDH15 0 genome.wustl.edu 37 10 55581894 55581894 + Splice_Site SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 10 55581894 55581894 C T SNP PCDH15 ENST00000373957 human ensembl 74_37 -1 novel splice_site c.2155-1 e17-1 0.002 - - - no_errors PCDH15 HGNC ENSG00000150275 21 0 0.00 65 4 5.80 PCDHA1 0 genome.wustl.edu 37 5 140166141 140166141 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 5 140166141 140166141 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.266 p.R89Q 0.994 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 tier1 - - 37 0 0.00 73 22 23.16 PCDHA9 0 genome.wustl.edu 37 5 140229433 140229433 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 5 140229433 140229433 C T SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.1353 p.N451 0.993 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 tier1 - - 50 0 0.00 116 29 20.00 PCDHGB3 0 genome.wustl.edu 37 5 140750854 140750854 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 5 140750854 140750854 C T SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.893 p.T298M 0.010 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 13 0 0.00 23 4 14.81 PCDHGB7 0 genome.wustl.edu 37 5 140799290 140799290 + Nonsense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 5 140799290 140799290 C T SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known nonsense c.1864 p.R622* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 tier1 - - 12 0 0.00 38 12 23.53 PCNT 0 genome.wustl.edu 37 21 47783684 47783684 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 21 47783684 47783684 C T SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.2444 p.T815M 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 9 0 0.00 22 2 8.33 PDLIM1 0 genome.wustl.edu 37 10 97031484 97031484 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 10 97031484 97031484 C T SNP PDLIM1 ENST00000329399 human ensembl 74_37 -1 known missense c.154 p.A52T 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM1 HGNC ENSG00000107438 16 0 0.00 70 4 5.41 PERP 0 genome.wustl.edu 37 6 138417551 138417551 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 6 138417551 138417551 G A SNP PERP ENST00000421351 human ensembl 74_37 -1 known missense c.295 p.L99F 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors PERP HGNC ENSG00000112378 12 0 0.00 35 2 5.41 PGC 0 genome.wustl.edu 37 6 41712488 41712488 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 6 41712488 41712488 C T SNP PGC ENST00000373025 human ensembl 74_37 -1 known missense c.118 p.G40R 0.000 pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors PGC HGNC ENSG00000096088 tier1 - - 28 0 0.00 55 5 8.33 PGR 0 genome.wustl.edu 37 11 100999555 100999555 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 11 100999555 100999555 C T SNP PGR ENST00000325455 human ensembl 74_37 -1 known missense c.247 p.V83M 0.956 pfam_Progest_rcpt pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 21 0 0.00 193 13 6.31 PHF13 0 genome.wustl.edu 37 1 6682342 6682342 + RNA SNP A A G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 6682342 6682342 A G SNP PHF13 ENST00000495385 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PHF13 HGNC ENSG00000116273 tier1 - - 25 0 0.00 117 27 18.75 PKLR 0 genome.wustl.edu 37 1 155261729 155261729 + Splice_Site SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 155261729 155261729 C T SNP PKLR ENST00000342741 human ensembl 74_37 -1 known splice_site c.1437-1 e10-1 1.000 - - - no_errors PKLR HGNC ENSG00000143627 13 0 0.00 27 4 12.90 PLCD1 0 genome.wustl.edu 37 3 38058149 38058149 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 38058149 38058149 G A SNP PLCD1 ENST00000463876 human ensembl 74_37 -1 known silent c.324 p.F108 0.999 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD1 HGNC ENSG00000187091 tier1 - - 12 0 0.00 20 5 20.00 PMS1 0 genome.wustl.edu 37 2 190670539 190670540 + Frame_Shift_Ins INS - - A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 190670539 190670540 - A INS PMS1 ENST00000409985 human ensembl 74_37 +1 novel frame_shift_ins c.477_478 p.K163fs 0.005:0.001 NULL pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd - no_errors PMS1 HGNC ENSG00000064933 tier1 12 0 0.00 45 22 32.84 PNPLA8 0 genome.wustl.edu 37 7 108128261 108128261 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 7 108128261 108128261 G A SNP PNPLA8 ENST00000257694 human ensembl 74_37 -1 known missense c.1820 p.A607V 1.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold - no_errors PNPLA8 HGNC ENSG00000135241 tier1 - - 12 0 0.00 49 12 19.67 PPARGC1A 0 genome.wustl.edu 37 4 23830118 23830118 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 4 23830118 23830118 G T SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known missense c.662 p.P221H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 20 0 0.00 93 5 5.10 PPIA 0 genome.wustl.edu 37 7 44839010 44839010 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 7 44839010 44839010 C T SNP PPIA ENST00000468812 human ensembl 74_37 +1 known silent c.120 p.S40 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIA HGNC ENSG00000196262 16 0 0.00 51 4 7.27 PPP1R14C 0 genome.wustl.edu 37 6 150569882 150569882 + Nonsense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 6 150569882 150569882 G T SNP PPP1R14C ENST00000361131 human ensembl 74_37 +1 known nonsense c.424 p.E142* 1.000 pfam_PP1_inhibitor,superfamily_PP1_inhibitor pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14C HGNC ENSG00000198729 23 0 0.00 70 4 5.41 PRKD1 0 genome.wustl.edu 37 14 30066913 30066913 + Silent SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 14 30066913 30066913 G T SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known silent c.2218 p.R740 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_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 12 0 0.00 37 2 5.13 PRPF8 0 genome.wustl.edu 37 17 1563149 1563149 + Missense_Mutation SNP C C A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 17 1563149 1563149 C A SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known missense c.4932 p.L1644F 1.000 NULL pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 tier1 - - 9 0 0.00 38 14 26.92 PRSS22 0 genome.wustl.edu 37 16 2903947 2903947 + Nonsense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 16 2903947 2903947 G T SNP PRSS22 ENST00000161006 human ensembl 74_37 -1 known nonsense c.636 p.Y212* 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS22 HGNC ENSG00000005001 39 0 0.00 74 4 5.13 PSMB6 0 genome.wustl.edu 37 17 4701691 4701691 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 17 4701691 4701691 G T SNP PSMB6 ENST00000270586 human ensembl 74_37 +1 known missense c.694 p.A232S 0.984 NULL pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB6 HGNC ENSG00000142507 8 0 0.00 21 4 16.00 PTCH1 0 genome.wustl.edu 37 9 98220417 98220417 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 9 98220417 98220417 G T SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.3046 p.L1016I 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 9 0 0.00 17 2 10.53 PTPRG 0 genome.wustl.edu 37 3 62189529 62189529 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 62189529 62189529 G A SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known missense c.2060 p.G687E 0.001 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 19 0 0.00 39 7 15.22 PTPRT 0 genome.wustl.edu 37 20 41101125 41101125 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 20 41101125 41101125 C T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.1231 p.G411S 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 18 0 0.00 37 17 31.48 PUS7L 0 genome.wustl.edu 37 12 44124365 44124365 + Nonsense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 12 44124365 44124365 G T SNP PUS7L ENST00000344862 human ensembl 74_37 -1 known nonsense c.1920 p.C640* 1.000 pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7L HGNC ENSG00000129317 23 0 0.00 66 4 5.71 RABL2A 0 genome.wustl.edu 37 2 114400757 114400757 + RNA SNP T T C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 114400757 114400757 T C SNP RABL2A ENST00000478880 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RABL2A HGNC ENSG00000144134 tier1 - - 27 0 0.00 63 24 27.59 RAD51 0 genome.wustl.edu 37 15 40993374 40993374 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 15 40993374 40993374 G T SNP RAD51 ENST00000382643 human ensembl 74_37 +1 known missense c.200 p.S67I 1.000 superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,tigrfam_DNA_recomb/repair_Rad51 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DNA_recomb/repair_Rad51 - no_errors RAD51 HGNC ENSG00000051180 8 0 0.00 35 2 5.41 RAD54L2 0 genome.wustl.edu 37 3 51664825 51664825 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 51664825 51664825 G A SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known missense c.703 p.V235I 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 tier1 - - 12 0 0.00 37 10 21.28 RANBP2 0 genome.wustl.edu 37 2 109382709 109382709 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 109382709 109382709 C T SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.5714 p.P1905L 0.042 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 tier1 - - 49 0 0.00 328 61 15.64 RBM14-RBM4 0 genome.wustl.edu 37 11 66384105 66384105 + RNA SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 11 66384105 66384105 C T SNP RBM14-RBM4 ENST00000511114 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RBM14-RBM4 HGNC ENSG00000248643 8 0 0.00 60 6 9.09 RBM27 0 genome.wustl.edu 37 5 145609304 145609304 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 5 145609304 145609304 C T SNP RBM27 ENST00000265271 human ensembl 74_37 +1 known silent c.420 p.D140 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 tier1 - - 12 0 0.00 21 11 34.38 RCVRN 0 genome.wustl.edu 37 17 9808122 9808122 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 17 9808122 9808122 C T SNP RCVRN ENST00000226193 human ensembl 74_37 -1 known missense c.376 p.V126I 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors RCVRN HGNC ENSG00000109047 tier1 - - 9 0 0.00 27 9 25.00 REXO1 0 genome.wustl.edu 37 19 1816336 1816336 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 19 1816336 1816336 G A SNP REXO1 ENST00000170168 human ensembl 74_37 -1 known silent c.3465 p.H1155 0.998 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 9 0 0.00 26 2 7.14 RORA 0 genome.wustl.edu 37 15 60803593 60803593 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 15 60803593 60803593 C T SNP RORA ENST00000261523 human ensembl 74_37 -1 known missense c.751 p.V251I 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORA HGNC ENSG00000069667 tier1 rs140905032 - 10 0 0.00 40 11 21.57 RPS6KA4 0 genome.wustl.edu 37 11 64128017 64128017 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 11 64128017 64128017 C T SNP RPS6KA4 ENST00000334205 human ensembl 74_37 +1 known missense c.415 p.R139C 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA4 HGNC ENSG00000162302 10 0 0.00 31 4 11.43 RRBP1 0 genome.wustl.edu 37 20 17608209 17608212 + Frame_Shift_Del DEL TCTC TCTC - TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 TCTC TCTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 20 17608209 17608212 TCTC - DEL RRBP1 ENST00000246043 human ensembl 74_37 -1 known frame_shift_del c.2868_2865 p.R956fs 0.963:0.997:1.000:1.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 tier1 10 0 0.00 32 9 21.95 RYR2 0 genome.wustl.edu 37 1 237666695 237666695 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 237666695 237666695 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.2497 p.E833K 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 10 0 0.00 36 6 14.29 SCGB1D2 0 genome.wustl.edu 37 11 62010902 62010902 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 11 62010902 62010902 C T SNP SCGB1D2 ENST00000244926 human ensembl 74_37 +1 known missense c.197 p.T66M 0.000 pfam_Secretoglobin,superfamily_Secretoglobin pfam_Secretoglobin,superfamily_Secretoglobin - no_errors SCGB1D2 HGNC ENSG00000124935 tier1 - - 9 0 0.00 37 24 39.34 SCN5A 0 genome.wustl.edu 37 3 38603922 38603922 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 38603922 38603922 C T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.3947 p.R1316Q 0.988 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 12 0 0.00 23 4 14.81 SDF4 0 genome.wustl.edu 37 1 1164049 1164049 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 1164049 1164049 G A SNP SDF4 ENST00000360001 human ensembl 74_37 -1 known missense c.125 p.S42L 0.998 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SDF4 HGNC ENSG00000078808 tier1 - - 16 0 0.00 27 12 30.77 SEC22B 0 genome.wustl.edu 37 1 145116048 145116048 + RNA SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 145116048 145116048 C T SNP SEC22B ENST00000453618 human ensembl 74_37 +1 known rna NULL NULL 0.944 - - - no_errors SEC22B HGNC ENSG00000223380 tier1 rs12076894 - 13 0 0.00 63 12 16.00 SELP 0 genome.wustl.edu 37 1 169581488 169581488 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 169581488 169581488 C T SNP SELP ENST00000263686 human ensembl 74_37 -1 known missense c.928 p.G310R 0.942 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 tier1 - - 32 0 0.00 70 11 13.58 SERPINE3 0 genome.wustl.edu 37 13 51922369 51922369 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 13 51922369 51922369 G T SNP SERPINE3 ENST00000521255 human ensembl 74_37 +1 known missense c.721 p.G241C 0.008 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE3 HGNC ENSG00000253309 20 0 0.00 56 4 6.67 SERPINF1 0 genome.wustl.edu 37 17 1680027 1680027 + Nonsense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 17 1680027 1680027 C T SNP SERPINF1 ENST00000254722 human ensembl 74_37 +1 known nonsense c.988 p.Q330* 0.969 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINF1 HGNC ENSG00000132386 11 0 0.00 27 4 12.90 SH3KBP1 0 genome.wustl.edu 37 X 19713766 19713766 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 X 19713766 19713766 G T SNP SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known missense c.484 p.L162I 0.504 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 9 0 0.00 40 4 9.09 SHC4 0 genome.wustl.edu 37 15 49127098 49127098 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 15 49127098 49127098 C T SNP SHC4 ENST00000332408 human ensembl 74_37 -1 known silent c.1605 p.A535 0.008 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC4 HGNC ENSG00000185634 tier1 rs141070519 - 16 0 0.00 26 15 36.59 SIPA1L2 0 genome.wustl.edu 37 1 232561444 232561444 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 232561444 232561444 G A SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known silent c.4521 p.S1507 0.895 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 tier1 - - 26 0 0.00 57 8 12.31 SIRPB1 0 genome.wustl.edu 37 20 1592048 1592048 + Frame_Shift_Del DEL G G - TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 20 1592048 1592048 G 0 DEL SIRPB1 ENST00000279477 human ensembl 74_37 -1 known frame_shift_del c.388 p.H130fs 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPB1 HGNC ENSG00000101307 17 0 0.00 73 7 8.75 SLC28A1 0 genome.wustl.edu 37 15 85486698 85486698 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 15 85486698 85486698 C T SNP SLC28A1 ENST00000286749 human ensembl 74_37 +1 known missense c.1604 p.T535M 0.958 pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A1 HGNC ENSG00000156222 tier1 - - 27 0 0.00 29 9 23.68 SLC2A7 0 genome.wustl.edu 37 1 9070276 9070276 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 9070276 9070276 G A SNP SLC2A7 ENST00000400906 human ensembl 74_37 -1 known missense c.1042 p.R348W 0.003 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A7 HGNC ENSG00000197241 tier1 - - 23 0 0.00 60 38 37.62 SLC32A1 0 genome.wustl.edu 37 20 37357187 37357187 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 20 37357187 37357187 G A SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known missense c.1483 p.A495T 0.997 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 16 0 0.00 67 4 5.63 SLC38A2 0 genome.wustl.edu 37 12 46758906 46758906 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 12 46758906 46758906 C T SNP SLC38A2 ENST00000256689 human ensembl 74_37 -1 known silent c.630 p.S210 0.053 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A2 HGNC ENSG00000134294 11 0 0.00 35 4 10.26 SLC6A14 0 genome.wustl.edu 37 X 115569091 115569091 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 X 115569091 115569091 G T SNP SLC6A14 ENST00000371900 human ensembl 74_37 +1 known missense c.182 p.R61I 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A14 HGNC ENSG00000087916 17 0 0.00 61 4 6.15 SLC6A3 0 genome.wustl.edu 37 5 1409228 1409228 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 5 1409228 1409228 C T SNP SLC6A3 ENST00000270349 human ensembl 74_37 -1 known missense c.1411 p.V471I 0.999 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 14 0 0.00 65 9 12.16 SLIT2 0 genome.wustl.edu 37 4 20618585 20618585 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 4 20618585 20618585 C T SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known silent c.3900 p.N1300 0.348 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 15 0 0.00 34 5 12.82 SMIM11 0 genome.wustl.edu 37 21 35774491 35774492 + RNA INS - - T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 21 35774491 35774492 - T INS SMIM11 ENST00000481710 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.002 - - - no_errors SMIM11 HGNC ENSG00000205670 tier1 11 0 0.00 39 5 11.36 SNORD114-6 0 genome.wustl.edu 37 14 101423544 101423544 + RNA SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 14 101423544 101423544 G T SNP SNORD114-6 ENST00000364393 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors SNORD114-6 HGNC ENSG00000201263 tier1 - - 10 0 0.00 34 6 15.00 SPACA1 0 genome.wustl.edu 37 6 88757798 88757798 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 6 88757798 88757798 G A SNP SPACA1 ENST00000237201 human ensembl 74_37 +1 known missense c.175 p.A59T 0.000 NULL NULL - no_errors SPACA1 HGNC ENSG00000118434 tier1 rs145474393 - 8 0 0.00 27 8 22.86 SPATS2 0 genome.wustl.edu 37 12 49884473 49884473 + Missense_Mutation SNP A A T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 12 49884473 49884473 A T SNP SPATS2 ENST00000321898 human ensembl 74_37 +1 known missense c.223 p.S75C 1.000 superfamily_UBA-like pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2 HGNC ENSG00000123352 23 0 0.00 44 4 8.33 SPEG 0 genome.wustl.edu 37 2 220343878 220343878 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 220343878 220343878 G T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.5040 p.E1680D 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 SPEG HGNC ENSG00000072195 21 0 0.00 35 5 12.50 SPOCD1 0 genome.wustl.edu 37 1 32256313 32256313 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 32256313 32256313 C T SNP SPOCD1 ENST00000360482 human ensembl 74_37 -1 known missense c.3542 p.R1181H 0.001 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 tier1 - - 24 0 0.00 37 8 17.78 SRSF11 0 genome.wustl.edu 37 1 70694241 70694241 + RNA SNP T T A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 70694241 70694241 T A SNP SRSF11 ENST00000463877 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SRSF11 HGNC ENSG00000116754 tier1 - - 8 0 0.00 45 9 16.67 ST8SIA6-AS1 0 genome.wustl.edu 37 10 17450200 17450200 + RNA SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 10 17450200 17450200 C T SNP ST8SIA6-AS1 ENST00000377597 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ST8SIA6-AS1 HGNC ENSG00000204832 tier1 - - 9 0 0.00 52 8 13.33 STAG3L4 0 genome.wustl.edu 37 7 66773930 66773930 + RNA SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 7 66773930 66773930 G A SNP STAG3L4 ENST00000416602 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors STAG3L4 HGNC ENSG00000106610 tier1 - - 16 0 0.00 42 10 19.23 STAU1 0 genome.wustl.edu 37 20 47734363 47734363 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 20 47734363 47734363 G A SNP STAU1 ENST00000371856 human ensembl 74_37 -1 known missense c.1460 p.T487M 0.998 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU1 HGNC ENSG00000124214 tier1 - - 24 0 0.00 90 13 12.62 STMN2 0 genome.wustl.edu 37 8 80567209 80567209 + Missense_Mutation SNP C C A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 8 80567209 80567209 C A SNP STMN2 ENST00000220876 human ensembl 74_37 +1 known missense c.392 p.A131E 1.000 pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam - no_errors STMN2 HGNC ENSG00000104435 12 0 0.00 46 4 8.00 STXBP5 0 genome.wustl.edu 37 6 147525742 147525742 + Missense_Mutation SNP A A T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 6 147525742 147525742 A T SNP STXBP5 ENST00000321680 human ensembl 74_37 +1 known missense c.74 p.Q25L 1.000 NULL pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 tier1 - - 43 0 0.00 60 47 43.52 STYK1 0 genome.wustl.edu 37 12 10783828 10783828 + Missense_Mutation SNP C C G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 12 10783828 10783828 C G SNP STYK1 ENST00000075503 human ensembl 74_37 -1 known missense c.267 p.E89D 0.945 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STYK1 HGNC ENSG00000060140 19 0 0.00 37 5 11.90 STYK1 0 genome.wustl.edu 37 12 10783829 10783829 + Missense_Mutation SNP T T C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 12 10783829 10783829 T C SNP STYK1 ENST00000075503 human ensembl 74_37 -1 known missense c.266 p.E89G 0.953 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STYK1 HGNC ENSG00000060140 19 0 0.00 37 5 11.90 SUPT4H1 0 genome.wustl.edu 37 17 56423631 56423631 + Silent SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 17 56423631 56423631 G T SNP SUPT4H1 ENST00000225504 human ensembl 74_37 -1 known silent c.330 p.S110 1.000 pirsf_Spt4 pfam_Spt4/RpoE2_Znf,pirsf_Spt4 - no_errors SUPT4H1 HGNC ENSG00000213246 16 0 0.00 50 5 9.09 SYNE1 0 genome.wustl.edu 37 6 152765617 152765617 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 6 152765617 152765617 G T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.3766 p.Q1256K 0.993 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 14 0 0.00 64 4 5.88 SYT3 0 genome.wustl.edu 37 19 51135688 51135688 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 19 51135688 51135688 C T SNP SYT3 ENST00000338916 human ensembl 74_37 -1 known missense c.529 p.A177T 0.609 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT3 HGNC ENSG00000213023 23 0 0.00 53 3 5.36 TAAR5 0 genome.wustl.edu 37 6 132910410 132910410 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 6 132910410 132910410 G A SNP TAAR5 ENST00000258034 human ensembl 74_37 -1 known missense c.416 p.P139L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR5 HGNC ENSG00000135569 tier1 - - 13 0 0.00 24 6 20.00 TACC2 0 genome.wustl.edu 37 10 123843281 123843281 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 10 123843281 123843281 C T SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known silent c.1266 p.L422 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 13 0 0.00 29 2 6.45 TACR3 0 genome.wustl.edu 37 4 104640303 104640303 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 4 104640303 104640303 G T SNP TACR3 ENST00000304883 human ensembl 74_37 -1 known missense c.530 p.T177K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 8 0 0.00 18 3 14.29 TBC1D22B 0 genome.wustl.edu 37 6 37247304 37247304 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 6 37247304 37247304 G A SNP TBC1D22B ENST00000373491 human ensembl 74_37 +1 known missense c.338 p.R113Q 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC ENSG00000065491 tier1 - - 11 0 0.00 19 6 24.00 TBC1D2B 0 genome.wustl.edu 37 15 78290609 78290609 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 15 78290609 78290609 G A SNP TBC1D2B ENST00000300584 human ensembl 74_37 -1 known missense c.2785 p.R929W 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2B HGNC ENSG00000167202 tier1 - - 19 0 0.00 50 9 15.25 TBX2 0 genome.wustl.edu 37 17 59479069 59479069 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 17 59479069 59479069 G T SNP TBX2 ENST00000419047 human ensembl 74_37 +1 known missense c.398 p.C133F 0.999 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,pfscan_TF_T-box - no_errors TBX2 HGNC ENSG00000121068 16 0 0.00 57 4 6.56 TBX2 0 genome.wustl.edu 37 17 59482957 59482957 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 17 59482957 59482957 G A SNP TBX2 ENST00000240328 human ensembl 74_37 +1 novel silent c.1446 p.P482 0.001 NULL pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX2 HGNC ENSG00000121068 8 0 0.00 57 5 8.06 TCEB3B 0 genome.wustl.edu 37 18 44560118 44560118 + Silent SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 18 44560118 44560118 G T SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known silent c.1518 p.R506 0.001 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 17 0 0.00 39 4 9.30 TCHH 0 genome.wustl.edu 37 1 152082656 152082656 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 152082656 152082656 G A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.3037 p.R1013C 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 - - 25 0 0.00 64 30 31.58 TCP11 0 genome.wustl.edu 37 6 35108644 35108644 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 6 35108644 35108644 G T SNP TCP11 ENST00000311875 human ensembl 74_37 -1 known missense c.43 p.P15T 0.414 NULL pfam_Tcp11 - no_errors TCP11 HGNC ENSG00000124678 11 0 0.00 25 2 7.14 TEAD4 0 genome.wustl.edu 37 12 3120205 3120205 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 12 3120205 3120205 C T SNP TEAD4 ENST00000359864 human ensembl 74_37 +1 known missense c.262 p.R88W 0.881 pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD4 HGNC ENSG00000197905 tier1 - - 13 0 0.00 27 9 25.00 TEKT1 0 genome.wustl.edu 37 17 6704115 6704115 + Nonsense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 17 6704115 6704115 G A SNP TEKT1 ENST00000338694 human ensembl 74_37 -1 known nonsense c.1000 p.Q334* 0.992 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC ENSG00000167858 tier1 - - 31 0 0.00 29 24 45.28 TLN1 0 genome.wustl.edu 37 9 35711288 35711288 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 9 35711288 35711288 G T SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.3983 p.A1328D 1.000 pfam_Vinculin-bd_dom,superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 13 0 0.00 23 3 11.54 TLN2 0 genome.wustl.edu 37 15 63004130 63004130 + Missense_Mutation SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 15 63004130 63004130 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.2488 p.R830W 0.995 NULL pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 tier1 - - 12 0 0.00 32 11 25.58 TMCO3 0 genome.wustl.edu 37 13 114188437 114188437 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 13 114188437 114188437 G T SNP TMCO3 ENST00000434316 human ensembl 74_37 +1 known missense c.1421 p.C474F 1.000 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 20 0 0.00 72 5 6.49 TMEM14B 0 genome.wustl.edu 37 6 10749996 10749996 + RNA SNP T T C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 6 10749996 10749996 T C SNP TMEM14B ENST00000492297 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM14B HGNC ENSG00000137210 tier1 - - 14 0 0.00 62 19 23.46 TMEM223 0 genome.wustl.edu 37 11 62558224 62558224 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 11 62558224 62558224 C T SNP TMEM223 ENST00000307366 human ensembl 74_37 -1 known silent c.480 p.R160 0.003 NULL NULL - no_errors TMEM223 HGNC ENSG00000168569 9 0 0.00 42 6 12.50 TMEM253 0 genome.wustl.edu 37 14 21571353 21571353 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 14 21571353 21571353 G A SNP TMEM253 ENST00000418511 human ensembl 74_37 +1 known missense c.590 p.S197N 0.045 NULL NULL - no_errors TMEM253 HGNC ENSG00000232070 10 0 0.00 34 4 10.53 TMEM39A 0 genome.wustl.edu 37 3 119155655 119155655 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 119155655 119155655 G T SNP TMEM39A ENST00000319172 human ensembl 74_37 -1 known missense c.1095 p.S365R 1.000 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39A HGNC ENSG00000176142 15 0 0.00 54 4 6.90 TNRC6B 0 genome.wustl.edu 37 22 40661099 40661099 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 22 40661099 40661099 G T SNP TNRC6B ENST00000454349 human ensembl 74_37 +1 known missense c.865 p.G289C 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 11 0 0.00 33 4 10.81 TP53 0 genome.wustl.edu 37 17 7577022 7577022 + Nonsense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 17 7577022 7577022 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.916 p.R306* 1.000 NULL 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 rs121913344 - 30 0 0.00 24 21 46.67 TRAIP 0 genome.wustl.edu 37 3 49869368 49869368 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 49869368 49869368 G T SNP TRAIP ENST00000331456 human ensembl 74_37 -1 known missense c.1018 p.L340I 0.686 NULL pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors TRAIP HGNC ENSG00000183763 17 0 0.00 46 5 9.80 TRAK2 0 genome.wustl.edu 37 2 202251000 202251000 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 202251000 202251000 G A SNP TRAK2 ENST00000332624 human ensembl 74_37 -1 known missense c.1904 p.S635F 0.203 NULL pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 9 0 0.00 27 2 6.90 TRIML2 0 genome.wustl.edu 37 4 189013060 189013060 + Missense_Mutation SNP A A G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 4 189013060 189013060 A G SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.631 p.C211R 0.006 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 tier1 - - 15 0 0.00 32 6 15.79 TRPM3 0 genome.wustl.edu 37 9 73399063 73399063 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 9 73399063 73399063 G A SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.1187 p.S396L 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 tier1 - - 24 0 0.00 35 10 22.22 TTN 0 genome.wustl.edu 37 2 179585679 179585679 + Silent SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 179585679 179585679 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.19335 p.D6445 0.120 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,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 8 0 0.00 38 3 7.32 UBE2O 0 genome.wustl.edu 37 17 74395954 74395954 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 17 74395954 74395954 G A SNP UBE2O ENST00000319380 human ensembl 74_37 -1 known missense c.1204 p.P402S 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 tier1 - - 15 0 0.00 37 8 17.78 ULK1 0 genome.wustl.edu 37 12 132396489 132396489 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 12 132396489 132396489 C T SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known silent c.951 p.S317 1.000 superfamily_Kinase-like_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 tier1 - - 19 0 0.00 25 8 24.24 UNC13A 0 genome.wustl.edu 37 19 17720882 17720882 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 19 17720882 17720882 G T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.4942 p.Q1648K 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 tier1 - - 32 0 0.00 46 4 8.00 UNC13C 0 genome.wustl.edu 37 15 54305910 54305910 + Silent SNP C C G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 15 54305910 54305910 C G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known silent c.810 p.L270 0.992 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 13 0 0.00 32 12 27.27 UNC5D 0 genome.wustl.edu 37 8 35608203 35608203 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 8 35608203 35608203 G A SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.2039 p.G680E 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 tier1 - - 32 0 0.00 50 17 25.37 USP17L10 0 genome.wustl.edu 37 4 9213897 9213897 + Silent SNP C C G TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 4 9213897 9213897 C G SNP USP17L10 ENST00000417945 human ensembl 74_37 +1 novel silent c.1515 p.L505 0.004 NULL pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L10 HGNC ENSG00000231396 tier1 - - 20 0 0.00 96 41 29.93 UXS1 0 genome.wustl.edu 37 2 106774546 106774546 + Missense_Mutation SNP A A C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 2 106774546 106774546 A C SNP UXS1 ENST00000283148 human ensembl 74_37 -1 known missense c.259 p.F87V 1.000 NULL pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase - no_errors UXS1 HGNC ENSG00000115652 tier1 - - 12 0 0.00 87 23 20.91 WASH3P 0 genome.wustl.edu 37 15 102506230 102506230 + RNA SNP A A C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 15 102506230 102506230 A C SNP WASH3P ENST00000558686 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors WASH3P HGNC ENSG00000185596 tier1 - - 38 0 0.00 77 17 17.89 WASH3P 0 genome.wustl.edu 37 15 102506248 102506248 + RNA SNP G G C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 15 102506248 102506248 G C SNP WASH3P ENST00000558686 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors WASH3P HGNC ENSG00000185596 tier1 - - 44 0 0.00 100 16 13.79 WHAMMP2 0 genome.wustl.edu 37 15 28991270 28991270 + RNA SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 15 28991270 28991270 G A SNP WHAMMP2 ENST00000508764 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors WHAMMP2 HGNC ENSG00000248334 tier1 - - 30 0 0.00 119 10 7.75 WNT16 0 genome.wustl.edu 37 7 120971879 120971879 + Frame_Shift_Del DEL G G - TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 7 120971879 120971879 G - DEL WNT16 ENST00000222462 human ensembl 74_37 +1 known frame_shift_del c.494 p.G167fs 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt - no_errors WNT16 HGNC ENSG00000002745 tier1 23 0 0.00 32 3 8.57 WNT2B 0 genome.wustl.edu 37 1 113062921 113062921 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 1 113062921 113062921 C T SNP WNT2B ENST00000369684 human ensembl 74_37 +1 known silent c.966 p.G322 0.995 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2B HGNC ENSG00000134245 9 0 0.00 32 4 11.11 WWC3 0 genome.wustl.edu 37 X 10046905 10046905 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 X 10046905 10046905 G T SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.287 p.R96L 1.000 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 17 0 0.00 62 4 6.06 ZBTB25 0 genome.wustl.edu 37 14 64957115 64957115 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 14 64957115 64957115 G T SNP ZBTB25 ENST00000394715 human ensembl 74_37 -1 known missense c.137 p.S46Y 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB25 HGNC ENSG00000089775 11 0 0.00 33 2 5.71 ZBTB49 0 genome.wustl.edu 37 4 4303750 4303750 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 4 4303750 4303750 G A SNP ZBTB49 ENST00000337872 human ensembl 74_37 +1 known missense c.187 p.D63N 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB49 HGNC ENSG00000168826 tier1 - - 12 0 0.00 46 17 26.98 ZCRB1 0 genome.wustl.edu 37 12 42711657 42711657 + Missense_Mutation SNP C C A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 12 42711657 42711657 C A SNP ZCRB1 ENST00000266529 human ensembl 74_37 -1 known missense c.157 p.V53F 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_RRM_dom_euk,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors ZCRB1 HGNC ENSG00000139168 tier1 - - 11 0 0.00 33 8 19.51 ZDHHC11B 0 genome.wustl.edu 37 5 712139 712139 + RNA SNP T T A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 5 712139 712139 T A SNP ZDHHC11B ENST00000522356 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZDHHC11B HGNC ENSG00000206077 tier1 rs111351502 - 14 0 0.00 21 7 25.00 ZDHHC19 0 genome.wustl.edu 37 3 195936290 195936290 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 3 195936290 195936290 G A SNP ZDHHC19 ENST00000296326 human ensembl 74_37 -1 known missense c.365 p.P122L 0.997 pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC19 HGNC ENSG00000163958 tier1 rs200834357 - 44 0 0.00 77 23 22.77 ZFP30 0 genome.wustl.edu 37 19 38127108 38127108 + Missense_Mutation SNP A A C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 19 38127108 38127108 A C SNP ZFP30 ENST00000351218 human ensembl 74_37 -1 known missense c.334 p.C112G 0.000 NULL 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 ZFP30 HGNC ENSG00000120784 tier1 - - 13 0 0.00 72 14 16.28 ZNF107 0 genome.wustl.edu 37 7 64167088 64167088 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 7 64167088 64167088 G A SNP ZNF107 ENST00000344930 human ensembl 74_37 +1 known missense c.406 p.E136K 0.017 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 11 0 0.00 57 5 8.06 ZNF229 0 genome.wustl.edu 37 19 44932920 44932920 + Missense_Mutation SNP G G C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 19 44932920 44932920 G C SNP ZNF229 ENST00000588931 human ensembl 74_37 -1 known missense c.2036 p.T679R 0.997 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 ZNF229 HGNC ENSG00000167383 11 0 0.00 48 3 5.88 ZNF263 0 genome.wustl.edu 37 16 3336109 3336109 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 16 3336109 3336109 G T SNP ZNF263 ENST00000219069 human ensembl 74_37 +1 known missense c.729 p.R243S 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF263 HGNC ENSG00000006194 14 0 0.00 55 4 6.78 ZNF446 0 genome.wustl.edu 37 19 58991386 58991386 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 19 58991386 58991386 G A SNP ZNF446 ENST00000594369 human ensembl 74_37 +1 known missense c.802 p.G268R 0.530 NULL 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_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 tier1 - - 35 0 0.00 65 14 17.72 ZNF675 0 genome.wustl.edu 37 19 23836454 23836454 + Silent SNP T T C TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 19 23836454 23836454 T C SNP ZNF675 ENST00000359788 human ensembl 74_37 -1 known silent c.1281 p.E427 0.028 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF675 HGNC ENSG00000197372 tier1 - - 11 0 0.00 61 14 18.67 ZNF711 0 genome.wustl.edu 37 X 84502618 84502618 + Missense_Mutation SNP G G T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 X 84502618 84502618 G T SNP ZNF711 ENST00000276123 human ensembl 74_37 +1 known missense c.40 p.D14Y 1.000 NULL pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 16 0 0.00 71 4 5.33 ZNF853 0 genome.wustl.edu 37 7 6662290 6662290 + Silent SNP C C T TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 7 6662290 6662290 C T SNP ZNF853 ENST00000457543 human ensembl 74_37 +1 known silent c.1668 p.L556 0.215 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF853 HGNC ENSG00000236609 tier1 - - 10 0 0.00 39 7 15.22 ZXDA 0 genome.wustl.edu 37 X 57935854 57935854 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b01013cd-8e6d-48c4-8e7d-04f225494136 4d76ceba-e50b-4887-9978-89db3736dbf5 X 57935854 57935854 G A SNP ZXDA ENST00000358697 human ensembl 74_37 -1 known missense c.1001 p.A334V 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDA HGNC ENSG00000198205 tier1 - - 12 0 0.00 22 28 56.00