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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All BTNL8 0 genome.wustl.edu 37 5 180376957 180376957 + Missense_Mutation SNP C C A TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 5 180376957 180376957 C A SNP BTNL8 ENST00000340184 human ensembl 69_37n +1 known missense c.916 p.L306M 0.485 superfamily_ConA-like_lec_gl,smart_PRY,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTNL8 HGNC ENSG00000113303 95 0 0.00 89 41 31.54 - - - C9orf114 0 genome.wustl.edu 37 9 131587072 131587072 + Silent SNP G G A TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 9 131587072 131587072 G A SNP C9orf114 ENST00000361256 human ensembl 69_37n -1 known silent c.789 p.T263 0.014 pfam_Put_MeTrfase pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like - no_errors C9orf114 HGNC ENSG00000198917 129 0 0.00 84 59 41.26 - - - COLEC10 0 genome.wustl.edu 37 8 120103458 120103458 + Missense_Mutation SNP G G C TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 8 120103458 120103458 G C SNP COLEC10 ENST00000332843 human ensembl 69_37n +1 known missense c.291 p.K97N 1.000 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC10 HGNC ENSG00000184374 135 0 0.00 127 52 29.05 - - - CSF1 0 genome.wustl.edu 37 1 110466401 110466401 + Missense_Mutation SNP G G C TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 1 110466401 110466401 G C SNP CSF1 ENST00000329608 human ensembl 69_37n +1 known missense c.1158 p.K386N 0.810 pfam_MCSF-1,pirsf_MCSF-1 pfam_MCSF-1,superfamily_4_helix_cytokine-like_core,pirsf_MCSF-1 - no_errors CSF1 HGNC ENSG00000184371 52 0 0.00 39 10 20.41 - - - DDR2 0 genome.wustl.edu 37 1 162746132 162746132 + Missense_Mutation SNP G G A TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 1 162746132 162746132 G A SNP DDR2 ENST00000367921 human ensembl 69_37n +1 known missense c.2255 p.R752H 1.000 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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 87 0 0.00 94 29 23.58 - - - FREM2 0 genome.wustl.edu 37 13 39261792 39261792 + Missense_Mutation SNP G G A TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 13 39261792 39261792 G A SNP FREM2 ENST00000280481 human ensembl 69_37n +1 known missense c.311 p.R104H 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 17 0 0.00 11 13 54.17 - - - GRIN2D 0 genome.wustl.edu 37 19 48908478 48908478 + Missense_Mutation SNP G G A TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 19 48908478 48908478 G A SNP GRIN2D ENST00000263269 human ensembl 69_37n +1 known missense c.953 p.R318Q 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 24 0 0.00 14 11 44.00 - - - MAST4 0 genome.wustl.edu 37 5 66459337 66459337 + Missense_Mutation SNP G G A TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 5 66459337 66459337 G A SNP MAST4 ENST00000404260 human ensembl 69_37n +1 known missense c.4339 p.V1447M 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC ENSG00000069020 13 0 0.00 10 9 47.37 - - - MCOLN1 0 genome.wustl.edu 37 19 7591479 7591479 + Missense_Mutation SNP A A T TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 19 7591479 7591479 A T SNP MCOLN1 ENST00000264079 human ensembl 69_37n +1 known missense c.392 p.H131L 0.123 NULL pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF - no_errors MCOLN1 HGNC ENSG00000090674 78 0 0.00 41 41 50.00 - - - MEX3C 0 genome.wustl.edu 37 18 48702727 48702727 + Silent SNP G G A TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 18 48702727 48702727 G A SNP MEX3C ENST00000406189 human ensembl 69_37n -1 known silent c.1974 p.H658 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3C HGNC ENSG00000176624 26 0 0.00 15 13 46.43 - - - MSRB2 0 genome.wustl.edu 37 10 23393167 23393167 + Missense_Mutation SNP G G A TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 10 23393167 23393167 G A SNP MSRB2 ENST00000472663 human ensembl 69_37n +1 known missense c.95 p.R32Q 0.563 pfam_Methionine_sulphoxide_MsrB,superfamily_Mss4-like pfam_Methionine_sulphoxide_MsrB,superfamily_Mss4-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MSRB2 HGNC ENSG00000148450 76 0 0.00 71 41 36.61 - - - NHSL2 0 genome.wustl.edu 37 X 71359229 71359229 + Missense_Mutation SNP C C T TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 X 71359229 71359229 C T SNP NHSL2 ENST00000540800 human ensembl 69_37n +1 known missense c.1831 p.H611Y 0.410 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 81 0 0.00 75 46 38.02 - - - NR5A2 0 genome.wustl.edu 37 1 200012952 200012952 + Missense_Mutation SNP C C T TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 1 200012952 200012952 C T SNP NR5A2 ENST00000367362 human ensembl 69_37n +1 known missense c.253 p.L85F 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A2 HGNC ENSG00000116833 209 0 0.00 218 112 33.84 - - - NRXN2 0 genome.wustl.edu 37 11 64435947 64435947 + Missense_Mutation SNP C C T TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 11 64435947 64435947 C T SNP NRXN2 ENST00000265459 human ensembl 69_37n -1 known missense c.1327 p.V443I 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 53 0 0.00 49 31 38.75 - - - OTOF 0 genome.wustl.edu 37 2 26688892 26688892 + Missense_Mutation SNP G G A TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 2 26688892 26688892 G A SNP OTOF ENST00000272371 human ensembl 69_37n -1 known missense c.4553 p.A1518V 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,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors OTOF HGNC ENSG00000115155 360 0 0.00 268 185 40.84 - - - PAXIP1 0 genome.wustl.edu 37 7 154752763 154752763 + Missense_Mutation SNP T T A TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 7 154752763 154752763 T A SNP PAXIP1 ENST00000397192 human ensembl 69_37n -1 known missense c.2274 p.K758N 0.979 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 199 0 0.00 175 27 13.37 - - - PCDHGA1 0 genome.wustl.edu 37 5 140711179 140711179 + Missense_Mutation SNP G G A TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 5 140711179 140711179 G A SNP PCDHGA1 ENST00000517417 human ensembl 69_37n +1 known missense c.928 p.E310K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 46 0 0.00 27 15 35.71 - - - PIGA 0 genome.wustl.edu 37 X 15339870 15339870 + Missense_Mutation SNP C C T TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 X 15339870 15339870 C T SNP PIGA ENST00000333590 human ensembl 69_37n -1 known missense c.1213 p.A405T 0.876 NULL pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1 - no_errors PIGA HGNC ENSG00000165195 60 0 0.00 57 43 43.00 - - - PLS3 0 genome.wustl.edu 37 X 114883857 114883857 + Missense_Mutation SNP G G A TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 X 114883857 114883857 G A SNP PLS3 ENST00000355899 human ensembl 69_37n +1 known missense c.1869 p.M623I 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS3 HGNC ENSG00000102024 146 0 0.00 119 38 24.20 - - - PRICKLE3 0 genome.wustl.edu 37 X 49040116 49040117 + Frame_Shift_Del DEL GT GT - TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 X 49040116 49040117 GT - DEL PRICKLE3 ENST00000536904 human ensembl 69_37n -1 known frame_shift_del c.179_178 p.T60fs 0.149:0.119 NULL pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC ENSG00000012211 24 0 0.00 21 4 16.00 - - - RALGPS2 0 genome.wustl.edu 37 1 178780488 178780488 + Silent SNP A A G TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 1 178780488 178780488 A G SNP RALGPS2 ENST00000367635 human ensembl 69_37n +1 known silent c.336 p.Q112 0.991 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC ENSG00000116191 41 0 0.00 48 57 54.29 - - - TG 0 genome.wustl.edu 37 8 133948004 133948004 + Nonsense_Mutation SNP C C T TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 8 133948004 133948004 C T SNP TG ENST00000220616 human ensembl 69_37n +1 known nonsense c.4936 p.R1646* 0.004 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 96 0 0.00 69 43 38.39 - - - TTN 0 genome.wustl.edu 37 2 179650417 179650417 + Missense_Mutation SNP C C T TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 2 179650417 179650417 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.2423 p.R808H 1.000 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 ENSG00000155657 300 0 0.00 221 120 35.19 - - - USP40 0 genome.wustl.edu 37 2 234428319 234428319 + Splice_Site SNP T T C TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 2 234428319 234428319 T C SNP USP40 ENST00000450966 human ensembl 69_37n -1 known splice_site c.2359-2 e17-2 1.000 - - - no_errors USP40 HGNC ENSG00000085982 96 0 0.00 70 46 39.66 - - - ZCCHC2 0 genome.wustl.edu 37 18 60191460 60191460 + Missense_Mutation SNP T T A TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1bb66f02-3977-4ab2-8800-beb75513385b d81fe1bd-0628-4d43-bcd3-81ac3e939331 18 60191460 60191460 T A SNP ZCCHC2 ENST00000269499 human ensembl 69_37n +1 known missense c.803 p.L268Q 0.998 NULL pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC2 HGNC ENSG00000141664 11 0 0.00 8 6 42.86 - - -