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 ABCA13 0 genome.wustl.edu 37 7 48352730 48352730 + Missense_Mutation SNP G G A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 7 48352730 48352730 G A SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.9583 p.A3195T 0.055 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 30 0 0.00 33 15 30.61 - - - ABCA13 0 genome.wustl.edu 37 7 48352730 48352730 + Missense_Mutation SNP G G A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 7 48352730 48352730 G A SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.9583 p.A3195T 0.055 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 31 0 0.00 33 15 30.61 - - - ACAD9 0 genome.wustl.edu 37 3 128631355 128631355 + Missense_Mutation SNP C C G TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 3 128631355 128631355 C G SNP ACAD9 ENST00000308982 human ensembl 69_37n +1 known missense c.1771 p.P591A 1.000 NULL pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACAD9 HGNC ENSG00000177646 59 0 0.00 22 20 47.62 - - - ACAD9 0 genome.wustl.edu 37 3 128631355 128631355 + Missense_Mutation SNP C C G TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 3 128631355 128631355 C G SNP ACAD9 ENST00000308982 human ensembl 69_37n +1 known missense c.1771 p.P591A 1.000 NULL pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACAD9 HGNC ENSG00000177646 28 0 0.00 22 20 47.62 - - - ACOT8 0 genome.wustl.edu 37 20 44485923 44485923 + Missense_Mutation SNP T T G TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 20 44485923 44485923 T G SNP ACOT8 ENST00000217455 human ensembl 69_37n -1 known missense c.32 p.Q11P 0.612 NULL pfam_Acyl_CoA_thio_II_dom,tigrfam_Acyl_CoA_thio - no_errors ACOT8 HGNC ENSG00000101473 8 0 0.00 6 4 40.00 - - - ACOT8 0 genome.wustl.edu 37 20 44485923 44485923 + Missense_Mutation SNP T T G TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 20 44485923 44485923 T G SNP ACOT8 ENST00000217455 human ensembl 69_37n -1 known missense c.32 p.Q11P 0.612 NULL pfam_Acyl_CoA_thio_II_dom,tigrfam_Acyl_CoA_thio - no_errors ACOT8 HGNC ENSG00000101473 13 0 0.00 6 4 40.00 - - - AVPR1B 0 genome.wustl.edu 37 1 206224520 206224520 + Missense_Mutation SNP T T A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 1 206224520 206224520 T A SNP AVPR1B ENST00000367126 human ensembl 69_37n +1 known missense c.80 p.L27Q 0.963 prints_Vprs_rcpt_V1B pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt - no_errors AVPR1B HGNC ENSG00000198049 203 0 0.00 206 76 26.76 - - - AVPR1B 0 genome.wustl.edu 37 1 206224520 206224520 + Missense_Mutation SNP T T A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 1 206224520 206224520 T A SNP AVPR1B ENST00000367126 human ensembl 69_37n +1 known missense c.80 p.L27Q 0.963 prints_Vprs_rcpt_V1B pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt - no_errors AVPR1B HGNC ENSG00000198049 160 0 0.00 206 76 26.76 - - - CDH1 0 genome.wustl.edu 37 16 68844191 68844191 + Missense_Mutation SNP C C A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 16 68844191 68844191 C A SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known missense c.779 p.P260H 0.996 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 223 0 0.00 86 84 49.41 - - - CDH1 0 genome.wustl.edu 37 16 68844191 68844191 + Missense_Mutation SNP C C A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 16 68844191 68844191 C A SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known missense c.779 p.P260H 0.996 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 181 0 0.00 86 84 49.41 - - - DYRK1A 0 genome.wustl.edu 37 21 38884543 38884543 + Silent SNP A A G TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 21 38884543 38884543 A G SNP DYRK1A ENST00000398960 human ensembl 69_37n +1 known silent c.2001 p.T667 1.000 NULL 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 DYRK1A HGNC ENSG00000157540 156 0 0.00 144 39 21.31 - - - DYRK1A 0 genome.wustl.edu 37 21 38884543 38884543 + Silent SNP A A G TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 21 38884543 38884543 A G SNP DYRK1A ENST00000398960 human ensembl 69_37n +1 known silent c.2001 p.T667 1.000 NULL 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 DYRK1A HGNC ENSG00000157540 235 1 0.42 144 39 21.31 - - - EPHB1 0 genome.wustl.edu 37 3 134920392 134920392 + Missense_Mutation SNP C C A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 3 134920392 134920392 C A SNP EPHB1 ENST00000398015 human ensembl 69_37n +1 known missense c.2207 p.A736D 1.000 pirsf_Tyr_kinase_ephrin_rcpt,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB1 HGNC ENSG00000154928 472 0 0.00 351 246 41.07 - - - EPHB1 0 genome.wustl.edu 37 3 134920392 134920392 + Missense_Mutation SNP C C A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 3 134920392 134920392 C A SNP EPHB1 ENST00000398015 human ensembl 69_37n +1 known missense c.2207 p.A736D 1.000 pirsf_Tyr_kinase_ephrin_rcpt,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB1 HGNC ENSG00000154928 578 2 0.34 351 246 41.07 - - - FAM123B 0 genome.wustl.edu 37 X 63412049 63412049 + Missense_Mutation SNP G G A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 X 63412049 63412049 G A SNP FAM123B ENST00000330258 human ensembl 69_37n -1 known missense c.1118 p.A373V 1.000 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC ENSG00000184675 385 0 0.00 87 118 57.28 - - - FAM123B 0 genome.wustl.edu 37 X 63412049 63412049 + Missense_Mutation SNP G G A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f X 63412049 63412049 G A SNP FAM123B ENST00000330258 human ensembl 69_37n -1 known missense c.1118 p.A373V 1.000 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC ENSG00000184675 545 1 0.18 87 118 57.28 - - - FAM75D1 0 genome.wustl.edu 37 9 84610101 84610102 + Frame_Shift_Ins INS - - C TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 9 84610101 84610102 - C INS FAM75D1 ENST00000344803 human ensembl 69_37n +1 known frame_shift_ins c.4716_4717 p.T1574fs 0.000:0.014 NULL NULL - no_errors FAM75D1 HGNC ENSG00000214929 28 0 0.00 13 2 13.33 - - - FAM75D1 0 genome.wustl.edu 37 9 84610101 84610102 + Frame_Shift_Ins INS - - C TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 9 84610101 84610102 - C INS FAM75D1 ENST00000344803 human ensembl 69_37n +1 known frame_shift_ins c.4716_4717 p.T1574fs 0.000:0.014 NULL NULL - no_errors FAM75D1 HGNC ENSG00000214929 22 0 0.00 13 2 13.33 - - - FAM87B 0 genome.wustl.edu 37 1 754182 754182 + RNA SNP A A G TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 1 754182 754182 A G SNP FAM87B ENST00000326734 human ensembl 69_37n +1 known rna NULL NULL 0.003 - - - no_errors FAM87B HGNC ENSG00000177757 24 0 0.00 0 7 100.00 - - - FAM87B 0 genome.wustl.edu 37 1 754192 754192 + RNA SNP A A G TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 1 754192 754192 A G SNP FAM87B ENST00000326734 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors FAM87B HGNC ENSG00000177757 29 0 0.00 0 8 100.00 - - - GPR39 0 genome.wustl.edu 37 2 133175212 133175212 + Silent SNP C C T TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 2 133175212 133175212 C T SNP GPR39 ENST00000329321 human ensembl 69_37n +1 known silent c.597 p.H199 0.223 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 50 0 0.00 43 10 18.87 - - - GSDMC 0 genome.wustl.edu 37 8 130777949 130777949 + Silent SNP G G A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 8 130777949 130777949 G A SNP GSDMC ENST00000276708 human ensembl 69_37n -1 known silent c.495 p.I165 0.001 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 142 0 0.00 177 75 29.64 - - - GSDMC 0 genome.wustl.edu 37 8 130777949 130777949 + Silent SNP G G A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 8 130777949 130777949 G A SNP GSDMC ENST00000276708 human ensembl 69_37n -1 known silent c.495 p.I165 0.001 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 104 1 0.95 177 75 29.64 - - - HS3ST4 0 genome.wustl.edu 37 16 26147359 26147359 + Silent SNP T T C TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 16 26147359 26147359 T C SNP HS3ST4 ENST00000331351 human ensembl 69_37n +1 known silent c.1161 p.Y387 0.999 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST4 HGNC ENSG00000182601 155 0 0.00 109 84 43.30 - - - HS3ST4 0 genome.wustl.edu 37 16 26147359 26147359 + Silent SNP T T C TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 16 26147359 26147359 T C SNP HS3ST4 ENST00000331351 human ensembl 69_37n +1 known silent c.1161 p.Y387 0.999 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST4 HGNC ENSG00000182601 197 1 0.51 109 84 43.30 - - - KIAA0430 0 genome.wustl.edu 37 16 15692757 15692757 + Silent SNP T T C TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 16 15692757 15692757 T C SNP KIAA0430 ENST00000396368 human ensembl 69_37n -1 known silent c.4938 p.Q1646 0.191 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 25 0 0.00 33 43 56.58 - - - KIF21B 0 genome.wustl.edu 37 1 200969636 200969636 + Missense_Mutation SNP C C T TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 1 200969636 200969636 C T SNP KIF21B ENST00000422435 human ensembl 69_37n -1 known missense c.1567 p.A523T 0.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 47 0 0.00 35 23 38.98 - - - KIF21B 0 genome.wustl.edu 37 1 200969636 200969636 + Missense_Mutation SNP C C T TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 1 200969636 200969636 C T SNP KIF21B ENST00000422435 human ensembl 69_37n -1 known missense c.1567 p.A523T 0.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 25 0 0.00 35 23 38.98 - - - KRTAP10-5 0 genome.wustl.edu 37 21 46000198 46000198 + Missense_Mutation SNP C C G TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 21 46000198 46000198 C G SNP KRTAP10-5 ENST00000400372 human ensembl 69_37n -1 known missense c.258 p.Q86H 0.000 NULL NULL - no_errors KRTAP10-5 HGNC ENSG00000241123 333 0 0.00 147 91 38.08 - - - KRTAP10-5 0 genome.wustl.edu 37 21 46000198 46000198 + Missense_Mutation SNP C C G TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 21 46000198 46000198 C G SNP KRTAP10-5 ENST00000400372 human ensembl 69_37n -1 known missense c.258 p.Q86H 0.000 NULL NULL - no_errors KRTAP10-5 HGNC ENSG00000241123 373 0 0.00 147 91 38.08 - - - KRTAP5-1 0 genome.wustl.edu 37 11 1606146 1606147 + In_Frame_Ins INS - - GCC TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 11 1606146 1606147 - GCC INS KRTAP5-1 ENST00000382171 human ensembl 69_37n -1 known in_frame_ins c.334_333 p.111in_frame_insG 0.458:0.354 NULL NULL - no_errors KRTAP5-1 HGNC ENSG00000205869 16 0 0.00 23 12 34.29 - - - LCE2B 0 genome.wustl.edu 37 1 152659368 152659368 + Missense_Mutation SNP C C A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 1 152659368 152659368 C A SNP LCE2B ENST00000368780 human ensembl 69_37n +1 known missense c.49 p.P17T 0.996 NULL NULL - no_errors LCE2B HGNC ENSG00000159455 394 0 0.00 444 468 51.20 - - - LCE2B 0 genome.wustl.edu 37 1 152659368 152659368 + Missense_Mutation SNP C C A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 1 152659368 152659368 C A SNP LCE2B ENST00000368780 human ensembl 69_37n +1 known missense c.49 p.P17T 0.996 NULL NULL - no_errors LCE2B HGNC ENSG00000159455 395 1 0.25 444 468 51.20 - - - MALAT1 0 genome.wustl.edu 37 11 65270001 65270004 + RNA DEL TGTT TGTT - TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 TGTT TGTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 11 65270001 65270004 TGTT - DEL MALAT1 ENST00000534336 human ensembl 69_37n +1 known rna NULL NULL 0.002:0.001:0.204:0.198 - - - no_errors MALAT1 HGNC ENSG00000251562 77 0 0.00 50 25 33.33 - - - MALAT1 0 genome.wustl.edu 37 11 65270001 65270004 + RNA DEL TGTT TGTT - TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 TGTT TGTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 11 65270001 65270004 TGTT - DEL MALAT1 ENST00000534336 human ensembl 69_37n +1 known rna NULL NULL 0.002:0.001:0.204:0.198 - - - no_errors MALAT1 HGNC ENSG00000251562 64 0 0.00 50 25 33.33 - - - MMRN1 0 genome.wustl.edu 37 4 90816310 90816310 + Missense_Mutation SNP C C T TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 4 90816310 90816310 C T SNP MMRN1 ENST00000264790 human ensembl 69_37n +1 known missense c.188 p.A63V 0.093 NULL pfam_C1q,pfam_EMI_domain,pfam_EGF-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q - no_errors MMRN1 HGNC ENSG00000138722 119 0 0.00 78 50 39.06 - - - MMRN1 0 genome.wustl.edu 37 4 90816310 90816310 + Missense_Mutation SNP C C T TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 4 90816310 90816310 C T SNP MMRN1 ENST00000264790 human ensembl 69_37n +1 known missense c.188 p.A63V 0.093 NULL pfam_C1q,pfam_EMI_domain,pfam_EGF-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q - no_errors MMRN1 HGNC ENSG00000138722 170 0 0.00 78 50 39.06 - - - NLRX1 0 genome.wustl.edu 37 11 119050610 119050611 + Frame_Shift_Ins INS - - G TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 11 119050610 119050611 - G INS NLRX1 ENST00000292199 human ensembl 69_37n +1 known frame_shift_ins c.1880_1881 p.L630fs 1.000:1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 74 0 0.00 34 5 12.82 - - - NT5DC1 0 genome.wustl.edu 37 6 116544201 116544201 + Missense_Mutation SNP G G A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 6 116544201 116544201 G A SNP NT5DC1 ENST00000319550 human ensembl 69_37n +1 known missense c.709 p.D237N 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom - no_errors NT5DC1 HGNC ENSG00000178425 115 0 0.00 70 54 43.55 - - - NT5DC1 0 genome.wustl.edu 37 6 116544201 116544201 + Missense_Mutation SNP G G A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 6 116544201 116544201 G A SNP NT5DC1 ENST00000319550 human ensembl 69_37n +1 known missense c.709 p.D237N 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom - no_errors NT5DC1 HGNC ENSG00000178425 70 0 0.00 70 54 43.55 - - - PCDHB6 0 genome.wustl.edu 37 5 140530408 140530408 + Frame_Shift_Del DEL C C - TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 5 140530408 140530408 C - DEL PCDHB6 ENST00000231136 human ensembl 69_37n +1 known frame_shift_del c.570 p.P191fs 0.025 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 PCDHB6 HGNC ENSG00000113211 225 0 0.00 225 75 24.75 - - - PCDHB6 0 genome.wustl.edu 37 5 140530408 140530408 + Frame_Shift_Del DEL C C - TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 5 140530408 140530408 C - DEL PCDHB6 ENST00000231136 human ensembl 69_37n +1 known frame_shift_del c.570 p.P191fs 0.025 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 PCDHB6 HGNC ENSG00000113211 116 0 0.00 225 75 24.75 - - - PHF12 0 genome.wustl.edu 37 17 27238154 27238154 + Nonsense_Mutation SNP G G A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 17 27238154 27238154 G A SNP PHF12 ENST00000332830 human ensembl 69_37n -1 known nonsense c.2191 p.R731* 1.000 NULL 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 ENSG00000109118 44 0 0.00 10 24 70.59 - - - PHF12 0 genome.wustl.edu 37 17 27238154 27238154 + Nonsense_Mutation SNP G G A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 17 27238154 27238154 G A SNP PHF12 ENST00000332830 human ensembl 69_37n -1 known nonsense c.2191 p.R731* 1.000 NULL 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 ENSG00000109118 35 0 0.00 10 24 70.59 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 158 0 0.00 120 73 37.82 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 242 1 0.41 120 73 37.82 - - - POGZ 0 genome.wustl.edu 37 1 151377585 151377585 + Missense_Mutation SNP A A G TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 1 151377585 151377585 A G SNP POGZ ENST00000271715 human ensembl 69_37n -1 known missense c.3926 p.L1309P 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 329 0 0.00 312 115 26.87 - - - POGZ 0 genome.wustl.edu 37 1 151377585 151377585 + Missense_Mutation SNP A A G TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 1 151377585 151377585 A G SNP POGZ ENST00000271715 human ensembl 69_37n -1 known missense c.3926 p.L1309P 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 386 0 0.00 312 115 26.87 - - - POTEF 0 genome.wustl.edu 37 2 130831831 130831831 + Missense_Mutation SNP G G A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 2 130831831 130831831 G A SNP POTEF ENST00000357462 human ensembl 69_37n -1 known missense c.3214 p.R1072C 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors POTEF HGNC ENSG00000196604 134 0 0.00 82 90 52.33 - - - POTEF 0 genome.wustl.edu 37 2 130831831 130831831 + Missense_Mutation SNP G G A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 2 130831831 130831831 G A SNP POTEF ENST00000357462 human ensembl 69_37n -1 known missense c.3214 p.R1072C 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors POTEF HGNC ENSG00000196604 187 0 0.00 82 90 52.33 - - - RGS7 0 genome.wustl.edu 37 1 240975222 240975222 + Missense_Mutation SNP A A C TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 1 240975222 240975222 A C SNP RGS7 ENST00000407727 human ensembl 69_37n -1 known missense c.1078 p.L360V 0.999 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS7 HGNC ENSG00000182901 120 0 0.00 222 84 27.45 - - - RGS7 0 genome.wustl.edu 37 1 240975222 240975222 + Missense_Mutation SNP A A C TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 1 240975222 240975222 A C SNP RGS7 ENST00000407727 human ensembl 69_37n -1 known missense c.1078 p.L360V 0.999 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS7 HGNC ENSG00000182901 193 1 0.52 222 84 27.45 - - - SESTD1 0 genome.wustl.edu 37 2 180047811 180047811 + Missense_Mutation SNP G G A TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 2 180047811 180047811 G A SNP SESTD1 ENST00000428443 human ensembl 69_37n -1 known missense c.160 p.P54S 1.000 superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors SESTD1 HGNC ENSG00000187231 84 0 0.00 60 66 51.56 - - - VILL 0 genome.wustl.edu 37 3 38039827 38039827 + Frame_Shift_Del DEL A A - TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 3 38039827 38039827 A - DEL VILL ENST00000283713 human ensembl 69_37n +1 known frame_shift_del c.914 p.E305fs 1.000 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors VILL HGNC ENSG00000136059 35 0 0.00 8 2 20.00 - - - WDFY3 0 genome.wustl.edu 37 4 85708711 85708711 + Missense_Mutation SNP T T G TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 4 85708711 85708711 T G SNP WDFY3 ENST00000295888 human ensembl 69_37n -1 known missense c.3825 p.L1275F 0.969 superfamily_ConA-like_lec_gl pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 81 0 0.00 43 43 50.00 - - - WDFY3 0 genome.wustl.edu 37 4 85708711 85708711 + Missense_Mutation SNP T T G TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 4 85708711 85708711 T G SNP WDFY3 ENST00000295888 human ensembl 69_37n -1 known missense c.3825 p.L1275F 0.969 superfamily_ConA-like_lec_gl pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 129 1 0.77 43 43 50.00 - - - ZNF841 0 genome.wustl.edu 37 19 52570087 52570087 + Missense_Mutation SNP A A C TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa eb7e283b-158b-4b73-8460-4d89aad28b76 19 52570087 52570087 A C SNP ZNF841 ENST00000389534 human ensembl 69_37n -1 known missense c.1048 p.C350G 0.992 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 ZNF841 HGNC ENSG00000197608 74 0 0.00 75 29 27.88 - - - ZNF841 0 genome.wustl.edu 37 19 52570087 52570087 + Missense_Mutation SNP A A C TCGA-BH-A0BA-01A-11W-A071-09 TCGA-BH-A0BA-11A-22W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 897874e6-cf93-4b4b-8b66-8914d13036aa 931205be-0a3e-4a3a-a77b-0583f104173f 19 52570087 52570087 A C SNP ZNF841 ENST00000389534 human ensembl 69_37n -1 known missense c.1048 p.C350G 0.992 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 ZNF841 HGNC ENSG00000197608 85 0 0.00 75 29 27.88 - - -