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 ADAM19 0 genome.wustl.edu 37 5 156907975 156907975 + Missense_Mutation SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 5 156907975 156907975 C T SNP ADAM19 ENST00000394020 human ensembl 69_37n -1 known missense c.2745 p.M915I 0.010 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 45 0 0.00 53 6 10.17 - - - ADAM19 0 genome.wustl.edu 37 5 156907975 156907975 + Missense_Mutation SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 5 156907975 156907975 C T SNP ADAM19 ENST00000394020 human ensembl 69_37n -1 known missense c.2745 p.M915I 0.010 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 55 0 0.00 53 6 10.17 - - - ADORA3 0 genome.wustl.edu 37 1 112042833 112042833 + Silent SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 1 112042833 112042833 C T SNP ADORA3 ENST00000241356 human ensembl 69_37n -1 known silent c.696 p.L232 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Adenosn_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Adeno_A3_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Adenosn_rcpt - no_errors ADORA3 HGNC ENSG00000121933 41 0 0.00 24 6 20.00 - - - ADORA3 0 genome.wustl.edu 37 1 112042833 112042833 + Silent SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 1 112042833 112042833 C T SNP ADORA3 ENST00000241356 human ensembl 69_37n -1 known silent c.696 p.L232 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Adenosn_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Adeno_A3_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Adenosn_rcpt - no_errors ADORA3 HGNC ENSG00000121933 17 0 0.00 24 6 20.00 - - - AGBL1 0 genome.wustl.edu 37 15 86807904 86807904 + Missense_Mutation SNP C C G TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 15 86807904 86807904 C G SNP AGBL1 ENST00000441037 human ensembl 69_37n +1 known missense c.1364 p.T455R 0.000 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 59 0 0.00 54 19 25.33 - - - AGBL1 0 genome.wustl.edu 37 15 86807904 86807904 + Missense_Mutation SNP C C G TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 15 86807904 86807904 C G SNP AGBL1 ENST00000441037 human ensembl 69_37n +1 known missense c.1364 p.T455R 0.000 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 41 0 0.00 54 19 25.33 - - - ATP2B2 0 genome.wustl.edu 37 3 10491115 10491115 + Missense_Mutation SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 3 10491115 10491115 C T SNP ATP2B2 ENST00000352432 human ensembl 69_37n -1 known missense c.113 p.R38Q 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ENSG00000157087 98 0 0.00 120 27 18.37 - - - ATP2B2 0 genome.wustl.edu 37 3 10491115 10491115 + Missense_Mutation SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 3 10491115 10491115 C T SNP ATP2B2 ENST00000352432 human ensembl 69_37n -1 known missense c.113 p.R38Q 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ENSG00000157087 54 0 0.00 120 27 18.37 - - - BCL6B 0 genome.wustl.edu 37 17 6927077 6927077 + Silent SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 17 6927077 6927077 C T SNP BCL6B ENST00000293805 human ensembl 69_37n +1 known silent c.87 p.N29 0.634 pfam_BTB_POZ,superfamily_BTB/POZ_fold pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6B HGNC ENSG00000161940 75 0 0.00 87 22 20.18 - - - BCL6B 0 genome.wustl.edu 37 17 6927077 6927077 + Silent SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 17 6927077 6927077 C T SNP BCL6B ENST00000293805 human ensembl 69_37n +1 known silent c.87 p.N29 0.634 pfam_BTB_POZ,superfamily_BTB/POZ_fold pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6B HGNC ENSG00000161940 56 0 0.00 87 22 20.18 - - - BLVRA 0 genome.wustl.edu 37 7 43846680 43846680 + Missense_Mutation SNP T T C TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 7 43846680 43846680 T C SNP BLVRA ENST00000265523 human ensembl 69_37n +1 known missense c.737 p.V246A 0.009 pirsf_Biliverdin_Rdtase_A pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A - no_errors BLVRA HGNC ENSG00000106605 42 0 0.00 30 6 16.67 - - - BLVRA 0 genome.wustl.edu 37 7 43846680 43846680 + Missense_Mutation SNP T T C TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 7 43846680 43846680 T C SNP BLVRA ENST00000265523 human ensembl 69_37n +1 known missense c.737 p.V246A 0.009 pirsf_Biliverdin_Rdtase_A pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A - no_errors BLVRA HGNC ENSG00000106605 28 0 0.00 30 6 16.67 - - - CASKIN2 0 genome.wustl.edu 37 17 73497206 73497206 + Silent SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 17 73497206 73497206 G A SNP CASKIN2 ENST00000321617 human ensembl 69_37n -1 known silent c.3564 p.T1188 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain - no_errors CASKIN2 HGNC ENSG00000177303 65 0 0.00 37 30 44.78 - - - CASKIN2 0 genome.wustl.edu 37 17 73497206 73497206 + Silent SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 17 73497206 73497206 G A SNP CASKIN2 ENST00000321617 human ensembl 69_37n -1 known silent c.3564 p.T1188 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain - no_errors CASKIN2 HGNC ENSG00000177303 45 0 0.00 37 30 44.78 - - - CENPF 0 genome.wustl.edu 37 1 214795494 214795494 + Missense_Mutation SNP A A G TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 1 214795494 214795494 A G SNP CENPF ENST00000366955 human ensembl 69_37n +1 known missense c.938 p.N313S 0.970 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 50 0 0.00 32 9 21.95 - - - CENPF 0 genome.wustl.edu 37 1 214795494 214795494 + Missense_Mutation SNP A A G TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 1 214795494 214795494 A G SNP CENPF ENST00000366955 human ensembl 69_37n +1 known missense c.938 p.N313S 0.970 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 34 0 0.00 32 9 21.95 - - - CEP112 0 genome.wustl.edu 37 17 63685174 63685174 + RNA SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 17 63685174 63685174 C T SNP CEP112 ENST00000580482 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors CEP112 HGNC ENSG00000154240 37 0 0.00 30 4 11.76 - - - CEP112 0 genome.wustl.edu 37 17 63685174 63685174 + RNA SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 17 63685174 63685174 C T SNP CEP112 ENST00000580482 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors CEP112 HGNC ENSG00000154240 34 0 0.00 30 4 11.76 - - - COL6A4P1 0 genome.wustl.edu 37 3 15216727 15216727 + RNA SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 3 15216727 15216727 G A SNP COL6A4P1 ENST00000446690 human ensembl 69_37n -1 known rna NULL NULL 0.999 - - - no_errors COL6A4P1 HGNC ENSG00000230524 59 0 0.00 70 43 38.05 - - - COL6A4P1 0 genome.wustl.edu 37 3 15216727 15216727 + RNA SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 3 15216727 15216727 G A SNP COL6A4P1 ENST00000446690 human ensembl 69_37n -1 known rna NULL NULL 0.999 - - - no_errors COL6A4P1 HGNC ENSG00000230524 61 0 0.00 70 43 38.05 - - - CPNE8 0 genome.wustl.edu 37 12 39047620 39047620 + RNA SNP C C A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 12 39047620 39047620 C A SNP CPNE8 ENST00000546603 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors CPNE8 HGNC ENSG00000139117 72 0 0.00 135 24 15.09 - - - CPNE8 0 genome.wustl.edu 37 12 39047620 39047620 + RNA SNP C C A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 12 39047620 39047620 C A SNP CPNE8 ENST00000546603 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors CPNE8 HGNC ENSG00000139117 61 0 0.00 135 24 15.09 - - - DBC1 0 genome.wustl.edu 37 9 121929581 121929581 + Silent SNP A A C TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 9 121929581 121929581 A C SNP DBC1 ENST00000265922 human ensembl 69_37n -1 known silent c.2067 p.S689 0.058 NULL pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC ENSG00000078725 16 0 0.00 27 9 25.00 - - - DBC1 0 genome.wustl.edu 37 9 121929581 121929581 + Silent SNP A A C TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 9 121929581 121929581 A C SNP DBC1 ENST00000265922 human ensembl 69_37n -1 known silent c.2067 p.S689 0.058 NULL pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC ENSG00000078725 26 0 0.00 27 9 25.00 - - - DDO 0 genome.wustl.edu 37 6 110729556 110729556 + Missense_Mutation SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 6 110729556 110729556 C T SNP DDO ENST00000368924 human ensembl 69_37n -1 known missense c.346 p.G116S 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DDO HGNC ENSG00000203797 63 0 0.00 76 48 38.71 - - - DDO 0 genome.wustl.edu 37 6 110729556 110729556 + Missense_Mutation SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 6 110729556 110729556 C T SNP DDO ENST00000368924 human ensembl 69_37n -1 known missense c.346 p.G116S 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DDO HGNC ENSG00000203797 61 0 0.00 76 48 38.71 - - - DOCK6 0 genome.wustl.edu 37 19 11325067 11325067 + Missense_Mutation SNP C C A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 19 11325067 11325067 C A SNP DOCK6 ENST00000294618 human ensembl 69_37n -1 known missense c.4222 p.A1408S 1.000 NULL pfam_DOCK,pfam_DUF3398 - no_errors DOCK6 HGNC ENSG00000130158 42 0 0.00 32 4 11.11 - - - DOCK6 0 genome.wustl.edu 37 19 11325067 11325067 + Missense_Mutation SNP C C A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 19 11325067 11325067 C A SNP DOCK6 ENST00000294618 human ensembl 69_37n -1 known missense c.4222 p.A1408S 1.000 NULL pfam_DOCK,pfam_DUF3398 - no_errors DOCK6 HGNC ENSG00000130158 38 0 0.00 32 4 11.11 - - - ENGASE 0 genome.wustl.edu 37 17 77081765 77081765 + Silent SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 17 77081765 77081765 G A SNP ENGASE ENST00000579016 human ensembl 69_37n +1 known silent c.1764 p.P588 0.002 NULL pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000167280 79 0 0.00 75 16 17.58 - - - ENGASE 0 genome.wustl.edu 37 17 77081765 77081765 + Silent SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 17 77081765 77081765 G A SNP ENGASE ENST00000579016 human ensembl 69_37n +1 known silent c.1764 p.P588 0.002 NULL pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000167280 50 0 0.00 75 16 17.58 - - - FLNA 0 genome.wustl.edu 37 X 153594795 153594795 + Missense_Mutation SNP A A T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 X 153594795 153594795 A T SNP FLNA ENST00000369850 human ensembl 69_37n -1 known missense c.1109 p.F370Y 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 112 0 0.00 160 60 27.27 - - - FLNA 0 genome.wustl.edu 37 X 153594795 153594795 + Missense_Mutation SNP A A T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd X 153594795 153594795 A T SNP FLNA ENST00000369850 human ensembl 69_37n -1 known missense c.1109 p.F370Y 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 104 0 0.00 160 60 27.27 - - - FSIP2 0 genome.wustl.edu 37 2 186673617 186673617 + Missense_Mutation SNP A A C TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 2 186673617 186673617 A C SNP FSIP2 ENST00000343098 human ensembl 69_37n +1 known missense c.19851 p.K6617N 0.460 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 39 0 0.00 59 7 10.45 - - - FSIP2 0 genome.wustl.edu 37 2 186673617 186673617 + Missense_Mutation SNP A A C TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 2 186673617 186673617 A C SNP FSIP2 ENST00000343098 human ensembl 69_37n +1 known missense c.19851 p.K6617N 0.460 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 44 0 0.00 59 7 10.45 - - - FTH1P10 0 genome.wustl.edu 37 5 17354528 17354528 + RNA SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 5 17354528 17354528 G A SNP FTH1P10 ENST00000401830 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors FTH1P10 HGNC ENSG00000223361 65 0 0.00 69 45 39.47 - - - FTH1P10 0 genome.wustl.edu 37 5 17354528 17354528 + RNA SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 5 17354528 17354528 G A SNP FTH1P10 ENST00000401830 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors FTH1P10 HGNC ENSG00000223361 58 0 0.00 69 45 39.47 - - - GNN 0 genome.wustl.edu 37 12 104287077 104287077 + RNA SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 12 104287077 104287077 G A SNP GNN ENST00000552065 human ensembl 69_37n -1 known rna NULL NULL 0.908 - - - no_errors RP11-642P15.1 Clone_based_vega_gene ENSG00000214198 49 0 0.00 41 5 10.87 - - - GNN 0 genome.wustl.edu 37 12 104287077 104287077 + RNA SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 12 104287077 104287077 G A SNP GNN ENST00000552065 human ensembl 69_37n -1 known rna NULL NULL 0.908 - - - no_errors RP11-642P15.1 Clone_based_vega_gene ENSG00000214198 39 0 0.00 41 5 10.87 - - - GPAT2 0 genome.wustl.edu 37 2 96688929 96688929 + Missense_Mutation SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 2 96688929 96688929 G A SNP GPAT2 ENST00000359548 human ensembl 69_37n -1 known missense c.2074 p.R692C 1.000 NULL smart_Acyltransferase - no_errors GPAT2 HGNC ENSG00000186281 31 0 0.00 55 11 16.67 - - - GPBP1L1 0 genome.wustl.edu 37 1 46121010 46121010 + RNA SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 1 46121010 46121010 G A SNP GPBP1L1 ENST00000496278 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GPBP1L1 HGNC ENSG00000159592 66 0 0.00 72 19 20.88 - - - GPBP1L1 0 genome.wustl.edu 37 1 46121010 46121010 + RNA SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 1 46121010 46121010 G A SNP GPBP1L1 ENST00000496278 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GPBP1L1 HGNC ENSG00000159592 69 0 0.00 72 19 20.88 - - - GRIN2D 0 genome.wustl.edu 37 19 48922957 48922957 + Silent SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 19 48922957 48922957 G A SNP GRIN2D ENST00000263269 human ensembl 69_37n +1 known silent c.1977 p.V659 0.983 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_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 61 0 0.00 114 18 13.64 - - - GRIN2D 0 genome.wustl.edu 37 19 48922957 48922957 + Silent SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 19 48922957 48922957 G A SNP GRIN2D ENST00000263269 human ensembl 69_37n +1 known silent c.1977 p.V659 0.983 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_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 49 0 0.00 114 18 13.64 - - - HEG1 0 genome.wustl.edu 37 3 124732410 124732410 + Silent SNP A A G TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 3 124732410 124732410 A G SNP HEG1 ENST00000311127 human ensembl 69_37n -1 known silent c.2013 p.S671 0.018 NULL pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 26 0 0.00 28 7 20.00 - - - HIST4H4 0 genome.wustl.edu 37 12 14923963 14923963 + Missense_Mutation SNP T T A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 12 14923963 14923963 T A SNP HIST4H4 ENST00000358064 human ensembl 69_37n -1 known missense c.56 p.H19L 1.000 superfamily_Histone-fold,smart_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST4H4 HGNC ENSG00000197837 45 0 0.00 71 14 16.47 - - - HIST4H4 0 genome.wustl.edu 37 12 14923963 14923963 + Missense_Mutation SNP T T A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 12 14923963 14923963 T A SNP HIST4H4 ENST00000358064 human ensembl 69_37n -1 known missense c.56 p.H19L 1.000 superfamily_Histone-fold,smart_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST4H4 HGNC ENSG00000197837 47 0 0.00 71 14 16.47 - - - HYDIN 0 genome.wustl.edu 37 16 70928402 70928402 + Silent SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 16 70928402 70928402 C T SNP HYDIN ENST00000316490 human ensembl 69_37n -1 known silent c.9195 p.A3065 0.896 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 38 0 0.00 41 5 10.87 - - - IGFN1 0 genome.wustl.edu 37 1 201176353 201176353 + Missense_Mutation SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 1 201176353 201176353 C T SNP IGFN1 ENST00000335211 human ensembl 69_37n +1 known missense c.2332 p.P778S 0.009 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC ENSG00000163395 28 0 0.00 53 6 10.17 - - - KPRP 0 genome.wustl.edu 37 1 152732300 152732300 + Missense_Mutation SNP A A G TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 1 152732300 152732300 A G SNP KPRP ENST00000368773 human ensembl 69_37n +1 known missense c.236 p.K79R 0.031 NULL NULL - no_errors KPRP HGNC ENSG00000203786 65 0 0.00 79 15 15.96 - - - KPRP 0 genome.wustl.edu 37 1 152732300 152732300 + Missense_Mutation SNP A A G TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 1 152732300 152732300 A G SNP KPRP ENST00000368773 human ensembl 69_37n +1 known missense c.236 p.K79R 0.031 NULL NULL - no_errors KPRP HGNC ENSG00000203786 46 0 0.00 79 15 15.96 - - - LCE1D 0 genome.wustl.edu 37 1 152770503 152770503 + Missense_Mutation SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 1 152770503 152770503 G A SNP LCE1D ENST00000326233 human ensembl 69_37n +1 known missense c.233 p.R78H 0.956 NULL NULL - no_errors LCE1D HGNC ENSG00000172155 51 0 0.00 81 13 13.83 - - - LRRC8D 0 genome.wustl.edu 37 1 90400208 90400208 + Silent SNP T T C TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 1 90400208 90400208 T C SNP LRRC8D ENST00000337338 human ensembl 69_37n +1 known silent c.1581 p.V527 0.002 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 53 0 0.00 69 18 20.69 - - - LRRC8D 0 genome.wustl.edu 37 1 90400208 90400208 + Silent SNP T T C TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 1 90400208 90400208 T C SNP LRRC8D ENST00000337338 human ensembl 69_37n +1 known silent c.1581 p.V527 0.002 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 36 0 0.00 69 18 20.69 - - - MAB21L1 0 genome.wustl.edu 37 13 36049883 36049883 + Silent SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 13 36049883 36049883 C T SNP MAB21L1 ENST00000379919 human ensembl 69_37n -1 known silent c.393 p.R131 0.992 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 44 0 0.00 27 17 38.64 - - - MAB21L1 0 genome.wustl.edu 37 13 36049883 36049883 + Silent SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 13 36049883 36049883 C T SNP MAB21L1 ENST00000379919 human ensembl 69_37n -1 known silent c.393 p.R131 0.992 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 31 0 0.00 27 17 38.64 - - - MLL3 0 genome.wustl.edu 37 7 151945694 151945694 + Frame_Shift_Del DEL G G - TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 7 151945694 151945694 G - DEL MLL3 ENST00000355193 human ensembl 69_37n -1 known frame_shift_del c.1825 p.H609fs 0.000 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_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 29 0 0.00 14 17 53.12 - - - MLL3 0 genome.wustl.edu 37 7 151945694 151945694 + Frame_Shift_Del DEL G G - TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 7 151945694 151945694 G - DEL MLL3 ENST00000355193 human ensembl 69_37n -1 known frame_shift_del c.1825 p.H609fs 0.000 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_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 26 0 0.00 14 17 53.12 - - - MOB3C 0 genome.wustl.edu 37 1 47078684 47078684 + Missense_Mutation SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 1 47078684 47078684 G A SNP MOB3C ENST00000271139 human ensembl 69_37n -1 known missense c.466 p.R156C 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB3C HGNC ENSG00000142961 66 0 0.00 55 30 35.29 - - - MOB3C 0 genome.wustl.edu 37 1 47078684 47078684 + Missense_Mutation SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 1 47078684 47078684 G A SNP MOB3C ENST00000271139 human ensembl 69_37n -1 known missense c.466 p.R156C 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB3C HGNC ENSG00000142961 56 0 0.00 55 30 35.29 - - - MRPS2 0 genome.wustl.edu 37 9 138395623 138395623 + Missense_Mutation SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 9 138395623 138395623 G A SNP MRPS2 ENST00000241600 human ensembl 69_37n +1 known missense c.535 p.A179T 0.998 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2 - no_errors MRPS2 HGNC ENSG00000122140 39 0 0.00 30 10 25.00 - - - MRPS2 0 genome.wustl.edu 37 9 138395623 138395623 + Missense_Mutation SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 9 138395623 138395623 G A SNP MRPS2 ENST00000241600 human ensembl 69_37n +1 known missense c.535 p.A179T 0.998 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2 - no_errors MRPS2 HGNC ENSG00000122140 22 0 0.00 30 10 25.00 - - - MYO18B 0 genome.wustl.edu 37 22 26291146 26291146 + Missense_Mutation SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 22 26291146 26291146 G A SNP MYO18B ENST00000335473 human ensembl 69_37n +1 known missense c.4567 p.D1523N 0.987 NULL pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 71 0 0.00 50 29 36.71 - - - MYO18B 0 genome.wustl.edu 37 22 26291146 26291146 + Missense_Mutation SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 22 26291146 26291146 G A SNP MYO18B ENST00000335473 human ensembl 69_37n +1 known missense c.4567 p.D1523N 0.987 NULL pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 62 0 0.00 50 29 36.71 - - - MYO5B 0 genome.wustl.edu 37 18 47511089 47511089 + Silent SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 18 47511089 47511089 G A SNP MYO5B ENST00000285039 human ensembl 69_37n -1 known silent c.945 p.L315 0.069 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 65 0 0.00 77 47 37.90 - - - MYO5B 0 genome.wustl.edu 37 18 47511089 47511089 + Silent SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 18 47511089 47511089 G A SNP MYO5B ENST00000285039 human ensembl 69_37n -1 known silent c.945 p.L315 0.069 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 51 0 0.00 77 47 37.90 - - - NBPF1 0 genome.wustl.edu 37 1 16889890 16889891 + RNA DEL TG TG - TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 1 16889890 16889891 TG - DEL NBPF1 ENST00000392963 human ensembl 69_37n -1 known rna NULL NULL 0.001:0.000 - - - no_errors NBPF1 HGNC ENSG00000219481 9 0 0.00 7 4 36.36 - - - PCDHA13 0 genome.wustl.edu 37 5 140263298 140263298 + Missense_Mutation SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 5 140263298 140263298 C T SNP PCDHA13 ENST00000289272 human ensembl 69_37n +1 known missense c.1445 p.A482V 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 193 0 0.00 152 48 24.00 - - - PCDHA13 0 genome.wustl.edu 37 5 140263298 140263298 + Missense_Mutation SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 5 140263298 140263298 C T SNP PCDHA13 ENST00000289272 human ensembl 69_37n +1 known missense c.1445 p.A482V 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 172 0 0.00 152 48 24.00 - - - PCDHGB7 0 genome.wustl.edu 37 5 140798221 140798221 + Missense_Mutation SNP G G T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 5 140798221 140798221 G T SNP PCDHGB7 ENST00000398594 human ensembl 69_37n +1 known missense c.795 p.K265N 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 64 0 0.00 40 12 23.08 - - - PCDHGB7 0 genome.wustl.edu 37 5 140798221 140798221 + Missense_Mutation SNP G G T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 5 140798221 140798221 G T SNP PCDHGB7 ENST00000398594 human ensembl 69_37n +1 known missense c.795 p.K265N 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 56 0 0.00 40 12 23.08 - - - PCGF6 0 genome.wustl.edu 37 10 105110525 105110527 + In_Frame_Del DEL TCC TCC - TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 10 105110525 105110527 TCC - DEL PCGF6 ENST00000369847 human ensembl 69_37n -1 known in_frame_del c.299_297 p.E99in_frame_del 0.531:0.557:0.476 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF6 HGNC ENSG00000156374 133 0 0.00 88 76 45.78 - - - PCGF6 0 genome.wustl.edu 37 10 105110525 105110527 + In_Frame_Del DEL TCC TCC - TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 10 105110525 105110527 TCC - DEL PCGF6 ENST00000369847 human ensembl 69_37n -1 known in_frame_del c.299_297 p.E99in_frame_del 0.531:0.557:0.476 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF6 HGNC ENSG00000156374 75 0 0.00 88 76 45.78 - - - PCSK7 0 genome.wustl.edu 37 11 117076708 117076708 + RNA SNP T T C TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 11 117076708 117076708 T C SNP PCSK7 ENST00000529458 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors PCSK7 HGNC ENSG00000160613 9 0 0.00 12 8 40.00 - - - PDE1B 0 genome.wustl.edu 37 12 54955324 54955324 + RNA SNP T T C TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 12 54955324 54955324 T C SNP PDE1B ENST00000394277 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PDE1B HGNC ENSG00000123360 42 0 0.00 71 8 10.13 - - - PPYR1 0 genome.wustl.edu 37 10 47087803 47087803 + Frame_Shift_Del DEL C C - TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 10 47087803 47087803 C - DEL PPYR1 ENST00000374312 human ensembl 69_37n +1 known frame_shift_del c.1020 p.Q341fs 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_NPY4_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PPYR1 HGNC ENSG00000204174 188 0 0.00 275 65 18.90 - - - PPYR1 0 genome.wustl.edu 37 10 47087803 47087803 + Frame_Shift_Del DEL C C - TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 10 47087803 47087803 C - DEL PPYR1 ENST00000374312 human ensembl 69_37n +1 known frame_shift_del c.1020 p.Q341fs 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_NPY4_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PPYR1 HGNC ENSG00000204174 153 0 0.00 275 65 18.90 - - - PROC 0 genome.wustl.edu 37 2 128178906 128178906 + Missense_Mutation SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 2 128178906 128178906 C T SNP PROC ENST00000453608 human ensembl 69_37n +1 known missense c.181 p.R61C 0.881 pirsf_Pept_S1A_FX,smart_GLA_domain pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6 - no_errors PROC HGNC ENSG00000115718 24 0 0.00 19 4 17.39 - - - R3HDM1 0 genome.wustl.edu 37 2 136379141 136379141 + Frame_Shift_Del DEL G G - TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 2 136379141 136379141 G - DEL R3HDM1 ENST00000264160 human ensembl 69_37n +1 known frame_shift_del c.381 p.A128fs 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM1 HGNC ENSG00000048991 73 0 0.00 83 10 10.53 - - - R3HDM1 0 genome.wustl.edu 37 2 136379141 136379141 + Frame_Shift_Del DEL G G - TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 2 136379141 136379141 G - DEL R3HDM1 ENST00000264160 human ensembl 69_37n +1 known frame_shift_del c.381 p.A128fs 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM1 HGNC ENSG00000048991 71 0 0.00 83 10 10.53 - - - RAD21L1 0 genome.wustl.edu 37 20 1218796 1218796 + Missense_Mutation SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 20 1218796 1218796 G A SNP RAD21L1 ENST00000409241 human ensembl 69_37n +1 known missense c.584 p.R195Q 0.793 NULL pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors RAD21L1 HGNC ENSG00000244588 54 0 0.00 112 15 11.81 - - - RAD21L1 0 genome.wustl.edu 37 20 1218796 1218796 + Missense_Mutation SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 20 1218796 1218796 G A SNP RAD21L1 ENST00000409241 human ensembl 69_37n +1 known missense c.584 p.R195Q 0.793 NULL pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors RAD21L1 HGNC ENSG00000244588 61 0 0.00 112 15 11.81 - - - RGR 0 genome.wustl.edu 37 10 86017648 86017648 + Splice_Site SNP G G T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 10 86017648 86017648 G T SNP RGR ENST00000359452 human ensembl 69_37n +1 known splice_site c.643-1 e6-1 1.000 - - - no_errors RGR HGNC ENSG00000148604 33 0 0.00 35 4 10.26 - - - RGR 0 genome.wustl.edu 37 10 86017648 86017648 + Splice_Site SNP G G T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 10 86017648 86017648 G T SNP RGR ENST00000359452 human ensembl 69_37n +1 known splice_site c.643-1 e6-1 1.000 - - - no_errors RGR HGNC ENSG00000148604 29 0 0.00 35 4 10.26 - - - RHPN1 0 genome.wustl.edu 37 8 144462047 144462047 + Missense_Mutation SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 8 144462047 144462047 G A SNP RHPN1 ENST00000289013 human ensembl 69_37n +1 known missense c.994 p.V332I 0.694 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ - no_errors RHPN1 HGNC ENSG00000158106 160 0 0.00 180 41 18.55 - - - RHPN1 0 genome.wustl.edu 37 8 144462047 144462047 + Missense_Mutation SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 8 144462047 144462047 G A SNP RHPN1 ENST00000289013 human ensembl 69_37n +1 known missense c.994 p.V332I 0.694 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ - no_errors RHPN1 HGNC ENSG00000158106 94 0 0.00 180 41 18.55 - - - RPL23AP7 0 genome.wustl.edu 37 2 114369629 114369629 + RNA SNP G G T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 2 114369629 114369629 G T SNP RPL23AP7 ENST00000391616 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors AL078621.11 Clone_based_vega_gene ENSG00000240356 18 0 0.00 12 5 29.41 - - - SFRP1 0 genome.wustl.edu 37 8 41122697 41122697 + Missense_Mutation SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 8 41122697 41122697 C T SNP SFRP1 ENST00000220772 human ensembl 69_37n -1 known missense c.934 p.V312M 0.951 NULL pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP1 HGNC ENSG00000104332 42 0 0.00 68 18 20.93 - - - SFRP1 0 genome.wustl.edu 37 8 41122697 41122697 + Missense_Mutation SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 8 41122697 41122697 C T SNP SFRP1 ENST00000220772 human ensembl 69_37n -1 known missense c.934 p.V312M 0.951 NULL pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP1 HGNC ENSG00000104332 37 0 0.00 68 18 20.93 - - - SHISA9 0 genome.wustl.edu 37 16 13297377 13297377 + Missense_Mutation SNP T T C TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 16 13297377 13297377 T C SNP SHISA9 ENST00000558583 human ensembl 69_37n +1 known missense c.941 p.L314P 1.000 NULL NULL - no_errors SHISA9 HGNC ENSG00000237515 42 0 0.00 24 28 53.85 - - - SHISA9 0 genome.wustl.edu 37 16 13297377 13297377 + Missense_Mutation SNP T T C TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 16 13297377 13297377 T C SNP SHISA9 ENST00000558583 human ensembl 69_37n +1 known missense c.941 p.L314P 1.000 NULL NULL - no_errors SHISA9 HGNC ENSG00000237515 54 0 0.00 24 28 53.85 - - - SIX3 0 genome.wustl.edu 37 2 45169910 45169910 + Nonsense_Mutation SNP G G T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 2 45169910 45169910 G T SNP SIX3 ENST00000260653 human ensembl 69_37n +1 known nonsense c.667 p.E223* 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX3 HGNC ENSG00000138083 80 0 0.00 68 17 20.00 - - - SIX3 0 genome.wustl.edu 37 2 45169910 45169910 + Nonsense_Mutation SNP G G T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 2 45169910 45169910 G T SNP SIX3 ENST00000260653 human ensembl 69_37n +1 known nonsense c.667 p.E223* 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX3 HGNC ENSG00000138083 52 0 0.00 68 17 20.00 - - - SLAMF9 0 genome.wustl.edu 37 1 159923336 159923336 + Missense_Mutation SNP T T A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 1 159923336 159923336 T A SNP SLAMF9 ENST00000368093 human ensembl 69_37n -1 known missense c.154 p.N52Y 0.000 pfam_Ig_V-set pfam_Ig_V-set,pfscan_Ig-like - no_errors SLAMF9 HGNC ENSG00000162723 45 0 0.00 93 14 13.08 - - - SLAMF9 0 genome.wustl.edu 37 1 159923336 159923336 + Missense_Mutation SNP T T A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 1 159923336 159923336 T A SNP SLAMF9 ENST00000368093 human ensembl 69_37n -1 known missense c.154 p.N52Y 0.000 pfam_Ig_V-set pfam_Ig_V-set,pfscan_Ig-like - no_errors SLAMF9 HGNC ENSG00000162723 52 0 0.00 93 14 13.08 - - - SLC25A48 0 genome.wustl.edu 37 5 135223721 135223721 + Missense_Mutation SNP G G T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 5 135223721 135223721 G T SNP SLC25A48 ENST00000412661 human ensembl 69_37n +1 known missense c.422 p.G141V 0.001 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A48 HGNC ENSG00000145832 160 0 0.00 125 43 25.60 - - - SLC25A48 0 genome.wustl.edu 37 5 135223721 135223721 + Missense_Mutation SNP G G T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 5 135223721 135223721 G T SNP SLC25A48 ENST00000412661 human ensembl 69_37n +1 known missense c.422 p.G141V 0.001 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A48 HGNC ENSG00000145832 89 0 0.00 125 43 25.60 - - - SLC37A1 0 genome.wustl.edu 37 21 43988519 43988519 + Missense_Mutation SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 21 43988519 43988519 C T SNP SLC37A1 ENST00000352133 human ensembl 69_37n +1 known missense c.1394 p.T465M 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A1 HGNC ENSG00000160190 73 0 0.00 48 20 29.41 - - - SMURF1 0 genome.wustl.edu 37 7 98645333 98645333 + Missense_Mutation SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 7 98645333 98645333 C T SNP SMURF1 ENST00000361125 human ensembl 69_37n -1 known missense c.1204 p.E402K 1.000 superfamily_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors SMURF1 HGNC ENSG00000198742 54 0 0.00 61 29 32.22 - - - SMURF1 0 genome.wustl.edu 37 7 98645333 98645333 + Missense_Mutation SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 7 98645333 98645333 C T SNP SMURF1 ENST00000361125 human ensembl 69_37n -1 known missense c.1204 p.E402K 1.000 superfamily_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors SMURF1 HGNC ENSG00000198742 53 0 0.00 61 29 32.22 - - - TOX3 0 genome.wustl.edu 37 16 52473349 52473349 + Nonsense_Mutation SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 16 52473349 52473349 G A SNP TOX3 ENST00000219746 human ensembl 69_37n -1 known nonsense c.1519 p.Q507* 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX3 HGNC ENSG00000103460 51 0 0.00 58 11 15.94 - - - TOX3 0 genome.wustl.edu 37 16 52473349 52473349 + Nonsense_Mutation SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 16 52473349 52473349 G A SNP TOX3 ENST00000219746 human ensembl 69_37n -1 known nonsense c.1519 p.Q507* 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX3 HGNC ENSG00000103460 53 0 0.00 58 11 15.94 - - - TP53 0 genome.wustl.edu 37 17 7577570 7577570 + Missense_Mutation SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 17 7577570 7577570 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.711 p.M237I 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 83 0 0.00 51 48 48.00 - - - TP53 0 genome.wustl.edu 37 17 7577570 7577570 + Missense_Mutation SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 17 7577570 7577570 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.711 p.M237I 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 65 0 0.00 51 48 48.00 - - - TTC38 0 genome.wustl.edu 37 22 46684349 46684349 + Missense_Mutation SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 22 46684349 46684349 G A SNP TTC38 ENST00000445282 human ensembl 69_37n +1 known missense c.772 p.V258I 0.046 NULL NULL - no_errors TTC38 HGNC ENSG00000075234 74 0 0.00 127 28 18.06 - - - TTC38 0 genome.wustl.edu 37 22 46684349 46684349 + Missense_Mutation SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 22 46684349 46684349 G A SNP TTC38 ENST00000445282 human ensembl 69_37n +1 known missense c.772 p.V258I 0.046 NULL NULL - no_errors TTC38 HGNC ENSG00000075234 41 0 0.00 127 28 18.06 - - - WDR87 0 genome.wustl.edu 37 19 38384389 38384389 + Missense_Mutation SNP C C A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 19 38384389 38384389 C A SNP WDR87 ENST00000447313 human ensembl 69_37n -1 known missense c.1954 p.V652F 0.531 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 53 0 0.00 59 12 16.90 - - - WDR87 0 genome.wustl.edu 37 19 38384389 38384389 + Missense_Mutation SNP C C A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 19 38384389 38384389 C A SNP WDR87 ENST00000447313 human ensembl 69_37n -1 known missense c.1954 p.V652F 0.531 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 19 0 0.00 59 12 16.90 - - - ZNF704 0 genome.wustl.edu 37 8 81553683 81553683 + Missense_Mutation SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 8 81553683 81553683 C T SNP ZNF704 ENST00000327835 human ensembl 69_37n -1 known missense c.1157 p.R386Q 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF704 HGNC ENSG00000164684 148 0 0.00 205 35 14.58 - - - ZNF704 0 genome.wustl.edu 37 8 81553683 81553683 + Missense_Mutation SNP C C T TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-11A-43D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 727808a9-5f85-47b1-ad15-2f6bb5a231dd 8 81553683 81553683 C T SNP ZNF704 ENST00000327835 human ensembl 69_37n -1 known missense c.1157 p.R386Q 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF704 HGNC ENSG00000164684 137 0 0.00 205 35 14.58 - - - ZNF783 0 genome.wustl.edu 37 7 148990933 148990933 + Missense_Mutation SNP G G A TCGA-A7-A4SD-01A-11D-A25Q-09 TCGA-A7-A4SD-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2afa9f1e-e155-41ea-9284-baca6943f237 183446dc-6ca8-4d0d-ad38-73b34d833ba4 7 148990933 148990933 G A SNP ZNF783 ENST00000481519 human ensembl 69_37n +1 known missense c.634 p.G212S 0.010 NULL NULL - no_errors ZNF783 HGNC ENSG00000204946 22 0 0.00 26 4 13.33 - - -