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 AFF1 0 genome.wustl.edu 37 4 87967342 87967342 + Silent SNP G G A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 4 87967342 87967342 G A SNP AFF1 ENST00000395146 human ensembl 69_37n +1 known silent c.63 p.L21 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 456 0 0.00 96 183 65.59 - - - AGBL5 0 genome.wustl.edu 37 2 27293023 27293026 + Frame_Shift_Del DEL TCTA TCTA - TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 TCTA TCTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 2 27293023 27293026 TCTA - DEL AGBL5 ENST00000360131 human ensembl 69_37n +1 known frame_shift_del c.2553_2556 p.S853fs 0.984:0.972:0.932:0.075 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 117 0 0.00 51 6 10.17 - - - ANKS4B 0 genome.wustl.edu 37 16 21261779 21261779 + Missense_Mutation SNP C C A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 16 21261779 21261779 C A SNP ANKS4B ENST00000311620 human ensembl 69_37n +1 known missense c.892 p.L298M 0.064 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKS4B HGNC ENSG00000175311 170 0 0.00 115 82 41.62 - - - ARMC3 0 genome.wustl.edu 37 10 23326258 23326258 + Silent SNP G G A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 10 23326258 23326258 G A SNP ARMC3 ENST00000298032 human ensembl 69_37n +1 known silent c.2469 p.A823 0.174 NULL pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 67 0 0.00 51 10 16.39 - - - ASH2L 0 genome.wustl.edu 37 8 37996363 37996363 + Missense_Mutation SNP G G T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 8 37996363 37996363 G T SNP ASH2L ENST00000343823 human ensembl 69_37n +1 known missense c.1749 p.K583N 1.000 superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors ASH2L HGNC ENSG00000129691 309 0 0.00 224 60 21.13 - - - BRF1 0 genome.wustl.edu 37 14 105695250 105695250 + Missense_Mutation SNP G G A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 14 105695250 105695250 G A SNP BRF1 ENST00000546474 human ensembl 69_37n -1 known missense c.695 p.A232V 0.999 pfam_TFIIB_cyclin,superfamily_Cyclin-like,smart_Cyclin-like,prints_TFIIB pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,prints_TFIIB,pfscan_Znf_TFIIB - no_errors BRF1 HGNC ENSG00000185024 23 0 0.00 6 5 45.45 - - - C16orf91 0 genome.wustl.edu 37 16 1470148 1470148 + Silent SNP G G C TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 16 1470148 1470148 G C SNP C16orf91 ENST00000310355 human ensembl 69_37n -1 known silent c.867 p.L289 0.000 NULL prints_CCSMST1 - no_errors C16orf91 HGNC ENSG00000174109 75 0 0.00 34 22 39.29 - - - C1orf101 0 genome.wustl.edu 37 1 244798805 244798805 + Missense_Mutation SNP C C T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 1 244798805 244798805 C T SNP C1orf101 ENST00000366534 human ensembl 69_37n +1 known missense c.2663 p.T888I 0.072 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 90 0 0.00 65 8 10.96 - - - CCDC110 0 genome.wustl.edu 37 4 186383863 186383863 + Splice_Site SNP C C G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 4 186383863 186383863 C G SNP CCDC110 ENST00000307588 human ensembl 69_37n -1 known splice_site c.172-1 e4-1 1.000 - - - no_errors CCDC110 HGNC ENSG00000168491 69 0 0.00 12 21 63.64 - - - CD2 0 genome.wustl.edu 37 1 117297341 117297341 + Missense_Mutation SNP G G C TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 1 117297341 117297341 G C SNP CD2 ENST00000369478 human ensembl 69_37n +1 known missense c.150 p.M50I 0.000 pfam_Ig_V-set,prints_T-cell_sdhesion_molc_CD2 pfam_Ig_C2-set,pfam_Ig_V-set,prints_T-cell_sdhesion_molc_CD2 - no_errors CD2 HGNC ENSG00000116824 132 0 0.00 48 56 53.85 - - - COBLL1 0 genome.wustl.edu 37 2 165551305 165551305 + Missense_Mutation SNP G G C TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 2 165551305 165551305 G C SNP COBLL1 ENST00000194871 human ensembl 69_37n -1 known missense c.2912 p.S971C 1.000 NULL pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 88 0 0.00 77 42 35.29 - - - COPS8 0 genome.wustl.edu 37 2 237994668 237994668 + Missense_Mutation SNP G G A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 2 237994668 237994668 G A SNP COPS8 ENST00000354371 human ensembl 69_37n +1 known missense c.61 p.E21K 1.000 NULL pfam_COP9_signalosome_subunit_CSN8 - no_errors COPS8 HGNC ENSG00000198612 9 0 0.00 5 5 50.00 - - - CREB1 0 genome.wustl.edu 37 2 208434996 208434996 + Missense_Mutation SNP C C T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 2 208434996 208434996 C T SNP CREB1 ENST00000418081 human ensembl 69_37n +1 known missense c.296 p.P99L 0.998 NULL pfam_Coactivator_CBP_pKID,pfscan_Coactivator_CBP_pKID,prints_Leuzip_CREB - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CREB1 HGNC ENSG00000118260 267 0 0.00 206 73 26.16 - - - DIP2A 0 genome.wustl.edu 37 21 47904738 47904738 + Missense_Mutation SNP C C G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 21 47904738 47904738 C G SNP DIP2A ENST00000318711 human ensembl 69_37n +1 known missense c.160 p.Q54E 1.000 pfam_DMAP1-bd pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 24 0 0.00 17 5 22.73 - - - DNAJC6 0 genome.wustl.edu 37 1 65855273 65855273 + Nonsense_Mutation SNP C C A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 1 65855273 65855273 C A SNP DNAJC6 ENST00000371069 human ensembl 69_37n +1 known nonsense c.1431 p.Y477* 0.055 NULL pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors DNAJC6 HGNC ENSG00000116675 321 0 0.00 145 93 38.91 - - - DNMBP 0 genome.wustl.edu 37 10 101668763 101668763 + Missense_Mutation SNP G G A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 10 101668763 101668763 G A SNP DNMBP ENST00000342239 human ensembl 69_37n -1 known missense c.2401 p.R801W 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,prints_p67phox,prints_Spectrin_alpha_SH3,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors DNMBP HGNC ENSG00000107554 106 0 0.00 40 27 40.30 - - - DOCK7 0 genome.wustl.edu 37 1 62970310 62970310 + Missense_Mutation SNP C C G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 1 62970310 62970310 C G SNP DOCK7 ENST00000251157 human ensembl 69_37n -1 known missense c.4728 p.E1576D 1.000 superfamily_ARM-type_fold pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 104 0 0.00 55 46 45.54 - - - DST 0 genome.wustl.edu 37 6 56482819 56482819 + Missense_Mutation SNP C C T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 6 56482819 56482819 C T SNP DST ENST00000370765 human ensembl 69_37n -1 known missense c.6013 p.E2005K 0.992 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 187 0 0.00 118 99 45.62 - - - DYNLT3 0 genome.wustl.edu 37 X 37700304 37700304 + Missense_Mutation SNP C C G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 X 37700304 37700304 C G SNP DYNLT3 ENST00000378581 human ensembl 69_37n -1 known missense c.251 p.C84S 0.995 pfam_Tctex pfam_Tctex - no_errors DYNLT3 HGNC ENSG00000165169 133 0 0.00 54 24 30.77 - - - ECHDC1 0 genome.wustl.edu 37 6 127611347 127611347 + Missense_Mutation SNP G G T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 6 127611347 127611347 G T SNP ECHDC1 ENST00000436638 human ensembl 69_37n -1 novel missense c.614 p.P205H 0.288 pfam_Crotonase_core pfam_Crotonase_core - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ECHDC1 HGNC ENSG00000093144 223 0 0.00 47 78 62.40 - - - EFCAB6 0 genome.wustl.edu 37 22 43950819 43950819 + Missense_Mutation SNP G G A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 22 43950819 43950819 G A SNP EFCAB6 ENST00000262726 human ensembl 69_37n -1 known missense c.3578 p.T1193M 0.000 smart_EF_hand_Ca-bd pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB6 HGNC ENSG00000186976 87 0 0.00 49 25 33.78 - - - EFEMP1 0 genome.wustl.edu 37 2 56145073 56145073 + Missense_Mutation SNP C C T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 2 56145073 56145073 C T SNP EFEMP1 ENST00000355426 human ensembl 69_37n -1 known missense c.244 p.E82K 1.000 NULL pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_errors EFEMP1 HGNC ENSG00000115380 110 0 0.00 91 40 30.53 - - - EIF2AK3 0 genome.wustl.edu 37 2 88858435 88858435 + Missense_Mutation SNP C C A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 2 88858435 88858435 C A SNP EIF2AK3 ENST00000303236 human ensembl 69_37n -1 known missense c.3150 p.E1050D 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EIF2AK3 HGNC ENSG00000172071 63 0 0.00 28 20 41.67 - - - EIF2B3 0 genome.wustl.edu 37 1 45323458 45323458 + Silent SNP G G A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 1 45323458 45323458 G A SNP EIF2B3 ENST00000360403 human ensembl 69_37n -1 known silent c.1224 p.V408 1.000 NULL pfam_NTP_transferase - no_errors EIF2B3 HGNC ENSG00000070785 194 0 0.00 103 57 35.62 - - - EPHA7 0 genome.wustl.edu 37 6 93956553 93956553 + Missense_Mutation SNP G G C TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 6 93956553 93956553 G C SNP EPHA7 ENST00000369303 human ensembl 69_37n -1 known missense c.2683 p.R895G 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA7 HGNC ENSG00000135333 263 1 0.38 94 38 28.79 - - - FARP1 0 genome.wustl.edu 37 13 99083458 99083458 + Silent SNP C C T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 13 99083458 99083458 C T SNP FARP1 ENST00000376586 human ensembl 69_37n +1 known silent c.2067 p.L689 0.998 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP1 HGNC ENSG00000152767 17 0 0.00 8 20 71.43 - - - FBXL4 0 genome.wustl.edu 37 6 99322245 99322245 + Missense_Mutation SNP A A G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 6 99322245 99322245 A G SNP FBXL4 ENST00000229971 human ensembl 69_37n -1 known missense c.1775 p.V592A 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL4 HGNC ENSG00000112234 291 0 0.00 124 79 38.92 - - - FBXL7 0 genome.wustl.edu 37 5 15936870 15936870 + Missense_Mutation SNP C C T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 5 15936870 15936870 C T SNP FBXL7 ENST00000504595 human ensembl 69_37n +1 known missense c.1051 p.R351C 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL7 HGNC ENSG00000183580 31 0 0.00 35 15 29.41 - - - FDPS 0 genome.wustl.edu 37 1 155290280 155290280 + Silent SNP C C T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 1 155290280 155290280 C T SNP FDPS ENST00000356657 human ensembl 69_37n +1 known silent c.1140 p.F380 0.642 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 97 0 0.00 155 38 19.69 - - - GPR112 0 genome.wustl.edu 37 X 135429691 135429691 + Missense_Mutation SNP G G A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 X 135429691 135429691 G A SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known missense c.3826 p.E1276K 0.024 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 886 0 0.00 223 331 59.53 - - - GPR77 0 genome.wustl.edu 37 19 47844232 47844232 + Frame_Shift_Del DEL T T - TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 19 47844232 47844232 T - DEL GPR77 ENST00000257267 human ensembl 69_37n +1 known frame_shift_del c.176 p.V59fs 0.998 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_C5A_anaphtx_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_C5A_anaphtx_rcpt - no_errors GPR77 HGNC ENSG00000134830 28 0 0.00 32 19 36.54 - - - HAPLN4 0 genome.wustl.edu 37 19 19381108 19381108 + Missense_Mutation SNP C C T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 19 19381108 19381108 C T SNP HAPLN4 ENST00000586064 human ensembl 69_37n -1 known missense c.343 p.E115K 0.893 NULL NULL - no_errors AC138430.4 Clone_based_vega_gene ENSG00000267629 29 0 0.00 20 9 31.03 - - - HAUS8 0 genome.wustl.edu 37 19 17169632 17169632 + Missense_Mutation SNP G G C TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 19 17169632 17169632 G C SNP HAUS8 ENST00000253669 human ensembl 69_37n -1 known missense c.475 p.L159V 0.180 NULL NULL - no_errors HAUS8 HGNC ENSG00000131351 116 0 0.00 113 101 46.54 - - - HDAC1 0 genome.wustl.edu 37 1 32797323 32797323 + Missense_Mutation SNP G G T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 1 32797323 32797323 G T SNP HDAC1 ENST00000373548 human ensembl 69_37n +1 known missense c.1135 p.V379F 1.000 pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC1 HGNC ENSG00000116478 148 0 0.00 43 20 31.75 - - - HEATR3 0 genome.wustl.edu 37 16 50112756 50112756 + Nonsense_Mutation SNP G G T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 16 50112756 50112756 G T SNP HEATR3 ENST00000299192 human ensembl 69_37n +1 known nonsense c.868 p.E290* 0.007 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR3 HGNC ENSG00000155393 103 0 0.00 51 38 42.70 - - - IPMK 0 genome.wustl.edu 37 10 59956131 59956131 + Silent SNP C C T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 10 59956131 59956131 C T SNP IPMK ENST00000373935 human ensembl 69_37n -1 known silent c.957 p.A319 0.003 pfam_IPK pfam_IPK - no_errors IPMK HGNC ENSG00000151151 328 0 0.00 250 52 17.22 - - - ITGA11 0 genome.wustl.edu 37 15 68695306 68695306 + Missense_Mutation SNP C C T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 15 68695306 68695306 C T SNP ITGA11 ENST00000315757 human ensembl 69_37n -1 known missense c.115 p.A39T 0.961 smart_Int_alpha_beta-p 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 ITGA11 HGNC ENSG00000137809 39 0 0.00 7 18 72.00 - - - KCNH5 0 genome.wustl.edu 37 14 63416872 63416872 + Missense_Mutation SNP C C A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 14 63416872 63416872 C A SNP KCNH5 ENST00000322893 human ensembl 69_37n -1 known missense c.1348 p.V450L 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_EAG/ELK/ERG 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 373 0 0.00 158 56 26.17 - - - KIF5A 0 genome.wustl.edu 37 12 57976912 57976912 + Missense_Mutation SNP G G A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 12 57976912 57976912 G A SNP KIF5A ENST00000455537 human ensembl 69_37n +1 known missense c.3049 p.E1017K 1.000 NULL pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 59 0 0.00 40 24 37.50 - - - LGI3 0 genome.wustl.edu 37 8 22006360 22006360 + Missense_Mutation SNP G G C TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 8 22006360 22006360 G C SNP LGI3 ENST00000306317 human ensembl 69_37n -1 known missense c.960 p.D320E 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI3 HGNC ENSG00000168481 33 0 0.00 21 11 34.38 - - - MBD6 0 genome.wustl.edu 37 12 57921001 57921002 + Frame_Shift_Ins INS - - C TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 12 57921001 57921002 - C INS MBD6 ENST00000355673 human ensembl 69_37n +1 known frame_shift_ins c.2073_2074 p.Q693fs 0.564:0.764 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 23 0 0.00 10 2 16.67 - - - MGAT4C 0 genome.wustl.edu 37 12 86373693 86373693 + Missense_Mutation SNP G G A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 12 86373693 86373693 G A SNP MGAT4C ENST00000393205 human ensembl 69_37n -1 known missense c.898 p.R300C 1.000 pfam_Glyco_transf_54 pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 101 0 0.00 79 43 34.96 - - - MICALCL 0 genome.wustl.edu 37 11 12315451 12315451 + Missense_Mutation SNP G G T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 11 12315451 12315451 G T SNP MICALCL ENST00000256186 human ensembl 69_37n +1 known missense c.473 p.S158I 0.000 NULL pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ - no_errors MICALCL HGNC ENSG00000133808 199 0 0.00 214 50 18.94 - - - MPHOSPH8 0 genome.wustl.edu 37 13 20220931 20220931 + Missense_Mutation SNP A A T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 13 20220931 20220931 A T SNP MPHOSPH8 ENST00000414242 human ensembl 69_37n +1 known missense c.718 p.T240S 0.580 NULL pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow - no_errors MPHOSPH8 HGNC ENSG00000196199 172 0 0.00 68 76 52.78 - - - MTMR2 0 genome.wustl.edu 37 11 95583906 95583906 + Missense_Mutation SNP G G A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 11 95583906 95583906 G A SNP MTMR2 ENST00000346299 human ensembl 69_37n -1 known missense c.662 p.P221L 1.000 NULL pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors MTMR2 HGNC ENSG00000087053 272 0 0.00 127 49 27.68 - - - MUC16 0 genome.wustl.edu 37 19 9062300 9062300 + Missense_Mutation SNP C C A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 19 9062300 9062300 C A SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.25146 p.M8382I 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 246 0 0.00 244 142 36.60 - - - MUC6 0 genome.wustl.edu 37 11 1015883 1015883 + Frame_Shift_Del DEL C C - TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 11 1015883 1015883 C - DEL MUC6 ENST00000421673 human ensembl 69_37n -1 known frame_shift_del c.6918 p.R2306fs 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 16 0 0.00 11 6 35.29 - - - MUC6 0 genome.wustl.edu 37 11 1015892 1015893 + Frame_Shift_Ins INS - - G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 11 1015892 1015893 - G INS MUC6 ENST00000421673 human ensembl 69_37n -1 known frame_shift_ins c.6909_6908 p.T2304fs 0.146:0.046 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 14 0 0.00 9 6 40.00 - - - MYH14 0 genome.wustl.edu 37 19 50735280 50735280 + Missense_Mutation SNP C C G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 19 50735280 50735280 C G SNP MYH14 ENST00000262269 human ensembl 69_37n +1 known missense c.1067 p.T356R 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 66 0 0.00 21 15 41.67 - - - MYOM3 0 genome.wustl.edu 37 1 24384096 24384096 + Missense_Mutation SNP C C T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 1 24384096 24384096 C T SNP MYOM3 ENST00000330966 human ensembl 69_37n -1 known missense c.4081 p.V1361I 0.877 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,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 MYOM3 HGNC ENSG00000142661 88 0 0.00 61 32 34.41 - - - NAP1L2 0 genome.wustl.edu 37 X 72433777 72433777 + Silent SNP C C T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 X 72433777 72433777 C T SNP NAP1L2 ENST00000373517 human ensembl 69_37n -1 known silent c.552 p.E184 0.100 pfam_NAP_family pfam_NAP_family - no_errors NAP1L2 HGNC ENSG00000186462 352 0 0.00 80 145 64.44 - - - NIPBL 0 genome.wustl.edu 37 5 36985957 36985957 + Missense_Mutation SNP G G T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 5 36985957 36985957 G T SNP NIPBL ENST00000282516 human ensembl 69_37n +1 known missense c.2675 p.S892I 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 235 0 0.00 379 142 27.26 - - - NOD2 0 genome.wustl.edu 37 16 50733855 50733855 + Missense_Mutation SNP C C G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 16 50733855 50733855 C G SNP NOD2 ENST00000300589 human ensembl 69_37n +1 known missense c.530 p.P177R 0.295 pfam_CARD,superfamily_DEATH-like,pfscan_CARD pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 50 0 0.00 20 15 42.86 - - - OR1A2 0 genome.wustl.edu 37 17 3101670 3101670 + Missense_Mutation SNP C C G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 17 3101670 3101670 C G SNP OR1A2 ENST00000381951 human ensembl 69_37n +1 known missense c.858 p.F286L 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR1A2 HGNC ENSG00000172150 332 0 0.00 82 105 56.15 - - - OR5H1 0 genome.wustl.edu 37 3 97851825 97851825 + Missense_Mutation SNP C C G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 3 97851825 97851825 C G SNP OR5H1 ENST00000354565 human ensembl 69_37n +1 known missense c.284 p.S95C 0.004 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5H1 HGNC ENSG00000231192 625 0 0.00 346 185 34.77 - - - PHF8 0 genome.wustl.edu 37 X 54014274 54014274 + Missense_Mutation SNP C C G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 X 54014274 54014274 C G SNP PHF8 ENST00000357988 human ensembl 69_37n -1 known missense c.1942 p.D648H 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC ENSG00000172943 101 0 0.00 18 31 63.27 - - - PLA2G4A 0 genome.wustl.edu 37 1 186901903 186901903 + Silent SNP G G T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 1 186901903 186901903 G T SNP PLA2G4A ENST00000367466 human ensembl 69_37n +1 known silent c.567 p.V189 1.000 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4A HGNC ENSG00000116711 138 0 0.00 123 29 19.08 - - - PLA2G4F 0 genome.wustl.edu 37 15 42442039 42442039 + Missense_Mutation SNP C C T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 15 42442039 42442039 C T SNP PLA2G4F ENST00000397272 human ensembl 69_37n -1 known missense c.931 p.D311N 1.000 smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 44 0 0.00 18 8 30.77 - - - POLR2F 0 genome.wustl.edu 37 22 38422077 38422077 + Missense_Mutation SNP G G T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 22 38422077 38422077 G T SNP POLR2F ENST00000333418 human ensembl 69_37n +1 putative missense c.322 p.G108C 0.000 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region POLR2F HGNC ENSG00000100142 106 0 0.00 73 38 34.23 - - - PON3 0 genome.wustl.edu 37 7 94993187 94993187 + Missense_Mutation SNP G G A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 7 94993187 94993187 G A SNP PON3 ENST00000265627 human ensembl 69_37n -1 known missense c.683 p.S228L 1.000 pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON3 HGNC ENSG00000105852 350 0 0.00 240 131 35.31 - - - PQBP1 0 genome.wustl.edu 37 X 48760064 48760064 + Missense_Mutation SNP C C T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 X 48760064 48760064 C T SNP PQBP1 ENST00000456306 human ensembl 69_37n +1 known missense c.314 p.T105M 0.994 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PQBP1 HGNC ENSG00000102103 29 0 0.00 5 12 70.59 - - - PRKDC 0 genome.wustl.edu 37 8 48765336 48765336 + Missense_Mutation SNP C C A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 8 48765336 48765336 C A SNP PRKDC ENST00000314191 human ensembl 69_37n -1 known missense c.6900 p.Q2300H 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 21 0 0.00 9 5 35.71 - - - PRSS38 0 genome.wustl.edu 37 1 228005112 228005112 + Missense_Mutation SNP G G T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 1 228005112 228005112 G T SNP PRSS38 ENST00000366757 human ensembl 69_37n +1 known missense c.514 p.A172S 0.000 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS38 HGNC ENSG00000185888 55 0 0.00 43 21 32.81 - - - PRSS38 0 genome.wustl.edu 37 1 228005113 228005113 + Missense_Mutation SNP C C T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 1 228005113 228005113 C T SNP PRSS38 ENST00000366757 human ensembl 69_37n +1 known missense c.515 p.A172V 0.008 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS38 HGNC ENSG00000185888 55 0 0.00 44 22 33.33 - - - RFX7 0 genome.wustl.edu 37 15 56387080 56387080 + Missense_Mutation SNP G G A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 15 56387080 56387080 G A SNP RFX7 ENST00000423270 human ensembl 69_37n -1 known missense c.2846 p.T949I 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 75 0 0.00 26 35 57.38 - - - RNF219 0 genome.wustl.edu 37 13 79190455 79190455 + Missense_Mutation SNP C C G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 13 79190455 79190455 C G SNP RNF219 ENST00000282003 human ensembl 69_37n -1 known missense c.1441 p.E481Q 1.000 NULL pfscan_Znf_RING - no_errors RNF219 HGNC ENSG00000152193 277 0 0.00 209 130 38.35 - - - ROR1 0 genome.wustl.edu 37 1 64515374 64515374 + Missense_Mutation SNP A A T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 1 64515374 64515374 A T SNP ROR1 ENST00000371079 human ensembl 69_37n +1 known missense c.175 p.T59S 0.998 pirsf_Tyr_kinase_rcpt_ROR,pfscan_Ig-like pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors ROR1 HGNC ENSG00000185483 172 0 0.00 142 42 22.83 - - - SCUBE2 0 genome.wustl.edu 37 11 9080884 9080884 + Missense_Mutation SNP T T C TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 11 9080884 9080884 T C SNP SCUBE2 ENST00000519788 human ensembl 69_37n -1 novel missense c.227 p.D76G 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SCUBE2 HGNC ENSG00000175356 45 0 0.00 26 20 42.55 - - - SLC44A5 0 genome.wustl.edu 37 1 75693466 75693466 + Silent SNP C C T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 1 75693466 75693466 C T SNP SLC44A5 ENST00000370855 human ensembl 69_37n -1 known silent c.930 p.G310 0.992 NULL pfam_Choline_transptr-like - no_errors SLC44A5 HGNC ENSG00000137968 122 0 0.00 77 17 18.09 - - - SNORA14B 0 genome.wustl.edu 37 1 235291201 235291201 + RNA SNP C C T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 1 235291201 235291201 C T SNP SNORA14B ENST00000384452 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors SNORA14B HGNC ENSG00000207181 106 0 0.00 53 41 43.62 - - - SNRPC 0 genome.wustl.edu 37 6 34738134 34738134 + Missense_Mutation SNP T T C TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 6 34738134 34738134 T C SNP SNRPC ENST00000374017 human ensembl 69_37n +1 known missense c.380 p.M127T 1.000 pirsf_U1_snRNP-C pfam_Znf_U1-C,smart_Znf_U1,pirsf_U1_snRNP-C,pfscan_Znf_C2H2_matrin - no_errors SNRPC HGNC ENSG00000124562 88 0 0.00 51 9 15.00 - - - SP1 0 genome.wustl.edu 37 12 53775484 53775484 + Missense_Mutation SNP A A T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 12 53775484 53775484 A T SNP SP1 ENST00000327443 human ensembl 69_37n +1 known missense c.49 p.I17F 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC ENSG00000185591 69 0 0.00 18 7 28.00 - - - SUGP1 0 genome.wustl.edu 37 19 19391074 19391074 + Missense_Mutation SNP C C T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 19 19391074 19391074 C T SNP SUGP1 ENST00000247001 human ensembl 69_37n -1 known missense c.1270 p.E424K 1.000 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP1 HGNC ENSG00000105705 38 0 0.00 27 7 20.59 - - - THSD7B 0 genome.wustl.edu 37 2 138000128 138000128 + Missense_Mutation SNP G G A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 2 138000128 138000128 G A SNP THSD7B ENST00000272643 human ensembl 69_37n +1 known missense c.2252 p.R751K 0.004 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 61 0 0.00 44 23 34.33 - - - TP53 0 genome.wustl.edu 37 17 7578460 7578461 + Frame_Shift_Ins INS - - G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 17 7578460 7578461 - G INS TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_ins c.470_469 p.V157fs 0.906:0.032 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 76 0 0.00 21 16 43.24 - - - TP53 0 genome.wustl.edu 37 17 7578465 7578465 + Silent SNP G G T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 17 7578465 7578465 G T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known silent c.465 p.T155 0.012 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 87 0 0.00 19 22 52.38 - - - TRAF3IP3 0 genome.wustl.edu 37 1 209951472 209951472 + Silent SNP A A G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 1 209951472 209951472 A G SNP TRAF3IP3 ENST00000367024 human ensembl 69_37n +1 known silent c.1206 p.S402 0.997 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 240 0 0.00 134 21 13.46 - - - TRAPPC2 0 genome.wustl.edu 37 X 13734771 13734771 + Missense_Mutation SNP G G C TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 X 13734771 13734771 G C SNP TRAPPC2 ENST00000453655 human ensembl 69_37n -1 known missense c.120 p.F40L 1.000 pfam_Sedlin,superfamily_Longin-like_dom pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC2 HGNC ENSG00000196459 63 0 0.00 13 20 60.61 - - - TRIT1 0 genome.wustl.edu 37 1 40307548 40307548 + Missense_Mutation SNP C C G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 1 40307548 40307548 C G SNP TRIT1 ENST00000316891 human ensembl 69_37n -1 known missense c.1272 p.K424N 1.000 smart_Znf_U1 pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase - no_errors TRIT1 HGNC ENSG00000043514 233 0 0.00 145 90 38.30 - - - TTN 0 genome.wustl.edu 37 2 179449464 179449464 + Missense_Mutation SNP C C G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 2 179449464 179449464 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.57200 p.R19067P 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 330 0 0.00 292 46 13.61 - - - TTPA 0 genome.wustl.edu 37 8 63978649 63978649 + Missense_Mutation SNP C C G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 8 63978649 63978649 C G SNP TTPA ENST00000260116 human ensembl 69_37n -1 known missense c.366 p.W122C 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPA HGNC ENSG00000137561 108 0 0.00 84 30 26.32 - - - USP34 0 genome.wustl.edu 37 2 61622132 61622132 + Silent SNP T T C TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 2 61622132 61622132 T C SNP USP34 ENST00000398571 human ensembl 69_37n -1 known silent c.609 p.V203 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 101 0 0.00 47 33 41.25 - - - WBSCR28 0 genome.wustl.edu 37 7 73279502 73279502 + Missense_Mutation SNP A A G TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 7 73279502 73279502 A G SNP WBSCR28 ENST00000320531 human ensembl 69_37n +1 known missense c.252 p.I84M 0.000 NULL NULL - no_errors WBSCR28 HGNC ENSG00000175877 125 0 0.00 89 38 29.69 - - - ZGLP1 0 genome.wustl.edu 37 19 10415800 10415800 + Nonsense_Mutation SNP A A T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 19 10415800 10415800 A T SNP ZGLP1 ENST00000403903 human ensembl 69_37n -1 known nonsense c.783 p.C261* 0.995 NULL pfam_Znf_GATA,smart_Znf_GATA,prints_Znf_GATA,pfscan_Znf_GATA - no_errors ZGLP1 HGNC ENSG00000220201 27 0 0.00 13 6 31.58 - - - ZNF578 0 genome.wustl.edu 37 19 53007922 53007922 + Silent SNP C C T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 19 53007922 53007922 C T SNP ZNF578 ENST00000421239 human ensembl 69_37n +1 known silent c.78 p.F26 0.835 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF578 HGNC ENSG00000258405 371 2 0.54 193 201 50.89 - - - ZNF626 0 genome.wustl.edu 37 19 20807492 20807492 + Nonsense_Mutation SNP G G C TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 19 20807492 20807492 G C SNP ZNF626 ENST00000305570 human ensembl 69_37n -1 known nonsense c.1191 p.Y397* 0.222 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 ZNF626 HGNC ENSG00000188171 438 0 0.00 289 173 37.45 - - - ZNF71 0 genome.wustl.edu 37 19 57133197 57133197 + Missense_Mutation SNP C C T TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b988737-0504-42bb-8c75-d70d7a312e68 02ed13b6-5cc2-423d-9b5a-b1c802c33569 19 57133197 57133197 C T SNP ZNF71 ENST00000328070 human ensembl 69_37n +1 known missense c.542 p.T181M 0.994 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 69 0 0.00 47 29 37.66 - - -