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 ABCA3 0 genome.wustl.edu 37 16 2345608 2345608 + Silent SNP G G C TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 16 2345608 2345608 G C SNP ABCA3 ENST00000301732 human ensembl 69_37n -1 known silent c.2397 p.P799 0.998 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 34 0 0.00 49 6 10.91 - - - ADAMTS10 0 genome.wustl.edu 37 19 8651509 8651509 + Missense_Mutation SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 19 8651509 8651509 C T SNP ADAMTS10 ENST00000270328 human ensembl 69_37n -1 known missense c.2336 p.R779Q 0.999 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 33 0 0.00 12 7 36.84 - - - ADAMTS19 0 genome.wustl.edu 37 5 129001204 129001204 + Missense_Mutation SNP T T A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 5 129001204 129001204 T A SNP ADAMTS19 ENST00000274487 human ensembl 69_37n +1 known missense c.2420 p.V807E 0.999 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 55 0 0.00 43 36 45.57 - - - AGAP6 0 genome.wustl.edu 37 10 51769464 51769464 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 10 51769464 51769464 G A SNP AGAP6 ENST00000374056 human ensembl 69_37n +1 known missense c.1579 p.E527K 1.000 pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ENSG00000204149 239 0 0.00 107 117 52.23 - - - AKAP11 0 genome.wustl.edu 37 13 42876457 42876457 + Nonsense_Mutation SNP C C G TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 13 42876457 42876457 C G SNP AKAP11 ENST00000025301 human ensembl 69_37n +1 known nonsense c.3575 p.S1192* 0.997 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 156 0 0.00 113 50 30.67 - - - AMMECR1L 0 genome.wustl.edu 37 2 128628473 128628474 + Frame_Shift_Ins INS - - G TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 2 128628473 128628474 - G INS AMMECR1L ENST00000272647 human ensembl 69_37n -1 known frame_shift_ins c.548_547 p.L183fs 1.000:1.000 pfam_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 pfam_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 - no_errors AMMECR1L HGNC ENSG00000144233 30 0 0.00 36 4 10.00 - - - ARG2 0 genome.wustl.edu 37 14 68087661 68087661 + Silent SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 14 68087661 68087661 G A SNP ARG2 ENST00000261783 human ensembl 69_37n +1 known silent c.162 p.L54 0.998 pfam_Ureohydrolase,tigrfam_Arginase pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase - no_errors ARG2 HGNC ENSG00000081181 141 0 0.00 125 40 24.24 - - - ASB1 0 genome.wustl.edu 37 2 239353148 239353148 + Silent SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 2 239353148 239353148 C T SNP ASB1 ENST00000264607 human ensembl 69_37n +1 known silent c.660 p.F220 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB1 HGNC ENSG00000065802 41 0 0.00 17 45 72.58 - - - ASH2L 0 genome.wustl.edu 37 8 37967942 37967942 + Silent SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 8 37967942 37967942 C T SNP ASH2L ENST00000343823 human ensembl 69_37n +1 known silent c.447 p.V149 0.434 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors ASH2L HGNC ENSG00000129691 70 0 0.00 51 32 38.55 - - - C11orf9 0 genome.wustl.edu 37 11 61539012 61539013 + Frame_Shift_Ins INS - - C TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 11 61539012 61539013 - C INS C11orf9 ENST00000278836 human ensembl 69_37n +1 known frame_shift_ins c.781_782 p.S264fs 1.000:1.000 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors C11orf9 HGNC ENSG00000124920 44 0 0.00 22 3 12.00 - - - C4orf19 0 genome.wustl.edu 37 4 37591780 37591780 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 4 37591780 37591780 G A SNP C4orf19 ENST00000284437 human ensembl 69_37n +1 known missense c.103 p.E35K 0.972 NULL NULL - no_errors C4orf19 HGNC ENSG00000154274 207 0 0.00 245 52 17.51 - - - CABP5 0 genome.wustl.edu 37 19 48537515 48537515 + Silent SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 19 48537515 48537515 G A SNP CABP5 ENST00000293255 human ensembl 69_37n -1 known silent c.453 p.V151 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CABP5 HGNC ENSG00000105507 36 0 0.00 29 36 52.94 - - - CD163L1 0 genome.wustl.edu 37 12 7522120 7522120 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 12 7522120 7522120 G A SNP CD163L1 ENST00000313599 human ensembl 69_37n -1 known missense c.3872 p.S1291F 0.001 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163L1 HGNC ENSG00000177675 321 0 0.00 101 123 54.91 - - - COL10A1 0 genome.wustl.edu 37 6 116442021 116442021 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 6 116442021 116442021 G A SNP COL10A1 ENST00000243222 human ensembl 69_37n -1 known missense c.1258 p.L420F 0.950 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL10A1 HGNC ENSG00000123500 79 0 0.00 39 14 26.42 - - - COL28A1 0 genome.wustl.edu 37 7 7412809 7412809 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 7 7412809 7412809 G A SNP COL28A1 ENST00000399429 human ensembl 69_37n -1 known missense c.2728 p.R910C 0.927 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 147 0 0.00 101 32 24.06 - - - CPAMD8 0 genome.wustl.edu 37 19 17108122 17108122 + Missense_Mutation SNP G G T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 19 17108122 17108122 G T SNP CPAMD8 ENST00000443236 human ensembl 69_37n -1 known missense c.1067 p.S356Y 1.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CPAMD8 HGNC ENSG00000160111 10 0 0.00 5 5 50.00 - - - DDHD2 0 genome.wustl.edu 37 8 38117635 38117635 + Missense_Mutation SNP A A G TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 8 38117635 38117635 A G SNP DDHD2 ENST00000397166 human ensembl 69_37n +1 known missense c.2132 p.Q711R 0.972 NULL pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom - no_errors DDHD2 HGNC ENSG00000085788 116 0 0.00 158 40 20.20 - - - DGUOK 0 genome.wustl.edu 37 2 74154071 74154071 + Nonsense_Mutation SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 2 74154071 74154071 C T SNP DGUOK ENST00000264093 human ensembl 69_37n +1 known nonsense c.34 p.R12* 0.302 NULL pfam_Deoxynucleoside_kinase - no_errors DGUOK HGNC ENSG00000114956 21 0 0.00 22 6 21.43 - - - DNAH2 0 genome.wustl.edu 37 17 7690336 7690336 + Silent SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 17 7690336 7690336 C T SNP DNAH2 ENST00000389173 human ensembl 69_37n +1 known silent c.6588 p.I2196 0.472 pfam_ATPase_dyneun-rel_AAA pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 22 0 0.00 36 81 68.64 - - - FAM120C 0 genome.wustl.edu 37 X 54112178 54112178 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 X 54112178 54112178 G A SNP FAM120C ENST00000375180 human ensembl 69_37n -1 known missense c.2809 p.P937S 1.000 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 83 0 0.00 48 65 57.52 - - - FASTKD2 0 genome.wustl.edu 37 2 207639085 207639085 + Missense_Mutation SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 2 207639085 207639085 C T SNP FASTKD2 ENST00000236980 human ensembl 69_37n +1 known missense c.1391 p.S464F 1.000 pfam_FAST_Leu-rich pfam_FAST_Leu-rich,pfam_FAST_2,pfam_RAP,smart_RAP - no_errors FASTKD2 HGNC ENSG00000118246 239 1 0.42 86 101 54.01 - - - FAT4 0 genome.wustl.edu 37 4 126370964 126370964 + Missense_Mutation SNP G G C TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 4 126370964 126370964 G C SNP FAT4 ENST00000394329 human ensembl 69_37n +1 known missense c.8793 p.Q2931H 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 198 0 0.00 91 28 23.53 - - - FOLR4 0 genome.wustl.edu 37 11 94039800 94039800 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 11 94039800 94039800 G A SNP FOLR4 ENST00000440961 human ensembl 69_37n +1 novel missense c.260 p.R87Q 0.982 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR4 HGNC ENSG00000183560 279 0 0.00 103 67 39.41 - - - FREM2 0 genome.wustl.edu 37 13 39425221 39425221 + Missense_Mutation SNP A A G TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 13 39425221 39425221 A G SNP FREM2 ENST00000280481 human ensembl 69_37n +1 known missense c.6718 p.I2240V 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 200 0 0.00 117 19 13.97 - - - FZD9 0 genome.wustl.edu 37 7 72849171 72849171 + Silent SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 7 72849171 72849171 G A SNP FZD9 ENST00000344575 human ensembl 69_37n +1 known silent c.834 p.S278 0.954 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD9 HGNC ENSG00000188763 28 0 0.00 8 6 42.86 - - - GLT8D1 0 genome.wustl.edu 37 3 52730613 52730613 + Missense_Mutation SNP T T G TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 3 52730613 52730613 T G SNP GLT8D1 ENST00000266014 human ensembl 69_37n -1 known missense c.392 p.K131T 0.218 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D1 HGNC ENSG00000016864 61 0 0.00 38 29 43.28 - - - GPD2 0 genome.wustl.edu 37 2 157439307 157439307 + Silent SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 2 157439307 157439307 G A SNP GPD2 ENST00000310454 human ensembl 69_37n +1 known silent c.2061 p.L687 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_Ca-bd,prints_G3P_DH_FAD-dep,pfscan_EF_HAND_2 - no_errors GPD2 HGNC ENSG00000115159 212 0 0.00 53 61 53.51 - - - GPR126 0 genome.wustl.edu 37 6 142721681 142721681 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 6 142721681 142721681 G A SNP GPR126 ENST00000367609 human ensembl 69_37n +1 known missense c.1627 p.E543K 0.006 NULL pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 54 0 0.00 25 7 21.88 - - - HEG1 0 genome.wustl.edu 37 3 124746131 124746131 + Missense_Mutation SNP C C G TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 3 124746131 124746131 C G SNP HEG1 ENST00000311127 human ensembl 69_37n -1 known missense c.831 p.K277N 0.104 NULL pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 73 0 0.00 58 51 46.36 - - - HYDIN 0 genome.wustl.edu 37 16 71052229 71052230 + Frame_Shift_Ins INS - - A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 16 71052229 71052230 - A INS HYDIN ENST00000316490 human ensembl 69_37n -1 known frame_shift_ins c.3447_3446 p.E1149fs 1.000:1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 36 0 0.00 18 4 18.18 - - - IKZF4 0 genome.wustl.edu 37 12 56428780 56428780 + Nonsense_Mutation SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 12 56428780 56428780 C T SNP IKZF4 ENST00000262032 human ensembl 69_37n +1 known nonsense c.1423 p.Q475* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF4 HGNC ENSG00000123411 43 0 0.00 50 25 32.89 - - - IMPG2 0 genome.wustl.edu 37 3 100976551 100976551 + Silent SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 3 100976551 100976551 G A SNP IMPG2 ENST00000193391 human ensembl 69_37n -1 known silent c.975 p.L325 0.996 pfam_SEA,smart_SEA pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG2 HGNC ENSG00000081148 260 0 0.00 156 115 42.44 - - - ITGB3 0 genome.wustl.edu 37 17 45361815 45361815 + Missense_Mutation SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 17 45361815 45361815 C T SNP ITGB3 ENST00000262017 human ensembl 69_37n +1 known missense c.368 p.S123L 0.999 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB3 HGNC ENSG00000259207 146 0 0.00 188 60 24.19 - - - KAT6A 0 genome.wustl.edu 37 8 41792232 41792232 + Missense_Mutation SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 8 41792232 41792232 C T SNP KAT6A ENST00000265713 human ensembl 69_37n -1 known missense c.3506 p.R1169Q 0.998 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 227 0 0.00 256 72 21.95 - - - KCNJ8 0 genome.wustl.edu 37 12 21919223 21919223 + Missense_Mutation SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 12 21919223 21919223 C T SNP KCNJ8 ENST00000240662 human ensembl 69_37n -1 known missense c.709 p.E237K 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC ENSG00000121361 246 0 0.00 67 104 60.82 - - - KCNT1 0 genome.wustl.edu 37 9 138646986 138646986 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 9 138646986 138646986 G A SNP KCNT1 ENST00000298480 human ensembl 69_37n +1 known missense c.511 p.E171K 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT1 HGNC ENSG00000107147 15 0 0.00 7 8 53.33 - - - KIAA0528 0 genome.wustl.edu 37 12 22671004 22671004 + Missense_Mutation SNP G G C TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 12 22671004 22671004 G C SNP KIAA0528 ENST00000333957 human ensembl 69_37n -1 known missense c.868 p.Q290E 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors KIAA0528 HGNC ENSG00000111731 191 0 0.00 141 42 22.95 - - - KTI12 0 genome.wustl.edu 37 1 52499148 52499148 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 1 52499148 52499148 G A SNP KTI12 ENST00000371614 human ensembl 69_37n -1 known missense c.286 p.R96W 0.999 pfam_Chromatin_KTI12 pfam_Chromatin_KTI12 - no_errors KTI12 HGNC ENSG00000198841 22 0 0.00 23 6 20.69 - - - LAMP2 0 genome.wustl.edu 37 X 119589362 119589362 + Nonsense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 X 119589362 119589362 G A SNP LAMP2 ENST00000434600 human ensembl 69_37n -1 known nonsense c.247 p.Q83* 0.000 NULL pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP2 HGNC ENSG00000005893 273 0 0.00 184 77 29.50 - - - LILRA4 0 genome.wustl.edu 37 19 54849301 54849301 + Missense_Mutation SNP G G C TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 19 54849301 54849301 G C SNP LILRA4 ENST00000291759 human ensembl 69_37n -1 known missense c.561 p.F187L 0.000 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA4 HGNC ENSG00000239961 15 0 0.00 17 22 56.41 - - - LRRC71 0 genome.wustl.edu 37 1 156897417 156897417 + Silent SNP C C A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 1 156897417 156897417 C A SNP LRRC71 ENST00000337428 human ensembl 69_37n +1 known silent c.792 p.I264 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC71 HGNC ENSG00000160838 18 0 0.00 15 12 44.44 - - - MAGEC3 0 genome.wustl.edu 37 X 140969422 140969422 + Missense_Mutation SNP A A G TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 X 140969422 140969422 A G SNP MAGEC3 ENST00000298296 human ensembl 69_37n +1 known missense c.749 p.Y250C 0.002 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 368 0 0.00 219 72 24.74 - - - MAK 0 genome.wustl.edu 37 6 10791936 10791936 + Frame_Shift_Del DEL C C - TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 6 10791936 10791936 C - DEL MAK ENST00000313243 human ensembl 69_37n -1 known frame_shift_del c.1288 p.E430fs 0.996 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 MAK HGNC ENSG00000111837 79 0 0.00 50 36 37.11 - - - MAP2K4 0 genome.wustl.edu 37 17 12028614 12028614 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 17 12028614 12028614 G A SNP MAP2K4 ENST00000415385 human ensembl 69_37n +1 known missense c.850 p.E284K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_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 MAP2K4 HGNC ENSG00000065559 128 0 0.00 14 55 79.71 - - - MAP3K13 0 genome.wustl.edu 37 3 185181413 185181413 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 3 185181413 185181413 G A SNP MAP3K13 ENST00000265026 human ensembl 69_37n +1 known missense c.1354 p.E452K 1.000 pirsf_MAP3K12_MAP3K13,superfamily_Kinase-like_dom pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K13 HGNC ENSG00000073803 137 0 0.00 84 85 50.30 - - - MAT1A 0 genome.wustl.edu 37 10 82034286 82034286 + Missense_Mutation SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 10 82034286 82034286 C T SNP MAT1A ENST00000372206 human ensembl 69_37n -1 known missense c.1075 p.V359I 0.997 pfam_S-AdoMet_synt_C,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT1A HGNC ENSG00000151224 72 0 0.00 31 45 59.21 - - - MIR16-2 0 genome.wustl.edu 37 3 160122611 160122611 + RNA SNP G G T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 3 160122611 160122611 G T SNP MIR16-2 ENST00000362117 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors MIR16-2 HGNC ENSG00000198987 16 0 0.00 11 6 35.29 - - - MRPL9 0 genome.wustl.edu 37 1 151735572 151735573 + Frame_Shift_Ins INS - - C TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 1 151735572 151735573 - C INS MRPL9 ENST00000368830 human ensembl 69_37n -1 known frame_shift_ins c.204_203 p.R69fs 1.000:1.000 NULL pfam_Ribosomal_L9_N,superfamily_Ribosomal_L9/RNase_H1_N - no_errors MRPL9 HGNC ENSG00000143436 32 0 0.00 60 7 10.45 - - - MUC16 0 genome.wustl.edu 37 19 9073597 9073597 + Missense_Mutation SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 19 9073597 9073597 C T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.13849 p.E4617K 0.004 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 166 0 0.00 148 85 36.48 - - - MUSK 0 genome.wustl.edu 37 9 113547808 113547808 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 9 113547808 113547808 G A SNP MUSK ENST00000189978 human ensembl 69_37n +1 known missense c.1606 p.E536K 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 272 0 0.00 188 121 39.16 - - - NCOR1 0 genome.wustl.edu 37 17 15989751 15989751 + Nonsense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 17 15989751 15989751 G A SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known nonsense c.3022 p.Q1008* 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 107 0 0.00 20 48 70.59 - - - NDUFA13 0 genome.wustl.edu 37 19 19626972 19626972 + Missense_Mutation SNP T T A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 19 19626972 19626972 T A SNP NDUFA13 ENST00000252576 human ensembl 69_37n +1 known missense c.174 p.S58R 0.000 NULL pfam_GRIM-19 - no_errors NDUFA13 HGNC ENSG00000186010 19 0 0.00 9 14 60.87 - - - NLGN3 0 genome.wustl.edu 37 X 70367894 70367894 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 X 70367894 70367894 G A SNP NLGN3 ENST00000358741 human ensembl 69_37n +1 known missense c.295 p.A99T 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 30 0 0.00 30 13 30.23 - - - NOL6 0 genome.wustl.edu 37 9 33466347 33466347 + Missense_Mutation SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 9 33466347 33466347 C T SNP NOL6 ENST00000297990 human ensembl 69_37n -1 known missense c.2168 p.R723Q 0.960 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 40 0 0.00 25 18 40.91 - - - NRK 0 genome.wustl.edu 37 X 105139453 105139453 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 X 105139453 105139453 G A SNP NRK ENST00000428173 human ensembl 69_37n +1 known missense c.517 p.V173I 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors NRK HGNC ENSG00000123572 247 0 0.00 189 52 21.58 - - - NSF 0 genome.wustl.edu 37 17 44791323 44791323 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 17 44791323 44791323 G A SNP NSF ENST00000398238 human ensembl 69_37n +1 known missense c.1732 p.E578K 1.000 pfam_ATPase_AAA_core,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Cdc48_dom2,pfam_CDC4_N-term_subdom,pfam_ATPase_AAA-2,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase - no_errors NSF HGNC ENSG00000073969 78 0 0.00 77 67 46.53 - - - OCRL 0 genome.wustl.edu 37 X 128701282 128701282 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 X 128701282 128701282 G A SNP OCRL ENST00000371113 human ensembl 69_37n +1 known missense c.1408 p.E470K 0.969 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC ENSG00000122126 164 0 0.00 126 32 20.25 - - - ODZ1 0 genome.wustl.edu 37 X 123654414 123654414 + Missense_Mutation SNP T T G TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 X 123654414 123654414 T G SNP ODZ1 ENST00000422452 human ensembl 69_37n -1 known missense c.3254 p.K1085T 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD - no_errors ODZ1 HGNC ENSG00000009694 450 0 0.00 232 91 28.17 - - - OR14C36 0 genome.wustl.edu 37 1 248512379 248512379 + Silent SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 1 248512379 248512379 C T SNP OR14C36 ENST00000317861 human ensembl 69_37n +1 known silent c.303 p.L101 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,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 OR14C36 HGNC ENSG00000177174 201 0 0.00 198 31 13.42 - - - OSCP1 0 genome.wustl.edu 37 1 36894016 36894016 + Nonsense_Mutation SNP C C A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 1 36894016 36894016 C A SNP OSCP1 ENST00000354267 human ensembl 69_37n -1 known nonsense c.577 p.G193* 0.001 NULL pfam_OSCP1 - no_errors OSCP1 HGNC ENSG00000116885 107 0 0.00 70 63 47.37 - - - PCDHB14 0 genome.wustl.edu 37 5 140604697 140604697 + Silent SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 5 140604697 140604697 G A SNP PCDHB14 ENST00000239449 human ensembl 69_37n +1 known silent c.1620 p.A540 0.631 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 47 0 0.00 23 21 47.73 - - - PCDHB7 0 genome.wustl.edu 37 5 140553379 140553379 + Silent SNP C C G TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 5 140553379 140553379 C G SNP PCDHB7 ENST00000231137 human ensembl 69_37n +1 known silent c.963 p.A321 0.393 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 82 0 0.00 41 22 34.92 - - - PHC3 0 genome.wustl.edu 37 3 169846805 169846805 + Silent SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 3 169846805 169846805 G A SNP PHC3 ENST00000495893 human ensembl 69_37n -1 known silent c.1455 p.A485 0.048 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC3 HGNC ENSG00000173889 76 0 0.00 57 32 35.96 - - - PIK3CA 0 genome.wustl.edu 37 3 178936094 178936094 + Missense_Mutation SNP C C A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 3 178936094 178936094 C A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1636 p.Q546K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 87 0 0.00 72 42 36.84 - - - PIKFYVE 0 genome.wustl.edu 37 2 209163498 209163498 + Missense_Mutation SNP C C G TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 2 209163498 209163498 C G SNP PIKFYVE ENST00000264380 human ensembl 69_37n +1 known missense c.1045 p.L349V 1.000 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 150 0 0.00 57 85 59.86 - - - PLS3 0 genome.wustl.edu 37 X 114844608 114844608 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 X 114844608 114844608 G A SNP PLS3 ENST00000355899 human ensembl 69_37n +1 known missense c.46 p.E16K 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS3 HGNC ENSG00000102024 144 0 0.00 96 52 35.14 - - - PMS2 0 genome.wustl.edu 37 7 6013049 6013049 + Missense_Mutation SNP C C G TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 7 6013049 6013049 C G SNP PMS2 ENST00000265849 human ensembl 69_37n -1 known missense c.2570 p.G857A 0.999 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 20 0 0.00 21 6 22.22 - - - PPP1R9A 0 genome.wustl.edu 37 7 94919430 94919430 + Nonsense_Mutation SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 7 94919430 94919430 C T SNP PPP1R9A ENST00000289495 human ensembl 69_37n +1 known nonsense c.3706 p.R1236* 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 76 0 0.00 55 29 34.52 - - - PRKAG3 0 genome.wustl.edu 37 2 219694753 219694753 + Missense_Mutation SNP T T G TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 2 219694753 219694753 T G SNP PRKAG3 ENST00000233944 human ensembl 69_37n -1 known missense c.581 p.Y194S 1.000 NULL pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core - no_errors PRKAG3 HGNC ENSG00000115592 25 0 0.00 24 6 20.00 - - - PRMT10 0 genome.wustl.edu 37 4 148559724 148559724 + Nonsense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 4 148559724 148559724 G A SNP PRMT10 ENST00000322396 human ensembl 69_37n -1 known nonsense c.2497 p.Q833* 1.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRMT10 HGNC ENSG00000164169 270 0 0.00 163 151 48.09 - - - PSMF1 0 genome.wustl.edu 37 20 1099509 1099509 + Silent SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 20 1099509 1099509 G A SNP PSMF1 ENST00000333082 human ensembl 69_37n +1 known silent c.93 p.V31 1.000 pfam_Inhibitor_PI31 pfam_Inhibitor_PI31,pfam_PI31_Prot_Reg - no_errors PSMF1 HGNC ENSG00000125818 60 0 0.00 73 43 37.07 - - - PTK2B 0 genome.wustl.edu 37 8 27288485 27288485 + Missense_Mutation SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 8 27288485 27288485 C T SNP PTK2B ENST00000519512 human ensembl 69_37n +1 putative missense c.82 p.R28C 0.007 superfamily_FERM_central,pfscan_FERM_domain superfamily_FERM_central,pfscan_FERM_domain - no_start_codon:pseudogene:no_stop_codon PTK2B HGNC ENSG00000120899 70 0 0.00 65 15 18.75 - - - PTPN13 0 genome.wustl.edu 37 4 87720273 87720273 + Nonsense_Mutation SNP G G T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 4 87720273 87720273 G T SNP PTPN13 ENST00000436978 human ensembl 69_37n +1 known nonsense c.6436 p.E2146* 0.050 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 41 0 0.00 24 9 27.27 - - - RAB20 0 genome.wustl.edu 37 13 111176031 111176031 + Missense_Mutation SNP C C G TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 13 111176031 111176031 C G SNP RAB20 ENST00000267328 human ensembl 69_37n -1 known missense c.686 p.R229T 0.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB20 HGNC ENSG00000139832 39 0 0.00 61 17 21.79 - - - RAP1GDS1 0 genome.wustl.edu 37 4 99325751 99325751 + Missense_Mutation SNP A A G TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 4 99325751 99325751 A G SNP RAP1GDS1 ENST00000339360 human ensembl 69_37n +1 known missense c.764 p.N255S 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors RAP1GDS1 HGNC ENSG00000138698 208 0 0.00 179 52 22.51 - - - RGS7 0 genome.wustl.edu 37 1 241094034 241094034 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 1 241094034 241094034 G A SNP RGS7 ENST00000407727 human ensembl 69_37n -1 known missense c.368 p.P123L 1.000 NULL pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS7 HGNC ENSG00000182901 419 1 0.24 304 322 51.44 - - - RPRD2 0 genome.wustl.edu 37 1 150444379 150444379 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 1 150444379 150444379 G A SNP RPRD2 ENST00000539519 human ensembl 69_37n +1 known missense c.2737 p.G913R 0.994 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD2 HGNC ENSG00000163125 352 0 0.00 894 153 14.54 - - - SAMD9L 0 genome.wustl.edu 37 7 92764927 92764927 + Missense_Mutation SNP C C G TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 7 92764927 92764927 C G SNP SAMD9L ENST00000318238 human ensembl 69_37n -1 known missense c.358 p.D120H 0.000 NULL superfamily_SAM/pointed,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 590 0 0.00 234 196 45.48 - - - SERINC1 0 genome.wustl.edu 37 6 122774991 122774993 + In_Frame_Del DEL AAG AAG - TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 6 122774991 122774993 AAG - DEL SERINC1 ENST00000339697 human ensembl 69_37n -1 known in_frame_del c.513_511 p.L171in_frame_del 1.000:1.000:1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC1 HGNC ENSG00000111897 134 0 0.00 90 26 21.49 - - - SLC24A3 0 genome.wustl.edu 37 20 19677522 19677522 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 20 19677522 19677522 G A SNP SLC24A3 ENST00000328041 human ensembl 69_37n +1 known missense c.1573 p.D525N 1.000 pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like - no_errors SLC24A3 HGNC ENSG00000185052 46 0 0.00 20 14 41.18 - - - SLC25A13 0 genome.wustl.edu 37 7 95820474 95820474 + Missense_Mutation SNP C C G TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 7 95820474 95820474 C G SNP SLC25A13 ENST00000416240 human ensembl 69_37n -1 known missense c.701 p.R234T 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A13 HGNC ENSG00000004864 302 2 0.66 188 142 43.03 - - - SMAD2 0 genome.wustl.edu 37 18 45368278 45368278 + Missense_Mutation SNP G G C TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 18 45368278 45368278 G C SNP SMAD2 ENST00000262160 human ensembl 69_37n -1 known missense c.1324 p.L442V 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD2 HGNC ENSG00000175387 67 0 0.00 47 48 50.53 - - - SMARCA5 0 genome.wustl.edu 37 4 144468591 144468591 + Nonsense_Mutation SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 4 144468591 144468591 C T SNP SMARCA5 ENST00000283131 human ensembl 69_37n +1 known nonsense c.2707 p.Q903* 1.000 pfam_SLIDE,superfamily_Homeodomain-like pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC ENSG00000153147 244 0 0.00 170 64 27.23 - - - SORBS1 0 genome.wustl.edu 37 10 97106171 97106171 + Silent SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 10 97106171 97106171 C T SNP SORBS1 ENST00000361941 human ensembl 69_37n -1 known silent c.2421 p.Q807 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 123 0 0.00 63 58 47.93 - - - SOX30 0 genome.wustl.edu 37 5 157078243 157078243 + Missense_Mutation SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 5 157078243 157078243 C T SNP SOX30 ENST00000265007 human ensembl 69_37n -1 known missense c.844 p.E282K 0.999 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX30 HGNC ENSG00000039600 67 0 0.00 20 16 44.44 - - - SPTA1 0 genome.wustl.edu 37 1 158615008 158615008 + Silent SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 1 158615008 158615008 C T SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known silent c.4164 p.K1388 0.993 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 251 0 0.00 349 121 25.74 - - - STRN3 0 genome.wustl.edu 37 14 31374670 31374672 + In_Frame_Del DEL TAA TAA - TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 TAA TAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 14 31374670 31374672 TAA - DEL STRN3 ENST00000357479 human ensembl 69_37n -1 known in_frame_del c.1983_1981 p.L661in_frame_del 1.000:1.000:0.999 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN3 HGNC ENSG00000196792 170 0 0.00 100 79 42.70 - - - TARBP1 0 genome.wustl.edu 37 1 234556558 234556558 + Missense_Mutation SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 1 234556558 234556558 C T SNP TARBP1 ENST00000040877 human ensembl 69_37n -1 known missense c.3445 p.D1149N 1.000 superfamily_ARM-type_fold pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 241 1 0.41 395 59 12.97 - - - TECTA 0 genome.wustl.edu 37 11 120989316 120989316 + Silent SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 11 120989316 120989316 G A SNP TECTA ENST00000264037 human ensembl 69_37n +1 known silent c.1092 p.E364 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_Zona_pellucida_Endoglin/CD105,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 - no_errors TECTA HGNC ENSG00000109927 53 0 0.00 42 10 19.23 - - - TSSK3 0 genome.wustl.edu 37 1 32829406 32829406 + Missense_Mutation SNP T T C TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 1 32829406 32829406 T C SNP TSSK3 ENST00000373534 human ensembl 69_37n +1 known missense c.356 p.V119A 0.976 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_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 TSSK3 HGNC ENSG00000162526 79 0 0.00 25 5 16.67 - - - TTC7A 0 genome.wustl.edu 37 2 47202165 47202165 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 2 47202165 47202165 G A SNP TTC7A ENST00000319190 human ensembl 69_37n +1 known missense c.571 p.E191K 0.996 NULL pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7A HGNC ENSG00000068724 79 0 0.00 82 28 25.23 - - - USO1 0 genome.wustl.edu 37 4 76695834 76695834 + Silent SNP C C G TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 4 76695834 76695834 C G SNP USO1 ENST00000538159 human ensembl 69_37n +1 known silent c.567 p.V189 0.991 superfamily_ARM-type_fold pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE - no_errors USO1 HGNC ENSG00000138768 90 0 0.00 72 18 20.00 - - - VWF 0 genome.wustl.edu 37 12 6091094 6091094 + Missense_Mutation SNP G G T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 12 6091094 6091094 G T SNP VWF ENST00000261405 human ensembl 69_37n -1 known missense c.7145 p.T2382N 0.003 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 56 0 0.00 47 27 36.49 - - - WISP1 0 genome.wustl.edu 37 8 134225361 134225361 + Silent SNP G G C TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 8 134225361 134225361 G C SNP WISP1 ENST00000250160 human ensembl 69_37n +1 known silent c.324 p.P108 1.000 smart_IGFBP-like,pirsf_IGFBP_CNN pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 70 0 0.00 44 31 41.33 - - - WNT7A 0 genome.wustl.edu 37 3 13860791 13860791 + Missense_Mutation SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 3 13860791 13860791 C T SNP WNT7A ENST00000285018 human ensembl 69_37n -1 known missense c.700 p.E234K 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7A HGNC ENSG00000154764 57 0 0.00 42 27 39.13 - - - WWP1 0 genome.wustl.edu 37 8 87460386 87460386 + Missense_Mutation SNP C C T TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 8 87460386 87460386 C T SNP WWP1 ENST00000265428 human ensembl 69_37n +1 known missense c.2008 p.H670Y 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors WWP1 HGNC ENSG00000123124 141 0 0.00 193 53 21.54 - - - ZNF180 0 genome.wustl.edu 37 19 44981989 44981989 + Nonsense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 19 44981989 44981989 G A SNP ZNF180 ENST00000221327 human ensembl 69_37n -1 known nonsense c.709 p.Q237* 0.196 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 ZNF180 HGNC ENSG00000167384 416 0 0.00 273 153 35.92 - - - ZNF44 0 genome.wustl.edu 37 19 12358544 12358544 + Nonsense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 19 12358544 12358544 G A SNP ZNF44 ENST00000426973 human ensembl 69_37n -1 known nonsense c.1171 p.Q391* 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF44 HGNC ENSG00000197857 43 0 0.00 32 18 36.00 - - - ZNF441 0 genome.wustl.edu 37 19 11892414 11892414 + Missense_Mutation SNP G G C TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 19 11892414 11892414 G C SNP ZNF441 ENST00000357901 human ensembl 69_37n +1 known missense c.1775 p.C592S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF441 HGNC ENSG00000197044 100 0 0.00 111 64 36.57 - - - ZNF540 0 genome.wustl.edu 37 19 38103583 38103583 + Missense_Mutation SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 19 38103583 38103583 G A SNP ZNF540 ENST00000316433 human ensembl 69_37n +1 known missense c.1402 p.E468K 0.003 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 ZNF540 HGNC ENSG00000171817 152 0 0.00 121 78 39.20 - - - ZNF548 0 genome.wustl.edu 37 19 57911242 57911242 + Missense_Mutation SNP G G C TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 19 57911242 57911242 G C SNP ZNF548 ENST00000336128 human ensembl 69_37n +1 known missense c.1623 p.E541D 0.173 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 ZNF548 HGNC ENSG00000188785 142 0 0.00 156 125 44.48 - - - ZNF671 0 genome.wustl.edu 37 19 58231990 58231990 + Silent SNP G G A TCGA-A8-A093-01A-11W-A019-09 TCGA-A8-A093-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8f64ba22-0958-4fdb-8161-f83cfe57c95d 4f97de65-e2ea-444d-b824-70905e5059c2 19 58231990 58231990 G A SNP ZNF671 ENST00000317398 human ensembl 69_37n -1 known silent c.1464 p.F488 0.010 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 ZNF671 HGNC ENSG00000083814 203 0 0.00 196 166 45.86 - - -