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 ABHD2 11057 genome.wustl.edu 37 15 89731451 89731451 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 15 89731451 89731451 G A SNP ABHD2 ENST00000352732 human ensembl 70_37 +1 known silent c.843 p.K281 1.000 pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD2 HGNC AFAP1L2 84632 genome.wustl.edu 37 10 116060344 116060344 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 10 116060344 116060344 G A SNP AFAP1L2 ENST00000545353 human ensembl 70_37 -1 known missense c.1807 p.P603S 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L2 HGNC AKR1C4 1109 genome.wustl.edu 37 10 5248280 5248280 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 10 5248280 5248280 G A SNP AKR1C4 ENST00000263126 human ensembl 70_37 +1 known missense c.490 p.G164R 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C4 HGNC AP3B1 8546 genome.wustl.edu 37 5 77471612 77471612 + Frame_Shift_Del DEL C C - TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 5 77471612 77471612 C - DEL AP3B1 ENST00000255194 human ensembl 70_37 -1 known frame_shift_del c.1091 p.R364fs 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ARHGAP35 2909 genome.wustl.edu 37 19 47423319 47423319 + Missense_Mutation SNP G G T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 19 47423319 47423319 G T SNP ARHGAP35 ENST00000404338 human ensembl 70_37 +1 known missense c.1387 p.D463Y 1.000 superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ATP6AP1L 92270 genome.wustl.edu 37 5 81613843 81613843 + Silent SNP A A C TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 5 81613843 81613843 A C SNP ATP6AP1L ENST00000380167 human ensembl 70_37 +1 known silent c.399 p.G133 0.000 NULL NULL - no_errors ATP6AP1L HGNC BBX 56987 genome.wustl.edu 37 3 107466855 107466855 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 3 107466855 107466855 G A SNP BBX ENST00000325805 human ensembl 70_37 +1 known missense c.794 p.C265Y 1.000 pfam_TF_HMG_box_BBX_DUF2028 pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors BBX HGNC BSN 8927 genome.wustl.edu 37 3 49698698 49698698 + Silent SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 3 49698698 49698698 C T SNP BSN ENST00000296452 human ensembl 70_37 +1 known silent c.9420 p.A3140 0.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC C1orf106 55765 genome.wustl.edu 37 1 200860773 200860773 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 200860773 200860773 G A SNP C1orf106 ENST00000367342 human ensembl 70_37 +1 known silent c.105 p.A35 0.001 NULL pfam_DUF3338 - no_errors C1orf106 HGNC C1orf43 25912 genome.wustl.edu 37 1 154186400 154186400 + Silent SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 154186400 154186400 C T SNP C1orf43 ENST00000368521 human ensembl 70_37 -1 known silent c.309 p.R103 0.997 pfam_NICE-3_prd pfam_NICE-3_prd - no_errors C1orf43 HGNC C1orf94 84970 genome.wustl.edu 37 1 34663356 34663356 + Missense_Mutation SNP C C A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 34663356 34663356 C A SNP C1orf94 ENST00000488417 human ensembl 70_37 +1 known missense c.851 p.T284K 0.001 NULL NULL - no_errors C1orf94 HGNC C3 718 genome.wustl.edu 37 19 6707526 6707526 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 19 6707526 6707526 G A SNP C3 ENST00000245907 human ensembl 70_37 -1 known silent c.1998 p.A666 0.000 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC C3orf20 84077 genome.wustl.edu 37 3 14744739 14744739 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 3 14744739 14744739 G A SNP C3orf20 ENST00000253697 human ensembl 70_37 +1 known missense c.848 p.R283Q 1.000 NULL NULL - no_errors C3orf20 HGNC CACNA1F 778 genome.wustl.edu 37 X 49066140 49066140 + Missense_Mutation SNP T T A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 X 49066140 49066140 T A SNP CACNA1F ENST00000376265 human ensembl 70_37 -1 known missense c.4803 p.E1601D 1.000 pfam_VDCC_a1su_IQ pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC CAGE1 285782 genome.wustl.edu 37 6 7373452 7373452 + Nonsense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 6 7373452 7373452 G A SNP CAGE1 ENST00000338150 human ensembl 70_37 -1 known nonsense c.1600 p.Q534* 0.788 NULL NULL - no_errors CAGE1 HGNC CALCOCO1 57658 genome.wustl.edu 37 12 54115347 54115347 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 12 54115347 54115347 C T SNP CALCOCO1 ENST00000550804 human ensembl 70_37 -1 known missense c.662 p.R221Q 0.934 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO1 HGNC CAMSAP1 157922 genome.wustl.edu 37 9 138742205 138742205 + Missense_Mutation SNP G G T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 9 138742205 138742205 G T SNP CAMSAP1 ENST00000409386 human ensembl 70_37 -1 known missense c.944 p.T315N 1.000 pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC CCNF 899 genome.wustl.edu 37 16 2499399 2499399 + Silent SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 16 2499399 2499399 C T SNP CCNF ENST00000397066 human ensembl 70_37 +1 known silent c.1335 p.S445 0.000 pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors CCNF HGNC CDHR1 92211 genome.wustl.edu 37 10 85974456 85974456 + RNA SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 10 85974456 85974456 C T SNP CDHR1 ENST00000459673 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors CDHR1 HGNC CDK12 51755 genome.wustl.edu 37 17 37667867 37667867 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 17 37667867 37667867 G A SNP CDK12 ENST00000447079 human ensembl 70_37 +1 known missense c.2752 p.D918N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK12 HGNC CENPV 201161 genome.wustl.edu 37 17 16246152 16246152 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 17 16246152 16246152 G A SNP CENPV ENST00000299736 human ensembl 70_37 -1 known silent c.798 p.I266 1.000 NULL pfam_GFA/CENP-V,superfamily_Mss4-like - no_errors CENPV HGNC CHAT 1103 genome.wustl.edu 37 10 50854596 50854596 + Missense_Mutation SNP G G T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 10 50854596 50854596 G T SNP CHAT ENST00000337653 human ensembl 70_37 +1 known missense c.1157 p.C386F 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC CHST5 23563 genome.wustl.edu 37 16 75563856 75563856 + Missense_Mutation SNP A A G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 16 75563856 75563856 A G SNP CHST5 ENST00000541075 human ensembl 70_37 -1 known missense c.445 p.F149L 1.000 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC CIRBP 1153 genome.wustl.edu 37 19 1271030 1271030 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 19 1271030 1271030 C T SNP CIRBP ENST00000585914 human ensembl 70_37 +1 known missense c.98 p.S33F 0.899 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors CIRBP HGNC CLSTN1 22883 genome.wustl.edu 37 1 9796007 9796007 + Missense_Mutation SNP C C G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 9796007 9796007 C G SNP CLSTN1 ENST00000377298 human ensembl 70_37 -1 known missense c.1670 p.C557S 1.000 superfamily_ConA-like_lec_gl_sf pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC COL11A1 1301 genome.wustl.edu 37 1 103474021 103474021 + Nonsense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 103474021 103474021 G A SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known nonsense c.1717 p.Q573* 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC COL27A1 85301 genome.wustl.edu 37 9 117002739 117002739 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 9 117002739 117002739 C T SNP COL27A1 ENST00000356083 human ensembl 70_37 +1 known missense c.2807 p.P936L 0.997 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC COL5A2 1290 genome.wustl.edu 37 2 189927592 189927592 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 2 189927592 189927592 G A SNP COL5A2 ENST00000374866 human ensembl 70_37 -1 known missense c.1976 p.P659L 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC COL5A2 1290 genome.wustl.edu 37 2 189927992 189927992 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 2 189927992 189927992 G A SNP COL5A2 ENST00000374866 human ensembl 70_37 -1 known missense c.1775 p.A592V 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC COLEC12 81035 genome.wustl.edu 37 18 346444 346444 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 18 346444 346444 C T SNP COLEC12 ENST00000400256 human ensembl 70_37 -1 known missense c.1178 p.R393H 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC CORIN 10699 genome.wustl.edu 37 4 47644044 47644044 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 4 47644044 47644044 G A SNP CORIN ENST00000273857 human ensembl 70_37 -1 known silent c.2091 p.N697 0.999 superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pirsf_Peptidase_S1A_corin pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CORIN HGNC DISP2 85455 genome.wustl.edu 37 15 40659419 40659419 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 15 40659419 40659419 G A SNP DISP2 ENST00000267889 human ensembl 70_37 +1 known missense c.1106 p.R369Q 0.970 NULL pfscan_SSD - no_errors DISP2 HGNC DMKN 93099 genome.wustl.edu 37 19 35991428 35991428 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 19 35991428 35991428 G A SNP DMKN ENST00000482321 human ensembl 70_37 -1 novel missense c.382 p.L128F 0.023 NULL NULL - no_errors DMKN HGNC DSCAML1 57453 genome.wustl.edu 37 11 117329618 117329618 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 11 117329618 117329618 G A SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known silent c.3600 p.G1200 0.902 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_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000211459 0 genome.wustl.edu 37 MT 1479 1479 + RNA SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 MT 1479 1479 C T SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000227050 0 genome.wustl.edu 37 1 28285385 28285385 + RNA SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 28285385 28285385 C T SNP ENSG00000227050 ENST00000448015 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-460I13.2 Clone_based_vega_gene ENSG00000228748 0 genome.wustl.edu 37 10 79551667 79551667 + RNA SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 10 79551667 79551667 G A SNP ENSG00000228748 ENST00000434097 human ensembl 70_37 +1 known rna NULL NULL 0.064 - - - no_errors RP13-39P12.3 Clone_based_vega_gene ENSG00000230615 0 genome.wustl.edu 37 1 44569210 44569210 + RNA SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 44569210 44569210 G A SNP ENSG00000230615 ENST00000434244 human ensembl 70_37 +1 known rna NULL NULL 0.650 - - - no_errors RP5-1198O20.4 Clone_based_vega_gene ENSG00000232043 0 genome.wustl.edu 37 20 49190965 49190965 + RNA SNP C C A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 20 49190965 49190965 C A SNP ENSG00000232043 ENST00000431019 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP4-530I15.9 Clone_based_vega_gene ENSG00000248710 0 genome.wustl.edu 37 3 159986236 159986236 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 3 159986236 159986236 C T SNP ENSG00000248710 ENST00000483754 human ensembl 70_37 -1 known missense c.2701 p.E901K 1.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TRIM59 Uniprot_genename ENTHD2 146705 genome.wustl.edu 37 17 79205719 79205719 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 17 79205719 79205719 G A SNP ENTHD2 ENST00000300714 human ensembl 70_37 -1 known missense c.629 p.S210L 0.992 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS - no_errors ENTHD2 HGNC EP300 2033 genome.wustl.edu 37 22 41537115 41537115 + Nonsense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 22 41537115 41537115 C T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.1942 p.R648* 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC EXTL1 2134 genome.wustl.edu 37 1 26357957 26357957 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 26357957 26357957 G A SNP EXTL1 ENST00000374280 human ensembl 70_37 +1 known missense c.1241 p.R414H 0.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL1 HGNC FBXW7 55294 genome.wustl.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 4 153249385 153249385 G A SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1393 p.R465C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC FKBP10 60681 genome.wustl.edu 37 17 39974356 39974356 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 17 39974356 39974356 C T SNP FKBP10 ENST00000321562 human ensembl 70_37 +1 known missense c.407 p.P136L 0.999 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC GAB3 139716 genome.wustl.edu 37 X 153906377 153906378 + RNA INS - - A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 X 153906377 153906378 - A INS GAB3 ENST00000496390 human ensembl 70_37 -1 known rna NULL NULL 0.004:0.006 - - - no_errors GAB3 HGNC GFPT2 9945 genome.wustl.edu 37 5 179751886 179751886 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 5 179751886 179751886 G A SNP GFPT2 ENST00000253778 human ensembl 70_37 -1 known silent c.606 p.S202 1.000 pfam_GATase_dom pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC GHR 2690 genome.wustl.edu 37 5 42629161 42629161 + Missense_Mutation SNP G G C TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 5 42629161 42629161 G C SNP GHR ENST00000230882 human ensembl 70_37 +1 known missense c.92 p.R31T 0.721 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC GPR115 221393 genome.wustl.edu 37 6 47682098 47682098 + Nonsense_Mutation SNP G G T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 6 47682098 47682098 G T SNP GPR115 ENST00000371220 human ensembl 70_37 +1 known nonsense c.1288 p.E430* 0.000 pfam_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR115 HGNC GPR3 2827 genome.wustl.edu 37 1 27720315 27720315 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 27720315 27720315 G A SNP GPR3 ENST00000374024 human ensembl 70_37 +1 known missense c.13 p.A5T 0.878 prints_GPR3_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_orph_rcpt,prints_GPR3_rcpt,prints_GPCR_Rhodpsn - no_errors GPR3 HGNC GPR39 2863 genome.wustl.edu 37 2 133402986 133402986 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 2 133402986 133402986 G A SNP GPR39 ENST00000329321 human ensembl 70_37 +1 known missense c.1169 p.R390H 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR39 HGNC GPR45 11250 genome.wustl.edu 37 2 105858922 105858922 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 2 105858922 105858922 G A SNP GPR45 ENST00000258456 human ensembl 70_37 +1 known missense c.607 p.V203M 0.952 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC HAO1 54363 genome.wustl.edu 37 20 7886947 7886947 + Nonsense_Mutation SNP G G C TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 20 7886947 7886947 G C SNP HAO1 ENST00000378789 human ensembl 70_37 -1 known nonsense c.575 p.S192* 1.000 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO1 HGNC IGF2R 3482 genome.wustl.edu 37 6 160485837 160485837 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 6 160485837 160485837 C T SNP IGF2R ENST00000356956 human ensembl 70_37 +1 known missense c.4019 p.P1340L 0.641 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC INSR 3643 genome.wustl.edu 37 19 7117417 7117417 + Missense_Mutation SNP C C A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 19 7117417 7117417 C A SNP INSR ENST00000302850 human ensembl 70_37 -1 known missense c.3799 p.D1267Y 0.461 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSR HGNC INTS1 26173 genome.wustl.edu 37 7 1535823 1535823 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 7 1535823 1535823 G A SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known silent c.2064 p.A688 0.008 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC KANSL1 284058 genome.wustl.edu 37 17 44109643 44109643 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 17 44109643 44109643 G A SNP KANSL1 ENST00000262419 human ensembl 70_37 -1 known missense c.2860 p.R954W 1.000 NULL NULL - no_errors KANSL1 HGNC KLHDC1 122773 genome.wustl.edu 37 14 50218437 50218437 + Missense_Mutation SNP A A G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 14 50218437 50218437 A G SNP KLHDC1 ENST00000359332 human ensembl 70_37 +1 known missense c.1168 p.R390G 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Gal_Oxase/kelch_b-propeller - no_errors KLHDC1 HGNC LINC00671 388387 genome.wustl.edu 37 17 41050668 41050668 + RNA SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 17 41050668 41050668 C T SNP LINC00671 ENST00000301683 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00671 HGNC LOC100506303 100506303 genome.wustl.edu 37 14 19686757 19686757 + RNA SNP A A G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 14 19686757 19686757 A G SNP LOC100506303 ENST00000418499 human ensembl 70_37 +1 known rna NULL NULL 0.130 - - - no_errors AL589743.1 Clone_based_vega_gene LOC100996870 100996870 genome.wustl.edu 37 9 66466172 66466172 + RNA SNP T T C TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 9 66466172 66466172 T C SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.124 - - - no_errors RP11-262H14.1 Clone_based_vega_gene LOC100996870 100996870 genome.wustl.edu 37 9 66466586 66466586 + RNA SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 9 66466586 66466586 G A SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors RP11-262H14.1 Clone_based_vega_gene LOC158376 158376 genome.wustl.edu 37 9 35910639 35910639 + RNA SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 9 35910639 35910639 G A SNP LOC158376 ENST00000443779 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-327L3.1 Clone_based_vega_gene LRIF1 55791 genome.wustl.edu 37 1 111494603 111494603 + Silent SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 111494603 111494603 C T SNP LRIF1 ENST00000369763 human ensembl 70_37 -1 known silent c.903 p.T301 0.898 NULL NULL - no_errors LRIF1 HGNC LRP5 4041 genome.wustl.edu 37 11 68197163 68197163 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 11 68197163 68197163 G A SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known missense c.3758 p.C1253Y 1.000 smart_EG-like_dom,pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC MFAP3L 9848 genome.wustl.edu 37 4 170912847 170912847 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 4 170912847 170912847 G A SNP MFAP3L ENST00000361618 human ensembl 70_37 -1 known silent c.912 p.D304 0.429 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MFAP3L HGNC MIA3 375056 genome.wustl.edu 37 1 222803455 222803455 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 222803455 222803455 G A SNP MIA3 ENST00000344441 human ensembl 70_37 +1 known missense c.2893 p.E965K 0.689 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC MLF1 4291 genome.wustl.edu 37 3 158317887 158317887 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 3 158317887 158317887 C T SNP MLF1 ENST00000392822 human ensembl 70_37 +1 known missense c.586 p.H196Y 1.000 pfam_Myeloid_leukemia_factor pfam_Myeloid_leukemia_factor - no_errors MLF1 HGNC KMT2D 8085 genome.wustl.edu 37 12 49434580 49434580 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 12 49434580 49434580 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.6973 p.D2325N 0.998 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC MSMB 4477 genome.wustl.edu 37 10 51556890 51556890 + RNA SNP A A G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 10 51556890 51556890 A G SNP MSMB ENST00000474170 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MSMB HGNC NAA15 80155 genome.wustl.edu 37 4 140270690 140270690 + Nonsense_Mutation SNP G G T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 4 140270690 140270690 G T SNP NAA15 ENST00000296543 human ensembl 70_37 +1 known nonsense c.766 p.E256* 1.000 smart_TPR_repeat,pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC NAP1L3 4675 genome.wustl.edu 37 X 92927307 92927307 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 X 92927307 92927307 C T SNP NAP1L3 ENST00000373079 human ensembl 70_37 -1 known missense c.997 p.D333N 1.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L3 HGNC NRXN1 9378 genome.wustl.edu 37 2 51149818 51149818 + Silent SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 2 51149818 51149818 C T SNP NRXN1 ENST00000402717 human ensembl 70_37 -1 known silent c.798 p.A266 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC OPRD1 4985 genome.wustl.edu 37 1 29189591 29189591 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 29189591 29189591 G A SNP OPRD1 ENST00000234961 human ensembl 70_37 +1 known silent c.915 p.A305 0.406 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opioid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_Somatstn_rcpt,prints_P2_purnocptor,prints_NPY_rcpt - no_errors OPRD1 HGNC OR6K2 81448 genome.wustl.edu 37 1 158669736 158669736 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 158669736 158669736 C T SNP OR6K2 ENST00000359610 human ensembl 70_37 -1 known missense c.707 p.R236H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K2 HGNC PCDH9 5101 genome.wustl.edu 37 13 66879055 66879055 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 13 66879055 66879055 C T SNP PCDH9 ENST00000377865 human ensembl 70_37 -1 known missense c.3446 p.G1149D 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC PELI2 57161 genome.wustl.edu 37 14 56746461 56746461 + Missense_Mutation SNP A A G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 14 56746461 56746461 A G SNP PELI2 ENST00000267460 human ensembl 70_37 +1 known missense c.275 p.E92G 1.000 pfam_Pellino pfam_Pellino - no_errors PELI2 HGNC PELO 53918 genome.wustl.edu 37 5 52096723 52096723 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 5 52096723 52096723 G A SNP PELO ENST00000274311 human ensembl 70_37 +1 known silent c.495 p.V165 1.000 pfam_eRF1_2,tigrfam_Transl_rel_pelota-like pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like - no_errors PELO HGNC PHF12 57649 genome.wustl.edu 37 17 27254014 27254014 + Missense_Mutation SNP G G C TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 17 27254014 27254014 G C SNP PHF12 ENST00000332830 human ensembl 70_37 -1 known missense c.316 p.R106G 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC PID1 55022 genome.wustl.edu 37 2 230020601 230020601 + Missense_Mutation SNP T T G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 2 230020601 230020601 T G SNP PID1 ENST00000354069 human ensembl 70_37 -1 known missense c.209 p.E70A 1.000 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors PID1 HGNC PLXNA2 5362 genome.wustl.edu 37 1 208201416 208201416 + Nonsense_Mutation SNP C C A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 208201416 208201416 C A SNP PLXNA2 ENST00000367033 human ensembl 70_37 -1 known nonsense c.5527 p.E1843* 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA2 HGNC PNLDC1 154197 genome.wustl.edu 37 6 160229830 160229830 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 6 160229830 160229830 G A SNP PNLDC1 ENST00000275275 human ensembl 70_37 +1 known silent c.588 p.T196 0.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC PNPLA1 285848 genome.wustl.edu 37 6 36269960 36269960 + Silent SNP A A T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 6 36269960 36269960 A T SNP PNPLA1 ENST00000457797 human ensembl 70_37 +1 known silent c.1101 p.L367 0.005 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA1 HGNC PNPO 55163 genome.wustl.edu 37 17 46019090 46019090 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 17 46019090 46019090 G A SNP PNPO ENST00000225573 human ensembl 70_37 +1 known missense c.49 p.E17K 0.000 NULL pfam_Pyridox_Oxase_FMN-bd,pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd-related,tigrfam_Pyridox_Oxase - no_errors PNPO HGNC POLR2A 5430 genome.wustl.edu 37 17 7416456 7416456 + Missense_Mutation SNP A A G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 17 7416456 7416456 A G SNP POLR2A ENST00000322644 human ensembl 70_37 +1 known missense c.4873 p.T1625A 0.927 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 POLR3F 10621 genome.wustl.edu 37 20 18448223 18448223 + RNA SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 20 18448223 18448223 G A SNP POLR3F ENST00000462997 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors POLR3F HGNC POSTN 10631 genome.wustl.edu 37 13 38145528 38145528 + Silent SNP T T C TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 13 38145528 38145528 T C SNP POSTN ENST00000379747 human ensembl 70_37 -1 known silent c.2157 p.T719 0.002 pirsf_TGFb-ind_bIGH3/osteoblast_fac2 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC PPP1R7 5510 genome.wustl.edu 37 2 242092929 242092929 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 2 242092929 242092929 G A SNP PPP1R7 ENST00000234038 human ensembl 70_37 +1 known missense c.91 p.E31K 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors PPP1R7 HGNC PRAMEF12 390999 genome.wustl.edu 37 1 12837347 12837347 + Missense_Mutation SNP C C G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 12837347 12837347 C G SNP PRAMEF12 ENST00000357726 human ensembl 70_37 +1 known missense c.1057 p.L353V 0.060 NULL NULL - no_errors PRAMEF12 HGNC PRB4 5545 genome.wustl.edu 37 12 11461645 11461645 + Missense_Mutation SNP C C A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 12 11461645 11461645 C A SNP PRB4 ENST00000279575 human ensembl 70_37 -1 known missense c.272 p.G91V 0.000 NULL NULL - no_errors PRB4 HGNC PRDM14 63978 genome.wustl.edu 37 8 70964454 70964454 + Missense_Mutation SNP G G C TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 8 70964454 70964454 G C SNP PRDM14 ENST00000276594 human ensembl 70_37 -1 known missense c.1574 p.S525C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM14 HGNC PSENEN 55851 genome.wustl.edu 37 19 36237663 36237663 + Missense_Mutation SNP G G T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 19 36237663 36237663 G T SNP PSENEN ENST00000222266 human ensembl 70_37 +1 known missense c.221 p.W74L 1.000 pfam_Gamma_Secretase_Asp_P_PEN2 pfam_Gamma_Secretase_Asp_P_PEN2 - no_errors PSENEN HGNC RB1 5925 genome.wustl.edu 37 13 48955382 48955382 + Splice_Site SNP G G C TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 13 48955382 48955382 G C SNP RB1 ENST00000267163 human ensembl 70_37 +1 known splice_site c.1499-1 e17-1 1.000 - - - no_errors RB1 HGNC RBPJL 11317 genome.wustl.edu 37 20 43945198 43945198 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 20 43945198 43945198 G A SNP RBPJL ENST00000343694 human ensembl 70_37 +1 known missense c.1258 p.V420M 0.995 superfamily_Ig_E-set pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC RSPH4A 345895 genome.wustl.edu 37 6 116953401 116953401 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 6 116953401 116953401 C T SNP RSPH4A ENST00000229554 human ensembl 70_37 +1 known missense c.1948 p.H650Y 1.000 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH4A HGNC RSPO2 340419 genome.wustl.edu 37 8 109094785 109094785 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 8 109094785 109094785 G A SNP RSPO2 ENST00000276659 human ensembl 70_37 -1 known missense c.82 p.R28C 1.000 superfamily_Growth_fac_rcpt superfamily_Growth_fac_rcpt,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO2 HGNC RYR3 6263 genome.wustl.edu 37 15 34130203 34130203 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 15 34130203 34130203 G A SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known missense c.12022 p.D4008N 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC SH3KBP1 30011 genome.wustl.edu 37 X 19568181 19568181 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 X 19568181 19568181 C T SNP SH3KBP1 ENST00000397821 human ensembl 70_37 -1 known missense c.1405 p.V469M 1.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC SIPA1 6494 genome.wustl.edu 37 11 65409844 65409844 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 11 65409844 65409844 C T SNP SIPA1 ENST00000394224 human ensembl 70_37 +1 known missense c.803 p.T268M 0.855 NULL pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1 HGNC SLC25A42 284439 genome.wustl.edu 37 19 19206970 19206970 + Missense_Mutation SNP C C A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 19 19206970 19206970 C A SNP SLC25A42 ENST00000318596 human ensembl 70_37 +1 known missense c.37 p.H13N 0.033 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A42 HGNC STRA6 64220 genome.wustl.edu 37 15 74487663 74487663 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 15 74487663 74487663 C T SNP STRA6 ENST00000563965 human ensembl 70_37 -1 known missense c.694 p.E232K 1.000 NULL NULL - no_errors STRA6 HGNC SV2C 22987 genome.wustl.edu 37 5 75581009 75581009 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 5 75581009 75581009 G A SNP SV2C ENST00000502798 human ensembl 70_37 +1 known silent c.936 p.S312 0.181 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata - no_errors SV2C HGNC SYT7 9066 genome.wustl.edu 37 11 61291299 61291299 + Missense_Mutation SNP C C A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 11 61291299 61291299 C A SNP SYT7 ENST00000263846 human ensembl 70_37 -1 known missense c.907 p.D303Y 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC TARS2 80222 genome.wustl.edu 37 1 150477120 150477120 + Silent SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 1 150477120 150477120 C T SNP TARS2 ENST00000369064 human ensembl 70_37 +1 known silent c.1731 p.A577 0.993 pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS2 HGNC TENM2 57451 genome.wustl.edu 37 5 167589659 167589659 + Silent SNP G G T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 5 167589659 167589659 G T SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known silent c.2466 p.L822 1.000 smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC TEX15 56154 genome.wustl.edu 37 8 30695415 30695415 + Silent SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 8 30695415 30695415 C T SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known silent c.7236 p.S2412 0.015 NULL NULL - no_errors TEX15 HGNC TGDS 23483 genome.wustl.edu 37 13 95248442 95248442 + RNA SNP A A G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 13 95248442 95248442 A G SNP TGDS ENST00000498294 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TGDS HGNC TRPV4 59341 genome.wustl.edu 37 12 110238497 110238497 + Missense_Mutation SNP T T C TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 12 110238497 110238497 T C SNP TRPV4 ENST00000261740 human ensembl 70_37 -1 known missense c.779 p.Q260R 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC TSPEAR 54084 genome.wustl.edu 37 21 45924701 45924701 + Silent SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 21 45924701 45924701 G A SNP TSPEAR ENST00000323084 human ensembl 70_37 -1 known silent c.1818 p.F606 0.801 pfam_EPTP,pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC TTN 7273 genome.wustl.edu 37 2 179507003 179507003 + Missense_Mutation SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 2 179507003 179507003 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.32815 p.R10939C 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179594157 179594157 + Missense_Mutation SNP G G T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 2 179594157 179594157 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.14994 p.S4998R 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC VAV2 7410 genome.wustl.edu 37 9 136652376 136652376 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 9 136652376 136652376 C T SNP VAV2 ENST00000371850 human ensembl 70_37 -1 known missense c.1414 p.G472R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC WAC 51322 genome.wustl.edu 37 10 28821811 28821811 + RNA SNP G G A TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 10 28821811 28821811 G A SNP WAC ENST00000528491 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors WAC HGNC XAF1 54739 genome.wustl.edu 37 17 6659439 6659439 + RNA SNP T T G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 17 6659439 6659439 T G SNP XAF1 ENST00000575267 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors XAF1 HGNC XIST 7503 genome.wustl.edu 37 X 73065175 73065175 + RNA SNP G G T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 X 73065175 73065175 G T SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ZNF711 7552 genome.wustl.edu 37 X 84525770 84525770 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 X 84525770 84525770 C T SNP ZNF711 ENST00000395402 human ensembl 70_37 +1 known missense c.1246 p.H416Y 1.000 pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ZNF812 729648 genome.wustl.edu 37 19 9800928 9800928 + Silent SNP G G T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 19 9800928 9800928 G T SNP ZNF812 ENST00000457674 human ensembl 70_37 -1 known silent c.1251 p.L417 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF812 HGNC ZNF852 285346 genome.wustl.edu 37 3 44540772 44540772 + Missense_Mutation SNP C C G TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52acd6b9-e95e-47ff-933e-eaa927aa6cfd 86b36e7a-53f5-4f0c-8c94-3d013d4a1fa2 3 44540772 44540772 C G SNP ZNF852 ENST00000436261 human ensembl 70_37 -1 known missense c.1497 p.L499F 0.919 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 ZNF852 HGNC