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 ADAM9 0 genome.wustl.edu 37 8 38871610 38871611 + Frame_Shift_Ins INS - - C TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 8 38871610 38871611 - C INS ADAM9 ENST00000481513 human ensembl 69_37n +1 putative frame_shift_ins c.381_382 p.I127fs 0.000:0.000 NULL pfam_Peptidase_M12B_N - no_errors ADAM9 HGNC ENSG00000168615 119 0 0.00 90 11 10.89 - - - ALK 0 genome.wustl.edu 37 2 29416321 29416321 + Silent SNP G G A TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 2 29416321 29416321 G A SNP ALK ENST00000389048 human ensembl 69_37n -1 known silent c.4632 p.N1544 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 159 0 0.00 121 27 18.12 - - - ATRX 0 genome.wustl.edu 37 X 76939543 76939543 + Missense_Mutation SNP A A T TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 X 76939543 76939543 A T SNP ATRX ENST00000373344 human ensembl 69_37n -1 known missense c.1205 p.I402N 0.997 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 152 0 0.00 182 55 23.21 - - - CYP4F2 0 genome.wustl.edu 37 19 16003164 16003164 + Silent SNP C C A TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 19 16003164 16003164 C A SNP CYP4F2 ENST00000221700 human ensembl 69_37n -1 known silent c.480 p.L160 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 256 0 0.00 696 303 30.24 - - - DOC2A 0 genome.wustl.edu 37 16 30020844 30020844 + Silent SNP G G A TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 16 30020844 30020844 G A SNP DOC2A ENST00000350119 human ensembl 69_37n -1 known silent c.297 p.Y99 0.987 superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Doc2 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pirsf_Doc2,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors DOC2A HGNC ENSG00000149927 92 0 0.00 108 14 11.48 - - - GGT1 0 genome.wustl.edu 37 22 25019807 25019807 + Missense_Mutation SNP G G A TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 22 25019807 25019807 G A SNP GGT1 ENST00000248923 human ensembl 69_37n +1 known missense c.944 p.R315H 1.000 pfam_GGT_peptidase,tigrfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 258 0 0.00 195 45 18.75 - - - GUSBP1 0 genome.wustl.edu 37 5 21459801 21459801 + RNA SNP G G T TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 5 21459801 21459801 G T SNP GUSBP1 ENST00000508260 human ensembl 69_37n +1 known rna NULL NULL 0.029 - - - no_errors RP11-823P9.1 Clone_based_vega_gene ENSG00000183666 38 0 0.00 40 13 24.53 - - - HEATR7B2 0 genome.wustl.edu 37 5 41005744 41005744 + Silent SNP G G A TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 5 41005744 41005744 G A SNP HEATR7B2 ENST00000399564 human ensembl 69_37n -1 known silent c.3753 p.S1251 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 154 0 0.00 165 48 22.33 - - - HEATR7B2 0 genome.wustl.edu 37 5 41015496 41015496 + Missense_Mutation SNP G G A TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 5 41015496 41015496 G A SNP HEATR7B2 ENST00000399564 human ensembl 69_37n -1 known missense c.2969 p.S990F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 212 0 0.00 131 28 17.61 - - - HIST1H1C 0 genome.wustl.edu 37 6 26056019 26056021 + In_Frame_Del DEL TTC TTC - TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 6 26056019 26056021 TTC - DEL HIST1H1C ENST00000343677 human ensembl 69_37n -1 known in_frame_del c.638_636 p.K213in_frame_del 1.000:1.000:1.000 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1C HGNC ENSG00000187837 58 0 0.00 42 14 25.00 - - - HSPG2 0 genome.wustl.edu 37 1 22211641 22211642 + Frame_Shift_Ins INS - - G TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 1 22211641 22211642 - G INS HSPG2 ENST00000374695 human ensembl 69_37n -1 known frame_shift_ins c.1220_1219 p.Q407fs 1.000:0.999 pfam_Ig_I-set,superfamily_LDrepeatLR_classA_rpt,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 16 0 0.00 14 2 12.50 - - - IFFO1 0 genome.wustl.edu 37 12 6657973 6657974 + Frame_Shift_Ins INS - - C TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 12 6657973 6657974 - C INS IFFO1 ENST00000356896 human ensembl 69_37n -1 known frame_shift_ins c.1099_1098 p.R366fs 1.000:1.000 NULL NULL - no_errors IFFO1 HGNC ENSG00000010295 29 0 0.00 20 3 13.04 - - - KIT 0 genome.wustl.edu 37 4 55569972 55569972 + Missense_Mutation SNP C C T TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 4 55569972 55569972 C T SNP KIT ENST00000288135 human ensembl 69_37n +1 known missense c.839 p.A280V 0.800 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors KIT HGNC ENSG00000157404 169 0 0.00 91 57 38.51 - - - MIR486 0 genome.wustl.edu 37 8 41518006 41518006 + RNA SNP G G A TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 8 41518006 41518006 G A SNP MIR486 ENST00000408108 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors MIR486 HGNC ENSG00000221035 34 0 0.00 10 8 44.44 - - - MKL1 0 genome.wustl.edu 37 22 40825739 40825739 + Nonsense_Mutation SNP G G A TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 22 40825739 40825739 G A SNP MKL1 ENST00000355630 human ensembl 69_37n -1 known nonsense c.172 p.Q58* 1.000 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL1 HGNC ENSG00000196588 82 0 0.00 73 43 37.07 - - - MOV10L1 0 genome.wustl.edu 37 22 50555645 50555645 + Missense_Mutation SNP G G A TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 22 50555645 50555645 G A SNP MOV10L1 ENST00000262794 human ensembl 69_37n +1 known missense c.1319 p.R440Q 0.997 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC ENSG00000073146 79 0 0.00 62 14 18.42 - - - MYH4 0 genome.wustl.edu 37 17 10355578 10355578 + Missense_Mutation SNP G G A TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 17 10355578 10355578 G A SNP MYH4 ENST00000255381 human ensembl 69_37n -1 known missense c.3418 p.R1140C 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 111 0 0.00 39 104 72.73 - - - NCOR2 0 genome.wustl.edu 37 12 124841250 124841251 + Frame_Shift_Ins INS - - G TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 12 124841250 124841251 - G INS NCOR2 ENST00000356219 human ensembl 69_37n -1 known frame_shift_ins c.3200_3199 p.R1067fs 0.404:0.395 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 18 0 0.00 15 2 11.76 - - - NDUFA1 0 genome.wustl.edu 37 X 119005896 119005896 + Missense_Mutation SNP G G A TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 X 119005896 119005896 G A SNP NDUFA1 ENST00000371437 human ensembl 69_37n +1 known missense c.22 p.G8R 0.789 pirsf_NADH_Ub_cplx-1_asu_su-1 pirsf_NADH_Ub_cplx-1_asu_su-1 - no_errors NDUFA1 HGNC ENSG00000125356 82 0 0.00 107 38 26.21 - - - NPTXR 0 genome.wustl.edu 37 22 39219199 39219199 + Silent SNP C C T TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 22 39219199 39219199 C T SNP NPTXR ENST00000333039 human ensembl 69_37n -1 known silent c.1167 p.R389 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin - no_errors NPTXR HGNC ENSG00000221890 107 0 0.00 51 44 46.32 - - - OLFML3 0 genome.wustl.edu 37 1 114523968 114523968 + Silent SNP C C T TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 1 114523968 114523968 C T SNP OLFML3 ENST00000320334 human ensembl 69_37n +1 known silent c.798 p.Y266 0.257 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML3 HGNC ENSG00000116774 100 0 0.00 64 22 25.58 - - - OR5R1 0 genome.wustl.edu 37 11 56184810 56184810 + Missense_Mutation SNP G G A TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 11 56184810 56184810 G A SNP OR5R1 ENST00000312253 human ensembl 69_37n -1 known missense c.899 p.A300V 0.079 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5R1 HGNC ENSG00000174942 186 0 0.00 127 36 22.09 - - - PIK3CB 0 genome.wustl.edu 37 3 138403480 138403480 + Missense_Mutation SNP G G A TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 3 138403480 138403480 G A SNP PIK3CB ENST00000289153 human ensembl 69_37n -1 known missense c.2302 p.L768F 1.000 superfamily_Kinase-like_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,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 PIK3CB HGNC ENSG00000051382 104 0 0.00 56 43 43.43 - - - PRKRIR 0 genome.wustl.edu 37 11 76062947 76062947 + Missense_Mutation SNP C C T TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 11 76062947 76062947 C T SNP PRKRIR ENST00000260045 human ensembl 69_37n -1 known missense c.1247 p.G416D 0.989 superfamily_RNaseH-like_dom pfam_Znf_C2CH,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors PRKRIR HGNC ENSG00000137492 73 0 0.00 20 36 64.29 - - - PSMD14 0 genome.wustl.edu 37 2 162175351 162175351 + Silent SNP T T G TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 2 162175351 162175351 T G SNP PSMD14 ENST00000409682 human ensembl 69_37n +1 known silent c.15 p.L5 1.000 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors PSMD14 HGNC ENSG00000115233 497 0 0.00 244 65 21.04 - - - REG3G 0 genome.wustl.edu 37 2 79255029 79255029 + Missense_Mutation SNP G G T TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 2 79255029 79255029 G T SNP REG3G ENST00000272324 human ensembl 69_37n +1 known missense c.430 p.G144C 0.003 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Pancreatis_ac - no_errors REG3G HGNC ENSG00000143954 132 0 0.00 124 30 19.48 - - - SEMA5B 0 genome.wustl.edu 37 3 122629793 122629793 + Missense_Mutation SNP C C T TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 3 122629793 122629793 C T SNP SEMA5B ENST00000451055 human ensembl 69_37n -1 known missense c.3353 p.R1118H 1.000 NULL pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 105 0 0.00 59 17 22.37 - - - SH3GL2 0 genome.wustl.edu 37 9 17787384 17787384 + Missense_Mutation SNP C C T TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 9 17787384 17787384 C T SNP SH3GL2 ENST00000380607 human ensembl 69_37n +1 known missense c.338 p.A113V 1.000 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,pfam_BAR_dom-cont,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3GL2 HGNC ENSG00000107295 136 0 0.00 110 35 24.14 - - - STARD9 0 genome.wustl.edu 37 15 42984870 42984870 + Silent SNP C C T TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 15 42984870 42984870 C T SNP STARD9 ENST00000290607 human ensembl 69_37n +1 known silent c.11094 p.L3698 0.999 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 81 0 0.00 27 14 34.15 - - - TECPR1 0 genome.wustl.edu 37 7 97847315 97847315 + Frame_Shift_Del DEL G G - TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 7 97847315 97847315 G - DEL TECPR1 ENST00000379795 human ensembl 69_37n -1 known frame_shift_del c.3203 p.P1068fs 1.000 pfam_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 23 0 0.00 11 2 15.38 - - - TRABD2A 0 genome.wustl.edu 37 2 85097825 85097825 + Nonsense_Mutation SNP G G A TCGA-AN-A04A-01A-21W-A050-09 TCGA-AN-A04A-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7e8f250c-6162-4049-8559-5bfdf054b021 2761c6e7-affc-4ffe-a72a-1d1203d574c4 2 85097825 85097825 G A SNP TRABD2A ENST00000409520 human ensembl 69_37n -1 known nonsense c.193 p.R65* 0.978 NULL NULL - no_errors TRABD2A HGNC ENSG00000186854 36 0 0.00 35 13 27.08 - - -