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 ARFGEF2 0 genome.wustl.edu 37 20 47569307 47569307 + Silent SNP G G A TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 20 47569307 47569307 G A SNP ARFGEF2 ENST00000371917 human ensembl 69_37n +1 known silent c.489 p.V163 0.997 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ENSG00000124198 158 0 0.00 239 366 60.50 - - - ARFGEF2 0 genome.wustl.edu 37 20 47569307 47569307 + Silent SNP G G A TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 20 47569307 47569307 G A SNP ARFGEF2 ENST00000371917 human ensembl 69_37n +1 known silent c.489 p.V163 0.997 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ENSG00000124198 153 0 0.00 239 366 60.50 - - - CROCCP2 0 genome.wustl.edu 37 1 16950261 16950261 + RNA SNP G G C TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 1 16950261 16950261 G C SNP CROCCP2 ENST00000421700 human ensembl 69_37n -1 known rna NULL NULL 0.687 - - - no_errors CROCCP2 HGNC ENSG00000215908 14 0 0.00 8 5 38.46 - - - CSMD1 0 genome.wustl.edu 37 8 3165943 3165943 + Missense_Mutation SNP A A T TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 8 3165943 3165943 A T SNP CSMD1 ENST00000335551 human ensembl 69_37n -1 novel missense c.2155 p.C719S 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CSMD1 HGNC ENSG00000183117 54 0 0.00 20 18 47.37 - - - CSMD1 0 genome.wustl.edu 37 8 3165943 3165943 + Missense_Mutation SNP A A T TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 8 3165943 3165943 A T SNP CSMD1 ENST00000335551 human ensembl 69_37n -1 novel missense c.2155 p.C719S 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CSMD1 HGNC ENSG00000183117 97 0 0.00 20 18 47.37 - - - DIDO1 0 genome.wustl.edu 37 20 61542268 61542268 + Missense_Mutation SNP C C T TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 20 61542268 61542268 C T SNP DIDO1 ENST00000266070 human ensembl 69_37n -1 known missense c.697 p.D233N 0.004 superfamily_Znf_FYVE_PHD pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 90 0 0.00 117 24 17.02 - - - DIDO1 0 genome.wustl.edu 37 20 61542482 61542482 + Silent SNP C C T TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 20 61542482 61542482 C T SNP DIDO1 ENST00000266070 human ensembl 69_37n -1 known silent c.483 p.L161 0.993 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 22 0 0.00 90 19 17.43 - - - DIDO1 0 genome.wustl.edu 37 20 61542482 61542482 + Silent SNP C C T TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 20 61542482 61542482 C T SNP DIDO1 ENST00000266070 human ensembl 69_37n -1 known silent c.483 p.L161 0.993 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 45 0 0.00 90 19 17.43 - - - ERC1 0 genome.wustl.edu 37 12 1553842 1553842 + Missense_Mutation SNP C C T TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 12 1553842 1553842 C T SNP ERC1 ENST00000360905 human ensembl 69_37n +1 known missense c.3139 p.P1047S 1.000 NULL pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 84 0 0.00 99 15 13.16 - - - ERC1 0 genome.wustl.edu 37 12 1553842 1553842 + Missense_Mutation SNP C C T TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 12 1553842 1553842 C T SNP ERC1 ENST00000360905 human ensembl 69_37n +1 known missense c.3139 p.P1047S 1.000 NULL pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 170 0 0.00 99 15 13.16 - - - IDUA 0 genome.wustl.edu 37 4 997898 997899 + Frame_Shift_Ins INS - - CT TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 4 997898 997899 - CT INS IDUA ENST00000453894 human ensembl 69_37n +1 known frame_shift_ins c.1892_1893 p.D632fs 1.000:1.000 superfamily_Fibronectin_type3 pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39 - no_errors IDUA HGNC ENSG00000127415 20 0 0.00 14 7 33.33 - - - IDUA 0 genome.wustl.edu 37 4 997898 997899 + Frame_Shift_Ins INS - - CT TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 4 997898 997899 - CT INS IDUA ENST00000453894 human ensembl 69_37n +1 known frame_shift_ins c.1892_1893 p.D632fs 1.000:1.000 superfamily_Fibronectin_type3 pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39 - no_errors IDUA HGNC ENSG00000127415 17 0 0.00 14 7 33.33 - - - IFIT1B 0 genome.wustl.edu 37 10 91143442 91143442 + Silent SNP T T C TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 10 91143442 91143442 T C SNP IFIT1B ENST00000371809 human ensembl 69_37n +1 known silent c.372 p.T124 0.000 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1B HGNC ENSG00000204010 356 0 0.00 103 55 34.81 - - - IFIT1B 0 genome.wustl.edu 37 10 91143442 91143442 + Silent SNP T T C TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 10 91143442 91143442 T C SNP IFIT1B ENST00000371809 human ensembl 69_37n +1 known silent c.372 p.T124 0.000 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1B HGNC ENSG00000204010 166 0 0.00 103 55 34.81 - - - KLHL1 0 genome.wustl.edu 37 13 70514225 70514225 + Missense_Mutation SNP C C T TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 13 70514225 70514225 C T SNP KLHL1 ENST00000377844 human ensembl 69_37n -1 known missense c.961 p.A321T 1.000 pfam_BACK,smart_BACK pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 66 0 0.00 54 23 29.87 - - - KLHL1 0 genome.wustl.edu 37 13 70514225 70514225 + Missense_Mutation SNP C C T TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 13 70514225 70514225 C T SNP KLHL1 ENST00000377844 human ensembl 69_37n -1 known missense c.961 p.A321T 1.000 pfam_BACK,smart_BACK pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 78 0 0.00 54 23 29.87 - - - LRRN3 0 genome.wustl.edu 37 7 110762901 110762901 + Nonsense_Mutation SNP A A T TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 7 110762901 110762901 A T SNP LRRN3 ENST00000308478 human ensembl 69_37n +1 known nonsense c.73 p.K25* 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRRN3 HGNC ENSG00000173114 283 0 0.00 237 77 24.52 - - - LRRN3 0 genome.wustl.edu 37 7 110762901 110762901 + Nonsense_Mutation SNP A A T TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 7 110762901 110762901 A T SNP LRRN3 ENST00000308478 human ensembl 69_37n +1 known nonsense c.73 p.K25* 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRRN3 HGNC ENSG00000173114 228 0 0.00 237 77 24.52 - - - MAPK8 0 genome.wustl.edu 37 10 49609776 49609776 + Nonsense_Mutation SNP C C T TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 10 49609776 49609776 C T SNP MAPK8 ENST00000360332 human ensembl 69_37n +1 known nonsense c.73 p.R25* 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK - no_errors MAPK8 HGNC ENSG00000107643 98 0 0.00 36 27 42.86 - - - MAPK8 0 genome.wustl.edu 37 10 49609776 49609776 + Nonsense_Mutation SNP C C T TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 10 49609776 49609776 C T SNP MAPK8 ENST00000360332 human ensembl 69_37n +1 known nonsense c.73 p.R25* 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK - no_errors MAPK8 HGNC ENSG00000107643 82 0 0.00 36 27 42.86 - - - MMD 0 genome.wustl.edu 37 17 53488766 53488766 + Missense_Mutation SNP G G A TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 17 53488766 53488766 G A SNP MMD ENST00000262065 human ensembl 69_37n -1 known missense c.121 p.P41S 1.000 pfam_HlyIII-related,tigrfam_HylIII pfam_HlyIII-related,tigrfam_HylIII - no_errors MMD HGNC ENSG00000108960 87 0 0.00 49 18 26.87 - - - MMD 0 genome.wustl.edu 37 17 53488766 53488766 + Missense_Mutation SNP G G A TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 17 53488766 53488766 G A SNP MMD ENST00000262065 human ensembl 69_37n -1 known missense c.121 p.P41S 1.000 pfam_HlyIII-related,tigrfam_HylIII pfam_HlyIII-related,tigrfam_HylIII - no_errors MMD HGNC ENSG00000108960 95 0 0.00 49 18 26.87 - - - MRPL21 0 genome.wustl.edu 37 11 68671254 68671255 + Frame_Shift_Ins INS - - A TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 11 68671254 68671255 - A INS MRPL21 ENST00000362034 human ensembl 69_37n -1 known frame_shift_ins c.25_24 p.T8fs 0.001:0.011 NULL pfam_Ribosomal_L21,tigrfam_Ribosomal_L21 - no_errors MRPL21 HGNC ENSG00000197345 13 0 0.00 15 11 42.31 - - - MUC20 0 genome.wustl.edu 37 3 195452645 195452645 + Missense_Mutation SNP G G A TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 3 195452645 195452645 G A SNP MUC20 ENST00000447234 human ensembl 69_37n +1 known missense c.1171 p.G391S 0.001 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 60 0 0.00 39 6 13.33 - - - NBPF12 0 genome.wustl.edu 37 1 146459635 146459635 + Missense_Mutation SNP A A G TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 1 146459635 146459635 A G SNP NBPF12 ENST00000442909 human ensembl 69_37n +1 novel missense c.8876 p.E2959G 0.003 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF12 HGNC ENSG00000186275 10 0 0.00 5 4 44.44 - - - PCDHB13 0 genome.wustl.edu 37 5 140595229 140595229 + Missense_Mutation SNP C C A TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 5 140595229 140595229 C A SNP PCDHB13 ENST00000341948 human ensembl 69_37n +1 known missense c.1534 p.H512N 0.000 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 PCDHB13 HGNC ENSG00000187372 197 0 0.00 243 66 21.36 - - - PCDHB13 0 genome.wustl.edu 37 5 140595229 140595229 + Missense_Mutation SNP C C A TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 5 140595229 140595229 C A SNP PCDHB13 ENST00000341948 human ensembl 69_37n +1 known missense c.1534 p.H512N 0.000 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 PCDHB13 HGNC ENSG00000187372 328 0 0.00 243 66 21.36 - - - PFAS 0 genome.wustl.edu 37 17 8158827 8158828 + Frame_Shift_Ins INS - - C TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 17 8158827 8158828 - C INS PFAS ENST00000314666 human ensembl 69_37n +1 known frame_shift_ins c.392_393 p.S134fs 0.177:0.018 tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C,pfam_AIR_synth,superfamily_PurM_N-like,superfamily_AIR_synth_C,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 24 0 0.00 23 3 11.54 - - - PFAS 0 genome.wustl.edu 37 17 8158827 8158828 + Frame_Shift_Ins INS - - C TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 17 8158827 8158828 - C INS PFAS ENST00000314666 human ensembl 69_37n +1 known frame_shift_ins c.392_393 p.S134fs 0.177:0.018 tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C,pfam_AIR_synth,superfamily_PurM_N-like,superfamily_AIR_synth_C,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 64 0 0.00 23 3 11.54 - - - PIK3CA 0 genome.wustl.edu 37 3 178921552 178921552 + Missense_Mutation SNP A A C TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 3 178921552 178921552 A C SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1034 p.N345T 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_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 118 0 0.00 60 36 37.50 - - - PIK3CA 0 genome.wustl.edu 37 3 178921552 178921552 + Missense_Mutation SNP A A C TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 3 178921552 178921552 A C SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1034 p.N345T 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_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 108 0 0.00 60 36 37.50 - - - PRR11 0 genome.wustl.edu 37 17 57262856 57262856 + Missense_Mutation SNP T T C TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 17 57262856 57262856 T C SNP PRR11 ENST00000262293 human ensembl 69_37n +1 known missense c.335 p.L112P 0.885 NULL NULL - no_errors PRR11 HGNC ENSG00000068489 128 0 0.00 183 30 14.08 - - - PRR11 0 genome.wustl.edu 37 17 57262856 57262856 + Missense_Mutation SNP T T C TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 17 57262856 57262856 T C SNP PRR11 ENST00000262293 human ensembl 69_37n +1 known missense c.335 p.L112P 0.885 NULL NULL - no_errors PRR11 HGNC ENSG00000068489 93 0 0.00 183 30 14.08 - - - RET 0 genome.wustl.edu 37 10 43601945 43601945 + Missense_Mutation SNP G G A TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 10 43601945 43601945 G A SNP RET ENST00000355710 human ensembl 69_37n +1 known missense c.989 p.R330Q 0.974 pirsf_Tyr_kinase_Ret_rcpt,superfamily_Cadherin-like pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 14 0 0.00 7 6 46.15 - - - RET 0 genome.wustl.edu 37 10 43601945 43601945 + Missense_Mutation SNP G G A TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 10 43601945 43601945 G A SNP RET ENST00000355710 human ensembl 69_37n +1 known missense c.989 p.R330Q 0.974 pirsf_Tyr_kinase_Ret_rcpt,superfamily_Cadherin-like pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 17 0 0.00 7 6 46.15 - - - RPL5 0 genome.wustl.edu 37 1 93300436 93300436 + Missense_Mutation SNP C C G TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 1 93300436 93300436 C G SNP RPL5 ENST00000370321 human ensembl 69_37n +1 known missense c.290 p.A97G 1.000 pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc - no_errors RPL5 HGNC ENSG00000122406 134 0 0.00 89 50 35.97 - - - RPL5 0 genome.wustl.edu 37 1 93300436 93300436 + Missense_Mutation SNP C C G TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 1 93300436 93300436 C G SNP RPL5 ENST00000370321 human ensembl 69_37n +1 known missense c.290 p.A97G 1.000 pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc - no_errors RPL5 HGNC ENSG00000122406 190 0 0.00 89 50 35.97 - - - SEPT10 0 genome.wustl.edu 37 2 110301779 110301779 + Missense_Mutation SNP A A C TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 2 110301779 110301779 A C SNP SEPT10 ENST00000356688 human ensembl 69_37n -1 putative missense c.1555 p.F519V 0.348 NULL pfam_Cell_div_GTP-bd - no_errors SEPT10 HGNC ENSG00000186522 21 0 0.00 19 8 29.63 - - - SLCO1B1 0 genome.wustl.edu 37 12 21329823 21329823 + Missense_Mutation SNP T T C TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 12 21329823 21329823 T C SNP SLCO1B1 ENST00000256958 human ensembl 69_37n +1 known missense c.473 p.V158A 0.002 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 197 0 0.00 112 72 39.13 - - - SLCO1B1 0 genome.wustl.edu 37 12 21329823 21329823 + Missense_Mutation SNP T T C TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 12 21329823 21329823 T C SNP SLCO1B1 ENST00000256958 human ensembl 69_37n +1 known missense c.473 p.V158A 0.002 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 238 0 0.00 112 72 39.13 - - - TBP 0 genome.wustl.edu 37 6 170871052 170871052 + Silent SNP G G A TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 6 170871052 170871052 G A SNP TBP ENST00000230354 human ensembl 69_37n +1 known silent c.228 p.Q76 0.994 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 19 0 0.00 40 19 32.20 - - - UBR5 0 genome.wustl.edu 37 8 103335715 103335715 + Missense_Mutation SNP C C A TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 8 103335715 103335715 C A SNP UBR5 ENST00000520539 human ensembl 69_37n -1 known missense c.1608 p.L536F 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 149 0 0.00 162 47 22.38 - - - UBR5 0 genome.wustl.edu 37 8 103335715 103335715 + Missense_Mutation SNP C C A TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 8 103335715 103335715 C A SNP UBR5 ENST00000520539 human ensembl 69_37n -1 known missense c.1608 p.L536F 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 160 0 0.00 162 47 22.38 - - - WDR13 0 genome.wustl.edu 37 X 48457777 48457777 + Frame_Shift_Del DEL G G - TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db X 48457777 48457777 G - DEL WDR13 ENST00000218056 human ensembl 69_37n +1 known frame_shift_del c.319 p.H108fs 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR13 HGNC ENSG00000101940 29 0 0.00 9 3 23.08 - - - WDR13 0 genome.wustl.edu 37 X 48457777 48457777 + Frame_Shift_Del DEL G G - TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 X 48457777 48457777 G - DEL WDR13 ENST00000218056 human ensembl 69_37n +1 known frame_shift_del c.319 p.H108fs 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR13 HGNC ENSG00000101940 36 0 0.00 9 3 23.08 - - - ZNF831 0 genome.wustl.edu 37 20 57766219 57766220 + Frame_Shift_Ins INS - - C TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 20 57766219 57766220 - C INS ZNF831 ENST00000371030 human ensembl 69_37n +1 novel frame_shift_ins c.145_146 p.T52fs 0.658:0.643 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 21 0 0.00 50 6 10.71 - - - ZPLD1 0 genome.wustl.edu 37 3 102196287 102196287 + Missense_Mutation SNP G G A TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 3 102196287 102196287 G A SNP ZPLD1 ENST00000306176 human ensembl 69_37n +1 known missense c.1121 p.G374D 1.000 NULL pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 - no_errors ZPLD1 HGNC ENSG00000170044 353 0 0.00 272 153 35.92 - - - ZPLD1 0 genome.wustl.edu 37 3 102196287 102196287 + Missense_Mutation SNP G G A TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 3 102196287 102196287 G A SNP ZPLD1 ENST00000306176 human ensembl 69_37n +1 known missense c.1121 p.G374D 1.000 NULL pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 - no_errors ZPLD1 HGNC ENSG00000170044 367 0 0.00 272 153 35.92 - - - ZRANB3 0 genome.wustl.edu 37 2 135966549 135966549 + Splice_Site SNP C C A TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f671adda-19b8-4329-85a0-e25c344a92db 2 135966549 135966549 C A SNP ZRANB3 ENST00000264159 human ensembl 69_37n -1 known splice_site c.2496-1 e17-1 1.000 - - - no_errors ZRANB3 HGNC ENSG00000121988 62 0 0.00 46 30 39.47 - - - ZRANB3 0 genome.wustl.edu 37 2 135966549 135966549 + Splice_Site SNP C C A TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c730a631-f3d0-4d7d-945a-b65c7a5a4d58 f539c3f0-3eb3-4279-8979-d81cb7db8e58 2 135966549 135966549 C A SNP ZRANB3 ENST00000264159 human ensembl 69_37n -1 known splice_site c.2496-1 e17-1 1.000 - - - no_errors ZRANB3 HGNC ENSG00000121988 84 0 0.00 46 30 39.47 - - -