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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCA1 0 genome.wustl.edu 37 9 107589237 107589237 + Missense_Mutation SNP T T C TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 9 107589237 107589237 T C SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.2329 p.I777V 0.996 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 tier1 - - 38 0 0.00 31 11 26.19 ACSM2A 0 genome.wustl.edu 37 16 20482480 20482480 + Missense_Mutation SNP C C A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 16 20482480 20482480 C A SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known missense c.682 p.P228T 0.980 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 tier1 - - 68 0 0.00 71 10 12.35 AGXT 0 genome.wustl.edu 37 2 241817508 241817508 + Missense_Mutation SNP T T G TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 2 241817508 241817508 T G SNP AGXT ENST00000307503 human ensembl 74_37 +1 known missense c.1012 p.Y338D 0.472 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT HGNC ENSG00000172482 tier1 - - 34 0 0.00 36 5 12.20 ANK3 0 genome.wustl.edu 37 10 61829081 61829082 + Frame_Shift_Ins INS - - T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 10 61829081 61829082 0 T INS ANK3 ENST00000280772 human ensembl 74_37 -1 known frame_shift_ins c.11558_11557 p.T3853fs 1.000:1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 205 0 0.00 145 13 8.23 ANKRD26 0 genome.wustl.edu 37 10 27333121 27333122 + Splice_Site INS - - A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 10 27333121 27333122 - A INS ANKRD26 ENST00000436985 human ensembl 74_37 -1 known splice_site_ins c.2034-3_2034-2 e19-2 0.796:0.514 - - - no_errors ANKRD26 HGNC ENSG00000107890 tier1 52 0 0.00 31 4 11.43 ARNTL 0 genome.wustl.edu 37 11 13398107 13398107 + Silent SNP C C T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 11 13398107 13398107 C T SNP ARNTL ENST00000389708 human ensembl 74_37 +1 known silent c.1341 p.T447 0.987 NULL pfam_PAS_fold,pfam_PAS_fold_3,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors ARNTL HGNC ENSG00000133794 tier1 - - 45 0 0.00 35 20 36.36 ATM 0 genome.wustl.edu 37 11 108117793 108117793 + Missense_Mutation SNP G G A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 11 108117793 108117793 G A SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.1004 p.G335E 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 tier1 - - 62 0 0.00 49 5 9.26 BCAT1 0 genome.wustl.edu 37 12 25047302 25047302 + Nonsense_Mutation SNP C C T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 12 25047302 25047302 C T SNP BCAT1 ENST00000261192 human ensembl 74_37 -1 known nonsense c.186 p.W62* 1.000 superfamily_Aminotrans_IV,pirsf_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT1 HGNC ENSG00000060982 tier1 - - 35 0 0.00 23 9 28.12 BCL9L 0 genome.wustl.edu 37 11 118772770 118772770 + Frame_Shift_Del DEL G G - TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 11 118772770 118772770 G - DEL BCL9L ENST00000334801 human ensembl 74_37 -1 known frame_shift_del c.1682 p.P561fs 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 tier1 26 0 0.00 21 2 8.70 BRINP3 0 genome.wustl.edu 37 1 190067964 190067964 + Silent SNP G G A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 1 190067964 190067964 G A SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known silent c.1485 p.L495 0.083 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 tier1 - - 139 0 0.00 124 7 5.34 C2CD3 0 genome.wustl.edu 37 11 73829389 73829389 + Missense_Mutation SNP C C G TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 11 73829389 73829389 C G SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.1404 p.E468D 0.992 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 tier1 - - 87 0 0.00 64 95 59.75 C5orf20 0 genome.wustl.edu 37 5 134782138 134782138 + Missense_Mutation SNP G G A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 5 134782138 134782138 G A SNP C5orf20 ENST00000503143 human ensembl 74_37 -1 known missense c.661 p.R221W 0.000 NULL NULL - no_errors C5orf20 HGNC ENSG00000251380 tier1 - - 79 0 0.00 68 24 26.09 C8orf34 0 genome.wustl.edu 37 8 69380971 69380971 + Missense_Mutation SNP C C A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 8 69380971 69380971 C A SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known missense c.652 p.P218T 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 tier1 - - 64 0 0.00 43 21 32.81 CDH18 0 genome.wustl.edu 37 5 19520820 19520820 + Silent SNP G G T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 5 19520820 19520820 G T SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known silent c.1458 p.P486 0.018 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 113 0 0.00 75 4 5.06 CTAGE9 0 genome.wustl.edu 37 6 132029870 132029870 + Missense_Mutation SNP G G A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 6 132029870 132029870 G A SNP CTAGE9 ENST00000314099 human ensembl 74_37 -1 known missense c.2288 p.P763L 0.000 NULL NULL - no_errors CTAGE9 HGNC ENSG00000236761 tier1 - - 38 0 0.00 34 14 29.17 DGKH 0 genome.wustl.edu 37 13 42769087 42769087 + Missense_Mutation SNP C C A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 13 42769087 42769087 C A SNP DGKH ENST00000337343 human ensembl 74_37 +1 known missense c.2102 p.P701H 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC ENSG00000102780 tier1 - - 79 0 0.00 84 12 12.50 DMD 0 genome.wustl.edu 37 X 31986468 31986468 + Missense_Mutation SNP T T A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 X 31986468 31986468 T A SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.6602 p.D2201V 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 75 0 0.00 35 38 52.05 DNAH12 0 genome.wustl.edu 37 3 57509313 57509313 + Frame_Shift_Del DEL T T - TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 3 57509313 57509313 T - DEL DNAH12 ENST00000351747 human ensembl 74_37 -1 known frame_shift_del c.276 p.G93fs 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 tier1 63 0 0.00 28 3 9.68 DNAH3 0 genome.wustl.edu 37 16 20975002 20975002 + Missense_Mutation SNP C C T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 16 20975002 20975002 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.10204 p.A3402T 0.988 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 39 0 0.00 35 17 32.69 DOPEY2 0 genome.wustl.edu 37 21 37642374 37642374 + Missense_Mutation SNP A A G TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 21 37642374 37642374 A G SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.5551 p.S1851G 1.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 tier1 - - 153 0 0.00 53 42 44.21 EID2 0 genome.wustl.edu 37 19 40030421 40030423 + In_Frame_Del DEL GCC GCC - TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 19 40030421 40030423 GCC - DEL EID2 ENST00000390658 human ensembl 74_37 -1 known in_frame_del c.299_297 p.A100in_frame_del 0.185:0.142:0.664 NULL NULL - no_errors EID2 HGNC ENSG00000176396 tier1 22 0 0.00 28 2 6.67 EIF3B 0 genome.wustl.edu 37 7 2406001 2406001 + Missense_Mutation SNP G G A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 7 2406001 2406001 G A SNP EIF3B ENST00000360876 human ensembl 74_37 +1 known missense c.1207 p.A403T 1.000 pirsf_EIF3B pfam_TIF_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_EIF3B,pfscan_RRM_dom - no_errors EIF3B HGNC ENSG00000106263 tier1 - - 91 0 0.00 69 17 19.77 FAM114A2 0 genome.wustl.edu 37 5 153406811 153406811 + Silent SNP C C A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 5 153406811 153406811 C A SNP FAM114A2 ENST00000351797 human ensembl 74_37 -1 known silent c.714 p.G238 0.902 pfam_DUF719 pfam_DUF719 - no_errors FAM114A2 HGNC ENSG00000055147 tier1 - - 86 0 0.00 77 10 11.49 FAM86A 0 genome.wustl.edu 37 16 5140265 5140265 + Missense_Mutation SNP C C T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 16 5140265 5140265 C T SNP FAM86A ENST00000427587 human ensembl 74_37 -1 known missense c.562 p.D188N 1.000 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors FAM86A HGNC ENSG00000118894 tier1 - - 70 0 0.00 66 6 8.33 FILIP1L 0 genome.wustl.edu 37 3 99568200 99568200 + Missense_Mutation SNP A A T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 3 99568200 99568200 A T SNP FILIP1L ENST00000354552 human ensembl 74_37 -1 known missense c.2320 p.Y774N 1.000 superfamily_Prefoldin pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 tier1 - - 152 0 0.00 129 11 7.80 FYTTD1 0 genome.wustl.edu 37 3 197505271 197505271 + Missense_Mutation SNP G G T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 3 197505271 197505271 G T SNP FYTTD1 ENST00000241502 human ensembl 74_37 +1 known missense c.794 p.S265I 0.961 pfam_DUF1346 pfam_DUF1346 - no_errors FYTTD1 HGNC ENSG00000122068 tier1 - - 64 0 0.00 58 18 23.68 GABRG1 0 genome.wustl.edu 37 4 46060357 46060358 + Frame_Shift_Ins INS - - A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 4 46060357 46060358 - A INS GABRG1 ENST00000295452 human ensembl 74_37 -1 known frame_shift_ins c.793_792 p.D264fs 1.000:1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 tier1 83 0 0.00 50 15 23.08 GFRA4 0 genome.wustl.edu 37 20 3644008 3644010 + In_Frame_Del DEL CAG CAG - TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 20 3644008 3644010 CAG - DEL GFRA4 ENST00000319242 human ensembl 74_37 -1 known in_frame_del c.39_37 p.L15in_frame_del 0.177:0.215:0.210 NULL pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt - no_errors GFRA4 HGNC ENSG00000125861 tier1 8 0 0.00 4 2 33.33 GLI3 0 genome.wustl.edu 37 7 42012081 42012081 + Missense_Mutation SNP G G T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 7 42012081 42012081 G T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.1958 p.P653Q 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 tier1 - - 75 0 0.00 83 5 5.68 GRIK5 0 genome.wustl.edu 37 19 42558042 42558042 + Missense_Mutation SNP T T C TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 19 42558042 42558042 T C SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.1096 p.S366G 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 51 0 0.00 47 5 9.62 GRM1 0 genome.wustl.edu 37 6 146350923 146350923 + Silent SNP C C T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 6 146350923 146350923 C T SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known silent c.270 p.N90 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 tier1 - - 20 0 0.00 15 14 48.28 GRM8 0 genome.wustl.edu 37 7 126746638 126746638 + Silent SNP C C A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 7 126746638 126746638 C A SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known silent c.639 p.L213 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 tier1 - - 47 0 0.00 25 12 32.43 HCN2 0 genome.wustl.edu 37 19 615920 615920 + Nonsense_Mutation SNP G G T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 19 615920 615920 G T SNP HCN2 ENST00000251287 human ensembl 74_37 +1 known nonsense c.2116 p.E706* 1.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC ENSG00000099822 tier1 - - 39 0 0.00 23 22 48.89 HECW1 0 genome.wustl.edu 37 7 43594343 43594343 + Missense_Mutation SNP C C T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 7 43594343 43594343 C T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.4663 p.R1555W 0.984 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 tier1 - - 43 0 0.00 24 8 24.24 HERC2 0 genome.wustl.edu 37 15 28459227 28459227 + Missense_Mutation SNP C C T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 15 28459227 28459227 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.6550 p.E2184K 0.958 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 59 0 0.00 58 6 9.38 HGF 0 genome.wustl.edu 37 7 81381528 81381528 + Missense_Mutation SNP C C T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 7 81381528 81381528 C T SNP HGF ENST00000222390 human ensembl 74_37 -1 known missense c.533 p.R178Q 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 tier1 - - 115 0 0.00 94 7 6.93 HOXB7 0 genome.wustl.edu 37 17 46688089 46688090 + Frame_Shift_Ins INS - - C TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 17 46688089 46688090 - C INS HOXB7 ENST00000239165 human ensembl 74_37 -1 known frame_shift_ins c.192_191 p.M65fs 1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB7 HGNC ENSG00000260027 tier1 14 0 0.00 15 2 11.76 HTT 0 genome.wustl.edu 37 4 3149763 3149763 + Nonsense_Mutation SNP G G A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 4 3149763 3149763 G A SNP HTT ENST00000355072 human ensembl 74_37 +1 known nonsense c.3327 p.W1109* 0.997 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 tier1 - - 62 0 0.00 40 8 16.67 IMPG1 0 genome.wustl.edu 37 6 76640786 76640786 + Silent SNP C C T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 6 76640786 76640786 C T SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known silent c.2127 p.E709 0.340 pfscan_EG-like_dom pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 tier1 - - 47 0 0.00 35 7 16.67 ITGAV 0 genome.wustl.edu 37 2 187506261 187506261 + Missense_Mutation SNP C C T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 2 187506261 187506261 C T SNP ITGAV ENST00000261023 human ensembl 74_37 +1 known missense c.1105 p.R369W 0.577 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 tier1 - - 247 0 0.00 109 79 42.02 JAKMIP2 0 genome.wustl.edu 37 5 146997615 146997615 + Frame_Shift_Del DEL A A - TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 5 146997615 146997615 A - DEL JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known frame_shift_del c.2205 p.F735fs 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 tier1 100 0 0.00 59 18 23.38 KCTD5 0 genome.wustl.edu 37 16 2757384 2757384 + Missense_Mutation SNP A A T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 16 2757384 2757384 A T SNP KCTD5 ENST00000564195 human ensembl 74_37 +1 putative missense c.669 p.E223D 0.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD5 HGNC ENSG00000167977 tier1 - - 50 0 0.00 37 20 35.09 KL 0 genome.wustl.edu 37 13 33635386 33635386 + Missense_Mutation SNP G G A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 13 33635386 33635386 G A SNP KL ENST00000380099 human ensembl 74_37 +1 known missense c.2170 p.G724R 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 tier1 - - 64 0 0.00 56 27 32.53 KLHDC7A 0 genome.wustl.edu 37 1 18808683 18808683 + Missense_Mutation SNP G G A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 1 18808683 18808683 G A SNP KLHDC7A ENST00000400664 human ensembl 74_37 +1 known missense c.1208 p.R403Q 0.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 tier1 - - 35 0 0.00 20 10 33.33 KMT2C 0 genome.wustl.edu 37 7 151859348 151859348 + Missense_Mutation SNP A A T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 7 151859348 151859348 A T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.11314 p.S3772T 0.048 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 58 0 0.00 38 17 30.91 LATS1 0 genome.wustl.edu 37 6 149983275 149983275 + Missense_Mutation SNP G G C TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 6 149983275 149983275 G C SNP LATS1 ENST00000253339 human ensembl 74_37 -1 known missense c.2983 p.R995G 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS1 HGNC ENSG00000131023 tier1 - - 132 0 0.00 139 14 9.15 LIG3 0 genome.wustl.edu 37 17 33331427 33331427 + Missense_Mutation SNP G G A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 17 33331427 33331427 G A SNP LIG3 ENST00000378526 human ensembl 74_37 +1 known missense c.2932 p.V978M 1.000 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 tier1 - - 85 0 0.00 51 24 31.58 LIPH 0 genome.wustl.edu 37 3 185237081 185237081 + Missense_Mutation SNP T T A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 3 185237081 185237081 T A SNP LIPH ENST00000296252 human ensembl 74_37 -1 known missense c.735 p.K245N 0.976 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC ENSG00000163898 tier1 - - 54 0 0.00 67 25 27.17 LRRTM4 0 genome.wustl.edu 37 2 77746703 77746703 + Missense_Mutation SNP T T G TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 2 77746703 77746703 T G SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.295 p.S99R 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 tier1 - - 72 0 0.00 65 10 13.33 MAP7D3 0 genome.wustl.edu 37 X 135313186 135313186 + RNA DEL T T - TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 X 135313186 135313186 T - DEL MAP7D3 ENST00000477124 human ensembl 74_37 -1 putative rna NULL NULL 0.018 - - - no_errors MAP7D3 HGNC ENSG00000129680 tier1 10 0 0.00 16 4 20.00 MCOLN2 0 genome.wustl.edu 37 1 85403687 85403687 + Missense_Mutation SNP G G C TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 1 85403687 85403687 G C SNP MCOLN2 ENST00000370608 human ensembl 74_37 -1 known missense c.1189 p.L397V 1.000 pfam_PKD1_2_channel pfam_PKD1_2_channel - no_errors MCOLN2 HGNC ENSG00000153898 tier1 - - 84 0 0.00 28 29 50.88 MED14 0 genome.wustl.edu 37 X 40588606 40588606 + RNA DEL A A - TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 X 40588606 40588606 A - DEL MED14 ENST00000463072 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MED14 HGNC ENSG00000180182 tier1 12 0 0.00 9 3 25.00 MEN1 0 genome.wustl.edu 37 11 64575481 64575481 + Missense_Mutation SNP T T C TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 11 64575481 64575481 T C SNP MEN1 ENST00000337652 human ensembl 74_37 -1 known missense c.551 p.E184G 1.000 pfam_Menin pfam_Menin - no_errors MEN1 HGNC ENSG00000133895 tier1 - - 28 0 0.00 7 11 61.11 METAP1 0 genome.wustl.edu 37 4 99962233 99962233 + Frame_Shift_Del DEL A A - TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 4 99962233 99962233 A - DEL METAP1 ENST00000296411 human ensembl 74_37 +1 known frame_shift_del c.472 p.K158fs 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1 - no_errors METAP1 HGNC ENSG00000164024 tier1 24 0 0.00 7 2 22.22 MIR3648 0 genome.wustl.edu 37 21 9825966 9825966 + RNA SNP A A C TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 21 9825966 9825966 A C SNP MIR3648 ENST00000581792 human ensembl 74_37 +1 known rna NULL NULL 0.050 - - - no_errors MIR3648 HGNC ENSG00000264462 tier1 rs1796672 - 11 0 0.00 14 9 39.13 MYH2 0 genome.wustl.edu 37 17 10426816 10426816 + Silent SNP G G C TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 17 10426816 10426816 G C SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known silent c.5469 p.A1823 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 81 0 0.00 46 34 42.50 NBPF1 0 genome.wustl.edu 37 1 16915551 16915551 + Missense_Mutation SNP T T C TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 1 16915551 16915551 T C SNP NBPF1 ENST00000430580 human ensembl 74_37 -1 novel missense c.286 p.K96E 0.051 NULL pfam_NBPF_dom - no_errors NBPF1 HGNC ENSG00000219481 tier1 rs202151903 - 53 0 0.00 52 5 8.77 OR1L8 0 genome.wustl.edu 37 9 125330525 125330525 + Missense_Mutation SNP C C T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 9 125330525 125330525 C T SNP OR1L8 ENST00000304865 human ensembl 74_37 -1 known missense c.232 p.V78I 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L8 HGNC ENSG00000171496 tier1 - - 65 0 0.00 38 27 41.54 PCDHGA5 0 genome.wustl.edu 37 5 140744090 140744090 + Missense_Mutation SNP C C T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 5 140744090 140744090 C T SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known missense c.193 p.R65C 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 tier1 - - 118 0 0.00 100 11 9.91 PCDHGB2 0 genome.wustl.edu 37 5 140740407 140740407 + Silent SNP C C T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 5 140740407 140740407 C T SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known silent c.705 p.A235 0.997 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 tier1 - - 64 0 0.00 30 14 31.82 PCSK2 0 genome.wustl.edu 37 20 17434530 17434530 + Silent SNP C C T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 20 17434530 17434530 C T SNP PCSK2 ENST00000262545 human ensembl 74_37 +1 known silent c.1029 p.Y343 0.743 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC ENSG00000125851 tier1 - - 62 0 0.00 50 7 12.28 PDE4D 0 genome.wustl.edu 37 5 59064251 59064251 + Missense_Mutation SNP G G A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 5 59064251 59064251 G A SNP PDE4D ENST00000507116 human ensembl 74_37 -1 known missense c.85 p.L29F 1.000 NULL pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 tier1 - - 145 0 0.00 146 17 10.43 PDIA6 0 genome.wustl.edu 37 2 10928837 10928837 + Silent SNP T T C TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 2 10928837 10928837 T C SNP PDIA6 ENST00000381611 human ensembl 74_37 -1 known silent c.999 p.K333 1.000 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors PDIA6 HGNC ENSG00000143870 tier1 - - 250 0 0.00 101 138 57.74 PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1624 p.E542K 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_dom,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 tier1 rs121913273 - 52 0 0.00 26 18 40.91 PKM 0 genome.wustl.edu 37 15 72499498 72499498 + Silent SNP T T C TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 15 72499498 72499498 T C SNP PKM ENST00000319622 human ensembl 74_37 -1 known silent c.957 p.R319 0.963 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKM HGNC ENSG00000067225 tier1 - - 29 0 0.00 26 11 29.73 PPARGC1A 0 genome.wustl.edu 37 4 23833224 23833224 + Missense_Mutation SNP G G A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 4 23833224 23833224 G A SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known missense c.385 p.P129S 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 tier1 - - 206 0 0.00 152 75 33.04 PSEN1 0 genome.wustl.edu 37 14 73685873 73685873 + Frame_Shift_Del DEL T T - TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 14 73685873 73685873 T 0 DEL PSEN1 ENST00000324501 human ensembl 74_37 +1 known frame_shift_del c.1280 p.F428fs 1.000 pfam_Peptidase_A22A,smart_Preselin/SPP pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Pept_A22A_PS1,prints_Peptidase_A22A - no_errors PSEN1 HGNC ENSG00000080815 179 0 0.00 174 16 8.42 PTPRB 0 genome.wustl.edu 37 12 70933610 70933610 + Missense_Mutation SNP G G A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 12 70933610 70933610 G A SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known missense c.5693 p.S1898F 0.999 NULL pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 tier1 - - 75 0 0.00 224 14 5.88 RAB37 0 genome.wustl.edu 37 17 72739444 72739444 + Missense_Mutation SNP G G T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 17 72739444 72739444 G T SNP RAB37 ENST00000392614 human ensembl 74_37 +1 known missense c.346 p.D116Y 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB37 HGNC ENSG00000172794 tier1 - - 144 0 0.00 75 46 38.02 RAB40C 0 genome.wustl.edu 37 16 677579 677580 + Frame_Shift_Ins INS - - C TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 16 677579 677580 - C INS RAB40C ENST00000248139 human ensembl 74_37 +1 known frame_shift_ins c.803_804 p.Q271fs 1.000:1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40C HGNC ENSG00000197562 tier1 40 0 0.00 50 6 10.71 RHOJ 0 genome.wustl.edu 37 14 63735878 63735878 + Missense_Mutation SNP G G A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 14 63735878 63735878 G A SNP RHOJ ENST00000316754 human ensembl 74_37 +1 known missense c.229 p.A77T 0.975 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOJ HGNC ENSG00000126785 tier1 - - 83 0 0.00 66 8 10.81 RNF38 0 genome.wustl.edu 37 9 36351127 36351127 + Frame_Shift_Del DEL T T - TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 9 36351127 36351127 T - DEL RNF38 ENST00000259605 human ensembl 74_37 -1 known frame_shift_del c.1248 p.V417fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF38 HGNC ENSG00000137075 tier1 23 0 0.00 14 4 22.22 RYR1 0 genome.wustl.edu 37 19 38924493 38924493 + Silent SNP C C T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 19 38924493 38924493 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.24 p.D8 0.997 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 170 0 0.00 128 45 26.01 SCAPER 0 genome.wustl.edu 37 15 76995309 76995309 + Missense_Mutation SNP A A T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 15 76995309 76995309 A T SNP SCAPER ENST00000324767 human ensembl 74_37 -1 known missense c.2282 p.I761N 1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 tier1 - - 98 0 0.00 61 31 33.70 SCUBE2 0 genome.wustl.edu 37 11 9047354 9047354 + Missense_Mutation SNP G G A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 11 9047354 9047354 G A SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known missense c.2749 p.R917C 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 tier1 - - 95 0 0.00 110 6 5.17 SEC14L5 0 genome.wustl.edu 37 16 5046919 5046919 + Missense_Mutation SNP C C T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 16 5046919 5046919 C T SNP SEC14L5 ENST00000251170 human ensembl 74_37 +1 known missense c.844 p.R282W 1.000 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom,prints_CRAL-bd_toc_tran pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 tier1 rs199609540 - 23 0 0.00 25 12 32.43 SEMA4G 0 genome.wustl.edu 37 10 102739999 102739999 + Missense_Mutation SNP C C T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 10 102739999 102739999 C T SNP SEMA4G ENST00000210633 human ensembl 74_37 +1 known missense c.1249 p.R417W 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4G HGNC ENSG00000095539 tier1 - - 39 0 0.00 24 15 38.46 SRRM2 0 genome.wustl.edu 37 16 2814349 2814349 + Missense_Mutation SNP G G T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 16 2814349 2814349 G T SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.3820 p.V1274L 0.287 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 290 0 0.00 233 90 27.86 TCEB3B 0 genome.wustl.edu 37 18 44561142 44561142 + Missense_Mutation SNP G G A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 18 44561142 44561142 G A SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.494 p.S165F 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 tier1 - - 118 0 0.00 44 31 41.33 TCHH 0 genome.wustl.edu 37 1 152082623 152082624 + Frame_Shift_Ins INS - - T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 1 152082623 152082624 - T INS TCHH ENST00000368804 human ensembl 74_37 -1 known frame_shift_ins c.3070_3069 p.D1023fs 0.013:0.008 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 90 0 0.00 78 15 16.13 TGFBR3 0 genome.wustl.edu 37 1 92200485 92200485 + Nonsense_Mutation SNP G G T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 1 92200485 92200485 G T SNP TGFBR3 ENST00000212355 human ensembl 74_37 -1 known nonsense c.416 p.S139* 0.724 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC ENSG00000069702 tier1 - - 131 0 0.00 76 53 40.77 THBS4 0 genome.wustl.edu 37 5 79355604 79355604 + Missense_Mutation SNP G G A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 5 79355604 79355604 G A SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known missense c.863 p.R288H 0.556 NULL pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 tier1 - - 125 0 0.00 130 42 24.42 TOLLIP 0 genome.wustl.edu 37 11 1298388 1298388 + Missense_Mutation SNP C C T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 11 1298388 1298388 C T SNP TOLLIP ENST00000317204 human ensembl 74_37 -1 known missense c.706 p.A236T 0.999 pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE pfam_CUE,pfam_C2_dom,superfamily_C2_dom,superfamily_UBA-like,smart_C2_dom,smart_CUE,pfscan_CUE - no_errors TOLLIP HGNC ENSG00000078902 tier1 - - 95 0 0.00 68 32 32.00 TTN 0 genome.wustl.edu 37 2 179463986 179463986 + Missense_Mutation SNP G G A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 2 179463986 179463986 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.48830 p.T16277M 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 135 0 0.00 93 26 21.85 WDR49 0 genome.wustl.edu 37 3 167319988 167319988 + Missense_Mutation SNP C C T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 3 167319988 167319988 C T SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known missense c.179 p.G60D 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 tier1 - - 57 0 0.00 68 14 17.07 ZBBX 0 genome.wustl.edu 37 3 167000196 167000196 + Missense_Mutation SNP G G T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 3 167000196 167000196 G T SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known missense c.2084 p.P695H 0.000 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 134 0 0.00 107 7 6.14 ZFYVE16 0 genome.wustl.edu 37 5 79741163 79741163 + Missense_Mutation SNP T T C TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 5 79741163 79741163 T C SNP ZFYVE16 ENST00000338008 human ensembl 74_37 +1 known missense c.2663 p.L888S 1.000 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 tier1 - - 62 0 0.00 35 21 37.50 ZNF280A 0 genome.wustl.edu 37 22 22868668 22868668 + Silent SNP G G C TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 22 22868668 22868668 G C SNP ZNF280A ENST00000302097 human ensembl 74_37 -1 known silent c.1287 p.L429 0.985 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280A HGNC ENSG00000169548 tier1 - - 98 0 0.00 95 34 26.36 ZNF32 0 genome.wustl.edu 37 10 44140161 44140161 + Missense_Mutation SNP C C A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 10 44140161 44140161 C A SNP ZNF32 ENST00000374433 human ensembl 74_37 -1 known missense c.159 p.E53D 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF32 HGNC ENSG00000169740 tier1 - - 207 0 0.00 136 11 7.48 ZNF473 0 genome.wustl.edu 37 19 50547993 50547993 + Missense_Mutation SNP T T A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 19 50547993 50547993 T A SNP ZNF473 ENST00000270617 human ensembl 74_37 +1 known missense c.293 p.I98N 0.286 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 ZNF473 HGNC ENSG00000142528 tier1 - - 116 0 0.00 88 46 34.33 ZNF681 0 genome.wustl.edu 37 19 23926495 23926495 + Missense_Mutation SNP T T G TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 19 23926495 23926495 T G SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known missense c.1857 p.K619N 0.004 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 ZNF681 HGNC ENSG00000196172 tier1 - - 21 0 0.00 20 4 16.67 ZNF804B 0 genome.wustl.edu 37 7 88963527 88963528 + Frame_Shift_Ins INS - - A TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 7 88963527 88963528 - A INS ZNF804B ENST00000333190 human ensembl 74_37 +1 known frame_shift_ins c.1231_1232 p.S413fs 0.008:0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 41 0 0.00 27 7 20.59 ZNF835 0 genome.wustl.edu 37 19 57176122 57176122 + Missense_Mutation SNP G G T TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 19 57176122 57176122 G T SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.445 p.Q149K 0.228 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 tier1 - - 45 0 0.00 48 22 30.99 ZNF880 0 genome.wustl.edu 37 19 52888050 52888050 + Missense_Mutation SNP A A G TCGA-VQ-AA6K-01A-11D-A410-08 TCGA-VQ-AA6K-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 63f86b3f-9266-4646-8346-b790adb091e5 e3221302-9b60-4c56-a2f9-5fb830973264 19 52888050 52888050 A G SNP ZNF880 ENST00000422689 human ensembl 74_37 +1 known missense c.1217 p.Q406R 1.000 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 ZNF880 HGNC ENSG00000221923 tier1 rs76053634 - 39 0 0.00 45 8 15.09