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 ACAA2 0 genome.wustl.edu 37 18 47329199 47329199 + Missense_Mutation SNP C C A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 18 47329199 47329199 C A SNP ACAA2 ENST00000285093 human ensembl 69_37n -1 known missense c.41 p.R14L 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA2 HGNC ENSG00000167315 149 0 0.00 119 15 11.11 - - - ACAA2 0 genome.wustl.edu 37 18 47329199 47329199 + Missense_Mutation SNP C C A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 18 47329199 47329199 C A SNP ACAA2 ENST00000285093 human ensembl 69_37n -1 known missense c.41 p.R14L 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA2 HGNC ENSG00000167315 153 0 0.00 119 15 11.11 - - - AGK 0 genome.wustl.edu 37 7 141296374 141296374 + Missense_Mutation SNP C C G TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 7 141296374 141296374 C G SNP AGK ENST00000355413 human ensembl 69_37n +1 known missense c.154 p.Q52E 1.000 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors AGK HGNC ENSG00000006530 608 2 0.33 324 63 16.28 - - - AGK 0 genome.wustl.edu 37 7 141296374 141296374 + Missense_Mutation SNP C C G TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 7 141296374 141296374 C G SNP AGK ENST00000355413 human ensembl 69_37n +1 known missense c.154 p.Q52E 1.000 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors AGK HGNC ENSG00000006530 479 0 0.00 324 63 16.28 - - - ASL 0 genome.wustl.edu 37 7 65551616 65551616 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 7 65551616 65551616 C T SNP ASL ENST00000304874 human ensembl 69_37n +1 known missense c.491 p.A164V 1.000 pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase - no_errors ASL HGNC ENSG00000126522 72 0 0.00 87 13 13.00 - - - ASL 0 genome.wustl.edu 37 7 65551616 65551616 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 7 65551616 65551616 C T SNP ASL ENST00000304874 human ensembl 69_37n +1 known missense c.491 p.A164V 1.000 pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase - no_errors ASL HGNC ENSG00000126522 72 0 0.00 87 13 13.00 - - - ATG4A 0 genome.wustl.edu 37 X 107396915 107396915 + Frame_Shift_Del DEL G G - TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 X 107396915 107396915 G - DEL ATG4A ENST00000372232 human ensembl 69_37n +1 known frame_shift_del c.1170 p.E391fs 1.000 NULL pfam_Peptidase_C54 - no_errors ATG4A HGNC ENSG00000101844 764 2 0.26 336 109 24.44 - - - ATG4A 0 genome.wustl.edu 37 X 107396915 107396915 + Frame_Shift_Del DEL G G - TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 X 107396915 107396915 G - DEL ATG4A ENST00000372232 human ensembl 69_37n +1 known frame_shift_del c.1170 p.E391fs 1.000 NULL pfam_Peptidase_C54 - no_errors ATG4A HGNC ENSG00000101844 662 0 0.00 336 109 24.44 - - - BFAR 0 genome.wustl.edu 37 16 14738316 14738316 + Missense_Mutation SNP A A C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 16 14738316 14738316 A C SNP BFAR ENST00000261658 human ensembl 69_37n +1 known missense c.113 p.Y38S 0.998 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors BFAR HGNC ENSG00000103429 283 1 0.35 184 55 23.01 - - - BFAR 0 genome.wustl.edu 37 16 14738316 14738316 + Missense_Mutation SNP A A C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 16 14738316 14738316 A C SNP BFAR ENST00000261658 human ensembl 69_37n +1 known missense c.113 p.Y38S 0.998 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors BFAR HGNC ENSG00000103429 254 1 0.39 184 55 23.01 - - - BRD8 0 genome.wustl.edu 37 5 137480865 137480865 + Splice_Site SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 5 137480865 137480865 C T SNP BRD8 ENST00000254900 human ensembl 69_37n -1 known splice_site c.3437+1 e25+1 1.000 - - - no_errors BRD8 HGNC ENSG00000112983 701 3 0.42 286 133 31.74 - - - BRD8 0 genome.wustl.edu 37 5 137480865 137480865 + Splice_Site SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 5 137480865 137480865 C T SNP BRD8 ENST00000254900 human ensembl 69_37n -1 known splice_site c.3437+1 e25+1 1.000 - - - no_errors BRD8 HGNC ENSG00000112983 621 0 0.00 286 133 31.74 - - - C11orf84 0 genome.wustl.edu 37 11 63585290 63585290 + Silent SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 11 63585290 63585290 G A SNP C11orf84 ENST00000294244 human ensembl 69_37n +1 known silent c.141 p.E47 0.953 NULL NULL - no_errors C11orf84 HGNC ENSG00000168005 78 0 0.00 205 59 22.26 - - - C11orf84 0 genome.wustl.edu 37 11 63585290 63585290 + Silent SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 11 63585290 63585290 G A SNP C11orf84 ENST00000294244 human ensembl 69_37n +1 known silent c.141 p.E47 0.953 NULL NULL - no_errors C11orf84 HGNC ENSG00000168005 96 0 0.00 205 59 22.26 - - - CCDC33 0 genome.wustl.edu 37 15 74623630 74623630 + Silent SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 15 74623630 74623630 C T SNP CCDC33 ENST00000321288 human ensembl 69_37n +1 known silent c.2373 p.P791 0.005 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CCDC33 HGNC ENSG00000140481 55 0 0.00 75 9 10.59 - - - CCDC33 0 genome.wustl.edu 37 15 74623630 74623630 + Silent SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 15 74623630 74623630 C T SNP CCDC33 ENST00000321288 human ensembl 69_37n +1 known silent c.2373 p.P791 0.005 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CCDC33 HGNC ENSG00000140481 56 0 0.00 75 9 10.59 - - - CCDC66 0 genome.wustl.edu 37 3 56653393 56653393 + Missense_Mutation SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 3 56653393 56653393 G A SNP CCDC66 ENST00000394672 human ensembl 69_37n +1 known missense c.2473 p.E825K 0.970 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 319 2 0.62 126 16 11.27 - - - CCDC66 0 genome.wustl.edu 37 3 56653393 56653393 + Missense_Mutation SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 3 56653393 56653393 G A SNP CCDC66 ENST00000394672 human ensembl 69_37n +1 known missense c.2473 p.E825K 0.970 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 274 2 0.72 126 16 11.27 - - - CDC25C 0 genome.wustl.edu 37 5 137666884 137666884 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 5 137666884 137666884 C T SNP CDC25C ENST00000510119 human ensembl 69_37n -1 putative missense c.37 p.E13K 0.734 NULL pfam_MPI_Phosphatase - no_stop_codon CDC25C HGNC ENSG00000158402 143 1 0.69 101 17 14.41 - - - CDC25C 0 genome.wustl.edu 37 5 137666884 137666884 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 5 137666884 137666884 C T SNP CDC25C ENST00000510119 human ensembl 69_37n -1 putative missense c.37 p.E13K 0.734 NULL pfam_MPI_Phosphatase - no_stop_codon CDC25C HGNC ENSG00000158402 113 0 0.00 101 17 14.41 - - - CENPE 0 genome.wustl.edu 37 4 104084638 104084638 + Missense_Mutation SNP C C G TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 4 104084638 104084638 C G SNP CENPE ENST00000265148 human ensembl 69_37n -1 known missense c.1720 p.E574Q 1.000 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 271 0 0.00 96 36 27.27 - - - CENPE 0 genome.wustl.edu 37 4 104084638 104084638 + Missense_Mutation SNP C C G TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 4 104084638 104084638 C G SNP CENPE ENST00000265148 human ensembl 69_37n -1 known missense c.1720 p.E574Q 1.000 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 248 0 0.00 96 36 27.27 - - - CIRH1A 0 genome.wustl.edu 37 16 69202749 69202749 + Missense_Mutation SNP A A C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 16 69202749 69202749 A C SNP CIRH1A ENST00000314423 human ensembl 69_37n +1 known missense c.1970 p.D657A 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIRH1A HGNC ENSG00000141076 325 2 0.61 154 58 27.36 - - - CIRH1A 0 genome.wustl.edu 37 16 69202749 69202749 + Missense_Mutation SNP A A C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 16 69202749 69202749 A C SNP CIRH1A ENST00000314423 human ensembl 69_37n +1 known missense c.1970 p.D657A 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIRH1A HGNC ENSG00000141076 259 0 0.00 154 58 27.36 - - - CMYA5 0 genome.wustl.edu 37 5 79032493 79032493 + Missense_Mutation SNP C C A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 5 79032493 79032493 C A SNP CMYA5 ENST00000446378 human ensembl 69_37n +1 known missense c.7905 p.F2635L 0.007 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 142 1 0.70 75 21 21.88 - - - CMYA5 0 genome.wustl.edu 37 5 79032493 79032493 + Missense_Mutation SNP C C A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 5 79032493 79032493 C A SNP CMYA5 ENST00000446378 human ensembl 69_37n +1 known missense c.7905 p.F2635L 0.007 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 103 0 0.00 75 21 21.88 - - - COX17 0 genome.wustl.edu 37 3 119396062 119396062 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 3 119396062 119396062 C T SNP COX17 ENST00000486606 human ensembl 69_37n -1 known missense c.80 p.R27H 1.000 pfam_Cyt_c_oxidase_Cu-chaperone,superfamily_MTCP1 pfam_Cyt_c_oxidase_Cu-chaperone,superfamily_MTCP1 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region COX17 HGNC ENSG00000138495 27 0 0.00 104 17 14.05 - - - CR1 0 genome.wustl.edu 37 1 207753648 207753648 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 1 207753648 207753648 C T SNP CR1 ENST00000367049 human ensembl 69_37n +1 known missense c.5000 p.S1667L 0.003 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 266 0 0.00 325 167 33.94 - - - CRB1 0 genome.wustl.edu 37 1 197397057 197397057 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 1 197397057 197397057 C T SNP CRB1 ENST00000367400 human ensembl 69_37n +1 known missense c.2602 p.P868S 0.013 superfamily_ConA-like_lec_gl,pfscan_Laminin_G pfam_EGF-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 168 0 0.00 108 63 36.84 - - - CRYBG3 0 genome.wustl.edu 37 3 97607255 97607255 + Missense_Mutation SNP G G C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 3 97607255 97607255 G C SNP CRYBG3 ENST00000182096 human ensembl 69_37n +1 known missense c.1516 p.E506Q 1.000 superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 225 0 0.00 61 11 15.28 - - - CRYBG3 0 genome.wustl.edu 37 3 97607255 97607255 + Missense_Mutation SNP G G C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 3 97607255 97607255 G C SNP CRYBG3 ENST00000182096 human ensembl 69_37n +1 known missense c.1516 p.E506Q 1.000 superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 200 0 0.00 61 11 15.28 - - - DMD 0 genome.wustl.edu 37 X 31525555 31525555 + Frame_Shift_Del DEL T T - TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 X 31525555 31525555 T - DEL DMD ENST00000357033 human ensembl 69_37n -1 known frame_shift_del c.8233 p.I2745fs 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 794 1 0.13 533 61 10.22 - - - DMD 0 genome.wustl.edu 37 X 31525555 31525555 + Frame_Shift_Del DEL T T - TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 X 31525555 31525555 T - DEL DMD ENST00000357033 human ensembl 69_37n -1 known frame_shift_del c.8233 p.I2745fs 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 638 0 0.00 533 61 10.22 - - - DSP 0 genome.wustl.edu 37 6 7583848 7583848 + Missense_Mutation SNP G G C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 6 7583848 7583848 G C SNP DSP ENST00000379802 human ensembl 69_37n +1 known missense c.6353 p.R2118T 0.996 smart_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 118 0 0.00 52 6 10.34 - - - DSP 0 genome.wustl.edu 37 6 7583848 7583848 + Missense_Mutation SNP G G C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 6 7583848 7583848 G C SNP DSP ENST00000379802 human ensembl 69_37n +1 known missense c.6353 p.R2118T 0.996 smart_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 88 0 0.00 52 6 10.34 - - - EIF2C2 0 genome.wustl.edu 37 8 141549423 141549423 + Missense_Mutation SNP T T A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 8 141549423 141549423 T A SNP EIF2C2 ENST00000220592 human ensembl 69_37n -1 known missense c.2165 p.E722V 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C2 HGNC ENSG00000123908 115 0 0.00 186 26 12.26 - - - EIF2C2 0 genome.wustl.edu 37 8 141549423 141549423 + Missense_Mutation SNP T T A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 8 141549423 141549423 T A SNP EIF2C2 ENST00000220592 human ensembl 69_37n -1 known missense c.2165 p.E722V 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C2 HGNC ENSG00000123908 111 1 0.89 186 26 12.26 - - - EPOR 0 genome.wustl.edu 37 19 11493879 11493879 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 19 11493879 11493879 C T SNP EPOR ENST00000222139 human ensembl 69_37n -1 known missense c.145 p.E49K 0.002 pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,pirsf_Erythropoietin_rcpt pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Erythropoietin_rcpt,pfscan_Fibronectin_type3 - no_errors EPOR HGNC ENSG00000187266 33 0 0.00 85 14 14.14 - - - EPOR 0 genome.wustl.edu 37 19 11493879 11493879 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 19 11493879 11493879 C T SNP EPOR ENST00000222139 human ensembl 69_37n -1 known missense c.145 p.E49K 0.002 pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,pirsf_Erythropoietin_rcpt pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Erythropoietin_rcpt,pfscan_Fibronectin_type3 - no_errors EPOR HGNC ENSG00000187266 54 0 0.00 85 14 14.14 - - - FAM114A1 0 genome.wustl.edu 37 4 38910268 38910268 + Missense_Mutation SNP C C A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 4 38910268 38910268 C A SNP FAM114A1 ENST00000358869 human ensembl 69_37n +1 known missense c.713 p.T238N 1.000 pfam_DUF719 pfam_DUF719 - no_errors FAM114A1 HGNC ENSG00000197712 289 2 0.69 171 49 22.07 - - - FAM114A1 0 genome.wustl.edu 37 4 38910268 38910268 + Missense_Mutation SNP C C A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 4 38910268 38910268 C A SNP FAM114A1 ENST00000358869 human ensembl 69_37n +1 known missense c.713 p.T238N 1.000 pfam_DUF719 pfam_DUF719 - no_errors FAM114A1 HGNC ENSG00000197712 270 0 0.00 171 49 22.07 - - - FBXO10 0 genome.wustl.edu 37 9 37537587 37537587 + Silent SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 9 37537587 37537587 G A SNP FBXO10 ENST00000432825 human ensembl 69_37n -1 known silent c.939 p.I313 0.117 NULL pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom_cyclin-like,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO10 HGNC ENSG00000147912 111 0 0.00 116 25 17.61 - - - FBXO41 0 genome.wustl.edu 37 2 73487592 73487592 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 2 73487592 73487592 C T SNP FBXO41 ENST00000295133 human ensembl 69_37n -1 known missense c.2557 p.E853K 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO41 HGNC ENSG00000163013 96 0 0.00 144 39 21.31 - - - FBXO41 0 genome.wustl.edu 37 2 73487592 73487592 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 2 73487592 73487592 C T SNP FBXO41 ENST00000295133 human ensembl 69_37n -1 known missense c.2557 p.E853K 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO41 HGNC ENSG00000163013 87 0 0.00 144 39 21.31 - - - FBXW2 0 genome.wustl.edu 37 9 123550286 123550286 + Missense_Mutation SNP G G C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 9 123550286 123550286 G C SNP FBXW2 ENST00000373926 human ensembl 69_37n -1 known missense c.251 p.S84C 1.000 pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW2 HGNC ENSG00000119402 269 2 0.73 160 71 30.74 - - - FBXW2 0 genome.wustl.edu 37 9 123550286 123550286 + Missense_Mutation SNP G G C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 9 123550286 123550286 G C SNP FBXW2 ENST00000373926 human ensembl 69_37n -1 known missense c.251 p.S84C 1.000 pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW2 HGNC ENSG00000119402 306 0 0.00 160 71 30.74 - - - FLNC 0 genome.wustl.edu 37 7 128491585 128491585 + Silent SNP C C A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 7 128491585 128491585 C A SNP FLNC ENST00000325888 human ensembl 69_37n +1 known silent c.5745 p.T1915 0.034 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 FLNC HGNC ENSG00000128591 77 0 0.00 149 23 13.37 - - - FLNC 0 genome.wustl.edu 37 7 128491585 128491585 + Silent SNP C C A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 7 128491585 128491585 C A SNP FLNC ENST00000325888 human ensembl 69_37n +1 known silent c.5745 p.T1915 0.034 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 FLNC HGNC ENSG00000128591 77 0 0.00 149 23 13.37 - - - FN1 0 genome.wustl.edu 37 2 216262561 216262561 + Missense_Mutation SNP C C G TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 2 216262561 216262561 C G SNP FN1 ENST00000354785 human ensembl 69_37n -1 known missense c.3359 p.R1120P 0.991 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 202 0 0.00 225 61 21.33 - - - FN1 0 genome.wustl.edu 37 2 216262561 216262561 + Missense_Mutation SNP C C G TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 2 216262561 216262561 C G SNP FN1 ENST00000354785 human ensembl 69_37n -1 known missense c.3359 p.R1120P 0.991 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 201 0 0.00 225 61 21.33 - - - GPR125 0 genome.wustl.edu 37 4 22390713 22390713 + Silent SNP G G C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 4 22390713 22390713 G C SNP GPR125 ENST00000334304 human ensembl 69_37n -1 known silent c.2721 p.P907 0.911 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR125 HGNC ENSG00000152990 246 0 0.00 179 25 12.25 - - - GPR125 0 genome.wustl.edu 37 4 22390713 22390713 + Silent SNP G G C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 4 22390713 22390713 G C SNP GPR125 ENST00000334304 human ensembl 69_37n -1 known silent c.2721 p.P907 0.911 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR125 HGNC ENSG00000152990 240 0 0.00 179 25 12.25 - - - GPR149 0 genome.wustl.edu 37 3 154138885 154138885 + Silent SNP T T C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 3 154138885 154138885 T C SNP GPR149 ENST00000389740 human ensembl 69_37n -1 known silent c.1566 p.K522 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR149 HGNC ENSG00000174948 360 1 0.28 341 50 12.79 - - - GPR149 0 genome.wustl.edu 37 3 154138885 154138885 + Silent SNP T T C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 3 154138885 154138885 T C SNP GPR149 ENST00000389740 human ensembl 69_37n -1 known silent c.1566 p.K522 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR149 HGNC ENSG00000174948 296 0 0.00 341 50 12.79 - - - HECW1 0 genome.wustl.edu 37 7 43351515 43351515 + Missense_Mutation SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 7 43351515 43351515 G A SNP HECW1 ENST00000395891 human ensembl 69_37n +1 known missense c.181 p.V61I 0.933 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC ENSG00000002746 69 0 0.00 125 41 24.40 - - - HECW1 0 genome.wustl.edu 37 7 43351515 43351515 + Missense_Mutation SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 7 43351515 43351515 G A SNP HECW1 ENST00000395891 human ensembl 69_37n +1 known missense c.181 p.V61I 0.933 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC ENSG00000002746 88 0 0.00 125 41 24.40 - - - HEY1 0 genome.wustl.edu 37 8 80679523 80679523 + Silent SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 8 80679523 80679523 C T SNP HEY1 ENST00000337919 human ensembl 69_37n -1 known silent c.96 p.L32 1.000 NULL pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd - no_errors HEY1 HGNC ENSG00000164683 181 1 0.55 61 50 45.05 - - - HEY1 0 genome.wustl.edu 37 8 80679523 80679523 + Silent SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 8 80679523 80679523 C T SNP HEY1 ENST00000337919 human ensembl 69_37n -1 known silent c.96 p.L32 1.000 NULL pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd - no_errors HEY1 HGNC ENSG00000164683 162 0 0.00 61 50 45.05 - - - HOXA5 0 genome.wustl.edu 37 7 27182735 27182735 + Missense_Mutation SNP G G T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 7 27182735 27182735 G T SNP HOXA5 ENST00000222726 human ensembl 69_37n -1 known missense c.492 p.S164R 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA5 HGNC ENSG00000106004 57 0 0.00 56 19 25.33 - - - IFI35 0 genome.wustl.edu 37 17 41158967 41158967 + Frame_Shift_Del DEL G G - TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 17 41158967 41158967 G - DEL IFI35 ENST00000438323 human ensembl 69_37n +1 known frame_shift_del c.3 p.M1fs 0.049 NULL pfam_Nmi/IFP35,pfam_Interferon_induced_35kDa_N - no_errors IFI35 HGNC ENSG00000068079 517 1 0.19 331 39 10.48 - - - IFI35 0 genome.wustl.edu 37 17 41158967 41158967 + Frame_Shift_Del DEL G G - TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 17 41158967 41158967 G - DEL IFI35 ENST00000438323 human ensembl 69_37n +1 known frame_shift_del c.3 p.M1fs 0.049 NULL pfam_Nmi/IFP35,pfam_Interferon_induced_35kDa_N - no_errors IFI35 HGNC ENSG00000068079 514 0 0.00 331 39 10.48 - - - IPO8 0 genome.wustl.edu 37 12 30823923 30823923 + Silent SNP G G T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 12 30823923 30823923 G T SNP IPO8 ENST00000256079 human ensembl 69_37n -1 known silent c.1017 p.T339 0.979 pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 520 2 0.38 185 37 16.52 - - - IPO8 0 genome.wustl.edu 37 12 30823923 30823923 + Silent SNP G G T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 12 30823923 30823923 G T SNP IPO8 ENST00000256079 human ensembl 69_37n -1 known silent c.1017 p.T339 0.979 pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 485 0 0.00 185 37 16.52 - - - ISX 0 genome.wustl.edu 37 22 35478527 35478527 + Silent SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 22 35478527 35478527 G A SNP ISX ENST00000308700 human ensembl 69_37n +1 known silent c.246 p.K82 0.669 superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ISX HGNC ENSG00000175329 129 1 0.77 164 58 26.13 - - - ISX 0 genome.wustl.edu 37 22 35478527 35478527 + Silent SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 22 35478527 35478527 G A SNP ISX ENST00000308700 human ensembl 69_37n +1 known silent c.246 p.K82 0.669 superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ISX HGNC ENSG00000175329 110 0 0.00 164 58 26.13 - - - ITGA1 0 genome.wustl.edu 37 5 52243219 52243219 + Silent SNP A A T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 5 52243219 52243219 A T SNP ITGA1 ENST00000282588 human ensembl 69_37n +1 known silent c.3423 p.P1141 0.176 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 742 3 0.40 632 161 20.30 - - - ITGA1 0 genome.wustl.edu 37 5 52243219 52243219 + Silent SNP A A T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 5 52243219 52243219 A T SNP ITGA1 ENST00000282588 human ensembl 69_37n +1 known silent c.3423 p.P1141 0.176 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 707 0 0.00 632 161 20.30 - - - KCNH5 0 genome.wustl.edu 37 14 63174802 63174802 + Silent SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 14 63174802 63174802 G A SNP KCNH5 ENST00000322893 human ensembl 69_37n -1 known silent c.2391 p.V797 1.000 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 297 0 0.00 365 49 11.84 - - - KCNH5 0 genome.wustl.edu 37 14 63174802 63174802 + Silent SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 14 63174802 63174802 G A SNP KCNH5 ENST00000322893 human ensembl 69_37n -1 known silent c.2391 p.V797 1.000 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 250 0 0.00 365 49 11.84 - - - KLRC1 0 genome.wustl.edu 37 12 10602545 10602545 + Frame_Shift_Del DEL T T - TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 12 10602545 10602545 T - DEL KLRC1 ENST00000359151 human ensembl 69_37n -1 known frame_shift_del c.305 p.N102fs 0.004 pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRC1 HGNC ENSG00000134545 92 0 0.00 12 2 14.29 - - - KLRC1 0 genome.wustl.edu 37 12 10602545 10602545 + Frame_Shift_Del DEL T T - TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 12 10602545 10602545 T - DEL KLRC1 ENST00000359151 human ensembl 69_37n -1 known frame_shift_del c.305 p.N102fs 0.004 pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRC1 HGNC ENSG00000134545 72 0 0.00 12 2 14.29 - - - KSR2 0 genome.wustl.edu 37 12 118293372 118293372 + Silent SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 12 118293372 118293372 G A SNP KSR2 ENST00000339824 human ensembl 69_37n -1 known silent c.333 p.P111 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors KSR2 HGNC ENSG00000171435 138 0 0.00 192 106 35.33 - - - KSR2 0 genome.wustl.edu 37 12 118293372 118293372 + Silent SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 12 118293372 118293372 G A SNP KSR2 ENST00000339824 human ensembl 69_37n -1 known silent c.333 p.P111 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors KSR2 HGNC ENSG00000171435 157 1 0.63 192 106 35.33 - - - LAMA5 0 genome.wustl.edu 37 20 60889977 60889977 + Nonsense_Mutation SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 20 60889977 60889977 G A SNP LAMA5 ENST00000252999 human ensembl 69_37n -1 known nonsense c.8074 p.Q2692* 0.904 pfam_Laminin_II pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,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,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 50 0 0.00 121 53 30.29 - - - LAMA5 0 genome.wustl.edu 37 20 60889977 60889977 + Nonsense_Mutation SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 20 60889977 60889977 G A SNP LAMA5 ENST00000252999 human ensembl 69_37n -1 known nonsense c.8074 p.Q2692* 0.904 pfam_Laminin_II pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,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,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 55 0 0.00 121 53 30.29 - - - LCP2 0 genome.wustl.edu 37 5 169697879 169697879 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 5 169697879 169697879 C T SNP LCP2 ENST00000046794 human ensembl 69_37n -1 known missense c.367 p.E123K 0.982 NULL pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 193 0 0.00 244 120 32.97 - - - LCP2 0 genome.wustl.edu 37 5 169697879 169697879 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 5 169697879 169697879 C T SNP LCP2 ENST00000046794 human ensembl 69_37n -1 known missense c.367 p.E123K 0.982 NULL pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 214 0 0.00 244 120 32.97 - - - LRP12 0 genome.wustl.edu 37 8 105509599 105509599 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 8 105509599 105509599 C T SNP LRP12 ENST00000424843 human ensembl 69_37n -1 known missense c.1124 p.R375H 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 336 1 0.30 204 145 41.55 - - - LRP12 0 genome.wustl.edu 37 8 105509599 105509599 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 8 105509599 105509599 C T SNP LRP12 ENST00000424843 human ensembl 69_37n -1 known missense c.1124 p.R375H 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 319 0 0.00 204 145 41.55 - - - MIA2 0 genome.wustl.edu 37 14 39722059 39722059 + Missense_Mutation SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 14 39722059 39722059 G A SNP MIA2 ENST00000280082 human ensembl 69_37n +1 novel missense c.1675 p.E559K 0.037 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA2 HGNC ENSG00000150526 412 1 0.24 138 53 27.75 - - - MIA2 0 genome.wustl.edu 37 14 39722059 39722059 + Missense_Mutation SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 14 39722059 39722059 G A SNP MIA2 ENST00000280082 human ensembl 69_37n +1 novel missense c.1675 p.E559K 0.037 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA2 HGNC ENSG00000150526 313 0 0.00 138 53 27.75 - - - MUC16 0 genome.wustl.edu 37 19 9076968 9076968 + Missense_Mutation SNP A A G TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 19 9076968 9076968 A G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.10478 p.I3493T 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 383 2 0.52 581 126 17.82 - - - MUC16 0 genome.wustl.edu 37 19 9076968 9076968 + Missense_Mutation SNP A A G TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 19 9076968 9076968 A G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.10478 p.I3493T 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 318 0 0.00 581 126 17.82 - - - NLRP7 0 genome.wustl.edu 37 19 55450823 55450823 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 19 55450823 55450823 C T SNP NLRP7 ENST00000446217 human ensembl 69_37n -1 known missense c.1448 p.R483H 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 49 0 0.00 75 24 24.24 - - - NLRP7 0 genome.wustl.edu 37 19 55450823 55450823 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 19 55450823 55450823 C T SNP NLRP7 ENST00000446217 human ensembl 69_37n -1 known missense c.1448 p.R483H 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 70 0 0.00 75 24 24.24 - - - OR2M5 0 genome.wustl.edu 37 1 248308750 248308750 + Missense_Mutation SNP A A G TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 1 248308750 248308750 A G SNP OR2M5 ENST00000366476 human ensembl 69_37n +1 known missense c.301 p.I101V 0.992 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 OR2M5 HGNC ENSG00000162727 720 2 0.28 1119 241 17.71 - - - OR2M5 0 genome.wustl.edu 37 1 248308750 248308750 + Missense_Mutation SNP A A G TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 1 248308750 248308750 A G SNP OR2M5 ENST00000366476 human ensembl 69_37n +1 known missense c.301 p.I101V 0.992 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 OR2M5 HGNC ENSG00000162727 706 0 0.00 1119 241 17.71 - - - OR2T3 0 genome.wustl.edu 37 1 248637013 248637013 + Missense_Mutation SNP C C A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 1 248637013 248637013 C A SNP OR2T3 ENST00000359594 human ensembl 69_37n +1 known missense c.362 p.A121D 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2T3 HGNC ENSG00000196539 245 1 0.40 488 227 31.75 - - - OR2T3 0 genome.wustl.edu 37 1 248637013 248637013 + Missense_Mutation SNP C C A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 1 248637013 248637013 C A SNP OR2T3 ENST00000359594 human ensembl 69_37n +1 known missense c.362 p.A121D 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2T3 HGNC ENSG00000196539 283 0 0.00 488 227 31.75 - - - OR56A1 0 genome.wustl.edu 37 11 6048719 6048719 + Silent SNP G G C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 11 6048719 6048719 G C SNP OR56A1 ENST00000316650 human ensembl 69_37n -1 known silent c.216 p.L72 0.072 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR56A1 HGNC ENSG00000180934 339 1 0.29 617 144 18.90 - - - OR56A1 0 genome.wustl.edu 37 11 6048719 6048719 + Silent SNP G G C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 11 6048719 6048719 G C SNP OR56A1 ENST00000316650 human ensembl 69_37n -1 known silent c.216 p.L72 0.072 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR56A1 HGNC ENSG00000180934 371 0 0.00 617 144 18.90 - - - OR6C70 0 genome.wustl.edu 37 12 55862990 55862990 + Missense_Mutation SNP G G T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 12 55862990 55862990 G T SNP OR6C70 ENST00000327335 human ensembl 69_37n -1 known missense c.933 p.D311E 0.002 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6C70 HGNC ENSG00000184954 97 0 0.00 46 9 16.36 - - - OR6C70 0 genome.wustl.edu 37 12 55862990 55862990 + Missense_Mutation SNP G G T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 12 55862990 55862990 G T SNP OR6C70 ENST00000327335 human ensembl 69_37n -1 known missense c.933 p.D311E 0.002 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6C70 HGNC ENSG00000184954 85 0 0.00 46 9 16.36 - - - OR9G4 0 genome.wustl.edu 37 11 56510936 56510936 + Missense_Mutation SNP A A G TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 11 56510936 56510936 A G SNP OR9G4 ENST00000302957 human ensembl 69_37n -1 known missense c.352 p.F118L 0.999 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR9G4 HGNC ENSG00000172457 95 0 0.00 123 32 20.65 - - - PALLD 0 genome.wustl.edu 37 4 169433082 169433082 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 4 169433082 169433082 C T SNP PALLD ENST00000261509 human ensembl 69_37n +1 known missense c.427 p.R143C 0.016 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PALLD HGNC ENSG00000129116 54 0 0.00 32 17 34.69 - - - PER2 0 genome.wustl.edu 37 2 239164504 239164504 + Missense_Mutation SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 2 239164504 239164504 G A SNP PER2 ENST00000254657 human ensembl 69_37n -1 known missense c.2114 p.A705V 0.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 106 1 0.93 142 20 12.27 - - - PER2 0 genome.wustl.edu 37 2 239164504 239164504 + Missense_Mutation SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 2 239164504 239164504 G A SNP PER2 ENST00000254657 human ensembl 69_37n -1 known missense c.2114 p.A705V 0.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 100 0 0.00 142 20 12.27 - - - PLIN1 0 genome.wustl.edu 37 15 90210242 90210242 + Silent SNP C C G TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 15 90210242 90210242 C G SNP PLIN1 ENST00000300055 human ensembl 69_37n -1 known silent c.1134 p.G378 0.007 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN1 HGNC ENSG00000166819 50 0 0.00 79 30 27.52 - - - PLIN1 0 genome.wustl.edu 37 15 90210242 90210242 + Silent SNP C C G TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 15 90210242 90210242 C G SNP PLIN1 ENST00000300055 human ensembl 69_37n -1 known silent c.1134 p.G378 0.007 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN1 HGNC ENSG00000166819 66 0 0.00 79 30 27.52 - - - POU6F2 0 genome.wustl.edu 37 7 39379419 39379419 + Silent SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 7 39379419 39379419 C T SNP POU6F2 ENST00000403058 human ensembl 69_37n +1 known silent c.690 p.P230 0.119 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 224 1 0.44 352 111 23.92 - - - RAPGEF1 0 genome.wustl.edu 37 9 134514093 134514093 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 9 134514093 134514093 C T SNP RAPGEF1 ENST00000372190 human ensembl 69_37n -1 known missense c.583 p.V195M 0.997 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 338 2 0.59 297 82 21.64 - - - RAPGEF1 0 genome.wustl.edu 37 9 134514093 134514093 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 9 134514093 134514093 C T SNP RAPGEF1 ENST00000372190 human ensembl 69_37n -1 known missense c.583 p.V195M 0.997 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 335 0 0.00 297 82 21.64 - - - RPP30 0 genome.wustl.edu 37 10 92638822 92638822 + Missense_Mutation SNP A A T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 10 92638822 92638822 A T SNP RPP30 ENST00000413330 human ensembl 69_37n +1 known missense c.273 p.R91S 1.000 pfam_RNase_P_p30,superfamily_Pol/histidinol_Pase-like pfam_RNase_P_p30,superfamily_Pol/histidinol_Pase-like - no_errors RPP30 HGNC ENSG00000148688 466 4 0.85 188 44 18.97 - - - RPP30 0 genome.wustl.edu 37 10 92638822 92638822 + Missense_Mutation SNP A A T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 10 92638822 92638822 A T SNP RPP30 ENST00000413330 human ensembl 69_37n +1 known missense c.273 p.R91S 1.000 pfam_RNase_P_p30,superfamily_Pol/histidinol_Pase-like pfam_RNase_P_p30,superfamily_Pol/histidinol_Pase-like - no_errors RPP30 HGNC ENSG00000148688 373 0 0.00 188 44 18.97 - - - SCLT1 0 genome.wustl.edu 37 4 129964598 129964598 + Silent SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 4 129964598 129964598 C T SNP SCLT1 ENST00000281142 human ensembl 69_37n -1 known silent c.186 p.E62 1.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 285 0 0.00 38 5 11.63 - - - SCLT1 0 genome.wustl.edu 37 4 129964598 129964598 + Silent SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 4 129964598 129964598 C T SNP SCLT1 ENST00000281142 human ensembl 69_37n -1 known silent c.186 p.E62 1.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 226 0 0.00 38 5 11.63 - - - SIGLEC9 0 genome.wustl.edu 37 19 51629007 51629007 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 19 51629007 51629007 C T SNP SIGLEC9 ENST00000440804 human ensembl 69_37n +1 known missense c.575 p.T192I 0.000 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors SIGLEC9 HGNC ENSG00000129450 97 0 0.00 117 72 37.70 - - - SIGLEC9 0 genome.wustl.edu 37 19 51629007 51629007 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 19 51629007 51629007 C T SNP SIGLEC9 ENST00000440804 human ensembl 69_37n +1 known missense c.575 p.T192I 0.000 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors SIGLEC9 HGNC ENSG00000129450 182 0 0.00 117 72 37.70 - - - SORCS1 0 genome.wustl.edu 37 10 108434901 108434901 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 10 108434901 108434901 C T SNP SORCS1 ENST00000344440 human ensembl 69_37n -1 known missense c.1846 p.E616K 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 371 3 0.80 139 33 19.19 - - - SORCS1 0 genome.wustl.edu 37 10 108434901 108434901 + Missense_Mutation SNP C C T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 10 108434901 108434901 C T SNP SORCS1 ENST00000344440 human ensembl 69_37n -1 known missense c.1846 p.E616K 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 303 0 0.00 139 33 19.19 - - - TAS1R2 0 genome.wustl.edu 37 1 19186120 19186120 + Missense_Mutation SNP A A T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 1 19186120 19186120 A T SNP TAS1R2 ENST00000375371 human ensembl 69_37n -1 novel missense c.35 p.F12Y 0.035 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 275 1 0.36 270 35 11.48 - - - TAS1R2 0 genome.wustl.edu 37 1 19186120 19186120 + Missense_Mutation SNP A A T TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 1 19186120 19186120 A T SNP TAS1R2 ENST00000375371 human ensembl 69_37n -1 novel missense c.35 p.F12Y 0.035 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 278 0 0.00 270 35 11.48 - - - TBX3 0 genome.wustl.edu 37 12 115114129 115114129 + Missense_Mutation SNP G G C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 12 115114129 115114129 G C SNP TBX3 ENST00000257566 human ensembl 69_37n -1 known missense c.1088 p.S363W 0.892 pfam_TBX pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 247 0 0.00 145 70 32.56 - - - TP53 0 genome.wustl.edu 37 17 7578542 7578542 + Missense_Mutation SNP G G C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 17 7578542 7578542 G C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.388 p.L130V 0.985 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 154 1 0.64 99 32 24.43 - - - TP53 0 genome.wustl.edu 37 17 7578542 7578542 + Missense_Mutation SNP G G C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 17 7578542 7578542 G C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.388 p.L130V 0.985 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 172 0 0.00 99 32 24.43 - - - TRPM7 0 genome.wustl.edu 37 15 50905926 50905926 + Missense_Mutation SNP G G C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 15 50905926 50905926 G C SNP TRPM7 ENST00000313478 human ensembl 69_37n -1 known missense c.1748 p.T583R 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 421 1 0.24 172 38 18.10 - - - TRPM7 0 genome.wustl.edu 37 15 50905926 50905926 + Missense_Mutation SNP G G C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 15 50905926 50905926 G C SNP TRPM7 ENST00000313478 human ensembl 69_37n -1 known missense c.1748 p.T583R 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 369 0 0.00 172 38 18.10 - - - TTBK1 0 genome.wustl.edu 37 6 43225687 43225687 + Silent SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 6 43225687 43225687 G A SNP TTBK1 ENST00000259750 human ensembl 69_37n +1 known silent c.999 p.Q333 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK1 HGNC ENSG00000146216 66 0 0.00 113 15 11.63 - - - TTBK1 0 genome.wustl.edu 37 6 43225687 43225687 + Silent SNP G G A TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 6 43225687 43225687 G A SNP TTBK1 ENST00000259750 human ensembl 69_37n +1 known silent c.999 p.Q333 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK1 HGNC ENSG00000146216 76 0 0.00 113 15 11.63 - - - WDR13 0 genome.wustl.edu 37 X 48458901 48458901 + Missense_Mutation SNP A A G TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 X 48458901 48458901 A G SNP WDR13 ENST00000218056 human ensembl 69_37n +1 known missense c.718 p.T240A 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR13 HGNC ENSG00000101940 46 0 0.00 112 40 25.64 - - - WDR13 0 genome.wustl.edu 37 X 48458901 48458901 + Missense_Mutation SNP A A G TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 X 48458901 48458901 A G SNP WDR13 ENST00000218056 human ensembl 69_37n +1 known missense c.718 p.T240A 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR13 HGNC ENSG00000101940 62 0 0.00 112 40 25.64 - - - ZNF540 0 genome.wustl.edu 37 19 38102566 38102566 + Missense_Mutation SNP G G C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 e71af20f-596d-4bad-8af3-4ded35614825 19 38102566 38102566 G C SNP ZNF540 ENST00000316433 human ensembl 69_37n +1 known missense c.385 p.E129Q 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF540 HGNC ENSG00000171817 341 1 0.29 87 24 21.62 - - - ZNF540 0 genome.wustl.edu 37 19 38102566 38102566 + Missense_Mutation SNP G G C TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 19 38102566 38102566 G C SNP ZNF540 ENST00000316433 human ensembl 69_37n +1 known missense c.385 p.E129Q 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF540 HGNC ENSG00000171817 255 0 0.00 87 24 21.62 - - - ZNF652 0 genome.wustl.edu 37 17 47376040 47376040 + Missense_Mutation SNP A A G TCGA-E2-A15M-01A-11D-A12B-09 TCGA-E2-A15M-11A-22D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 06b28922-49b5-4633-a07b-c0bd51b2aee5 635d491b-44f7-4467-adb0-941c2bd5d1f9 17 47376040 47376040 A G SNP ZNF652 ENST00000362063 human ensembl 69_37n -1 known missense c.1556 p.V519A 0.050 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF652 HGNC ENSG00000198740 297 0 0.00 307 99 24.38 - - -