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 ABCA12 0 genome.wustl.edu 37 2 215818665 215818665 + Missense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 2 215818665 215818665 C T SNP ABCA12 ENST00000272895 human ensembl 69_37n -1 known missense c.6560 p.G2187D 0.999 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 32 0 0.00 17 4 19.05 - - - ABCA6 0 genome.wustl.edu 37 17 67119401 67119401 + Missense_Mutation SNP A A C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 17 67119401 67119401 A C SNP ABCA6 ENST00000284425 human ensembl 69_37n -1 known missense c.1415 p.F472C 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 33 0 0.00 27 4 12.90 - - - ABCB1 0 genome.wustl.edu 37 7 87214944 87214944 + Missense_Mutation SNP G G C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 7 87214944 87214944 G C SNP ABCB1 ENST00000265724 human ensembl 69_37n -1 known missense c.170 p.A57G 0.942 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ENSG00000085563 34 0 0.00 21 7 25.00 - - - ADAM5 0 genome.wustl.edu 37 8 39181728 39181728 + RNA SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 8 39181728 39181728 C T SNP ADAM5 ENST00000359790 human ensembl 69_37n +1 known rna NULL NULL 0.976 - - - no_errors ADAM5 HGNC ENSG00000196115 35 0 0.00 36 6 14.29 - - - ADAM7 0 genome.wustl.edu 37 8 24324444 24324444 + Missense_Mutation SNP T T G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 8 24324444 24324444 T G SNP ADAM7 ENST00000175238 human ensembl 69_37n +1 known missense c.522 p.N174K 0.826 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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 51 0 0.00 46 9 16.36 - - - ADAM9 0 genome.wustl.edu 37 8 38913139 38913139 + Missense_Mutation SNP G G T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 8 38913139 38913139 G T SNP ADAM9 ENST00000487273 human ensembl 69_37n +1 known missense c.1439 p.C480F 1.000 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin 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 - no_errors ADAM9 HGNC ENSG00000168615 81 0 0.00 78 15 16.13 - - - ADAMTS7 0 genome.wustl.edu 37 15 79051801 79051801 + Missense_Mutation SNP C C A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 15 79051801 79051801 C A SNP ADAMTS7 ENST00000388820 human ensembl 69_37n -1 known missense c.5023 p.A1675S 0.001 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 14 0 0.00 4 5 55.56 - - - ADGB 0 genome.wustl.edu 37 6 147122366 147122366 + Nonsense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 6 147122366 147122366 C T SNP ADGB ENST00000397944 human ensembl 69_37n +1 known nonsense c.4585 p.R1529* 0.273 NULL pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat - no_errors ADGB HGNC ENSG00000118492 33 0 0.00 23 6 20.69 - - - AGAP1 0 genome.wustl.edu 37 2 236761396 236761396 + Missense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 2 236761396 236761396 C T SNP AGAP1 ENST00000409457 human ensembl 69_37n +1 novel missense c.1117 p.R373C 0.903 NULL pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 46 0 0.00 26 4 13.33 - - - AGAP8 0 genome.wustl.edu 37 10 51225623 51225623 + Silent SNP A A G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 10 51225623 51225623 A G SNP AGAP8 ENST00000425119 human ensembl 69_37n -1 known silent c.1359 p.N453 0.990 pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP8 HGNC ENSG00000174194 31 0 0.00 12 4 25.00 - - - AHNAK 0 genome.wustl.edu 37 11 62293880 62293880 + Missense_Mutation SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 11 62293880 62293880 G A SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.8009 p.S2670L 0.127 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 125 0 0.00 61 24 28.24 - - - AHNAK2 0 genome.wustl.edu 37 14 105412344 105412344 + Silent SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 14 105412344 105412344 G A SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known silent c.9444 p.F3148 0.771 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 122 0 0.00 47 12 20.34 - - - ALG13 0 genome.wustl.edu 37 X 110964851 110964851 + Silent SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d X 110964851 110964851 G A SNP ALG13 ENST00000251943 human ensembl 69_37n +1 known silent c.1035 p.K345 1.000 NULL pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 64 0 0.00 41 20 32.79 - - - ALS2CR11 0 genome.wustl.edu 37 2 202402194 202402194 + Missense_Mutation SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 2 202402194 202402194 G A SNP ALS2CR11 ENST00000286195 human ensembl 69_37n -1 known missense c.1171 p.L391F 0.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors ALS2CR11 HGNC ENSG00000155754 144 0 0.00 79 24 23.08 - - - ARL11 0 genome.wustl.edu 37 13 50206328 50206328 + RNA SNP G G C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 13 50206328 50206328 G C SNP ARL11 ENST00000490932 human ensembl 69_37n +1 known rna NULL NULL 0.039 - - - no_errors ARL11 HGNC ENSG00000152213 21 0 0.00 11 3 21.43 - - - ATAD3A 0 genome.wustl.edu 37 1 1447922 1447922 + Missense_Mutation SNP C C G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 1 1447922 1447922 C G SNP ATAD3A ENST00000339113 human ensembl 69_37n +1 known missense c.13 p.P5A 0.003 NULL pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATAD3A HGNC ENSG00000197785 10 0 0.00 7 4 36.36 - - - ATP6V1B1 0 genome.wustl.edu 37 2 71189937 71189937 + Silent SNP G G T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 2 71189937 71189937 G T SNP ATP6V1B1 ENST00000234396 human ensembl 69_37n +1 known silent c.816 p.A272 0.868 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 31 0 0.00 29 10 25.64 - - - BCR 0 genome.wustl.edu 37 22 23654993 23654993 + RNA SNP A A G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 22 23654993 23654993 A G SNP BCR ENST00000458056 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors BCR HGNC ENSG00000186716 77 0 0.00 48 6 11.11 - - - BLMH 0 genome.wustl.edu 37 17 28612499 28612499 + Splice_Site SNP C C G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 17 28612499 28612499 C G SNP BLMH ENST00000261714 human ensembl 69_37n -1 known splice_site c.553-1 e6-1 1.000 - - - no_errors BLMH HGNC ENSG00000108578 61 0 0.00 63 12 16.00 - - - BPGM 0 genome.wustl.edu 37 7 134346825 134346825 + Missense_Mutation SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 7 134346825 134346825 G A SNP BPGM ENST00000344924 human ensembl 69_37n +1 known missense c.566 p.G189E 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors BPGM HGNC ENSG00000172331 39 0 0.00 17 11 39.29 - - - C20orf160 0 genome.wustl.edu 37 20 30605928 30605928 + Silent SNP G G T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 20 30605928 30605928 G T SNP C20orf160 ENST00000300415 human ensembl 69_37n +1 known silent c.429 p.L143 1.000 NULL NULL - no_errors C20orf160 HGNC ENSG00000101331 15 0 0.00 31 11 26.19 - - - C3orf49 0 genome.wustl.edu 37 3 63817430 63817430 + Missense_Mutation SNP G G C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 3 63817430 63817430 G C SNP C3orf49 ENST00000295896 human ensembl 69_37n +1 known missense c.759 p.Q253H 1.000 NULL NULL - no_errors C3orf49 HGNC ENSG00000163632 45 0 0.00 35 4 10.26 - - - C8orf31 0 genome.wustl.edu 37 8 144126072 144126072 + Missense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 8 144126072 144126072 C T SNP C8orf31 ENST00000395172 human ensembl 69_37n +1 known missense c.193 p.P65S 0.007 NULL NULL - no_errors C8orf31 HGNC ENSG00000177335 28 0 0.00 33 11 25.00 - - - CCM2 0 genome.wustl.edu 37 7 45115773 45115773 + RNA SNP T T C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 7 45115773 45115773 T C SNP CCM2 ENST00000461377 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CCM2 HGNC ENSG00000136280 53 0 0.00 41 5 10.64 - - - CD200R1 0 genome.wustl.edu 37 3 112648230 112648230 + Missense_Mutation SNP T T A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 3 112648230 112648230 T A SNP CD200R1 ENST00000308611 human ensembl 69_37n -1 known missense c.327 p.K109N 0.000 NULL pfam_CD80_C2-set,pfscan_Ig-like - no_errors CD200R1 HGNC ENSG00000163606 52 0 0.00 56 7 11.11 - - - CDC42BPA 0 genome.wustl.edu 37 1 227221077 227221077 + Missense_Mutation SNP A A T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 1 227221077 227221077 A T SNP CDC42BPA ENST00000334218 human ensembl 69_37n -1 known missense c.3411 p.D1137E 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPA HGNC ENSG00000143776 33 0 0.00 14 43 75.44 - - - CNKSR2 0 genome.wustl.edu 37 X 21670489 21670489 + Missense_Mutation SNP A A C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d X 21670489 21670489 A C SNP CNKSR2 ENST00000379510 human ensembl 69_37n +1 known missense c.2955 p.E985D 1.000 NULL pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 75 0 0.00 63 15 19.23 - - - CNTN6 0 genome.wustl.edu 37 3 1445058 1445058 + Missense_Mutation SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 3 1445058 1445058 G A SNP CNTN6 ENST00000350110 human ensembl 69_37n +1 known missense c.3043 p.V1015I 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN6 HGNC ENSG00000134115 53 0 0.00 36 12 25.00 - - - COL18A1 0 genome.wustl.edu 37 21 46925149 46925149 + Silent SNP A A C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 21 46925149 46925149 A C SNP COL18A1 ENST00000359759 human ensembl 69_37n +1 known silent c.4215 p.P1405 0.498 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 24 0 0.00 2 8 80.00 - - - CYP24A1 0 genome.wustl.edu 37 20 52774666 52774666 + Missense_Mutation SNP C C G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 20 52774666 52774666 C G SNP CYP24A1 ENST00000216862 human ensembl 69_37n -1 known missense c.1195 p.D399H 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP24A1 HGNC ENSG00000019186 17 0 0.00 28 6 17.65 - - - DAPL1 0 genome.wustl.edu 37 2 159719127 159719127 + Silent SNP T T C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 2 159719127 159719127 T C SNP DAPL1 ENST00000343761 human ensembl 69_37n +1 putative silent c.432 p.H144 0.092 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DAPL1 HGNC ENSG00000163331 74 0 0.00 36 4 10.00 - - - DCDC1 0 genome.wustl.edu 37 11 31327864 31327864 + Missense_Mutation SNP A A C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 11 31327864 31327864 A C SNP DCDC1 ENST00000452803 human ensembl 69_37n -1 known missense c.506 p.L169R 0.001 superfamily_Doublecortin_dom superfamily_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC1 HGNC ENSG00000188682 40 0 0.00 33 8 19.51 - - - DCDC2C 0 genome.wustl.edu 37 2 3817000 3817000 + Missense_Mutation SNP A A G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 2 3817000 3817000 A G SNP DCDC2C ENST00000399143 human ensembl 69_37n +1 known missense c.449 p.Q150R 0.999 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,pfscan_Doublecortin_dom - no_start_codon:no_stop_codon DCDC2C HGNC ENSG00000214866 61 0 0.00 50 13 20.63 - - - DCSTAMP 0 genome.wustl.edu 37 8 105361290 105361290 + Silent SNP C C A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 8 105361290 105361290 C A SNP DCSTAMP ENST00000297581 human ensembl 69_37n +1 known silent c.510 p.T170 0.000 NULL pfam_DC_STAMP-like,superfamily_ABC_transptrTM_dom_typ1 - no_errors DCSTAMP HGNC ENSG00000164935 31 0 0.00 37 6 13.95 - - - DHRS4L2 0 genome.wustl.edu 37 14 24470241 24470241 + Splice_Site SNP G G C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 14 24470241 24470241 G C SNP DHRS4L2 ENST00000382755 human ensembl 69_37n +1 known splice_site c.474-1 e5-1 0.969 - - - no_errors DHRS4L2 HGNC ENSG00000187630 37 0 0.00 41 6 12.77 - - - DLX6 0 genome.wustl.edu 37 7 96635448 96635450 + In_Frame_Del DEL GCA GCA - TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 7 96635448 96635450 GCA - DEL DLX6 ENST00000518156 human ensembl 69_37n +1 known in_frame_del c.159_161 p.Q54in_frame_del 0.992:0.996:0.995 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeodomain - no_errors DLX6 HGNC ENSG00000006377 20 0 0.00 6 3 33.33 - - - DOCK11 0 genome.wustl.edu 37 X 117809965 117809965 + Missense_Mutation SNP A A C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d X 117809965 117809965 A C SNP DOCK11 ENST00000276202 human ensembl 69_37n +1 known missense c.5266 p.K1756Q 0.971 NULL pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 90 0 0.00 67 27 28.72 - - - EXOSC5 0 genome.wustl.edu 37 19 41897822 41897822 + Missense_Mutation SNP T T A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 19 41897822 41897822 T A SNP EXOSC5 ENST00000221233 human ensembl 69_37n -1 known missense c.308 p.E103V 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC5 HGNC ENSG00000077348 34 0 0.00 21 10 32.26 - - - EYA4 0 genome.wustl.edu 37 6 133846230 133846230 + Missense_Mutation SNP G G C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 6 133846230 133846230 G C SNP EYA4 ENST00000355167 human ensembl 69_37n +1 known missense c.1816 p.D606H 1.000 superfamily_HAD-like_dom,tigrfam_EYA pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 72 0 0.00 43 11 20.37 - - - FAM185A 0 genome.wustl.edu 37 7 102427889 102427889 + Missense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 7 102427889 102427889 C T SNP FAM185A ENST00000413034 human ensembl 69_37n +1 known missense c.1039 p.R347C 0.001 NULL NULL - no_errors FAM185A HGNC ENSG00000222011 79 0 0.00 72 10 12.20 - - - FAM21A 0 genome.wustl.edu 37 10 51853633 51853633 + Missense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 10 51853633 51853633 C T SNP FAM21A ENST00000282633 human ensembl 69_37n +1 known missense c.1136 p.T379M 0.370 NULL NULL - no_errors FAM21A HGNC ENSG00000099290 14 0 0.00 10 4 28.57 - - - FAM47B 0 genome.wustl.edu 37 X 34962126 34962126 + Missense_Mutation SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d X 34962126 34962126 G A SNP FAM47B ENST00000329357 human ensembl 69_37n +1 known missense c.1178 p.R393Q 0.001 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 43 0 0.00 18 27 58.70 - - - FAM71F1 0 genome.wustl.edu 37 7 128364895 128364895 + RNA SNP A A G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 7 128364895 128364895 A G SNP FAM71F1 ENST00000469348 human ensembl 69_37n +1 known rna NULL NULL 0.009 - - - no_errors FAM71F1 HGNC ENSG00000135248 14 0 0.00 11 5 31.25 - - - FAM75A6 0 genome.wustl.edu 37 9 43626751 43626751 + Missense_Mutation SNP C C G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 9 43626751 43626751 C G SNP FAM75A6 ENST00000332857 human ensembl 69_37n -1 known missense c.1936 p.G646R 0.001 NULL NULL - no_errors FAM75A6 HGNC ENSG00000185775 110 1 0.90 115 22 16.06 - - - FLI1 0 genome.wustl.edu 37 11 128680489 128680489 + Missense_Mutation SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 11 128680489 128680489 G A SNP FLI1 ENST00000429175 human ensembl 69_37n +1 known missense c.965 p.G322D 1.000 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors FLI1 HGNC ENSG00000151702 28 0 0.00 6 13 68.42 - - - FMO3 0 genome.wustl.edu 37 1 171086310 171086310 + Missense_Mutation SNP G G T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 1 171086310 171086310 G T SNP FMO3 ENST00000367755 human ensembl 69_37n +1 known missense c.1327 p.A443S 0.110 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_2 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO3 HGNC ENSG00000007933 39 0 0.00 52 9 14.75 - - - FREM3 0 genome.wustl.edu 37 4 144619797 144619797 + Missense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 4 144619797 144619797 C T SNP FREM3 ENST00000329798 human ensembl 69_37n -1 putative missense c.2032 p.D678N 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 82 0 0.00 44 17 27.87 - - - FSIP2 0 genome.wustl.edu 37 2 186664963 186664963 + Missense_Mutation SNP C C A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 2 186664963 186664963 C A SNP FSIP2 ENST00000343098 human ensembl 69_37n +1 known missense c.11197 p.L3733I 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 53 0 0.00 28 7 20.00 - - - FSIP2 0 genome.wustl.edu 37 2 186665824 186665824 + Missense_Mutation SNP A A G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 2 186665824 186665824 A G SNP FSIP2 ENST00000343098 human ensembl 69_37n +1 known missense c.12058 p.N4020D 0.997 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 23 0 0.00 13 7 35.00 - - - GABRB2 0 genome.wustl.edu 37 5 160886759 160886759 + Missense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 5 160886759 160886759 C T SNP GABRB2 ENST00000274547 human ensembl 69_37n -1 known missense c.329 p.R110K 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel - no_errors GABRB2 HGNC ENSG00000145864 49 0 0.00 27 13 32.50 - - - GLI1 0 genome.wustl.edu 37 12 57865641 57865641 + Missense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 12 57865641 57865641 C T SNP GLI1 ENST00000228682 human ensembl 69_37n +1 known missense c.3118 p.L1040F 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 54 0 0.00 28 5 15.15 - - - GOLGA6L2 0 genome.wustl.edu 37 15 23685625 23685625 + Missense_Mutation SNP T T C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 15 23685625 23685625 T C SNP GOLGA6L2 ENST00000567107 human ensembl 69_37n -1 putative missense c.1997 p.E666G 0.002 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 103 1 0.96 48 6 10.71 - - - GPR37 0 genome.wustl.edu 37 7 124404828 124404828 + Missense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 7 124404828 124404828 C T SNP GPR37 ENST00000303921 human ensembl 69_37n -1 known missense c.203 p.R68Q 0.001 NULL pfam_7TM_GPCR_Rhodpsn,prints_GPR37_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR37 HGNC ENSG00000170775 54 0 0.00 39 13 25.00 - - - GPR98 0 genome.wustl.edu 37 5 89925087 89925087 + Missense_Mutation SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 5 89925087 89925087 G A SNP GPR98 ENST00000405460 human ensembl 69_37n +1 known missense c.1570 p.E524K 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 27 0 0.00 28 8 22.22 - - - GPRASP1 0 genome.wustl.edu 37 X 101911239 101911239 + Nonsense_Mutation SNP G G T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d X 101911239 101911239 G T SNP GPRASP1 ENST00000361600 human ensembl 69_37n +1 known nonsense c.2398 p.E800* 0.001 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 51 0 0.00 33 7 17.50 - - - GRB14 0 genome.wustl.edu 37 2 165424837 165424837 + Silent SNP A A G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 2 165424837 165424837 A G SNP GRB14 ENST00000543549 human ensembl 69_37n -1 known silent c.51 p.I17 0.999 NULL pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC ENSG00000115290 53 0 0.00 30 4 11.76 - - - GRIN2A 0 genome.wustl.edu 37 16 9858054 9858054 + Missense_Mutation SNP T T G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 16 9858054 9858054 T G SNP GRIN2A ENST00000330684 human ensembl 69_37n -1 known missense c.3347 p.K1116T 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,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 GRIN2A HGNC ENSG00000183454 41 0 0.00 12 4 25.00 - - - GRIN3A 0 genome.wustl.edu 37 9 104449360 104449360 + Missense_Mutation SNP C C A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 9 104449360 104449360 C A SNP GRIN3A ENST00000361820 human ensembl 69_37n -1 known missense c.822 p.W274C 1.000 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 39 0 0.00 26 5 16.13 - - - GRIPAP1 0 genome.wustl.edu 37 X 48839761 48839761 + Missense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d X 48839761 48839761 C T SNP GRIPAP1 ENST00000376441 human ensembl 69_37n -1 known missense c.1364 p.R455H 0.002 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 60 0 0.00 25 15 37.50 - - - GRM3 0 genome.wustl.edu 37 7 86415916 86415916 + Missense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 7 86415916 86415916 C T SNP GRM3 ENST00000361669 human ensembl 69_37n +1 known missense c.808 p.R270C 0.985 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C - no_errors GRM3 HGNC ENSG00000198822 25 0 0.00 13 7 35.00 - - - HAUS5 0 genome.wustl.edu 37 19 36110619 36110619 + Silent SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 19 36110619 36110619 C T SNP HAUS5 ENST00000203166 human ensembl 69_37n +1 known silent c.1365 p.P455 0.008 NULL NULL - no_errors HAUS5 HGNC ENSG00000249115 26 0 0.00 5 3 37.50 - - - HUWE1 0 genome.wustl.edu 37 X 53563167 53563167 + Missense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d X 53563167 53563167 C T SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known missense c.12472 p.V4158I 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 42 0 0.00 33 14 29.79 - - - ILDR2 0 genome.wustl.edu 37 1 166904565 166904565 + Missense_Mutation SNP T T G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 1 166904565 166904565 T G SNP ILDR2 ENST00000271417 human ensembl 69_37n -1 known missense c.853 p.S285R 1.000 NULL pfam_LISCH7,smart_Ig_sub - no_errors ILDR2 HGNC ENSG00000143195 35 0 0.00 34 8 18.60 - - - IQCA1P1 0 genome.wustl.edu 37 7 150893629 150893629 + RNA SNP T T C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 7 150893629 150893629 T C SNP IQCA1P1 ENST00000453127 human ensembl 69_37n -1 known rna NULL NULL 0.871 - - - no_errors IQCA1P1 HGNC ENSG00000183016 59 0 0.00 36 5 12.20 - - - ITGB2 0 genome.wustl.edu 37 21 46328026 46328026 + Silent SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 21 46328026 46328026 G A SNP ITGB2 ENST00000520389 human ensembl 69_37n -1 known silent c.219 p.P73 0.004 NULL superfamily_Plexin-like_fold - no_errors ITGB2 HGNC ENSG00000160255 52 0 0.00 49 6 10.71 - - - KIAA1462 0 genome.wustl.edu 37 10 30317873 30317873 + Missense_Mutation SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 10 30317873 30317873 G A SNP KIAA1462 ENST00000375377 human ensembl 69_37n -1 known missense c.1204 p.R402C 0.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 30 0 0.00 15 7 31.82 - - - KIF26B 0 genome.wustl.edu 37 1 245849196 245849196 + Missense_Mutation SNP G G C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 1 245849196 245849196 G C SNP KIF26B ENST00000407071 human ensembl 69_37n +1 known missense c.2911 p.A971P 0.207 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 38 0 0.00 51 9 15.00 - - - KRT16P3 0 genome.wustl.edu 37 17 20405802 20405802 + RNA SNP T T C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 17 20405802 20405802 T C SNP KRT16P3 ENST00000580621 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors KRT16P3 HGNC ENSG00000214822 46 0 0.00 21 3 12.50 - - - LAMA2 0 genome.wustl.edu 37 6 129612789 129612789 + Missense_Mutation SNP C C G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 6 129612789 129612789 C G SNP LAMA2 ENST00000421865 human ensembl 69_37n +1 known missense c.2780 p.S927C 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 34 0 0.00 23 5 17.86 - - - LAMA2 0 genome.wustl.edu 37 6 129612819 129612819 + Missense_Mutation SNP G G C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 6 129612819 129612819 G C SNP LAMA2 ENST00000421865 human ensembl 69_37n +1 known missense c.2810 p.C937S 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 35 0 0.00 17 4 19.05 - - - LRCH2 0 genome.wustl.edu 37 X 114419069 114419069 + Missense_Mutation SNP G G T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d X 114419069 114419069 G T SNP LRCH2 ENST00000317135 human ensembl 69_37n -1 known missense c.526 p.L176I 0.987 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC ENSG00000130224 69 0 0.00 86 15 14.71 - - - LRRC37A 0 genome.wustl.edu 37 17 44374710 44374710 + Silent SNP A A G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 17 44374710 44374710 A G SNP LRRC37A ENST00000320254 human ensembl 69_37n +1 known silent c.2211 p.P737 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A HGNC ENSG00000176681 30 0 0.00 25 7 21.88 - - - LRRC63 0 genome.wustl.edu 37 13 46802177 46802177 + Missense_Mutation SNP A A G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 13 46802177 46802177 A G SNP LRRC63 ENST00000446175 human ensembl 69_37n +1 known missense c.616 p.M206V 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC63 HGNC ENSG00000173988 37 0 0.00 24 4 13.79 - - - LY9 0 genome.wustl.edu 37 1 160769718 160769718 + Silent SNP C C G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 1 160769718 160769718 C G SNP LY9 ENST00000263285 human ensembl 69_37n +1 known silent c.300 p.V100 0.003 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like - no_errors LY9 HGNC ENSG00000122224 38 0 0.00 52 10 16.13 - - - MAGEE1 0 genome.wustl.edu 37 X 75650039 75650039 + Silent SNP A A G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d X 75650039 75650039 A G SNP MAGEE1 ENST00000361470 human ensembl 69_37n +1 known silent c.1716 p.L572 0.013 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 53 0 0.00 31 14 31.11 - - - MAST1 0 genome.wustl.edu 37 19 12969421 12969421 + Missense_Mutation SNP C C A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 19 12969421 12969421 C A SNP MAST1 ENST00000251472 human ensembl 69_37n +1 known missense c.1234 p.L412I 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC ENSG00000105613 41 0 0.00 17 6 26.09 - - - MCF2L 0 genome.wustl.edu 37 13 113708697 113708697 + RNA SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 13 113708697 113708697 C T SNP MCF2L ENST00000494043 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors MCF2L HGNC ENSG00000126217 51 0 0.00 40 5 11.11 - - - MEIS1 0 genome.wustl.edu 37 2 66667033 66667033 + Missense_Mutation SNP A A C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 2 66667033 66667033 A C SNP MEIS1 ENST00000407092 human ensembl 69_37n +1 known missense c.298 p.T100P 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS1 HGNC ENSG00000143995 41 0 0.00 15 18 51.43 - - - MIEN1 0 genome.wustl.edu 37 17 37885932 37885935 + Frame_Shift_Del DEL ACTC ACTC - TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 ACTC ACTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 17 37885932 37885935 ACTC - DEL MIEN1 ENST00000577810 human ensembl 69_37n -1 putative frame_shift_del c.270_267 p.S90fs 0.998:1.000:1.000:1.000 NULL pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ - no_errors MIEN1 HGNC ENSG00000141741 46 0 0.00 51 7 11.86 - - - MIR25 0 genome.wustl.edu 37 7 99691263 99691263 + RNA SNP G G T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 7 99691263 99691263 G T SNP MIR25 ENST00000384816 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors MIR25 HGNC ENSG00000207547 31 0 0.00 37 9 19.15 - - - MUC15 0 genome.wustl.edu 37 11 26587134 26587134 + Missense_Mutation SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 11 26587134 26587134 G A SNP MUC15 ENST00000436318 human ensembl 69_37n -1 known missense c.353 p.S118L 0.000 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 71 0 0.00 31 7 18.42 - - - MUC19 0 genome.wustl.edu 37 12 40825459 40825459 + Missense_Mutation SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 12 40825459 40825459 G A SNP MUC19 ENST00000425730 human ensembl 69_37n +1 novel missense c.1499 p.R500H 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_VWC_out,smart_Unchr_dom_Cys-rich - no_stop_codon:bad_bp_length_for_coding_region MUC19 HGNC ENSG00000205592 29 0 0.00 23 9 28.12 - - - NBPF10 0 genome.wustl.edu 37 1 145323656 145323656 + Missense_Mutation SNP A A T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 1 145323656 145323656 A T SNP NBPF10 ENST00000342960 human ensembl 69_37n +1 known missense c.3493 p.I1165F 0.007 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 76 0 0.00 76 14 15.56 - - - NCAN 0 genome.wustl.edu 37 19 19359553 19359553 + Missense_Mutation SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 19 19359553 19359553 G A SNP NCAN ENST00000252575 human ensembl 69_37n +1 known missense c.3682 p.G1228S 0.995 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like - no_errors NCAN HGNC ENSG00000130287 39 0 0.00 12 5 29.41 - - - NGLY1 0 genome.wustl.edu 37 3 25770771 25770771 + Silent SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 3 25770771 25770771 C T SNP NGLY1 ENST00000280700 human ensembl 69_37n -1 known silent c.1464 p.K488 0.994 superfamily_Galactose-bd-like,smart_Peptide_N_glycanase_PAW_dom pfam_PUB_domain,pfam_Transglutaminase-like,pfam_Rad4/PNGase_transGLS-fold,pfam_Peptide_N_glycanase_PAW_dom,superfamily_Galactose-bd-like,smart_PUG-dom,smart_Transglutaminase-like,smart_Peptide_N_glycanase_PAW_dom - no_errors NGLY1 HGNC ENSG00000151092 39 0 0.00 29 5 14.71 - - - NOX1 0 genome.wustl.edu 37 X 100105271 100105271 + Missense_Mutation SNP G G T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d X 100105271 100105271 G T SNP NOX1 ENST00000427768 human ensembl 69_37n -1 known missense c.55 p.P19T 0.610 pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_FAD-bd_8,pfam_Fe_red_NAD-bd_6,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NOX1 HGNC ENSG00000007952 44 0 0.00 15 30 66.67 - - - ODF2 0 genome.wustl.edu 37 9 131260563 131260563 + RNA SNP T T C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 9 131260563 131260563 T C SNP ODF2 ENST00000488909 human ensembl 69_37n +1 known rna NULL NULL 0.555 - - - no_errors ODF2 HGNC ENSG00000136811 22 0 0.00 13 3 18.75 - - - OR2J1 0 genome.wustl.edu 37 6 29069016 29069016 + Silent SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 6 29069016 29069016 G A SNP OR2J1 ENST00000377171 human ensembl 69_37n +1 known silent c.297 p.T99 0.016 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2J1 HGNC ENSG00000204702 107 0 0.00 61 7 10.29 - - - OR2J1 0 genome.wustl.edu 37 6 29069299 29069299 + Nonsense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 6 29069299 29069299 C T SNP OR2J1 ENST00000377171 human ensembl 69_37n +1 known nonsense c.580 p.Q194* 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2J1 HGNC ENSG00000204702 115 0 0.00 85 10 10.42 - - - OR3A4P 0 genome.wustl.edu 37 17 3214016 3214016 + RNA SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 17 3214016 3214016 C T SNP OR3A4P ENST00000323164 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors OR3A4P HGNC ENSG00000180068 82 0 0.00 15 27 64.29 - - - OR5L2 0 genome.wustl.edu 37 11 55594726 55594726 + Missense_Mutation SNP A A G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 11 55594726 55594726 A G SNP OR5L2 ENST00000378397 human ensembl 69_37n +1 known missense c.32 p.E11G 0.020 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 63 0 0.00 56 7 11.11 - - - OR6X1 0 genome.wustl.edu 37 11 123624976 123624976 + Missense_Mutation SNP A A C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 11 123624976 123624976 A C SNP OR6X1 ENST00000327930 human ensembl 69_37n -1 known missense c.251 p.V84G 0.905 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6X1 HGNC ENSG00000221931 70 0 0.00 56 8 12.50 - - - PAM 0 genome.wustl.edu 37 5 102355495 102355495 + Missense_Mutation SNP A A C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 5 102355495 102355495 A C SNP PAM ENST00000304400 human ensembl 69_37n +1 known missense c.2433 p.K811N 0.999 NULL pfam_NHL_repeat,pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase - no_errors PAM HGNC ENSG00000145730 31 0 0.00 28 7 20.00 - - - PAOX 0 genome.wustl.edu 37 10 135193582 135193582 + Silent SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 10 135193582 135193582 C T SNP PAOX ENST00000278060 human ensembl 69_37n +1 known silent c.261 p.Y87 0.804 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors PAOX HGNC ENSG00000148832 151 0 0.00 33 30 47.62 - - - PAPPA 0 genome.wustl.edu 37 9 119097240 119097240 + Missense_Mutation SNP C C A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 9 119097240 119097240 C A SNP PAPPA ENST00000328252 human ensembl 69_37n +1 known missense c.3498 p.F1166L 1.000 NULL pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 21 0 0.00 15 5 25.00 - - - PHC2 0 genome.wustl.edu 37 1 33837947 33837947 + Silent SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 1 33837947 33837947 C T SNP PHC2 ENST00000419414 human ensembl 69_37n -1 known silent c.276 p.A92 0.134 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 49 0 0.00 44 13 22.81 - - - PHLPP2 0 genome.wustl.edu 37 16 71715711 71715711 + Missense_Mutation SNP T T C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 16 71715711 71715711 T C SNP PHLPP2 ENST00000356272 human ensembl 69_37n -1 known missense c.833 p.N278S 1.000 NULL pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like - no_errors PHLPP2 HGNC ENSG00000040199 46 0 0.00 10 11 52.38 - - - PIEZO1 0 genome.wustl.edu 37 16 88798229 88798229 + Missense_Mutation SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 16 88798229 88798229 G A SNP PIEZO1 ENST00000451779 human ensembl 69_37n -1 putative missense c.1628 p.P543L 0.979 NULL pfam_DUF3595 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PIEZO1 HGNC ENSG00000103335 57 0 0.00 36 16 30.77 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 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 26 0 0.00 10 34 77.27 - - - PKNOX2 0 genome.wustl.edu 37 11 125255462 125255462 + Missense_Mutation SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 11 125255462 125255462 G A SNP PKNOX2 ENST00000532623 human ensembl 69_37n +1 known missense c.103 p.A35T 0.997 NULL NULL - no_errors PKNOX2 HGNC ENSG00000165495 38 0 0.00 29 12 29.27 - - - PLCB1 0 genome.wustl.edu 37 20 8678316 8678316 + Missense_Mutation SNP A A T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 20 8678316 8678316 A T SNP PLCB1 ENST00000338037 human ensembl 69_37n +1 known missense c.1053 p.Q351H 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 71 0 0.00 60 18 23.08 - - - PLCB4 0 genome.wustl.edu 37 20 9460235 9460235 + RNA SNP A A C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 20 9460235 9460235 A C SNP PLCB4 ENST00000464199 human ensembl 69_37n +1 known rna NULL NULL 0.009 - - - no_errors PLCB4 HGNC ENSG00000101333 56 0 0.00 46 16 25.81 - - - PLEKHM1P 0 genome.wustl.edu 37 17 62811354 62811354 + RNA SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 17 62811354 62811354 C T SNP PLEKHM1P ENST00000580919 human ensembl 69_37n -1 known rna NULL NULL 0.997 - - - no_errors PLEKHM1P HGNC ENSG00000214176 53 0 0.00 50 26 34.21 - - - PNKD 0 genome.wustl.edu 37 2 219206859 219206859 + Missense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 2 219206859 219206859 C T SNP PNKD ENST00000273077 human ensembl 69_37n +1 known missense c.773 p.S258F 1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase - no_errors PNKD HGNC ENSG00000127838 67 0 0.00 53 14 20.90 - - - POTEE 0 genome.wustl.edu 37 2 131976163 131976163 + Missense_Mutation SNP A A C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 2 131976163 131976163 A C SNP POTEE ENST00000356920 human ensembl 69_37n +1 known missense c.188 p.K63T 0.032 NULL pfam_Actin-like,pfam_Ankyrin_rpt,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors AC131180.1 Clone_based_ensembl_gene ENSG00000188219 196 0 0.00 110 13 10.40 - - - PPFIA2 0 genome.wustl.edu 37 12 81688618 81688618 + Missense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 12 81688618 81688618 C T SNP PPFIA2 ENST00000549396 human ensembl 69_37n -1 known missense c.2921 p.R974Q 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 40 0 0.00 20 8 28.57 - - - PSG11 0 genome.wustl.edu 37 19 43519282 43519282 + Missense_Mutation SNP G G T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 19 43519282 43519282 G T SNP PSG11 ENST00000320078 human ensembl 69_37n -1 known missense c.950 p.T317K 0.001 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG11 HGNC ENSG00000243130 176 0 0.00 47 46 49.46 - - - RBMX 0 genome.wustl.edu 37 X 135960146 135960147 + Frame_Shift_Ins INS - - AA TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d X 135960146 135960147 - AA INS RBMX ENST00000320676 human ensembl 69_37n -1 known frame_shift_ins c.316_315 p.P105fs 1.000:1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 47 0 0.00 62 7 10.14 - - - RGPD4 0 genome.wustl.edu 37 2 108499296 108499296 + Missense_Mutation SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 2 108499296 108499296 G A SNP RGPD4 ENST00000354986 human ensembl 69_37n +1 known missense c.5233 p.E1745K 1.000 pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 91 0 0.00 72 18 20.00 - - - RIMS2 0 genome.wustl.edu 37 8 104898096 104898096 + Silent SNP T T G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 8 104898096 104898096 T G SNP RIMS2 ENST00000406091 human ensembl 69_37n +1 known silent c.1269 p.S423 0.998 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 25 0 0.00 27 7 20.59 - - - RNF128 0 genome.wustl.edu 37 X 105970246 105970246 + Missense_Mutation SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d X 105970246 105970246 G A SNP RNF128 ENST00000255499 human ensembl 69_37n +1 known missense c.103 p.G35S 0.080 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 38 0 0.00 30 8 21.05 - - - RNF145 0 genome.wustl.edu 37 5 158584471 158584471 + RNA SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 5 158584471 158584471 C T SNP RNF145 ENST00000518284 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors RNF145 HGNC ENSG00000145860 32 0 0.00 11 4 26.67 - - - RNF41 0 genome.wustl.edu 37 12 56600315 56600315 + Silent SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 12 56600315 56600315 G A SNP RNF41 ENST00000345093 human ensembl 69_37n -1 known silent c.870 p.A290 1.000 pfam_USP8_interacting pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors RNF41 HGNC ENSG00000181852 39 0 0.00 12 7 36.84 - - - ROBO4 0 genome.wustl.edu 37 11 124763622 124763622 + Silent SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 11 124763622 124763622 C T SNP ROBO4 ENST00000306534 human ensembl 69_37n -1 known silent c.1509 p.L503 0.998 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 ROBO4 HGNC ENSG00000154133 58 0 0.00 31 4 11.43 - - - RYR2 0 genome.wustl.edu 37 1 237995857 237995857 + Silent SNP T T G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 1 237995857 237995857 T G SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known silent c.14832 p.S4944 0.976 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 73 0 0.00 62 8 11.43 - - - RYR3 0 genome.wustl.edu 37 15 34042201 34042201 + Missense_Mutation SNP G G C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 15 34042201 34042201 G C SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.8221 p.E2741Q 1.000 pfam_Ryanodine_rcpt,superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 54 0 0.00 25 10 28.57 - - - SCG2 0 genome.wustl.edu 37 2 224462621 224462621 + Silent SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 2 224462621 224462621 C T SNP SCG2 ENST00000305409 human ensembl 69_37n -1 known silent c.1380 p.E460 0.970 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 53 0 0.00 31 19 38.00 - - - SH2B1 0 genome.wustl.edu 37 16 28883119 28883119 + Nonsense_Mutation SNP C C G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 16 28883119 28883119 C G SNP SH2B1 ENST00000322610 human ensembl 69_37n +1 known nonsense c.1328 p.S443* 1.000 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,prints_SH2,pfscan_SH2 - no_errors SH2B1 HGNC ENSG00000178188 43 0 0.00 20 4 16.67 - - - SLC22A16 0 genome.wustl.edu 37 6 110777688 110777688 + RNA SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 6 110777688 110777688 G A SNP SLC22A16 ENST00000461487 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors SLC22A16 HGNC ENSG00000004809 42 0 0.00 22 7 24.14 - - - SLC37A2 0 genome.wustl.edu 37 11 124946652 124946652 + Splice_Site SNP G G T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 11 124946652 124946652 G T SNP SLC37A2 ENST00000308074 human ensembl 69_37n +1 known splice_site c.60-1 e2-1 1.000 - - - no_errors SLC37A2 HGNC ENSG00000134955 66 0 0.00 23 19 45.24 - - - SMURF2 0 genome.wustl.edu 37 17 62542418 62542418 + Missense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 17 62542418 62542418 C T SNP SMURF2 ENST00000262435 human ensembl 69_37n -1 known missense c.2110 p.D704N 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_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 SMURF2 HGNC ENSG00000108854 52 0 0.00 63 9 12.50 - - - SNAP91 0 genome.wustl.edu 37 6 84290235 84290235 + Missense_Mutation SNP G G C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 6 84290235 84290235 G C SNP SNAP91 ENST00000369694 human ensembl 69_37n -1 known missense c.2233 p.P745A 0.933 NULL pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 57 0 0.00 44 8 15.38 - - - SPAG16 0 genome.wustl.edu 37 2 214160807 214160807 + Silent SNP A A T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 2 214160807 214160807 A T SNP SPAG16 ENST00000331683 human ensembl 69_37n +1 known silent c.156 p.A52 0.997 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC ENSG00000144451 47 0 0.00 31 12 27.27 - - - SPEG 0 genome.wustl.edu 37 2 220356570 220356570 + Missense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 2 220356570 220356570 C T SNP SPEG ENST00000312358 human ensembl 69_37n +1 novel missense c.9440 p.A3147V 0.087 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors SPEG HGNC ENSG00000072195 24 0 0.00 6 6 50.00 - - - SRCIN1 0 genome.wustl.edu 37 17 36760753 36760753 + Missense_Mutation SNP G G T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 17 36760753 36760753 G T SNP SRCIN1 ENST00000584266 human ensembl 69_37n -1 putative missense c.103 p.P35T 0.754 NULL pfam_AIP3_C - no_stop_codon:bad_bp_length_for_coding_region SRCIN1 HGNC ENSG00000017373 46 0 0.00 34 4 10.53 - - - STPG1 0 genome.wustl.edu 37 1 24718079 24718079 + Missense_Mutation SNP C C A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 1 24718079 24718079 C A SNP STPG1 ENST00000337248 human ensembl 69_37n -1 known missense c.161 p.S54I 1.000 NULL NULL - no_errors STPG1 HGNC ENSG00000001460 80 0 0.00 50 8 13.79 - - - STX2 0 genome.wustl.edu 37 12 131297512 131297512 + Missense_Mutation SNP G G C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 12 131297512 131297512 G C SNP STX2 ENST00000344271 human ensembl 69_37n -1 known missense c.223 p.Q75E 0.987 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region STX2 HGNC ENSG00000111450 94 0 0.00 170 44 20.47 - - - SUOX 0 genome.wustl.edu 37 12 56396419 56396419 + Missense_Mutation SNP A A T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 12 56396419 56396419 A T SNP SUOX ENST00000266971 human ensembl 69_37n +1 known missense c.143 p.D48V 0.000 NULL pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5 - no_errors SUOX HGNC ENSG00000139531 18 0 0.00 18 8 30.77 - - - SZT2 0 genome.wustl.edu 37 1 43868973 43868973 + Silent SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 1 43868973 43868973 G A SNP SZT2 ENST00000562955 human ensembl 69_37n +1 known silent c.153 p.L51 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 20 0 0.00 12 3 20.00 - - - TAF1L 0 genome.wustl.edu 37 9 32631935 32631935 + Missense_Mutation SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 9 32631935 32631935 G A SNP TAF1L ENST00000242310 human ensembl 69_37n -1 known missense c.3643 p.R1215C 0.994 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 58 0 0.00 51 19 27.14 - - - TAS2R43 0 genome.wustl.edu 37 12 11244166 11244166 + Silent SNP G G C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 12 11244166 11244166 G C SNP TAS2R43 ENST00000531678 human ensembl 69_37n -1 known silent c.663 p.T221 0.185 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 26 0 0.00 24 4 14.29 - - - TBC1D14 0 genome.wustl.edu 37 4 6956059 6956059 + Missense_Mutation SNP T T C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 4 6956059 6956059 T C SNP TBC1D14 ENST00000410031 human ensembl 69_37n +1 putative missense c.32 p.M11T 0.101 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D14 HGNC ENSG00000132405 141 1 0.70 61 10 14.08 - - - TBCD 0 genome.wustl.edu 37 17 80882913 80882913 + Silent SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 17 80882913 80882913 C T SNP TBCD ENST00000355528 human ensembl 69_37n +1 known silent c.2359 p.L787 0.018 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 40 0 0.00 58 9 13.43 - - - TLL2 0 genome.wustl.edu 37 10 98170190 98170190 + Missense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 10 98170190 98170190 C T SNP TLL2 ENST00000357947 human ensembl 69_37n -1 known missense c.1090 p.A364T 0.997 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL2 HGNC ENSG00000095587 48 0 0.00 38 10 20.83 - - - TP53 0 genome.wustl.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 17 7577121 7577121 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.817 p.R273C 0.830 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 34 0 0.00 2 20 90.91 - - - TRIM49C 0 genome.wustl.edu 37 11 89774444 89774444 + Missense_Mutation SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 11 89774444 89774444 G A SNP TRIM49C ENST00000448984 human ensembl 69_37n +1 known missense c.1085 p.R362Q 0.013 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49C HGNC ENSG00000204449 154 0 0.00 89 12 11.88 - - - TRIML2 0 genome.wustl.edu 37 4 189012538 189012538 + Missense_Mutation SNP C C A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 4 189012538 189012538 C A SNP TRIML2 ENST00000512729 human ensembl 69_37n -1 known missense c.1153 p.V385F 0.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY - no_errors TRIML2 HGNC ENSG00000179046 28 0 0.00 5 6 50.00 - - - TRPC5 0 genome.wustl.edu 37 X 111095577 111095577 + Missense_Mutation SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d X 111095577 111095577 C T SNP TRPC5 ENST00000262839 human ensembl 69_37n -1 known missense c.1326 p.M442I 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 36 0 0.00 42 5 10.64 - - - TSSC2 0 genome.wustl.edu 37 11 3430168 3430168 + RNA SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 11 3430168 3430168 C T SNP TSSC2 ENST00000529482 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors TSSC2 HGNC ENSG00000223756 57 0 0.00 34 5 12.82 - - - UBE3B 0 genome.wustl.edu 37 12 109972557 109972557 + Missense_Mutation SNP C C G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 12 109972557 109972557 C G SNP UBE3B ENST00000342494 human ensembl 69_37n +1 known missense c.3177 p.I1059M 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 42 0 0.00 23 10 30.30 - - - USH2A 0 genome.wustl.edu 37 1 215914804 215914804 + Missense_Mutation SNP A A C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 1 215914804 215914804 A C SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.11624 p.L3875R 0.056 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 44 0 0.00 48 6 11.11 - - - VWCE 0 genome.wustl.edu 37 11 61058851 61058851 + Missense_Mutation SNP A A G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 11 61058851 61058851 A G SNP VWCE ENST00000535599 human ensembl 69_37n -1 known missense c.308 p.V103A 0.000 NULL NULL - no_errors VWCE HGNC ENSG00000167992 28 0 0.00 21 5 19.23 - - - WHSC1L1 0 genome.wustl.edu 37 8 38172997 38172997 + Silent SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 8 38172997 38172997 C T SNP WHSC1L1 ENST00000317025 human ensembl 69_37n -1 known silent c.2052 p.Q684 1.000 superfamily_Znf_FYVE_PHD pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 35 0 0.00 30 24 44.44 - - - WIZ 0 genome.wustl.edu 37 19 15547904 15547904 + Missense_Mutation SNP C C A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 19 15547904 15547904 C A SNP WIZ ENST00000389282 human ensembl 69_37n -1 known missense c.2309 p.R770L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 47 0 0.00 16 20 55.56 - - - XPNPEP2 0 genome.wustl.edu 37 X 128880270 128880270 + Silent SNP T T C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d X 128880270 128880270 T C SNP XPNPEP2 ENST00000371106 human ensembl 69_37n +1 known silent c.357 p.T119 1.000 pfam_Creatinase pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP2 HGNC ENSG00000122121 37 0 0.00 32 5 13.51 - - - ZAN 0 genome.wustl.edu 37 7 100392955 100392955 + Missense_Mutation SNP C C G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 7 100392955 100392955 C G SNP ZAN ENST00000546292 human ensembl 69_37n +1 known missense c.7987 p.P2663A 0.090 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 34 0 0.00 20 28 58.33 - - - ZCWPW2 0 genome.wustl.edu 37 3 28566064 28566064 + Missense_Mutation SNP A A C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 3 28566064 28566064 A C SNP ZCWPW2 ENST00000383768 human ensembl 69_37n +1 known missense c.956 p.N319T 0.007 NULL pfam_Znf_CW,pfam_PWWP,pfscan_PWWP,pfscan_Znf_CW - no_errors ZCWPW2 HGNC ENSG00000206559 64 0 0.00 30 5 14.29 - - - ZDHHC11B 0 genome.wustl.edu 37 5 712139 712139 + RNA SNP T T A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 5 712139 712139 T A SNP ZDHHC11B ENST00000522356 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ZDHHC11B HGNC ENSG00000206077 23 0 0.00 26 7 21.21 - - - ZDHHC8P1 0 genome.wustl.edu 37 22 23736213 23736213 + RNA SNP T T C TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 22 23736213 23736213 T C SNP ZDHHC8P1 ENST00000420968 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ZDHHC8P1 HGNC ENSG00000133519 56 0 0.00 19 4 17.39 - - - ZMYM3 0 genome.wustl.edu 37 X 70460278 70460278 + RNA SNP T T A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d X 70460278 70460278 T A SNP ZMYM3 ENST00000489332 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors ZMYM3 HGNC ENSG00000147130 41 0 0.00 36 12 25.00 - - - ZNF41 0 genome.wustl.edu 37 X 47307460 47307460 + Missense_Mutation SNP T T G TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d X 47307460 47307460 T G SNP ZNF41 ENST00000397050 human ensembl 69_37n -1 known missense c.1739 p.Q580P 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF41 HGNC ENSG00000147124 33 0 0.00 28 6 17.65 - - - ZNF625 0 genome.wustl.edu 37 19 12253327 12253327 + Silent SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 19 12253327 12253327 C T SNP ZNF625 ENST00000414892 human ensembl 69_37n -1 putative silent c.273 p.G91 0.998 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_start_codon ZNF625 Clone_based_vega_gene ENSG00000257591 103 0 0.00 53 7 11.67 - - - ZNF701 0 genome.wustl.edu 37 19 53086598 53086598 + Missense_Mutation SNP G G A TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 19 53086598 53086598 G A SNP ZNF701 ENST00000301093 human ensembl 69_37n +1 known missense c.1484 p.R495H 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF701 HGNC ENSG00000167562 50 0 0.00 27 4 12.90 - - - ZYG11B 0 genome.wustl.edu 37 1 53255692 53255692 + Silent SNP C C T TCGA-EW-A1PC-01B-11D-A21Q-09 TCGA-EW-A1PC-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1c0e384f-7254-4afe-93c0-b3fc6c6a7894 58ddddd4-cb14-4081-ac9f-c291dcddc24d 1 53255692 53255692 C T SNP ZYG11B ENST00000294353 human ensembl 69_37n +1 known silent c.1287 p.L429 0.973 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors ZYG11B HGNC ENSG00000162378 21 0 0.00 25 6 19.35 - - -