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 CELSR2 0 genome.wustl.edu 37 1 109801247 109801247 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 109801247 109801247 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known silent c.3504 p.N1168 1.000 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 14 0 0 2 3 60 SPAG17 0 genome.wustl.edu 37 1 118566057 118566057 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 118566057 118566057 C T SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known silent c.3939 p.R1313 0.966 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 116 0 0 65 7 9.72222 SF3B4 0 genome.wustl.edu 37 1 149895490 149895490 + Missense_Mutation SNP T T A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 149895490 149895490 T A SNP SF3B4 ENST00000271628 human ensembl 74_37 -1 known missense c.1219 p.T407S 0.996 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC ENSG00000143368 13 0 0 9 7 43.75 FLG 0 genome.wustl.edu 37 1 152277533 152277533 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 152277533 152277533 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.9829 p.R3277C 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 729 1 0.136986 814 109 11.8093 ADAM15 0 genome.wustl.edu 37 1 155028289 155028289 + Silent SNP C C G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 155028289 155028289 C G SNP ADAM15 ENST00000356955 human ensembl 74_37 +1 known silent c.636 p.T212 1.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ENSG00000143537 81 0 0 78 23 22.7723 ATP1A2 0 genome.wustl.edu 37 1 160105320 160105320 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 160105320 160105320 G A SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.2212 p.V738I 1.000 superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A2 HGNC ENSG00000018625 105 0 0 31 80 72.0721 SLAMF1 0 genome.wustl.edu 37 1 160607204 160607204 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 160607204 160607204 G A SNP SLAMF1 ENST00000302035 human ensembl 74_37 -1 known silent c.192 p.V64 0.890 pfam_Sig_lymph_act_molc_N pfam_Sig_lymph_act_molc_N,pfscan_Ig-like_dom - no_errors SLAMF1 HGNC ENSG00000117090 145 0 0 153 30 16.3934 OLFML2B 0 genome.wustl.edu 37 1 161954658 161954658 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 161954658 161954658 G A SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known silent c.1587 p.Y529 0.996 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 323 0 0 250 78 23.7805 CEP350 0 genome.wustl.edu 37 1 180062030 180062030 + Missense_Mutation SNP A A G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 180062030 180062030 A G SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.6790 p.T2264A 0.001 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 29 0 0 10 7 41.1765 HMCN1 0 genome.wustl.edu 37 1 186055473 186055473 + Missense_Mutation SNP C C G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 186055473 186055473 C G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.8980 p.P2994A 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 148 0 0 141 36 20.339 CACNA1S 0 genome.wustl.edu 37 1 201047079 201047079 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 201047079 201047079 G A SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.1547 p.S516L 0.101 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 84 0 0 66 23 25.8427 EIF2D 0 genome.wustl.edu 37 1 206776401 206776401 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 206776401 206776401 G A SNP EIF2D ENST00000271764 human ensembl 74_37 -1 known missense c.688 p.H230Y 0.001 NULL pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1 - no_errors EIF2D HGNC ENSG00000143486 235 0 0 210 62 22.7941 USP48 0 genome.wustl.edu 37 1 22032676 22032676 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 22032676 22032676 G A SNP USP48 ENST00000308271 human ensembl 74_37 -1 known missense c.2216 p.T739M 0.309 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 124 0 0 58 28 32.5581 TTC13 0 genome.wustl.edu 37 1 231056309 231056309 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 231056309 231056309 G A SNP TTC13 ENST00000366661 human ensembl 74_37 -1 known missense c.1930 p.R644W 0.596 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC13 HGNC ENSG00000143643 183 0 0 204 51 20 RYR2 0 genome.wustl.edu 37 1 237886549 237886549 + Missense_Mutation SNP T T C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 237886549 237886549 T C SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.10670 p.F3557S 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 115 0 0 106 59 35.7576 RYR2 0 genome.wustl.edu 37 1 237961336 237961336 + Splice_Site SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 237961336 237961336 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known splice_site c.13975-1 e99-1 1.000 - - - no_errors RYR2 HGNC ENSG00000198626 34 0 0 28 8 22.2222 ZDHHC18 0 genome.wustl.edu 37 1 27176839 27176839 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 27176839 27176839 C T SNP ZDHHC18 ENST00000374142 human ensembl 74_37 +1 known missense c.694 p.R232W 1.000 pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC18 HGNC ENSG00000204160 120 0 0 55 39 41.4894 GPR3 0 genome.wustl.edu 37 1 27721178 27721178 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 27721178 27721178 C T SNP GPR3 ENST00000374024 human ensembl 74_37 +1 known silent c.876 p.I292 1.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPR_3/6/12_orphan,prints_GPR3,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR3 HGNC ENSG00000181773 263 0 0 164 22 11.828 CSMD2 0 genome.wustl.edu 37 1 34238227 34238227 + Missense_Mutation SNP T T C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 34238227 34238227 T C SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.1789 p.K597E 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 156 0 0 63 31 32.9787 INPP5B 0 genome.wustl.edu 37 1 38351367 38351367 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 38351367 38351367 C T SNP INPP5B ENST00000373023 human ensembl 74_37 -1 known missense c.1502 p.R501Q 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors INPP5B HGNC ENSG00000204084 235 0 0 105 49 31.8182 HIVEP3 0 genome.wustl.edu 37 1 42050416 42050416 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 42050416 42050416 C T SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.53 p.R18Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 338 0 0 244 79 24.4582 SLC2A1 0 genome.wustl.edu 37 1 43393459 43393459 + Silent SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 43393459 43393459 G T SNP SLC2A1 ENST00000426263 human ensembl 74_37 -1 known silent c.1095 p.S365 1.000 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,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC ENSG00000117394 39 0 0 24 7 22.5806 C1orf168 0 genome.wustl.edu 37 1 57257958 57257958 + Silent SNP C C A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 57257958 57257958 C A SNP C1orf168 ENST00000343433 human ensembl 74_37 -1 known silent c.528 p.G176 0.000 NULL superfamily_SH3_domain - no_errors C1orf168 HGNC ENSG00000187889 235 0 0 109 49 31.0127 COL24A1 0 genome.wustl.edu 37 1 86591736 86591736 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 86591736 86591736 C T SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.283 p.V95M 0.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 153 0 0 75 29 27.8846 CA6 0 genome.wustl.edu 37 1 9011622 9011622 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 9011622 9011622 G A SNP CA6 ENST00000480186 human ensembl 74_37 +1 putative missense c.400 p.A134T 0.002 pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA6 HGNC ENSG00000131686 37 0 0 9 11 55 DCLRE1A 0 genome.wustl.edu 37 10 115608783 115608783 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 10 115608783 115608783 C T SNP DCLRE1A ENST00000361384 human ensembl 74_37 -1 known missense c.2081 p.G694E 0.691 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 607 0 0 476 126 20.9302 TCERG1L 0 genome.wustl.edu 37 10 132965080 132965080 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 10 132965080 132965080 C T SNP TCERG1L ENST00000368642 human ensembl 74_37 -1 known missense c.925 p.D309N 0.016 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1L HGNC ENSG00000176769 60 0 0 47 13 21.6667 ERCC6 0 genome.wustl.edu 37 10 50732109 50732109 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 10 50732109 50732109 C T SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.1367 p.G456E 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 173 0 0 92 61 39.8693 CXCR5 0 genome.wustl.edu 37 11 118764730 118764730 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 11 118764730 118764730 C T SNP CXCR5 ENST00000292174 human ensembl 74_37 +1 known silent c.477 p.R159 0.993 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_ATII_rcpt - no_errors CXCR5 HGNC ENSG00000160683 65 0 0 40 13 24.5283 BCL9L 0 genome.wustl.edu 37 11 118772974 118772974 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 11 118772974 118772974 G A SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.1478 p.P493L 0.944 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 189 0 0 133 42 24 OR10G8 0 genome.wustl.edu 37 11 123900713 123900713 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 11 123900713 123900713 G A SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known silent c.384 p.P128 0.209 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 268 0 0 154 53 25.6039 HTATIP2 0 genome.wustl.edu 37 11 20403748 20403748 + Nonsense_Mutation SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 11 20403748 20403748 G T SNP HTATIP2 ENST00000419348 human ensembl 74_37 +1 known nonsense c.568 p.E190* 1.000 NULL pfam_Semialdehyde_DH_NAD-bd - no_errors HTATIP2 HGNC ENSG00000109854 95 0 0 47 21 30.8824 KIF18A 0 genome.wustl.edu 37 11 28098559 28098559 + Missense_Mutation SNP C C G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 11 28098559 28098559 C G SNP KIF18A ENST00000263181 human ensembl 74_37 -1 known missense c.1420 p.E474Q 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC ENSG00000121621 51 0 0 19 9 32.1429 OR52R1 0 genome.wustl.edu 37 11 4825678 4825678 + Missense_Mutation SNP G G C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 11 4825678 4825678 G C SNP OR52R1 ENST00000380382 human ensembl 74_37 -1 known missense c.170 p.T57S 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52R1 HGNC ENSG00000176937 183 1 0.543478 87 39 30.9524 GLYAT 0 genome.wustl.edu 37 11 58477536 58477536 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 11 58477536 58477536 C T SNP GLYAT ENST00000344743 human ensembl 74_37 -1 known silent c.594 p.E198 0.001 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYAT HGNC ENSG00000149124 175 0 0 143 40 21.8579 CTSW 0 genome.wustl.edu 37 11 65649722 65649722 + Silent SNP T T A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 11 65649722 65649722 T A SNP CTSW ENST00000307886 human ensembl 74_37 +1 known silent c.363 p.S121 0.000 NULL pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSW HGNC ENSG00000172543 78 0 0 59 25 29.7619 FGF3 0 genome.wustl.edu 37 11 69625121 69625121 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 11 69625121 69625121 G A SNP FGF3 ENST00000334134 human ensembl 74_37 -1 known silent c.672 p.H224 0.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF3 HGNC ENSG00000186895 9 0 0 8 5 38.4615 EPS8L2 0 genome.wustl.edu 37 11 724768 724768 + Missense_Mutation SNP T T G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 11 724768 724768 T G SNP EPS8L2 ENST00000318562 human ensembl 74_37 +1 known missense c.1499 p.L500R 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 59 0 0 16 10 38.4615 BRAP 0 genome.wustl.edu 37 12 112119630 112119630 + Missense_Mutation SNP T T A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 12 112119630 112119630 T A SNP BRAP ENST00000419234 human ensembl 74_37 -1 known missense c.254 p.K85I 0.035 NULL pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC ENSG00000089234 105 0 0 94 34 26.5625 SRRM4 0 genome.wustl.edu 37 12 119592119 119592119 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 12 119592119 119592119 G A SNP SRRM4 ENST00000267260 human ensembl 74_37 +1 known missense c.1463 p.R488Q 0.992 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 13 0 0 11 4 26.6667 KNTC1 0 genome.wustl.edu 37 12 123087726 123087726 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 12 123087726 123087726 C T SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known silent c.5037 p.L1679 0.001 pfam_RZZ-complex_KNTC1/ROD_C pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 38 0 0 28 13 31.7073 VWF 0 genome.wustl.edu 37 12 6103352 6103352 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 12 6103352 6103352 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.6274 p.G2092R 0.745 pirsf_VWF,pfam_VWF_type-D,smart_VWF_type-D pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 108 0 0 77 21 21.4286 FGD6 0 genome.wustl.edu 37 12 95602789 95602789 + Missense_Mutation SNP T T C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 12 95602789 95602789 T C SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known missense c.2271 p.I757M 0.997 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 244 0 0 157 62 28.3105 MYO16 0 genome.wustl.edu 37 13 109475609 109475609 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 13 109475609 109475609 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.1014 p.P338 0.000 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 315 0 0 352 21 5.63003 KBTBD7 0 genome.wustl.edu 37 13 41768160 41768160 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 13 41768160 41768160 C T SNP KBTBD7 ENST00000379483 human ensembl 74_37 -1 known silent c.234 p.T78 0.458 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD7 HGNC ENSG00000120696 87 0 0 95 7 6.86275 PCDH17 0 genome.wustl.edu 37 13 58207716 58207716 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 13 58207716 58207716 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.1036 p.D346N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 90 0 0 64 15 18.9873 MYCBP2 0 genome.wustl.edu 37 13 77785411 77785411 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 13 77785411 77785411 G A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.3307 p.L1103F 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 167 0 0 186 34 15.4545 MIR382 0 genome.wustl.edu 37 14 101520685 101520685 + RNA SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 14 101520685 101520685 G T SNP MIR382 ENST00000385009 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR382 HGNC ENSG00000207742 72 0 0 48 21 30.4348 TEP1 0 genome.wustl.edu 37 14 20876371 20876371 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 14 20876371 20876371 G A SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known silent c.228 p.S76 1.000 pfam_TEP1_N pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 211 0 0 139 47 25.2688 FAM179B 0 genome.wustl.edu 37 14 45431744 45431744 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 14 45431744 45431744 C T SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known silent c.120 p.G40 0.384 NULL superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 64 0 0 40 7 14.8936 TRIM9 0 genome.wustl.edu 37 14 51561331 51561331 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 14 51561331 51561331 C T SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known silent c.327 p.P109 0.950 smart_Znf_RING pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 20 0 0 14 4 22.2222 ADAM20 0 genome.wustl.edu 37 14 70991149 70991149 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 14 70991149 70991149 C T SNP ADAM20 ENST00000256389 human ensembl 74_37 -1 known missense c.476 p.C159Y 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM20 HGNC ENSG00000134007 159 0 0 112 30 21.1268 HERC2P3 0 genome.wustl.edu 37 15 20588514 20588514 + RNA SNP C C A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 15 20588514 20588514 C A SNP HERC2P3 ENST00000428453 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 73 0 0 49 11 18.3333 UBE3A 0 genome.wustl.edu 37 15 25605639 25605639 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 15 25605639 25605639 C T SNP UBE3A ENST00000397954 human ensembl 74_37 -1 known silent c.1653 p.L551 1.000 superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT - no_errors UBE3A HGNC ENSG00000114062 102 0 0 76 6 7.31707 MYEF2 0 genome.wustl.edu 37 15 48451038 48451038 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 15 48451038 48451038 C T SNP MYEF2 ENST00000324324 human ensembl 74_37 -1 known missense c.799 p.D267N 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MYEF2 HGNC ENSG00000104177 246 0 0 199 66 24.9057 TRAF7 0 genome.wustl.edu 37 16 2226124 2226124 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 16 2226124 2226124 C T SNP TRAF7 ENST00000326181 human ensembl 74_37 +1 known silent c.1821 p.V607 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 48 0 0 32 6 15.7895 MAZ 0 genome.wustl.edu 37 16 29818144 29818144 + Missense_Mutation SNP C C G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 16 29818144 29818144 C G SNP MAZ ENST00000219782 human ensembl 74_37 +1 known missense c.122 p.P41R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 28 0 0 34 6 15 HERC2P4 0 genome.wustl.edu 37 16 32163569 32163569 + RNA SNP A A C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 16 32163569 32163569 A C SNP HERC2P4 ENST00000563904 human ensembl 74_37 -1 known rna NULL NULL 0.964 - - - no_errors HERC2P4 HGNC ENSG00000230267 34 0 0 36 3 7.69231 SLC6A10P 0 genome.wustl.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 16 32890622 32890622 T G SNP SLC6A10P ENST00000330048 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SLC6A10P HGNC ENSG00000214617 19 0 0 6 2 25 NAGPA 0 genome.wustl.edu 37 16 5077160 5077160 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 16 5077160 5077160 G A SNP NAGPA ENST00000312251 human ensembl 74_37 -1 known missense c.1316 p.A439V 0.000 NULL pfam_DUF2233,pfscan_EG-like_dom - no_errors NAGPA HGNC ENSG00000103174 75 0 0 43 25 36.7647 MVD 0 genome.wustl.edu 37 16 88722698 88722698 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 16 88722698 88722698 G A SNP MVD ENST00000301012 human ensembl 74_37 -1 known missense c.418 p.R140C 0.543 pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Mev_diP_decarb,tigrfam_Mev_diP_decarb pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Mev_diP_decarb,tigrfam_Mev_diP_decarb - no_errors MVD HGNC ENSG00000167508 120 0 0 77 16 17.2043 ZNF778 0 genome.wustl.edu 37 16 89294280 89294280 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 16 89294280 89294280 C T SNP ZNF778 ENST00000433976 human ensembl 74_37 +1 known silent c.1500 p.T500 0.995 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 ZNF778 HGNC ENSG00000170100 129 0 0 40 91 69.4656 SLFN12 0 genome.wustl.edu 37 17 33749495 33749495 + Missense_Mutation SNP A A T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 17 33749495 33749495 A T SNP SLFN12 ENST00000304905 human ensembl 74_37 -1 known missense c.553 p.F185I 0.066 NULL pfam_ATPase_AAA-4 - no_errors SLFN12 HGNC ENSG00000172123 195 0 0 734 49 6.25798 GAS2L2 0 genome.wustl.edu 37 17 34073428 34073428 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 17 34073428 34073428 C T SNP GAS2L2 ENST00000254466 human ensembl 74_37 -1 known missense c.1088 p.C363Y 0.999 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 131 0 0 332 26 7.26257 TAF15 0 genome.wustl.edu 37 17 34171858 34171858 + Nonsense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 17 34171858 34171858 C T SNP TAF15 ENST00000588240 human ensembl 74_37 +1 known nonsense c.1555 p.R519* 1.000 NULL pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors TAF15 HGNC ENSG00000172660 68 0 0 163 15 8.42697 STARD3 0 genome.wustl.edu 37 17 37815008 37815008 + Missense_Mutation SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 17 37815008 37815008 G T SNP STARD3 ENST00000336308 human ensembl 74_37 +1 known missense c.581 p.G194V 1.000 pfam_MENTAL pfam_MENTAL,pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,prints_StAR - no_errors STARD3 HGNC ENSG00000131748 242 0 0 144 378 72.4138 ERBB2 0 genome.wustl.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 17 37868208 37868208 C T SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.929 p.S310F 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 409 3 0.728155 231 5109 95.6742 HDAC5 0 genome.wustl.edu 37 17 42171083 42171083 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 17 42171083 42171083 G A SNP HDAC5 ENST00000225983 human ensembl 74_37 -1 known missense c.217 p.R73W 0.849 pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 11 0 0 11 8 42.1053 TBKBP1 0 genome.wustl.edu 37 17 45776813 45776813 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 17 45776813 45776813 C T SNP TBKBP1 ENST00000361722 human ensembl 74_37 +1 known silent c.762 p.C254 0.020 NULL NULL - no_errors TBKBP1 HGNC ENSG00000198933 19 0 0 21 4 16 PLEKHM1P 0 genome.wustl.edu 37 17 62801173 62801173 + RNA SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 17 62801173 62801173 G A SNP PLEKHM1P ENST00000578036 human ensembl 74_37 -1 known rna NULL NULL 0.891 - - - no_errors PLEKHM1P HGNC ENSG00000214176 92 0 0 219 14 6.00858 ABCA5 0 genome.wustl.edu 37 17 67280173 67280173 + Silent SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 17 67280173 67280173 G T SNP ABCA5 ENST00000392677 human ensembl 74_37 -1 known silent c.2313 p.V771 0.995 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 95 0 0 349 19 5.16304 GGA3 0 genome.wustl.edu 37 17 73235959 73235959 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 17 73235959 73235959 G A SNP GGA3 ENST00000245541 human ensembl 74_37 -1 known silent c.1494 p.P498 0.000 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC ENSG00000125447 52 0 0 220 12 5.17241 EVPL 0 genome.wustl.edu 37 17 74003189 74003189 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 17 74003189 74003189 G A SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.6097 p.R2033C 0.608 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 57 0 0 18 17 48.5714 POLR2A 0 genome.wustl.edu 37 17 7416391 7416391 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 17 7416391 7416391 G A SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known missense c.4808 p.R1603H 1.000 pfam_RNA_pol_II_repeat_euk pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 302 0 0 116 65 35.9116 TP53 0 genome.wustl.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 17 7578190 7578190 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.659 p.Y220C 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 60 0 0 5 27 84.375 THOC1 0 genome.wustl.edu 37 18 265478 265478 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 18 265478 265478 G A SNP THOC1 ENST00000261600 human ensembl 74_37 -1 known missense c.107 p.T36I 0.870 NULL pfam_THO_THOC1,pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain - no_errors THOC1 HGNC ENSG00000079134 33 0 0 17 7 29.1667 ASXL3 0 genome.wustl.edu 37 18 31324706 31324706 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 18 31324706 31324706 G A SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.4894 p.E1632K 0.784 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 73 0 0 32 12 27.2727 PIK3C3 0 genome.wustl.edu 37 18 39575919 39575919 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 18 39575919 39575919 C T SNP PIK3C3 ENST00000262039 human ensembl 74_37 +1 known silent c.852 p.H284 0.771 superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,pirsf_PI3K_Vps34 pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 88 0 0 41 18 30.5085 CASP14 0 genome.wustl.edu 37 19 15166303 15166303 + Missense_Mutation SNP T T A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 19 15166303 15166303 T A SNP CASP14 ENST00000221740 human ensembl 74_37 +1 known missense c.583 p.F195I 1.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP14 HGNC ENSG00000105141 93 0 0 64 45 41.2844 ZNF99 0 genome.wustl.edu 37 19 22940729 22940729 + Missense_Mutation SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 19 22940729 22940729 G T SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.1709 p.S570Y 0.000 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 ZNF99 HGNC ENSG00000213973 150 0 0 141 20 12.4224 PSG5 0 genome.wustl.edu 37 19 43680066 43680066 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 19 43680066 43680066 C T SNP PSG5 ENST00000342951 human ensembl 74_37 -1 known missense c.665 p.R222Q 0.002 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG5 HGNC ENSG00000204941 298 0 0 257 80 23.7389 GEMIN7 0 genome.wustl.edu 37 19 45593700 45593700 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 19 45593700 45593700 C T SNP GEMIN7 ENST00000270257 human ensembl 74_37 +1 known missense c.328 p.P110S 1.000 pfam_SMN_gemin7 pfam_SMN_gemin7 - no_errors GEMIN7 HGNC ENSG00000142252 120 0 0 131 37 22.0238 RTN2 0 genome.wustl.edu 37 19 45997638 45997638 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 19 45997638 45997638 G A SNP RTN2 ENST00000245923 human ensembl 74_37 -1 known silent c.600 p.P200 0.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 100 0 0 98 8 7.54717 CABP5 0 genome.wustl.edu 37 19 48543884 48543884 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 19 48543884 48543884 G A SNP CABP5 ENST00000293255 human ensembl 74_37 -1 known silent c.216 p.L72 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP5 HGNC ENSG00000105507 93 0 0 60 65 52 PRR12 0 genome.wustl.edu 37 19 50103130 50103130 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 19 50103130 50103130 C T SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel missense c.4280 p.A1427V 0.009 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 63 0 0 61 16 20.7792 C19orf48 0 genome.wustl.edu 37 19 51301810 51301810 + RNA SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 19 51301810 51301810 C T SNP C19orf48 ENST00000595794 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C19orf48 HGNC ENSG00000167747 16 0 0 10 5 33.3333 ZNF578 0 genome.wustl.edu 37 19 53015310 53015310 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 19 53015310 53015310 G A SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known missense c.1676 p.R559K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF578 HGNC ENSG00000258405 162 0 0 137 11 7.43243 LILRB3 0 genome.wustl.edu 37 19 54721287 54721287 + Missense_Mutation SNP A A T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 19 54721287 54721287 A T SNP LILRB3 ENST00000407860 human ensembl 74_37 -1 known missense c.1701 p.S567R 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB3 HGNC ENSG00000204577 81 0 0 53 37 41.1111 ZNF583 0 genome.wustl.edu 37 19 56925784 56925784 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 19 56925784 56925784 G A SNP ZNF583 ENST00000291598 human ensembl 74_37 +1 known silent c.207 p.K69 0.000 pfscan_Krueppel-associated_box 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 ZNF583 HGNC ENSG00000198440 147 0 0 86 59 40.6897 ZNF211 0 genome.wustl.edu 37 19 58152366 58152366 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 19 58152366 58152366 C T SNP ZNF211 ENST00000240731 human ensembl 74_37 +1 known missense c.551 p.S184L 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 ZNF211 HGNC ENSG00000121417 126 0 0 98 32 24.6154 TBC1D8 0 genome.wustl.edu 37 2 101654162 101654162 + Silent SNP G G C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 2 101654162 101654162 G C SNP TBC1D8 ENST00000409318 human ensembl 74_37 -1 known silent c.1284 p.L428 0.010 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8 HGNC ENSG00000204634 112 0 0 60 27 31.0345 SULT1C4 0 genome.wustl.edu 37 2 108999963 108999963 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 2 108999963 108999963 G A SNP SULT1C4 ENST00000272452 human ensembl 74_37 +1 known silent c.612 p.K204 0.998 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1C4 HGNC ENSG00000198075 96 0 0 57 18 24 BUB1 0 genome.wustl.edu 37 2 111399257 111399257 + Missense_Mutation SNP C C G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 2 111399257 111399257 C G SNP BUB1 ENST00000302759 human ensembl 74_37 -1 known missense c.2587 p.V863L 0.971 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_Mad3_BUB1_I,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors BUB1 HGNC ENSG00000169679 285 0 0 194 67 25.6705 GREB1 0 genome.wustl.edu 37 2 11720988 11720988 + Missense_Mutation SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 2 11720988 11720988 G T SNP GREB1 ENST00000389825 human ensembl 74_37 +1 putative missense c.601 p.D201Y 0.000 NULL NULL - no_errors GREB1 HGNC ENSG00000196208 58 0 0 32 12 27.2727 RAB3GAP1 0 genome.wustl.edu 37 2 135848643 135848643 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 2 135848643 135848643 C T SNP RAB3GAP1 ENST00000264158 human ensembl 74_37 +1 known missense c.226 p.H76Y 1.000 NULL NULL - no_errors RAB3GAP1 HGNC ENSG00000115839 199 0 0 152 57 27.2727 LCT 0 genome.wustl.edu 37 2 136575399 136575399 + Missense_Mutation SNP C C G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 2 136575399 136575399 C G SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.1219 p.G407R 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 163 0 0 99 31 23.8462 LRP1B 0 genome.wustl.edu 37 2 141459402 141459402 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 2 141459402 141459402 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.6315 p.N2105 0.969 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_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_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 187 0 0 81 78 49.0566 GPR155 0 genome.wustl.edu 37 2 175346609 175346609 + Missense_Mutation SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 2 175346609 175346609 G T SNP GPR155 ENST00000295500 human ensembl 74_37 -1 known missense c.76 p.H26N 0.465 NULL pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors GPR155 HGNC ENSG00000163328 223 0 0 213 46 17.7606 TTN 0 genome.wustl.edu 37 2 179456552 179456552 + Nonsense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 2 179456552 179456552 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.52290 p.W17430* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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 123 0 0 92 30 24.5902 TTN 0 genome.wustl.edu 37 2 179489303 179489303 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 2 179489303 179489303 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.37000 p.A12334T 1.000 pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 202 0 0 77 71 47.973 NCKAP1 0 genome.wustl.edu 37 2 183846105 183846105 + Splice_Site SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 2 183846105 183846105 C T SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known splice_site c.1227-1 e14-1 1.000 - - - no_errors NCKAP1 HGNC ENSG00000061676 56 0 0 39 3 7.14286 ITGAV 0 genome.wustl.edu 37 2 187490295 187490295 + Missense_Mutation SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 2 187490295 187490295 G T SNP ITGAV ENST00000261023 human ensembl 74_37 +1 known missense c.504 p.E168D 1.000 NULL 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 48 0 0 41 20 32.7869 OBSL1 0 genome.wustl.edu 37 2 220421289 220421289 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 2 220421289 220421289 G A SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.4223 p.A1408V 0.366 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 87 0 0 55 27 32.9268 HJURP 0 genome.wustl.edu 37 2 234750099 234750099 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 2 234750099 234750099 G A SNP HJURP ENST00000411486 human ensembl 74_37 -1 known missense c.1327 p.R443W 0.053 pfam_HJURP_C pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 166 0 0 135 39 22.4138 PLB1 0 genome.wustl.edu 37 2 28785965 28785965 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 2 28785965 28785965 C T SNP PLB1 ENST00000422425 human ensembl 74_37 +1 known missense c.1238 p.T413M 0.963 pfam_Lipase_GDSL pfam_Lipase_GDSL - no_errors PLB1 HGNC ENSG00000163803 96 0 0 63 31 32.9787 TSSC1 0 genome.wustl.edu 37 2 3196198 3196198 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 2 3196198 3196198 G A SNP TSSC1 ENST00000382125 human ensembl 74_37 -1 known missense c.976 p.R326C 0.993 NULL pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TSSC1 HGNC ENSG00000032389 74 0 0 44 20 31.25 SLC30A6 0 genome.wustl.edu 37 2 32399183 32399183 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 2 32399183 32399183 C T SNP SLC30A6 ENST00000282587 human ensembl 74_37 +1 known silent c.142 p.L48 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A6 HGNC ENSG00000152683 296 0 0 215 54 20.0743 FSHR 0 genome.wustl.edu 37 2 49195900 49195900 + Missense_Mutation SNP A A T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 2 49195900 49195900 A T SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.791 p.L264H 0.987 NULL pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 101 0 0 81 12 12.9032 REG1P 0 genome.wustl.edu 37 2 79364391 79364391 + RNA SNP A A T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 2 79364391 79364391 A T SNP REG1P ENST00000377435 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors REG1P HGNC ENSG00000204787 54 0 0 36 13 26.5306 NCAPH 0 genome.wustl.edu 37 2 97031660 97031660 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 2 97031660 97031660 C T SNP NCAPH ENST00000240423 human ensembl 74_37 +1 known missense c.1745 p.P582L 0.005 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 - no_errors NCAPH HGNC ENSG00000121152 422 0 0 313 89 22.1393 SYNDIG1 0 genome.wustl.edu 37 20 24524024 24524024 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 20 24524024 24524024 C T SNP SYNDIG1 ENST00000376862 human ensembl 74_37 +1 known silent c.291 p.G97 0.007 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1 HGNC ENSG00000101463 133 0 0 126 32 20.2532 AVP 0 genome.wustl.edu 37 20 3065299 3065299 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 20 3065299 3065299 C T SNP AVP ENST00000380293 human ensembl 74_37 -1 known missense c.22 p.A8T 0.977 pirsf_Neurhyp_horm pfam_Neurhyp_horm,superfamily_Neurhyp_horm,smart_Neurhyp_horm,pirsf_Neurhyp_horm,prints_Neurhyp_horm - no_errors AVP HGNC ENSG00000101200 245 1 0.406504 151 111 42.3664 EMILIN3 0 genome.wustl.edu 37 20 39992409 39992409 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 20 39992409 39992409 C T SNP EMILIN3 ENST00000332312 human ensembl 74_37 -1 known missense c.383 p.R128H 1.000 pfscan_EMI_domain pfam_EMI_domain,pfscan_EMI_domain - no_errors EMILIN3 HGNC ENSG00000183798 143 0 0 162 11 6.35838 PI3 0 genome.wustl.edu 37 20 43804672 43804672 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 20 43804672 43804672 G A SNP PI3 ENST00000243924 human ensembl 74_37 +1 known missense c.250 p.A84T 0.001 pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core pfam_Trappin_transglut-bd_rpt,pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core - no_errors PI3 HGNC ENSG00000124102 148 0 0 120 43 26.3804 CHGB 0 genome.wustl.edu 37 20 5905665 5905665 + Missense_Mutation SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 20 5905665 5905665 G T SNP CHGB ENST00000378961 human ensembl 74_37 +1 known missense c.2004 p.K668N 0.995 pfam_Granin,prints_Chromogranin_AB pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 64 0 0 60 8 11.7647 GATA5 0 genome.wustl.edu 37 20 61040939 61040939 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 20 61040939 61040939 C T SNP GATA5 ENST00000252997 human ensembl 74_37 -1 known silent c.864 p.Q288 1.000 pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA5 HGNC ENSG00000130700 9 0 0 12 3 20 FAM110A 0 genome.wustl.edu 37 20 826057 826057 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 20 826057 826057 C T SNP FAM110A ENST00000246100 human ensembl 74_37 +1 known missense c.610 p.R204C 1.000 NULL NULL - no_errors FAM110A HGNC ENSG00000125898 37 0 0 20 5 20 KRTAP10-9 0 genome.wustl.edu 37 21 46047148 46047148 + Missense_Mutation SNP C C G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 21 46047148 46047148 C G SNP KRTAP10-9 ENST00000397911 human ensembl 74_37 +1 known missense c.60 p.D20E 0.995 NULL NULL - no_errors KRTAP10-9 HGNC ENSG00000221837 79 0 0 32 13 28.8889 MICAL3 0 genome.wustl.edu 37 22 18363991 18363991 + Missense_Mutation SNP G G C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 22 18363991 18363991 G C SNP MICAL3 ENST00000429452 human ensembl 74_37 -1 known missense c.2320 p.R774G 0.997 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 145 0 0 133 15 10.1351 FBLN1 0 genome.wustl.edu 37 22 45914594 45914594 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 22 45914594 45914594 G A SNP FBLN1 ENST00000327858 human ensembl 74_37 +1 known missense c.112 p.A38T 0.916 pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 21 0 0 10 5 33.3333 ATP2B2 0 genome.wustl.edu 37 3 10400407 10400407 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 3 10400407 10400407 C T SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.2104 p.V702M 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma 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 80 0 0 29 13 30.9524 MYH15 0 genome.wustl.edu 37 3 108107879 108107879 + Missense_Mutation SNP T T C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 3 108107879 108107879 T C SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known missense c.5533 p.S1845G 0.116 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 148 0 0 117 8 6.4 SIAH2 0 genome.wustl.edu 37 3 150480301 150480301 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 3 150480301 150480301 C T SNP SIAH2 ENST00000312960 human ensembl 74_37 -1 known silent c.336 p.P112 0.996 pfscan_Znf_RING pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH2 HGNC ENSG00000181788 36 0 0 23 10 30.303 PEX5L 0 genome.wustl.edu 37 3 179525543 179525543 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 3 179525543 179525543 G A SNP PEX5L ENST00000467460 human ensembl 74_37 -1 known missense c.1595 p.T532M 0.999 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 329 0 0 205 85 29.3103 CCDC39 0 genome.wustl.edu 37 3 180359946 180359946 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 3 180359946 180359946 C T SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known missense c.1709 p.R570H 0.978 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 94 0 0 68 18 20.9302 CCDC13 0 genome.wustl.edu 37 3 42794186 42794186 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 3 42794186 42794186 C T SNP CCDC13 ENST00000310232 human ensembl 74_37 -1 known missense c.394 p.V132M 0.001 NULL superfamily_Prefoldin - no_errors CCDC13 HGNC ENSG00000244607 129 0 0 34 23 40.3509 XCR1 0 genome.wustl.edu 37 3 46062453 46062453 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 3 46062453 46062453 G A SNP XCR1 ENST00000309285 human ensembl 74_37 -1 known silent c.987 p.G329 0.002 prints_Chemokine_XCR1 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 26 0 0 10 6 37.5 DNAH1 0 genome.wustl.edu 37 3 52420183 52420183 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 3 52420183 52420183 C T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.8633 p.T2878M 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 43 0 0 18 6 25 MTMR14 0 genome.wustl.edu 37 3 9704013 9704013 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 3 9704013 9704013 G A SNP MTMR14 ENST00000296003 human ensembl 74_37 +1 known missense c.371 p.R124Q 1.000 NULL NULL - no_errors MTMR14 HGNC ENSG00000163719 90 0 0 34 43 55.8442 FAT4 0 genome.wustl.edu 37 4 126411278 126411278 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 4 126411278 126411278 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.13301 p.P4434L 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 189 0 0 71 36 33.6449 PLK4 0 genome.wustl.edu 37 4 128807158 128807158 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 4 128807158 128807158 C T SNP PLK4 ENST00000270861 human ensembl 74_37 +1 known silent c.633 p.F211 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_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK4 HGNC ENSG00000142731 247 0 0 121 70 36.6492 SLIT2 0 genome.wustl.edu 37 4 20525651 20525651 + Missense_Mutation SNP A A C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 4 20525651 20525651 A C SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.1289 p.N430T 1.000 smart_Cys-rich_flank_reg_C 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 224 0 0 145 69 32.243 FRYL 0 genome.wustl.edu 37 4 48578238 48578238 + Missense_Mutation SNP T T A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 4 48578238 48578238 T A SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.2530 p.S844C 1.000 NULL superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 102 0 0 85 31 26.7241 STPG2 0 genome.wustl.edu 37 4 98633896 98633896 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 4 98633896 98633896 C T SNP STPG2 ENST00000295268 human ensembl 74_37 -1 known missense c.1274 p.R425H 1.000 NULL NULL - no_errors STPG2 HGNC ENSG00000163116 86 0 0 50 18 26.4706 SLC2A9 0 genome.wustl.edu 37 4 9922112 9922112 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 4 9922112 9922112 C T SNP SLC2A9 ENST00000264784 human ensembl 74_37 -1 known missense c.899 p.R300H 0.020 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,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A9 HGNC ENSG00000109667 80 0 0 47 7 12.963 PCDHA2 0 genome.wustl.edu 37 5 140175691 140175691 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 5 140175691 140175691 C T SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known missense c.1142 p.T381M 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 148 0 0 30 136 81.9277 BASP1 0 genome.wustl.edu 37 5 17275368 17275368 + Missense_Mutation SNP A A T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 5 17275368 17275368 A T SNP BASP1 ENST00000322611 human ensembl 74_37 +1 known missense c.43 p.N15Y 1.000 pfam_BASP1 pfam_BASP1 - no_errors BASP1 HGNC ENSG00000176788 62 0 0 61 13 17.5676 GHR 0 genome.wustl.edu 37 5 42629152 42629152 + Missense_Mutation SNP T T A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 5 42629152 42629152 T A SNP GHR ENST00000230882 human ensembl 74_37 +1 known missense c.83 p.I28N 0.024 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 139 0 0 65 41 38.6792 SEMA5A 0 genome.wustl.edu 37 5 9227046 9227046 + Missense_Mutation SNP C C A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 5 9227046 9227046 C A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.367 p.V123L 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 100 0 0 119 23 16.1972 PCSK1 0 genome.wustl.edu 37 5 95748060 95748060 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 5 95748060 95748060 G A SNP PCSK1 ENST00000311106 human ensembl 74_37 -1 known missense c.844 p.R282W 0.918 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 164 0 0 102 44 30.137 LNPEP 0 genome.wustl.edu 37 5 96320901 96320901 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 5 96320901 96320901 C T SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known silent c.978 p.T326 0.668 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 265 0 0 184 82 30.8271 SLC22A1 0 genome.wustl.edu 37 6 160543066 160543066 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 6 160543066 160543066 G A SNP SLC22A1 ENST00000366963 human ensembl 74_37 +1 known silent c.99 p.A33 1.000 tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A1 HGNC ENSG00000175003 204 0 0 142 43 23.2432 MLLT4-AS1 0 genome.wustl.edu 37 6 168226811 168226811 + RNA SNP T T C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 6 168226811 168226811 T C SNP MLLT4-AS1 ENST00000359760 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MLLT4-AS1 HGNC ENSG00000198221 136 0 0 152 8 5 SMOC2 0 genome.wustl.edu 37 6 169051367 169051367 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 6 169051367 169051367 C T SNP SMOC2 ENST00000354536 human ensembl 74_37 +1 known missense c.947 p.P316L 1.000 pfam_SPARC/Testican_Ca-bd-dom pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 46 0 0 35 26 42.623 DEK 0 genome.wustl.edu 37 6 18256032 18256032 + Missense_Mutation SNP C C G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 6 18256032 18256032 C G SNP DEK ENST00000397239 human ensembl 74_37 -1 known missense c.503 p.R168T 1.000 pfam_SAP_dom,smart_SAP_dom pfam_DEK_C,pfam_SAP_dom,smart_SAP_dom - no_errors DEK HGNC ENSG00000124795 159 1 0.625 99 42 29.7872 NKAPL 0 genome.wustl.edu 37 6 28227362 28227362 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 6 28227362 28227362 G A SNP NKAPL ENST00000343684 human ensembl 74_37 +1 known silent c.213 p.S71 0.000 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 103 0 0 39 64 62.1359 TNXB 0 genome.wustl.edu 37 6 32029299 32029299 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 6 32029299 32029299 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.7367 p.R2456H 0.935 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 70 0 0 54 18 25 C6orf1 0 genome.wustl.edu 37 6 34214426 34214426 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 6 34214426 34214426 G A SNP C6orf1 ENST00000394990 human ensembl 74_37 -1 known silent c.345 p.A115 0.000 NULL NULL - no_errors C6orf1 HGNC ENSG00000186577 54 0 0 32 9 21.9512 TULP1 0 genome.wustl.edu 37 6 35466196 35466196 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 6 35466196 35466196 C T SNP TULP1 ENST00000229771 human ensembl 74_37 -1 known missense c.1537 p.A513T 1.000 pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C - no_errors TULP1 HGNC ENSG00000112041 35 0 0 22 7 24.1379 DEFB110 0 genome.wustl.edu 37 6 49976943 49976943 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 6 49976943 49976943 C T SNP DEFB110 ENST00000393660 human ensembl 74_37 -1 known missense c.97 p.E33K 0.000 NULL NULL - no_errors DEFB110 HGNC ENSG00000203970 145 0 0 128 8 5.88235 BAI3 0 genome.wustl.edu 37 6 69772895 69772895 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 6 69772895 69772895 G A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known silent c.2403 p.S801 0.349 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 128 0 0 115 48 29.4479 SLC12A9 0 genome.wustl.edu 37 7 100454554 100454554 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 7 100454554 100454554 C T SNP SLC12A9 ENST00000354161 human ensembl 74_37 +1 known silent c.513 p.G171 0.930 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC12A9 HGNC ENSG00000146828 119 0 0 57 24 29.6296 DOCK4 0 genome.wustl.edu 37 7 111386415 111386415 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 7 111386415 111386415 C T SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.4652 p.R1551Q 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 46 0 0 25 12 32.4324 LSMEM1 0 genome.wustl.edu 37 7 112129968 112129968 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 7 112129968 112129968 C T SNP LSMEM1 ENST00000312849 human ensembl 74_37 +1 known silent c.360 p.L120 0.800 NULL NULL - no_errors LSMEM1 HGNC ENSG00000181016 263 1 0.378788 163 57 25.9091 AGMO 0 genome.wustl.edu 37 7 15425182 15425182 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 7 15425182 15425182 G A SNP AGMO ENST00000342526 human ensembl 74_37 -1 known silent c.963 p.T321 0.142 NULL pfam_Fatty_acid_hydroxylase - no_errors AGMO HGNC ENSG00000187546 143 0 0 122 38 23.75 GGCT 0 genome.wustl.edu 37 7 30544315 30544315 + Nonsense_Mutation SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 7 30544315 30544315 G T SNP GGCT ENST00000275428 human ensembl 74_37 -1 known nonsense c.11 p.S4* 0.006 NULL pfam_AIG2-like - no_errors GGCT HGNC ENSG00000006625 142 0 0 120 40 25 STAG3L4 0 genome.wustl.edu 37 7 66774084 66774084 + RNA SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 7 66774084 66774084 G T SNP STAG3L4 ENST00000416602 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors STAG3L4 HGNC ENSG00000106610 135 0 0 87 37 29.8387 LAT2 0 genome.wustl.edu 37 7 73638356 73638356 + Nonsense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 7 73638356 73638356 C T SNP LAT2 ENST00000275635 human ensembl 74_37 +1 known nonsense c.457 p.Q153* 0.187 NULL NULL - no_errors LAT2 HGNC ENSG00000086730 54 0 0 26 9 25.7143 UPK3B 0 genome.wustl.edu 37 7 76140158 76140158 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 7 76140158 76140158 G A SNP UPK3B ENST00000257632 human ensembl 74_37 +1 known silent c.189 p.E63 0.058 NULL NULL - no_errors UPK3B HGNC ENSG00000243566 12 0 0 5 7 58.3333 TECPR1 0 genome.wustl.edu 37 7 97860371 97860371 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 7 97860371 97860371 C T SNP TECPR1 ENST00000379795 human ensembl 74_37 -1 known silent c.2187 p.P729 0.284 smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 19 0 0 10 11 52.381 TRRAP 0 genome.wustl.edu 37 7 98586497 98586497 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 7 98586497 98586497 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.9511 p.R3171W 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 77 0 0 44 23 34.3284 CSMD3 0 genome.wustl.edu 37 8 114031299 114031299 + Missense_Mutation SNP G G C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 8 114031299 114031299 G C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.1027 p.Q343E 1.000 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 223 0 0 133 153 53.4965 C8orf22 0 genome.wustl.edu 37 8 49985432 49985432 + Missense_Mutation SNP C C A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 8 49985432 49985432 C A SNP C8orf22 ENST00000303202 human ensembl 74_37 +1 known missense c.43 p.Q15K 1.000 NULL NULL - no_errors C8orf22 HGNC ENSG00000168333 191 0 0 160 37 18.7817 KCNB2 0 genome.wustl.edu 37 8 73849466 73849466 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 8 73849466 73849466 G A SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.1876 p.A626T 0.004 pfam_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv2.2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 171 0 0 107 88 45.1282 WWP1 0 genome.wustl.edu 37 8 87470223 87470223 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 8 87470223 87470223 G A SNP WWP1 ENST00000265428 human ensembl 74_37 +1 known missense c.2468 p.R823K 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors WWP1 HGNC ENSG00000123124 170 0 0 203 13 6.01852 CNGB3 0 genome.wustl.edu 37 8 87656093 87656093 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 8 87656093 87656093 C T SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.1064 p.R355Q 1.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 172 0 0 154 45 22.6131 PHF19 0 genome.wustl.edu 37 9 123624899 123624899 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 9 123624899 123624899 G A SNP PHF19 ENST00000373896 human ensembl 74_37 -1 known missense c.1097 p.S366F 0.478 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD - no_errors PHF19 HGNC ENSG00000119403 257 0 0 246 18 6.81818 OR1N2 0 genome.wustl.edu 37 9 125315995 125315995 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 9 125315995 125315995 G A SNP OR1N2 ENST00000373688 human ensembl 74_37 +1 known missense c.547 p.V183M 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1N2 HGNC ENSG00000171501 209 0 0 102 102 50 MLLT3 0 genome.wustl.edu 37 9 20413763 20413763 + Missense_Mutation SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 9 20413763 20413763 G T SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known missense c.1081 p.P361T 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 166 0 0 32 75 70.0935 INSL6 0 genome.wustl.edu 37 9 5185416 5185416 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 9 5185416 5185416 G A SNP INSL6 ENST00000381641 human ensembl 74_37 -1 known missense c.187 p.R63W 0.001 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,pirsf_Insulin-like_pep_6 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,pirsf_Insulin-like_pep_6 - no_errors INSL6 HGNC ENSG00000120210 222 0 0 46 132 74.1573 SPATA31E1 0 genome.wustl.edu 37 9 90500615 90500615 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 9 90500615 90500615 C T SNP SPATA31E1 ENST00000325643 human ensembl 74_37 +1 known missense c.1213 p.P405S 0.000 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 124 0 0 71 29 29 TRPC5 0 genome.wustl.edu 37 X 111078194 111078194 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed X 111078194 111078194 C T SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known silent c.1851 p.L617 1.000 pfam_Ion_trans_dom,prints_TRPC_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 628 0 0 577 137 19.1877 HCCS 0 genome.wustl.edu 37 X 11136637 11136637 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed X 11136637 11136637 G A SNP HCCS ENST00000321143 human ensembl 74_37 +1 known missense c.418 p.E140K 1.000 pfam_Cyt_C/C1_haem_lyase pfam_Cyt_C/C1_haem_lyase - no_errors HCCS HGNC ENSG00000004961 206 0 0 232 46 16.5468 MAGEC1 0 genome.wustl.edu 37 X 140995050 140995050 + Missense_Mutation SNP A A T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed X 140995050 140995050 A T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.1860 p.E620D 0.327 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 728 0 0 661 187 22.0519 SLITRK4 0 genome.wustl.edu 37 X 142718454 142718454 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed X 142718454 142718454 C T SNP SLITRK4 ENST00000338017 human ensembl 74_37 -1 known silent c.471 p.L157 0.998 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC ENSG00000179542 324 0 0 284 61 17.6812 AFF2 0 genome.wustl.edu 37 X 148037715 148037715 + Missense_Mutation SNP G G C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed X 148037715 148037715 G C SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.2140 p.D714H 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 276 0 0 177 122 40.8027 MAMLD1 0 genome.wustl.edu 37 X 149641985 149641985 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed X 149641985 149641985 G A SNP MAMLD1 ENST00000262858 human ensembl 74_37 +1 known missense c.1951 p.A651T 0.991 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 186 1 0.534759 205 61 22.9323 MAGEA1 0 genome.wustl.edu 37 X 152482314 152482314 + Missense_Mutation SNP C C A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed X 152482314 152482314 C A SNP MAGEA1 ENST00000356661 human ensembl 74_37 -1 known missense c.697 p.G233W 0.012 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA1 HGNC ENSG00000198681 250 1 0.398406 231 71 23.5099 TMLHE 0 genome.wustl.edu 37 X 154743754 154743754 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed X 154743754 154743754 C T SNP TMLHE ENST00000334398 human ensembl 74_37 -1 known silent c.531 p.L177 1.000 pfam_Taurine_dOase,tigrfam_Trimethyllysine_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase - no_errors TMLHE HGNC ENSG00000185973 326 0 0 352 26 6.87831 MAGEB6 0 genome.wustl.edu 37 X 26212461 26212461 + Silent SNP T T C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed X 26212461 26212461 T C SNP MAGEB6 ENST00000379034 human ensembl 74_37 +1 known silent c.498 p.Y166 0.002 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 102 0 0 74 18 19.5652 FTSJ1 0 genome.wustl.edu 37 X 48341277 48341277 + RNA SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed X 48341277 48341277 C T SNP FTSJ1 ENST00000466371 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors FTSJ1 HGNC ENSG00000068438 94 0 0 69 18 20.6897 PORCN 0 genome.wustl.edu 37 X 48372643 48372643 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed X 48372643 48372643 C T SNP PORCN ENST00000326194 human ensembl 74_37 +1 known silent c.735 p.Y245 0.952 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors PORCN HGNC ENSG00000102312 134 0 0 112 63 36 GATA1 0 genome.wustl.edu 37 X 48652490 48652490 + Silent SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed X 48652490 48652490 G T SNP GATA1 ENST00000376670 human ensembl 74_37 +1 known silent c.1161 p.L387 0.983 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA1 HGNC ENSG00000102145 48 0 0 39 22 36.0656 PHF8 0 genome.wustl.edu 37 X 54043133 54043133 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed X 54043133 54043133 C T SNP PHF8 ENST00000357988 human ensembl 74_37 -1 known missense c.599 p.R200H 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC ENSG00000172943 169 0 0 105 100 48.7805 MIR545 0 genome.wustl.edu 37 X 73507007 73507007 + RNA SNP T T G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed X 73507007 73507007 T G SNP MIR545 ENST00000385085 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR545 HGNC ENSG00000207820 106 0 0 81 27 25 RGS21 0 genome.wustl.edu 37 1 192335230 192335231 + Frame_Shift_Ins INS - - A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 1 192335230 192335231 - A INS RGS21 ENST00000417209 human ensembl 74_37 +1 known frame_shift_ins c.435_436 p.W147fs 0.730:0.976 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS21 HGNC ENSG00000253148 109 0 0 106 12 10.1695 OR51B6 0 genome.wustl.edu 37 11 5373309 5373309 + Frame_Shift_Del DEL C C - TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 11 5373309 5373309 C - DEL OR51B6 ENST00000380219 human ensembl 74_37 +1 known frame_shift_del c.572 p.F192fs 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR51B6 HGNC ENSG00000176239 201 0 0 102 29 22.1374 ZKSCAN7 0 genome.wustl.edu 37 3 44611508 44611509 + Frame_Shift_Ins INS - - G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 3 44611508 44611509 - G INS ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known frame_shift_ins c.906_907 p.V303fs 0.000:0.000 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 ZKSCAN7 HGNC ENSG00000196345 250 0 0 117 52 30.7692 CNTN3 0 genome.wustl.edu 37 3 74334622 74334623 + Frame_Shift_Ins INS - - C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 3 74334622 74334623 - C INS CNTN3 ENST00000263665 human ensembl 74_37 -1 known frame_shift_ins c.2538_2537 p.G847fs 0.109:0.365 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 275 0 0 143 20 12.2699 GPR151 0 genome.wustl.edu 37 5 145894703 145894705 + In_Frame_Del DEL ATC ATC - TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 ATC ATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 5 145894703 145894705 ATC - DEL GPR151 ENST00000311104 human ensembl 74_37 -1 known in_frame_del c.974_972 p.M324in_frame_del 1.000:1.000:1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR151 HGNC ENSG00000173250 82 0 0 44 27 38.0282 LAMB1 0 genome.wustl.edu 37 7 107594141 107594141 + Frame_Shift_Del DEL C C - TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed 7 107594141 107594141 C - DEL LAMB1 ENST00000222399 human ensembl 74_37 -1 known frame_shift_del c.2913 p.S972fs 0.002 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 164 0 0 115 34 22.8188 CNKSR2 0 genome.wustl.edu 37 X 21609255 21609256 + Frame_Shift_Ins INS - - A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed X 21609255 21609256 - A INS CNKSR2 ENST00000379510 human ensembl 74_37 +1 known frame_shift_ins c.1773_1774 p.Y593fs 1.000:1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 267 0 0 305 50 14.0845