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 ABCC2 0 genome.wustl.edu 37 10 101554170 101554170 + Missense_Mutation SNP A A T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 10 101554170 101554170 A T SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.577 p.N193Y 1.000 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 tier1 - - 38 0 0.00 60 4 6.25 ABI2 0 genome.wustl.edu 37 2 204240780 204240780 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 2 204240780 204240780 G A SNP ABI2 ENST00000431886 human ensembl 74_37 +1 known missense c.319 p.A107T 0.040 pfscan_T_SNARE_dom pfscan_T_SNARE_dom - no_errors ABI2 HGNC ENSG00000138443 tier1 - - 45 0 0.00 37 4 9.76 ACVR1 0 genome.wustl.edu 37 2 158617468 158617468 + Silent SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 2 158617468 158617468 G A SNP ACVR1 ENST00000263640 human ensembl 74_37 -1 known silent c.1188 p.F396 0.920 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors ACVR1 HGNC ENSG00000115170 tier1 - - 47 0 0.00 40 9 18.37 ACVR2B 0 genome.wustl.edu 37 3 38519461 38519461 + Missense_Mutation SNP G G C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 3 38519461 38519461 G C SNP ACVR2B ENST00000352511 human ensembl 74_37 +1 known missense c.370 p.V124L 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2B HGNC ENSG00000114739 tier1 - - 36 0 0.00 16 5 23.81 ADH1C 0 genome.wustl.edu 37 4 100273840 100273840 + RNA DEL C C - TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 4 100273840 100273840 C - DEL ADH1C ENST00000505942 human ensembl 74_37 -1 known rna NULL NULL 0.196 - - - no_errors ADH1C HGNC ENSG00000248144 tier1 77 0 0.00 50 8 13.79 ADORA1 0 genome.wustl.edu 37 1 203134554 203134554 + Silent SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 203134554 203134554 C T SNP ADORA1 ENST00000309502 human ensembl 74_37 +1 known silent c.507 p.C169 0.946 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt - no_errors ADORA1 HGNC ENSG00000163485 tier1 - - 55 0 0.00 37 29 43.94 AFF1 0 genome.wustl.edu 37 4 88011154 88011154 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 4 88011154 88011154 C T SNP AFF1 ENST00000395146 human ensembl 74_37 +1 known missense c.1123 p.P375S 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 49 0 0.00 52 3 5.45 AIM1L 0 genome.wustl.edu 37 1 26670703 26670703 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 26670703 26670703 C T SNP AIM1L ENST00000374207 human ensembl 74_37 -1 known missense c.481 p.G161R 0.000 NULL superfamily_PDZ - no_errors AIM1L HGNC ENSG00000176092 tier1 - - 61 0 0.00 47 17 26.56 ANKS1B 0 genome.wustl.edu 37 12 99139573 99139573 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 12 99139573 99139573 G A SNP ANKS1B ENST00000549493 human ensembl 74_37 -1 known missense c.1477 p.P493S 1.000 NULL pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_SAM/pointed,smart_SAM,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SAM - no_errors ANKS1B HGNC ENSG00000185046 tier1 - - 24 0 0.00 31 5 13.89 AOX1 0 genome.wustl.edu 37 2 201473840 201473840 + Silent SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 2 201473840 201473840 C T SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known silent c.1041 p.S347 0.001 pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 tier1 - - 35 0 0.00 22 13 37.14 APEH 0 genome.wustl.edu 37 3 49713608 49713608 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 3 49713608 49713608 G A SNP APEH ENST00000296456 human ensembl 74_37 +1 known missense c.562 p.D188N 0.863 NULL pfam_Peptidase_S9,pfam_AB_hydrolase_1,pfam_Dienelactn_hydro - no_errors APEH HGNC ENSG00000164062 tier1 - - 42 0 0.00 10 12 54.55 APOBEC3G 0 genome.wustl.edu 37 22 39482536 39482536 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 22 39482536 39482536 G A SNP APOBEC3G ENST00000407997 human ensembl 74_37 +1 known missense c.988 p.E330K 0.000 pfam_APOBEC_C,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC ENSG00000239713 55 0 0.00 42 3 6.67 ARID4B 0 genome.wustl.edu 37 1 235335957 235335957 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 235335957 235335957 G A SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known missense c.3787 p.R1263C 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 41 0 0.00 42 3 6.67 ARPC2 0 genome.wustl.edu 37 2 219081926 219081926 + RNA SNP A A G TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 2 219081926 219081926 A G SNP ARPC2 ENST00000478612 human ensembl 74_37 +1 known rna NULL NULL 0.976 - - - no_errors ARPC2 HGNC ENSG00000163466 tier1 - - 8 0 0.00 12 4 25.00 ASIC5 0 genome.wustl.edu 37 4 156784805 156784805 + Frame_Shift_Del DEL G G - TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 4 156784805 156784805 G - DEL ASIC5 ENST00000537611 human ensembl 74_37 -1 known frame_shift_del c.142 p.H48fs 1.000 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC5 HGNC ENSG00000256394 tier1 66 0 0.00 40 18 31.03 ASMT 0 genome.wustl.edu 37 X 1743260 1743260 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 X 1743260 1743260 C T SNP ASMT ENST00000381241 human ensembl 74_37 +1 known missense c.343 p.R115W 0.980 pfam_O_MeTrfase_2,pirsf_COMT pfam_O_MeTrfase_2,pirsf_COMT - no_errors ASMT HGNC ENSG00000196433 tier1 - - 81 0 0.00 46 22 32.35 ASTN1 0 genome.wustl.edu 37 1 176852059 176852059 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 176852059 176852059 G A SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.3322 p.P1108S 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 56 0 0.00 55 4 6.78 BAZ1B 0 genome.wustl.edu 37 7 72873971 72873971 + Silent SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 7 72873971 72873971 G A SNP BAZ1B ENST00000339594 human ensembl 74_37 -1 known silent c.3327 p.L1109 0.406 superfamily_ARM-type_fold pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 tier1 - - 43 0 0.00 55 4 6.78 BICC1 0 genome.wustl.edu 37 10 60273032 60273032 + Silent SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 10 60273032 60273032 C T SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known silent c.129 p.S43 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 tier1 - - 53 0 0.00 48 4 7.69 BNIPL 0 genome.wustl.edu 37 1 151016187 151016187 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 151016187 151016187 C T SNP BNIPL ENST00000368931 human ensembl 74_37 +1 known missense c.835 p.R279C 0.949 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors BNIPL HGNC ENSG00000163141 tier1 rs150118714 - 32 0 0.00 28 9 24.32 BPIFC 0 genome.wustl.edu 37 22 32810404 32810404 + Silent SNP A A G TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 22 32810404 32810404 A G SNP BPIFC ENST00000300399 human ensembl 74_37 -1 known silent c.1410 p.L470 0.997 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFC HGNC ENSG00000184459 tier1 - - 62 0 0.00 71 4 5.33 BRI3 0 genome.wustl.edu 37 7 97920515 97920515 + Missense_Mutation SNP G G C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 7 97920515 97920515 G C SNP BRI3 ENST00000297290 human ensembl 74_37 +1 known missense c.338 p.R113T 1.000 pfam_Brain_I3 pfam_Brain_I3 - no_errors BRI3 HGNC ENSG00000164713 tier1 - - 44 0 0.00 31 28 47.46 BRINP3 0 genome.wustl.edu 37 1 190067356 190067356 + Nonsense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 190067356 190067356 G T SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known nonsense c.2093 p.S698* 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 tier1 - - 38 0 0.00 30 7 18.92 BTN3A1 0 genome.wustl.edu 37 6 26406256 26406256 + Missense_Mutation SNP A A C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 6 26406256 26406256 A C SNP BTN3A1 ENST00000289361 human ensembl 74_37 +1 known missense c.205 p.S69R 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN3A1 HGNC ENSG00000026950 42 0 0.00 14 16 53.33 BTN3A2 0 genome.wustl.edu 37 6 26368912 26368912 + Missense_Mutation SNP A A C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 6 26368912 26368912 A C SNP BTN3A2 ENST00000356386 human ensembl 74_37 +1 known missense c.205 p.S69R 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors BTN3A2 HGNC ENSG00000186470 tier1 - - 142 0 0.00 108 19 14.96 C12orf4 0 genome.wustl.edu 37 12 4600369 4600369 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 12 4600369 4600369 G A SNP C12orf4 ENST00000261250 human ensembl 74_37 -1 known missense c.1472 p.A491V 1.000 pfam_DUF2362 pfam_DUF2362 - no_errors C12orf4 HGNC ENSG00000047621 tier1 - - 58 0 0.00 55 12 17.91 C2CD3 0 genome.wustl.edu 37 11 73881821 73881821 + Missense_Mutation SNP C C A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 11 73881821 73881821 C A SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.17 p.G6V 0.553 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 tier1 - - 52 0 0.00 54 15 21.74 C9orf24 0 genome.wustl.edu 37 9 34379061 34379061 + RNA SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 9 34379061 34379061 G A SNP C9orf24 ENST00000481295 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C9orf24 HGNC ENSG00000164972 tier1 - - 42 0 0.00 27 4 12.90 CACNA1E 0 genome.wustl.edu 37 1 181680102 181680103 + Frame_Shift_Del DEL AG AG - TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 181680102 181680103 AG - DEL CACNA1E ENST00000367573 human ensembl 74_37 +1 known frame_shift_del c.1068_1069 p.R360fs 1.000:1.000 prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 46 0 0.00 44 3 6.38 CAND2 0 genome.wustl.edu 37 3 12858877 12858877 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 3 12858877 12858877 C T SNP CAND2 ENST00000456430 human ensembl 74_37 +1 known missense c.2446 p.P816S 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 tier1 - - 63 0 0.00 36 17 32.08 CCR9 0 genome.wustl.edu 37 3 45943064 45943064 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 3 45943064 45943064 G A SNP CCR9 ENST00000357632 human ensembl 74_37 +1 known missense c.784 p.V262I 1.000 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_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCRL1,prints_Chemokine_CXCR4 - no_errors CCR9 HGNC ENSG00000173585 tier1 rs202070482 - 46 0 0.00 28 11 28.21 CD207 0 genome.wustl.edu 37 2 71058196 71058196 + Silent SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 2 71058196 71058196 G T SNP CD207 ENST00000410009 human ensembl 74_37 -1 known silent c.972 p.V324 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD207 HGNC ENSG00000116031 tier1 - - 71 0 0.00 69 5 6.76 CD320 0 genome.wustl.edu 37 19 8367714 8367714 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 19 8367714 8367714 G T SNP CD320 ENST00000301458 human ensembl 74_37 -1 known missense c.653 p.S218Y 0.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors CD320 HGNC ENSG00000167775 tier1 - - 63 0 0.00 27 4 12.90 CD47 0 genome.wustl.edu 37 3 107762288 107762289 + RNA INS - - A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 3 107762288 107762289 - A INS CD47 ENST00000471694 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.021 - - - no_errors CD47 HGNC ENSG00000196776 tier1 43 0 0.00 20 4 16.67 CDH18 0 genome.wustl.edu 37 5 19591263 19591263 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 5 19591263 19591263 G T SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.902 p.A301D 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 41 0 0.00 28 2 6.67 CDK10 0 genome.wustl.edu 37 16 89762095 89762095 + Missense_Mutation SNP C C A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 16 89762095 89762095 C A SNP CDK10 ENST00000353379 human ensembl 74_37 +1 known missense c.1078 p.P360T 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK10 HGNC ENSG00000185324 tier1 - - 97 0 0.00 65 46 41.44 CDKN2A 0 genome.wustl.edu 37 9 21974744 21974744 + Missense_Mutation SNP A A G TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 9 21974744 21974744 A G SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known missense c.83 p.V28A 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 23 0 0.00 9 7 43.75 CEP290 0 genome.wustl.edu 37 12 88487680 88487681 + Frame_Shift_Ins INS - - T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 12 88487680 88487681 - T INS CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_ins c.3182_3181 p.I1061fs 1.000:1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 tier1 60 0 0.00 37 2 5.13 CLEC18B 0 genome.wustl.edu 37 16 74455135 74455136 + Frame_Shift_Ins INS - - C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 16 74455135 74455136 - C INS CLEC18B ENST00000339953 human ensembl 74_37 -1 known frame_shift_ins c.34_33 p.H11fs 0.004:0.003 NULL pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1 - no_errors CLEC18B HGNC ENSG00000140839 tier1 166 0 0.00 92 35 27.56 CLN3 0 genome.wustl.edu 37 16 28488869 28488869 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 16 28488869 28488869 G A SNP CLN3 ENST00000359984 human ensembl 74_37 -1 known missense c.1285 p.P429S 1.000 pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3 pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3 - no_errors CLN3 HGNC ENSG00000188603 23 0 0.00 25 3 10.71 CLSTN2 0 genome.wustl.edu 37 3 140284997 140284999 + In_Frame_Del DEL GAG GAG - TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 3 140284997 140284999 GAG - DEL CLSTN2 ENST00000458420 human ensembl 74_37 +1 known in_frame_del c.2770_2772 p.E927in_frame_del 0.989:0.994:0.995 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 tier1 52 0 0.00 31 2 6.06 COL4A5 0 genome.wustl.edu 37 X 107924125 107924125 + Silent SNP A A G TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 X 107924125 107924125 A G SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known silent c.4026 p.G1342 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 tier1 - - 32 0 0.00 38 4 9.30 COX7A2 0 genome.wustl.edu 37 6 75953544 75953544 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 6 75953544 75953544 C T SNP COX7A2 ENST00000370081 human ensembl 74_37 -1 known missense c.3 p.M1I 0.079 NULL pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a - no_errors COX7A2 HGNC ENSG00000112695 tier1 - - 61 0 0.00 71 4 5.33 CSF1R 0 genome.wustl.edu 37 5 149459879 149459879 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 5 149459879 149459879 C T SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known missense c.328 p.V110M 0.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 tier1 - - 17 0 0.00 21 5 19.23 CSF3 0 genome.wustl.edu 37 17 38173192 38173193 + Frame_Shift_Del DEL CG CG - TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 CG CG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 17 38173192 38173193 CG - DEL CSF3 ENST00000225474 human ensembl 74_37 +1 known frame_shift_del c.604_605 p.R202fs 0.998:0.993 pfam_IL-6/IL-23/GCSF/MGF,superfamily_4_helix_cytokine-like_core,smart_IL-6/IL-23/GCSF/MGF,pirsf_IL-6/IL-23/GCSF/MGF,prints_IL-6/IL-23/GCSF/MGF pfam_IL-6/IL-23/GCSF/MGF,superfamily_4_helix_cytokine-like_core,smart_IL-6/IL-23/GCSF/MGF,pirsf_IL-6/IL-23/GCSF/MGF,prints_IL-6/IL-23/GCSF/MGF - no_errors CSF3 HGNC ENSG00000108342 tier1 49 0 0.00 403 84 17.25 CSMD2 0 genome.wustl.edu 37 1 34080136 34080136 + Missense_Mutation SNP C C A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 34080136 34080136 C A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.6101 p.C2034F 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 64 0 0.00 25 26 50.98 CSMD3 0 genome.wustl.edu 37 8 113256779 113256779 + Missense_Mutation SNP T T G TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 8 113256779 113256779 T G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.10246 p.T3416P 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 59 0 0.00 52 9 14.75 CWC22 0 genome.wustl.edu 37 2 180851528 180851528 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 2 180851528 180851528 C T SNP CWC22 ENST00000295749 human ensembl 74_37 -1 known missense c.100 p.E34K 0.160 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors CWC22 HGNC ENSG00000163510 tier1 - - 40 0 0.00 52 4 7.14 CYB5D1 0 genome.wustl.edu 37 17 7762921 7762921 + Silent SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 17 7762921 7762921 G T SNP CYB5D1 ENST00000332439 human ensembl 74_37 +1 known silent c.678 p.T226 0.544 NULL pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors CYB5D1 HGNC ENSG00000182224 tier1 - - 40 0 0.00 18 3 14.29 DAK 0 genome.wustl.edu 37 11 61105513 61105513 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 11 61105513 61105513 G A SNP DAK ENST00000394900 human ensembl 74_37 +1 known missense c.104 p.R35H 1.000 pfam_Dak1,tigrfam_DhaK_ATP pfam_Dak1,pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP - no_errors DAK HGNC ENSG00000149476 18 0 0.00 17 3 15.00 DDX60 0 genome.wustl.edu 37 4 169229302 169229302 + Frame_Shift_Del DEL A A - TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 4 169229302 169229302 A - DEL DDX60 ENST00000393743 human ensembl 74_37 -1 known frame_shift_del c.119 p.L40fs 0.999 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 tier1 60 0 0.00 39 4 9.30 DNM1P47 0 genome.wustl.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 15 102304772 102304772 T C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.984 - - - no_errors DNM1P47 HGNC ENSG00000259660 48 0 0.00 42 4 8.70 DOCK4 0 genome.wustl.edu 37 7 111381677 111381677 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 7 111381677 111381677 G T SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.4838 p.P1613H 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 tier1 - - 27 0 0.00 35 4 10.26 DST 0 genome.wustl.edu 37 6 56420335 56420335 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 6 56420335 56420335 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.14851 p.A4951T 1.000 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 36 0 0.00 45 4 8.16 DUOX2 0 genome.wustl.edu 37 15 45391892 45391892 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 15 45391892 45391892 C T SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.3383 p.R1128H 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 tier1 - - 41 0 0.00 38 4 9.52 DUSP10 0 genome.wustl.edu 37 1 221875156 221875157 + RNA INS - - A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 221875156 221875157 - A INS DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.000 - - - no_errors DUSP10 HGNC ENSG00000143507 tier1 21 0 0.00 20 2 9.09 DUSP12 0 genome.wustl.edu 37 1 161719712 161719712 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 161719712 161719712 G A SNP DUSP12 ENST00000367943 human ensembl 74_37 +1 known missense c.121 p.A41T 0.988 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Znf_C2H2,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP12 HGNC ENSG00000081721 tier1 - - 61 0 0.00 73 5 6.41 EFR3B 0 genome.wustl.edu 37 2 25358396 25358396 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 2 25358396 25358396 C T SNP EFR3B ENST00000403714 human ensembl 74_37 +1 known missense c.1372 p.R458C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3B HGNC ENSG00000084710 36 0 0.00 31 2 6.06 EHMT1 0 genome.wustl.edu 37 9 140710455 140710455 + Silent SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 9 140710455 140710455 C T SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known silent c.3315 p.C1105 1.000 pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pfscan_Pre-SET_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 51 0 0.00 77 5 6.02 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65028 65028 + Silent SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 GL000212.1 65028 65028 G A SNP ENSG00000212857 ENST00000391545 human ensembl 74_37 +1 known silent c.777 p.T259 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 tier1 - - 73 0 0.00 30 22 41.51 ENSG00000232274 0 genome.wustl.edu 37 1 143189125 143189125 + RNA SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 143189125 143189125 G A SNP ENSG00000232274 ENST00000447389 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 rs201126579 - 14 0 0.00 14 6 30.00 ENSG00000255532 0 genome.wustl.edu 37 11 49401015 49401015 + RNA SNP T T A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 11 49401015 49401015 T A SNP ENSG00000255532 ENST00000529081 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2026G22.1 Clone_based_vega_gene ENSG00000255532 tier1 - - 73 0 0.00 73 4 5.19 ENSG00000259647 0 genome.wustl.edu 37 15 30297722 30297722 + RNA SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 15 30297722 30297722 G A SNP ENSG00000259647 ENST00000561392 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-143J24.1 Clone_based_vega_gene ENSG00000259647 tier1 - - 34 0 0.00 12 4 25.00 EPS8L3 0 genome.wustl.edu 37 1 110294817 110294817 + Splice_Site SNP T T G TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 110294817 110294817 T G SNP EPS8L3 ENST00000369805 human ensembl 74_37 -1 known splice_site c.1239-2 e14-2 0.000 - - - no_errors EPS8L3 HGNC ENSG00000198758 tier1 - - 68 0 0.00 45 5 10.00 EXOC6 0 genome.wustl.edu 37 10 94714402 94714402 + Silent SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 10 94714402 94714402 C T SNP EXOC6 ENST00000371547 human ensembl 74_37 +1 known silent c.1590 p.D530 0.997 pfam_Sec15,pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6 HGNC ENSG00000138190 tier1 rs146699258 - 77 0 0.00 54 10 15.62 EXOSC2 0 genome.wustl.edu 37 9 133574844 133574844 + RNA SNP C C G TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 9 133574844 133574844 C G SNP EXOSC2 ENST00000463488 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EXOSC2 HGNC ENSG00000130713 tier1 - - 31 0 0.00 10 28 73.68 FAM124A 0 genome.wustl.edu 37 13 51854620 51854620 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 13 51854620 51854620 G A SNP FAM124A ENST00000280057 human ensembl 74_37 +1 known missense c.977 p.G326D 0.000 NULL NULL - no_errors FAM124A HGNC ENSG00000150510 tier1 - - 39 0 0.00 71 22 23.66 FAT3 0 genome.wustl.edu 37 11 92568181 92568181 + Silent SNP C C A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 11 92568181 92568181 C A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.10017 p.P3339 0.007 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 50 0 0.00 31 13 29.55 FBXL16 0 genome.wustl.edu 37 16 747263 747265 + In_Frame_Del DEL TGG TGG - TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 TGG TGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 16 747263 747265 TGG - DEL FBXL16 ENST00000324361 human ensembl 74_37 -1 known in_frame_del c.143_141 p.CQ47in_frame_delW 1.000:1.000:1.000 NULL superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL16 HGNC ENSG00000127585 tier1 8 0 0.00 2 3 60.00 FCRL4 0 genome.wustl.edu 37 1 157545291 157545291 + RNA SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 157545291 157545291 C T SNP FCRL4 ENST00000448509 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors FCRL4 HGNC ENSG00000163518 tier1 - - 29 0 0.00 16 7 30.43 FOXI3 0 genome.wustl.edu 37 2 88751690 88751690 + RNA SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 2 88751690 88751690 G A SNP FOXI3 ENST00000398142 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FOXI3 HGNC ENSG00000214336 18 0 0.00 35 5 12.50 FPR1 0 genome.wustl.edu 37 19 52249969 52249969 + Silent SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 19 52249969 52249969 G A SNP FPR1 ENST00000304748 human ensembl 74_37 -1 known silent c.279 p.F93 0.889 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR1 HGNC ENSG00000171051 tier1 - - 75 0 0.00 38 31 44.93 FRMD5 0 genome.wustl.edu 37 15 44184264 44184264 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 15 44184264 44184264 C T SNP FRMD5 ENST00000417257 human ensembl 74_37 -1 known missense c.643 p.V215M 1.000 pfscan_FERM_domain pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FRMD5 HGNC ENSG00000171877 tier1 - - 16 0 0.00 4 5 55.56 FUT1 0 genome.wustl.edu 37 19 49254520 49254520 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 19 49254520 49254520 G A SNP FUT1 ENST00000310160 human ensembl 74_37 -1 known missense c.19 p.R7C 0.003 NULL pfam_Glyco_trans_11 - no_errors FUT1 HGNC ENSG00000174951 28 0 0.00 24 2 7.69 GABRB3 0 genome.wustl.edu 37 15 26866507 26866507 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 15 26866507 26866507 G A SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known missense c.415 p.R139C 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 tier1 - - 32 0 0.00 34 11 24.44 GAREM 0 genome.wustl.edu 37 18 29867784 29867784 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 18 29867784 29867784 G T SNP GAREM ENST00000269209 human ensembl 74_37 -1 known missense c.776 p.P259Q 0.997 NULL superfamily_SAM/pointed - no_errors GAREM HGNC ENSG00000141441 tier1 - - 37 0 0.00 42 4 8.70 GARNL3 0 genome.wustl.edu 37 9 130155584 130155584 + RNA SNP T T C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 9 130155584 130155584 T C SNP GARNL3 ENST00000496711 human ensembl 74_37 +1 known rna NULL NULL 0.972 - - - no_errors GARNL3 HGNC ENSG00000136895 tier1 - - 57 0 0.00 52 4 7.14 GPR32 0 genome.wustl.edu 37 19 51274851 51274851 + Missense_Mutation SNP A A C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 19 51274851 51274851 A C SNP GPR32 ENST00000270590 human ensembl 74_37 +1 known missense c.994 p.T332P 0.018 prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors GPR32 HGNC ENSG00000142511 tier1 rs201404376 - 60 0 0.00 50 5 9.09 GRID2 0 genome.wustl.edu 37 4 94145855 94145855 + Missense_Mutation SNP A A C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 4 94145855 94145855 A C SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.1054 p.S352R 0.995 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 tier1 - - 32 0 0.00 27 13 32.50 GRIN2A 0 genome.wustl.edu 37 16 9923301 9923301 + Silent SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 16 9923301 9923301 C T SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known silent c.1986 p.V662 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 tier1 - - 71 0 0.00 46 14 23.33 GSTM3 0 genome.wustl.edu 37 1 110282849 110282849 + RNA SNP A A G TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 110282849 110282849 A G SNP GSTM3 ENST00000488824 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GSTM3 HGNC ENSG00000134202 tier1 - - 28 0 0.00 14 6 30.00 GTDC1 0 genome.wustl.edu 37 2 144764923 144764923 + Missense_Mutation SNP T T C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 2 144764923 144764923 T C SNP GTDC1 ENST00000344850 human ensembl 74_37 -1 known missense c.701 p.E234G 0.000 NULL pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1 - no_errors GTDC1 HGNC ENSG00000121964 tier1 - - 58 0 0.00 40 8 16.67 HAVCR2 0 genome.wustl.edu 37 5 156535950 156535950 + Silent SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 5 156535950 156535950 C T SNP HAVCR2 ENST00000307851 human ensembl 74_37 -1 known silent c.45 p.L15 0.091 pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors HAVCR2 HGNC ENSG00000135077 tier1 - - 78 0 0.00 78 6 7.14 HECTD4 0 genome.wustl.edu 37 12 112690234 112690234 + Silent SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 12 112690234 112690234 G T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known silent c.3030 p.R1010 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 38 0 0.00 35 10 22.22 HLA-DRB5 0 genome.wustl.edu 37 6 32487265 32487265 + Missense_Mutation SNP C C G TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 6 32487265 32487265 C G SNP HLA-DRB5 ENST00000374975 human ensembl 74_37 -1 known missense c.534 p.Q178H 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DRB5 HGNC ENSG00000198502 tier1 rs139485758 - 15 0 0.00 11 5 31.25 HPS5 0 genome.wustl.edu 37 11 18320503 18320503 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 11 18320503 18320503 C T SNP HPS5 ENST00000349215 human ensembl 74_37 -1 known missense c.1000 p.A334T 1.000 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 tier1 - - 45 0 0.00 43 4 8.51 HSF1 0 genome.wustl.edu 37 8 145537251 145537251 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 8 145537251 145537251 G T SNP HSF1 ENST00000528838 human ensembl 74_37 +1 known missense c.1197 p.Q399H 1.000 pfam_Vert_HSTF_C pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF1 HGNC ENSG00000185122 23 0 0.00 45 4 8.16 HYDIN 0 genome.wustl.edu 37 16 71220807 71220808 + Frame_Shift_Ins INS - - T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 16 71220807 71220808 - T INS HYDIN ENST00000538248 human ensembl 74_37 -1 known frame_shift_ins c.73_72 p.L24fs 0.140:0.169 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 34 0 0.00 33 3 8.33 IGF2R 0 genome.wustl.edu 37 6 160523575 160523575 + Silent SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 6 160523575 160523575 C T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known silent c.6867 p.P2289 0.007 NULL pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 tier1 rs149900660 - 55 0 0.00 31 21 40.38 IL22RA1 0 genome.wustl.edu 37 1 24447325 24447325 + Silent SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 24447325 24447325 G T SNP IL22RA1 ENST00000270800 human ensembl 74_37 -1 novel silent c.1695 p.G565 0.987 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL22RA1 HGNC ENSG00000142677 tier1 - - 36 0 0.00 29 12 29.27 IL31RA 0 genome.wustl.edu 37 5 55212740 55212740 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 5 55212740 55212740 C T SNP IL31RA ENST00000447346 human ensembl 74_37 +1 known missense c.2087 p.P696L 0.004 NULL pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL31RA HGNC ENSG00000164509 39 0 0.00 36 3 7.69 INTU 0 genome.wustl.edu 37 4 128564917 128564917 + Frame_Shift_Del DEL A A - TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 4 128564917 128564917 A - DEL INTU ENST00000335251 human ensembl 74_37 +1 known frame_shift_del c.388 p.N132fs 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 tier1 44 0 0.00 31 2 6.06 IRF2BP2 0 genome.wustl.edu 37 1 234744487 234744487 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 234744487 234744487 G A SNP IRF2BP2 ENST00000366609 human ensembl 74_37 -1 novel missense c.754 p.R252C 0.052 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP2 HGNC ENSG00000168264 tier1 - - 9 0 0.00 3 7 70.00 IZUMO4 0 genome.wustl.edu 37 19 2097670 2097670 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 19 2097670 2097670 C T SNP IZUMO4 ENST00000395296 human ensembl 74_37 +1 known missense c.457 p.R153C 0.000 NULL NULL - no_errors IZUMO4 HGNC ENSG00000099840 tier1 - - 19 0 0.00 12 6 33.33 JARID2 0 genome.wustl.edu 37 6 15513490 15513490 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 6 15513490 15513490 G A SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.3287 p.R1096H 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 34 0 0.00 21 2 8.70 KAT2B 0 genome.wustl.edu 37 3 20136842 20136842 + Missense_Mutation SNP C C A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 3 20136842 20136842 C A SNP KAT2B ENST00000263754 human ensembl 74_37 +1 known missense c.518 p.T173N 1.000 pirsf_Hist_acetylase_PCAF,pfam_PCAF_N pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2B HGNC ENSG00000114166 tier1 - - 66 0 0.00 33 10 23.26 KIAA1024 0 genome.wustl.edu 37 15 79749285 79749285 + Missense_Mutation SNP A A C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 15 79749285 79749285 A C SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known missense c.796 p.N266H 1.000 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 tier1 - - 24 0 0.00 17 3 15.00 KIAA1755 0 genome.wustl.edu 37 20 36845807 36845807 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 20 36845807 36845807 C T SNP KIAA1755 ENST00000279024 human ensembl 74_37 -1 known missense c.2749 p.G917R 0.000 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 tier1 - - 60 0 0.00 73 4 5.19 KLHL23 0 genome.wustl.edu 37 2 170592353 170592353 + Missense_Mutation SNP A A T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 2 170592353 170592353 A T SNP KLHL23 ENST00000272797 human ensembl 74_37 +1 known missense c.829 p.I277L 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL23 HGNC ENSG00000213160 tier1 - - 42 0 0.00 38 20 34.48 KLK12 0 genome.wustl.edu 37 19 51532672 51532672 + Missense_Mutation SNP T T A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 19 51532672 51532672 T A SNP KLK12 ENST00000250351 human ensembl 74_37 -1 known missense c.633 p.Q211H 0.999 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK12 HGNC ENSG00000186474 tier1 - - 51 0 0.00 38 15 28.30 KRTAP10-5 0 genome.wustl.edu 37 21 46000435 46000435 + Silent SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 21 46000435 46000435 G A SNP KRTAP10-5 ENST00000400372 human ensembl 74_37 -1 known silent c.21 p.S7 0.777 NULL NULL - no_errors KRTAP10-5 HGNC ENSG00000241123 tier1 - - 149 0 0.00 79 34 30.09 LAMC1 0 genome.wustl.edu 37 1 183077522 183077522 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 183077522 183077522 G T SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.835 p.D279Y 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 tier1 - - 91 0 0.00 92 16 14.81 LINC00326 0 genome.wustl.edu 37 6 133421320 133421320 + RNA SNP T T A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 6 133421320 133421320 T A SNP LINC00326 ENST00000434443 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors LINC00326 HGNC ENSG00000231023 tier1 - - 59 0 0.00 56 4 6.67 LINGO2 0 genome.wustl.edu 37 9 27950666 27950666 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 9 27950666 27950666 G T SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.4 p.L2I 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 35 0 0.00 25 2 7.41 LOC100996870 0 genome.wustl.edu 37 9 66466650 66466650 + RNA SNP G G C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 9 66466650 66466650 G C SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.105 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 tier1 rs1133399 - 12 0 0.00 3 4 57.14 LOC643406 0 genome.wustl.edu 37 20 5454483 5454483 + RNA SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 20 5454483 5454483 G A SNP LOC643406 ENST00000430097 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-828H9.1 Clone_based_vega_gene ENSG00000230563 tier1 rs201294214 - 69 0 0.00 42 20 32.26 LPIN3 0 genome.wustl.edu 37 20 39980508 39980508 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 20 39980508 39980508 G T SNP LPIN3 ENST00000373257 human ensembl 74_37 +1 known missense c.1150 p.D384Y 1.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 tier1 - - 55 0 0.00 26 15 36.59 LRFN2 0 genome.wustl.edu 37 6 40400534 40400534 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 6 40400534 40400534 G T SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known missense c.319 p.L107I 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN2 HGNC ENSG00000156564 33 0 0.00 27 2 6.90 LRRC17 0 genome.wustl.edu 37 7 102575006 102575006 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 7 102575006 102575006 G A SNP LRRC17 ENST00000339431 human ensembl 74_37 +1 known missense c.646 p.E216K 0.059 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 71 0 0.00 85 7 7.61 LRRC53 0 genome.wustl.edu 37 1 74946499 74946499 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 74946499 74946499 G A SNP LRRC53 ENST00000294635 human ensembl 74_37 -1 novel missense c.242 p.T81M 0.004 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC53 HGNC ENSG00000162621 tier1 - - 32 0 0.00 12 7 36.84 LRRN3 0 genome.wustl.edu 37 7 110762973 110762973 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 7 110762973 110762973 G A SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.145 p.E49K 1.000 pfam_LRR-contain_N,smart_LRR-contain_N 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_dom - no_errors LRRN3 HGNC ENSG00000173114 tier1 - - 43 0 0.00 36 4 10.00 LY75 0 genome.wustl.edu 37 2 160711447 160711447 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 2 160711447 160711447 C T SNP LY75 ENST00000554112 human ensembl 74_37 -1 known missense c.2387 p.R796H 0.000 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 31 0 0.00 41 4 8.89 MAN2B1 0 genome.wustl.edu 37 19 12768292 12768292 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 19 12768292 12768292 G A SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known missense c.1387 p.R463C 0.530 pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 tier1 - - 29 0 0.00 13 4 23.53 MAP3K11 0 genome.wustl.edu 37 11 65375494 65375494 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 11 65375494 65375494 C T SNP MAP3K11 ENST00000309100 human ensembl 74_37 -1 known missense c.968 p.R323H 1.000 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K11 HGNC ENSG00000173327 tier1 - - 33 0 0.00 33 4 10.81 MAP4K2 0 genome.wustl.edu 37 11 64557073 64557073 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 11 64557073 64557073 G T SNP MAP4K2 ENST00000294066 human ensembl 74_37 -1 known missense c.2399 p.P800H 1.000 smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K2 HGNC ENSG00000168067 60 0 0.00 68 4 5.56 MBTD1 0 genome.wustl.edu 37 17 49270349 49270349 + Missense_Mutation SNP C C G TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 17 49270349 49270349 C G SNP MBTD1 ENST00000415868 human ensembl 74_37 -1 known missense c.1484 p.G495A 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors MBTD1 HGNC ENSG00000011258 tier1 - - 23 0 0.00 51 13 20.31 MDC1 0 genome.wustl.edu 37 6 30675997 30675997 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 6 30675997 30675997 C T SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.2359 p.G787R 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 tier1 rs148637924 - 100 0 0.00 52 50 48.54 MDH1B 0 genome.wustl.edu 37 2 207613753 207613753 + Missense_Mutation SNP A A T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 2 207613753 207613753 A T SNP MDH1B ENST00000374412 human ensembl 74_37 -1 known missense c.1207 p.L403M 0.001 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 49 0 0.00 57 4 6.56 MEFV 0 genome.wustl.edu 37 16 3299561 3299561 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 16 3299561 3299561 C T SNP MEFV ENST00000219596 human ensembl 74_37 -1 known missense c.1130 p.R377H 0.002 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 tier1 rs144998416 - 80 0 0.00 40 19 32.20 MEGF6 0 genome.wustl.edu 37 1 3413291 3413291 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 3413291 3413291 C T SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known missense c.3670 p.G1224R 0.942 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 tier1 - - 35 0 0.00 10 20 66.67 METAP2 0 genome.wustl.edu 37 12 95877035 95877037 + In_Frame_Del DEL AAG AAG - TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 12 95877035 95877037 AAG - DEL METAP2 ENST00000323666 human ensembl 74_37 +1 known in_frame_del c.304_306 p.K105in_frame_del 1.000:1.000:1.000 NULL pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2 - no_errors METAP2 HGNC ENSG00000111142 tier1 51 0 0.00 33 2 5.71 MIR3139 0 genome.wustl.edu 37 4 144264666 144264666 + RNA SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 4 144264666 144264666 C T SNP MIR3139 ENST00000579145 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MIR3139 HGNC ENSG00000265623 tier1 - - 63 0 0.00 49 19 27.54 MMP16 0 genome.wustl.edu 37 8 89339336 89339336 + Missense_Mutation SNP C C G TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 8 89339336 89339336 C G SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.100 p.V34L 1.000 pirsf_Pept_M10A_Metazoans pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 tier1 - - 41 0 0.00 36 13 26.53 MND1 0 genome.wustl.edu 37 4 154279649 154279649 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 4 154279649 154279649 C T SNP MND1 ENST00000240488 human ensembl 74_37 +1 known missense c.151 p.L51F 0.996 pfam_Mnd1,pfam_BlaI_family,pirsf_Mnd1 pfam_Mnd1,pfam_BlaI_family,pirsf_Mnd1 - no_errors MND1 HGNC ENSG00000121211 tier1 - - 37 0 0.00 15 19 55.88 MPHOSPH9 0 genome.wustl.edu 37 12 123637124 123637124 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 12 123637124 123637124 G T SNP MPHOSPH9 ENST00000302349 human ensembl 74_37 -1 known missense c.3043 p.H1015N 0.006 NULL superfamily_Prefoldin - no_errors MPHOSPH9 HGNC ENSG00000051825 tier1 - - 24 0 0.00 23 4 14.81 MRC2 0 genome.wustl.edu 37 17 60742136 60742136 + Missense_Mutation SNP G G C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 17 60742136 60742136 G C SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known missense c.346 p.A116P 1.000 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 24 0 0.00 43 5 10.42 MRPL16 0 genome.wustl.edu 37 11 59574020 59574020 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 11 59574020 59574020 C T SNP MRPL16 ENST00000300151 human ensembl 74_37 -1 known missense c.556 p.A186T 0.998 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,prints_Ribosomal_L16 - no_errors MRPL16 HGNC ENSG00000166902 tier1 - - 61 0 0.00 47 11 18.97 MRPL3 0 genome.wustl.edu 37 3 131217123 131217124 + Splice_Site INS - - A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 3 131217123 131217124 - A INS MRPL3 ENST00000264995 human ensembl 74_37 -1 known splice_site_ins c.370-3_370-2 e4-2 0.998:0.911 - - - no_errors MRPL3 HGNC ENSG00000114686 tier1 46 0 0.00 20 2 9.09 MSH6 0 genome.wustl.edu 37 2 48026147 48026147 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 2 48026147 48026147 C T SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known missense c.1025 p.A342V 0.996 pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 tier1 - - 37 0 0.00 50 4 7.41 MTSS1 0 genome.wustl.edu 37 8 125716370 125716370 + Splice_Site SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 8 125716370 125716370 C T SNP MTSS1 ENST00000518547 human ensembl 74_37 -1 known splice_site c.134+1 e2+1 1.000 - - - no_errors MTSS1 HGNC ENSG00000170873 tier1 - - 39 0 0.00 13 17 56.67 MYCBP2 0 genome.wustl.edu 37 13 77739439 77739439 + Missense_Mutation SNP A A G TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 13 77739439 77739439 A G SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.6428 p.I2143T 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 tier1 - - 35 0 0.00 54 20 27.03 MYOM1 0 genome.wustl.edu 37 18 3134771 3134771 + Nonsense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 18 3134771 3134771 G T SNP MYOM1 ENST00000356443 human ensembl 74_37 -1 known nonsense c.2261 p.S754* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 51 0 0.00 48 3 5.88 NAPSA 0 genome.wustl.edu 37 19 50861893 50861893 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 19 50861893 50861893 C T SNP NAPSA ENST00000253719 human ensembl 74_37 -1 known missense c.1180 p.A394T 0.295 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors NAPSA HGNC ENSG00000131400 tier1 - - 64 0 0.00 38 38 50.00 NBPF3 0 genome.wustl.edu 37 1 21807427 21807427 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 21807427 21807427 G T SNP NBPF3 ENST00000318249 human ensembl 74_37 +1 known missense c.1386 p.M462I 0.000 NULL pfam_NBPF_dom - no_errors NBPF3 HGNC ENSG00000142794 30 0 0.00 25 2 7.41 NCBP1 0 genome.wustl.edu 37 9 100407403 100407403 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 9 100407403 100407403 G A SNP NCBP1 ENST00000375147 human ensembl 74_37 +1 known missense c.386 p.R129H 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors NCBP1 HGNC ENSG00000136937 tier1 - - 96 0 0.00 84 5 5.62 NCOA6 0 genome.wustl.edu 37 20 33345407 33345407 + Nonsense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 20 33345407 33345407 G A SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known nonsense c.1144 p.Q382* 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 64 0 0.00 58 4 6.45 NES 0 genome.wustl.edu 37 1 156646866 156646866 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 156646866 156646866 C T SNP NES ENST00000368223 human ensembl 74_37 -1 known missense c.191 p.R64Q 0.987 pfam_IF pfam_IF - no_errors NES HGNC ENSG00000132688 tier1 - - 34 0 0.00 24 9 27.27 NFATC4 0 genome.wustl.edu 37 14 24838902 24838902 + Frame_Shift_Del DEL G G - TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 14 24838902 24838902 G - DEL NFATC4 ENST00000413692 human ensembl 74_37 +1 known frame_shift_del c.487 p.G164fs 0.035 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 tier1 18 0 0.00 26 2 7.14 NFATC4 0 genome.wustl.edu 37 14 24841738 24841738 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 14 24841738 24841738 C T SNP NFATC4 ENST00000413692 human ensembl 74_37 +1 known missense c.1477 p.R493W 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 tier1 - - 41 0 0.00 31 20 39.22 NIPBL 0 genome.wustl.edu 37 5 37020560 37020560 + Splice_Site SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 5 37020560 37020560 G T SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known splice_site c.5011-1 e25-1 1.000 - - - no_errors NIPBL HGNC ENSG00000164190 59 0 0.00 53 3 5.36 NKX2-4 0 genome.wustl.edu 37 20 21377967 21377967 + Missense_Mutation SNP T T C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 20 21377967 21377967 T C SNP NKX2-4 ENST00000351817 human ensembl 74_37 -1 known missense c.71 p.Y24C 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-4 HGNC ENSG00000125816 tier1 - - 24 0 0.00 29 17 36.96 NLRP5 0 genome.wustl.edu 37 19 56538278 56538278 + Splice_Site SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 19 56538278 56538278 G T SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known splice_site c.680-1 e7-1 0.001 - - - no_errors NLRP5 HGNC ENSG00000171487 tier1 - - 26 0 0.00 36 4 10.00 NPEPPS 0 genome.wustl.edu 37 17 45608675 45608675 + Silent SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 17 45608675 45608675 G T SNP NPEPPS ENST00000322157 human ensembl 74_37 +1 known silent c.9 p.L3 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC ENSG00000141279 tier1 - - 25 0 0.00 45 10 18.18 NPFFR1 0 genome.wustl.edu 37 10 72015106 72015106 + Silent SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 10 72015106 72015106 C T SNP NPFFR1 ENST00000277942 human ensembl 74_37 -1 novel silent c.900 p.A300 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_1,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR1 HGNC ENSG00000148734 tier1 - - 13 0 0.00 9 10 52.63 NUMA1 0 genome.wustl.edu 37 11 71718357 71718357 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 11 71718357 71718357 G A SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.5341 p.R1781W 1.000 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 tier1 - - 30 0 0.00 24 11 30.56 ODAM 0 genome.wustl.edu 37 4 71062422 71062422 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 4 71062422 71062422 G A SNP ODAM ENST00000396094 human ensembl 74_37 +1 known missense c.65 p.R22H 0.005 NULL NULL - no_errors ODAM HGNC ENSG00000109205 tier1 - - 58 0 0.00 46 13 22.03 ODF3L2 0 genome.wustl.edu 37 19 464039 464039 + Silent SNP C C A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 19 464039 464039 C A SNP ODF3L2 ENST00000315489 human ensembl 74_37 -1 known silent c.675 p.L225 1.000 pfam_SHIPPO-rpt pfam_SHIPPO-rpt - no_errors ODF3L2 HGNC ENSG00000181781 tier1 - - 33 0 0.00 13 7 35.00 OR10A4 0 genome.wustl.edu 37 11 6898665 6898665 + Missense_Mutation SNP C C A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 11 6898665 6898665 C A SNP OR10A4 ENST00000379829 human ensembl 74_37 +1 known missense c.787 p.P263T 0.631 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A4 HGNC ENSG00000170782 tier1 - - 27 0 0.00 13 9 40.91 OR10K1 0 genome.wustl.edu 37 1 158435970 158435970 + Silent SNP T T C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 158435970 158435970 T C SNP OR10K1 ENST00000289451 human ensembl 74_37 +1 known silent c.619 p.L207 0.211 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K1 HGNC ENSG00000173285 tier1 - - 66 0 0.00 53 12 18.46 OR6B2 0 genome.wustl.edu 37 2 240969167 240969167 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 2 240969167 240969167 C T SNP OR6B2 ENST00000402971 human ensembl 74_37 -1 known missense c.680 p.R227H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B2 HGNC ENSG00000182083 tier1 - - 37 0 0.00 36 6 13.95 OR6K6 0 genome.wustl.edu 37 1 158725236 158725236 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 158725236 158725236 C T SNP OR6K6 ENST00000368144 human ensembl 74_37 +1 known missense c.631 p.P211S 0.915 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 tier1 - - 36 0 0.00 21 8 27.59 OTC 0 genome.wustl.edu 37 X 38268008 38268008 + Missense_Mutation SNP A A T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 X 38268008 38268008 A T SNP OTC ENST00000039007 human ensembl 74_37 +1 known missense c.677 p.D226V 1.000 pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,tigrfam_Orn/put_carbamltrans pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Orn/put_carbamltrans,prints_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf,tigrfam_Orn/put_carbamltrans - no_errors OTC HGNC ENSG00000036473 tier1 - - 89 0 0.00 40 26 39.39 PACS1 0 genome.wustl.edu 37 11 66006623 66006623 + Silent SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 11 66006623 66006623 C T SNP PACS1 ENST00000320580 human ensembl 74_37 +1 known silent c.2304 p.D768 0.086 pfam_Phosphofurin_acidic_CS-1 pfam_Phosphofurin_acidic_CS-1 - no_errors PACS1 HGNC ENSG00000175115 tier1 - - 48 0 0.00 43 17 28.33 PARP8 0 genome.wustl.edu 37 5 49962737 49962738 + RNA INS - - CCT TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 5 49962737 49962738 - CCT INS PARP8 ENST00000513414 human ensembl 74_37 +1 putative rna NULL NULL 0.994:0.991 - - - no_errors PARP8 HGNC ENSG00000151883 tier1 33 0 0.00 28 4 12.50 PARVA 0 genome.wustl.edu 37 11 12495472 12495472 + Missense_Mutation SNP T T C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 11 12495472 12495472 T C SNP PARVA ENST00000334956 human ensembl 74_37 +1 known missense c.359 p.V120A 0.937 superfamily_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVA HGNC ENSG00000197702 54 0 0.00 61 4 6.15 PAX7 0 genome.wustl.edu 37 1 19029767 19029767 + Missense_Mutation SNP G G C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 19029767 19029767 G C SNP PAX7 ENST00000375375 human ensembl 74_37 +1 known missense c.1132 p.V378L 0.999 pfam_Pax7 pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX7 HGNC ENSG00000009709 tier1 - - 70 0 0.00 63 4 5.97 PCDHA10 0 genome.wustl.edu 37 5 140236457 140236457 + Missense_Mutation SNP A A T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 5 140236457 140236457 A T SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.824 p.E275V 0.983 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 tier1 - - 16 0 0.00 18 7 28.00 PCDHA8 0 genome.wustl.edu 37 5 140222186 140222186 + Missense_Mutation SNP C C G TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 5 140222186 140222186 C G SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.1280 p.A427G 0.951 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 46 0 0.00 57 6 9.52 PCDHA8 0 genome.wustl.edu 37 5 140222187 140222187 + Silent SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 5 140222187 140222187 G A SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known silent c.1281 p.A427 0.003 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 45 0 0.00 58 5 7.94 PCDHGA6 0 genome.wustl.edu 37 5 140755355 140755355 + Missense_Mutation SNP A A T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 5 140755355 140755355 A T SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known missense c.1705 p.T569S 0.622 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 tier1 - - 126 0 0.00 28 73 72.28 PDE4DIP 0 genome.wustl.edu 37 1 144930759 144930759 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 144930759 144930759 G T SNP PDE4DIP ENST00000313431 human ensembl 74_37 -1 known missense c.950 p.S317Y 1.000 NULL superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 81 0 0.00 83 5 5.68 PDE6B 0 genome.wustl.edu 37 4 661763 661765 + In_Frame_Del DEL AGG AGG - TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 4 661763 661765 AGG - DEL PDE6B ENST00000496514 human ensembl 74_37 +1 known in_frame_del c.2471_2473 p.E828in_frame_del 1.000:1.000:1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 tier1 23 0 0.00 14 3 17.65 PDZRN3 0 genome.wustl.edu 37 3 73453349 73453349 + Silent SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 3 73453349 73453349 C T SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known silent c.1116 p.K372 1.000 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 tier1 - - 67 0 0.00 29 17 36.96 PIK3R1 0 genome.wustl.edu 37 5 67522599 67522600 + In_Frame_Ins INS - - AAT TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 5 67522599 67522600 - AAT INS PIK3R1 ENST00000396611 human ensembl 74_37 +1 known in_frame_ins c.96_97 p.33in_frame_insN 1.000:1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 tier1 89 0 0.00 36 14 28.00 PLIN3 0 genome.wustl.edu 37 19 4839272 4839273 + Frame_Shift_Del DEL GT GT - TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 19 4839272 4839273 GT - DEL PLIN3 ENST00000221957 human ensembl 74_37 -1 known frame_shift_del c.1237_1236 p.P413fs 1.000:0.003 pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN3 HGNC ENSG00000105355 tier1 83 0 0.00 35 22 38.60 POLD2 0 genome.wustl.edu 37 7 44155474 44155474 + Silent SNP T T A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 7 44155474 44155474 T A SNP POLD2 ENST00000406581 human ensembl 74_37 -1 known silent c.1038 p.G346 0.954 pfam_DNA_pol_alpha/epsilon_bsu pfam_DNA_pol_alpha/epsilon_bsu - no_errors POLD2 HGNC ENSG00000106628 tier1 - - 41 0 0.00 22 20 47.62 PRAMEF5 0 genome.wustl.edu 37 1 13365910 13365910 + Missense_Mutation SNP A A C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 13365910 13365910 A C SNP PRAMEF5 ENST00000376168 human ensembl 74_37 +1 known missense c.354 p.E118D 0.028 NULL NULL - no_errors PRAMEF5 HGNC ENSG00000204502 tier1 - - 69 0 0.00 43 17 28.33 PRDM10 0 genome.wustl.edu 37 11 129788514 129788514 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 11 129788514 129788514 G A SNP PRDM10 ENST00000358825 human ensembl 74_37 -1 known missense c.2146 p.R716C 0.904 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 tier1 - - 60 0 0.00 58 17 22.67 PRIM2 0 genome.wustl.edu 37 6 57393103 57393103 + RNA SNP T T C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 6 57393103 57393103 T C SNP PRIM2 ENST00000550475 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PRIM2 HGNC ENSG00000146143 tier1 - - 87 0 0.00 68 13 16.05 PSD4 0 genome.wustl.edu 37 2 113940951 113940951 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 2 113940951 113940951 G T SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known missense c.918 p.L306F 0.028 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 tier1 - - 36 0 0.00 55 4 6.78 PTPRD 0 genome.wustl.edu 37 9 8500768 8500768 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 9 8500768 8500768 C T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.2114 p.R705Q 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 74 0 0.00 45 3 6.25 PTPRD 0 genome.wustl.edu 37 9 8733794 8733794 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 9 8733794 8733794 C T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.50 p.R17H 0.733 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 30 0 0.00 28 2 6.67 PTRH2 0 genome.wustl.edu 37 17 57756899 57756899 + RNA SNP T T C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 17 57756899 57756899 T C SNP PTRH2 ENST00000587935 human ensembl 74_37 -1 known rna NULL NULL 0.029 - - - no_errors PTRH2 HGNC ENSG00000141378 tier1 - - 34 0 0.00 50 10 16.39 RAD21L1 0 genome.wustl.edu 37 20 1234974 1234974 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 20 1234974 1234974 G A SNP RAD21L1 ENST00000409241 human ensembl 74_37 +1 known missense c.1544 p.R515Q 0.993 pfam_Rad21/Rec8_C_eu pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors RAD21L1 HGNC ENSG00000244588 40 0 0.00 45 4 8.16 RAG2 0 genome.wustl.edu 37 11 36615695 36615695 + Silent SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 11 36615695 36615695 G T SNP RAG2 ENST00000311485 human ensembl 74_37 -1 known silent c.24 p.V8 0.058 pfam_RAG2 pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD - no_errors RAG2 HGNC ENSG00000175097 47 0 0.00 28 2 6.67 RANBP6 0 genome.wustl.edu 37 9 6012712 6012712 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 9 6012712 6012712 C T SNP RANBP6 ENST00000259569 human ensembl 74_37 -1 known missense c.2896 p.A966T 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 tier1 - - 42 0 0.00 22 3 12.00 RBBP6 0 genome.wustl.edu 37 16 24578657 24578657 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 16 24578657 24578657 G T SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.1783 p.A595S 1.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 81 0 0.00 70 4 5.41 RDX 0 genome.wustl.edu 37 11 110128868 110128868 + Missense_Mutation SNP T T C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 11 110128868 110128868 T C SNP RDX ENST00000530749 human ensembl 74_37 -1 known missense c.514 p.I172V 1.000 pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Ez/rad/moesin_like,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC ENSG00000137710 29 0 0.00 32 3 8.57 RELN 0 genome.wustl.edu 37 7 103138602 103138602 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 7 103138602 103138602 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.8765 p.A2922V 0.997 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 53 0 0.00 66 4 5.71 RGS21 0 genome.wustl.edu 37 1 192321288 192321288 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 192321288 192321288 C T SNP RGS21 ENST00000417209 human ensembl 74_37 +1 known missense c.200 p.A67V 0.995 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS21 HGNC ENSG00000253148 41 0 0.00 48 3 5.88 RNF165 0 genome.wustl.edu 37 18 44036483 44036483 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 18 44036483 44036483 C T SNP RNF165 ENST00000269439 human ensembl 74_37 +1 known missense c.925 p.R309C 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF165 HGNC ENSG00000141622 32 0 0.00 11 7 38.89 RNF214 0 genome.wustl.edu 37 11 117152314 117152314 + Splice_Site SNP A A T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 11 117152314 117152314 A T SNP RNF214 ENST00000300650 human ensembl 74_37 +1 known splice_site c.1237-2 e9-2 0.989 - - - no_errors RNF214 HGNC ENSG00000167257 41 0 0.00 33 2 5.56 RNFT2 0 genome.wustl.edu 37 12 117289549 117289549 + Frame_Shift_Del DEL A A - TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 12 117289549 117289549 A - DEL RNFT2 ENST00000319176 human ensembl 74_37 +1 putative frame_shift_del c.766 p.K259fs 0.003 NULL NULL - no_errors RNFT2 HGNC ENSG00000135119 tier1 24 0 0.00 21 2 8.70 ROBO1 0 genome.wustl.edu 37 3 78689016 78689016 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 3 78689016 78689016 G A SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.2915 p.A972V 0.253 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 tier1 - - 24 0 0.00 14 4 22.22 RPS5 0 genome.wustl.edu 37 19 58904526 58904526 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 19 58904526 58904526 G A SNP RPS5 ENST00000196551 human ensembl 74_37 +1 known missense c.292 p.E98K 1.000 pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc - no_errors RPS5 HGNC ENSG00000083845 40 0 0.00 38 2 5.00 RPS8 0 genome.wustl.edu 37 1 45243860 45243860 + RNA DEL T T - TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 45243860 45243860 T - DEL RPS8 ENST00000484599 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RPS8 HGNC ENSG00000142937 tier1 26 0 0.00 19 2 9.52 SAMD9L 0 genome.wustl.edu 37 7 92762790 92762791 + Frame_Shift_Ins INS - - T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 7 92762790 92762791 - T INS SAMD9L ENST00000318238 human ensembl 74_37 -1 known frame_shift_ins c.2495_2494 p.T832fs 0.170:0.145 superfamily_P-loop_NTPase superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 tier1 57 0 0.00 47 23 32.86 SASH1 0 genome.wustl.edu 37 6 148792635 148792635 + Silent SNP A A C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 6 148792635 148792635 A C SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known silent c.510 p.S170 0.999 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 tier1 - - 73 0 0.00 47 23 32.86 SCN9A 0 genome.wustl.edu 37 2 167084183 167084183 + Silent SNP A A G TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 2 167084183 167084183 A G SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known silent c.4260 p.V1420 0.769 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 47 0 0.00 28 28 50.00 SCNM1 0 genome.wustl.edu 37 1 151139677 151139677 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 151139677 151139677 G A SNP SCNM1 ENST00000368905 human ensembl 74_37 +1 known missense c.292 p.E98K 0.367 NULL NULL - no_errors SCNM1 HGNC ENSG00000163156 tier1 - - 35 0 0.00 31 8 20.51 SLC14A1 0 genome.wustl.edu 37 18 43329755 43329755 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 18 43329755 43329755 G T SNP SLC14A1 ENST00000415427 human ensembl 74_37 +1 known missense c.1177 p.A393S 0.383 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A1 HGNC ENSG00000141469 51 0 0.00 32 3 8.57 SLC16A1 0 genome.wustl.edu 37 1 113464612 113464612 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 113464612 113464612 C T SNP SLC16A1 ENST00000369626 human ensembl 74_37 -1 known missense c.361 p.G121S 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A1 HGNC ENSG00000155380 tier1 - - 37 0 0.00 27 3 10.00 SLC16A2 0 genome.wustl.edu 37 X 73751298 73751298 + Missense_Mutation SNP A A T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 X 73751298 73751298 A T SNP SLC16A2 ENST00000276033 human ensembl 74_37 +1 known missense c.1752 p.R584S 0.985 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A2 HGNC ENSG00000147100 tier1 - - 27 0 0.00 21 4 16.00 SLC22A2 0 genome.wustl.edu 37 6 160677677 160677677 + Missense_Mutation SNP C C G TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 6 160677677 160677677 C G SNP SLC22A2 ENST00000366953 human ensembl 74_37 -1 known missense c.487 p.G163R 0.990 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A2 HGNC ENSG00000112499 48 0 0.00 32 2 5.88 SLC4A8 0 genome.wustl.edu 37 12 51845973 51845973 + Nonsense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 12 51845973 51845973 G T SNP SLC4A8 ENST00000453097 human ensembl 74_37 +1 known nonsense c.343 p.E115* 1.000 superfamily_PTrfase/Anion_transptr pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A8 HGNC ENSG00000050438 40 0 0.00 40 3 6.98 SLC5A11 0 genome.wustl.edu 37 16 24921729 24921729 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 16 24921729 24921729 C T SNP SLC5A11 ENST00000347898 human ensembl 74_37 +1 known missense c.1753 p.P585S 0.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC ENSG00000158865 53 0 0.00 45 3 6.25 SLCO3A1 0 genome.wustl.edu 37 15 92706461 92706462 + RNA DEL AC AC - TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 15 92706461 92706462 AC - DEL SLCO3A1 ENST00000555549 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors SLCO3A1 HGNC ENSG00000176463 tier1 37 0 0.00 24 2 7.69 SNAP25 0 genome.wustl.edu 37 20 10287918 10287918 + RNA SNP A A T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 20 10287918 10287918 A T SNP SNAP25 ENST00000495883 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNAP25 HGNC ENSG00000132639 tier1 - - 69 0 0.00 50 12 19.35 SNAPIN 0 genome.wustl.edu 37 1 153631933 153631933 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 153631933 153631933 G T SNP SNAPIN ENST00000368685 human ensembl 74_37 +1 known missense c.200 p.R67L 0.990 pirsf_Snapin pirsf_Snapin - no_errors SNAPIN HGNC ENSG00000143553 32 0 0.00 38 3 7.32 SPAG17 0 genome.wustl.edu 37 1 118539321 118539321 + Missense_Mutation SNP A A T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 118539321 118539321 A T SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.4822 p.L1608M 0.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 tier1 - - 26 0 0.00 9 10 52.63 SPATA31D1 0 genome.wustl.edu 37 9 84608742 84608742 + Missense_Mutation SNP A A C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 9 84608742 84608742 A C SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.3357 p.Q1119H 0.001 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 44 0 0.00 39 13 25.00 SPTA1 0 genome.wustl.edu 37 1 158618411 158618411 + Missense_Mutation SNP T T A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 158618411 158618411 T A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.3602 p.K1201M 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 23 0 0.00 28 4 12.50 SRP68 0 genome.wustl.edu 37 17 74036995 74036995 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 17 74036995 74036995 G A SNP SRP68 ENST00000307877 human ensembl 74_37 -1 known missense c.1589 p.A530V 1.000 NULL NULL - no_errors SRP68 HGNC ENSG00000167881 59 0 0.00 58 4 6.45 STAB2 0 genome.wustl.edu 37 12 104111582 104111582 + Missense_Mutation SNP A A G TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 12 104111582 104111582 A G SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.4646 p.D1549G 0.983 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 tier1 - - 54 0 0.00 43 16 27.12 STAT3 0 genome.wustl.edu 37 17 40491335 40491335 + Silent SNP C C A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 17 40491335 40491335 C A SNP STAT3 ENST00000264657 human ensembl 74_37 -1 known silent c.465 p.V155 0.757 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC ENSG00000168610 tier1 - - 22 0 0.00 50 14 21.88 TARS2 0 genome.wustl.edu 37 1 150463878 150463878 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 150463878 150463878 G T SNP TARS2 ENST00000369064 human ensembl 74_37 +1 known missense c.521 p.R174L 0.070 superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS2 HGNC ENSG00000143374 tier1 - - 43 0 0.00 55 4 6.78 TBC1D29 0 genome.wustl.edu 37 17 28887667 28887667 + Silent SNP T T C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 17 28887667 28887667 T C SNP TBC1D29 ENST00000579181 human ensembl 74_37 +1 known silent c.111 p.D37 1.000 superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D29 HGNC ENSG00000266733 tier1 rs78888987 - 79 0 0.00 62 6 8.82 TBX19 0 genome.wustl.edu 37 1 168269680 168269680 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 168269680 168269680 C T SNP TBX19 ENST00000367821 human ensembl 74_37 +1 known missense c.686 p.P229L 0.001 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX19 HGNC ENSG00000143178 tier1 - - 35 0 0.00 35 10 22.22 TCTEX1D4 0 genome.wustl.edu 37 1 45272226 45272226 + Nonsense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 45272226 45272226 G A SNP TCTEX1D4 ENST00000339355 human ensembl 74_37 -1 known nonsense c.115 p.R39* 0.002 NULL pfam_Tctex - no_errors TCTEX1D4 HGNC ENSG00000188396 tier1 - - 31 0 0.00 22 10 31.25 TDP2 0 genome.wustl.edu 37 6 24666321 24666321 + RNA DEL A A - TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 6 24666321 24666321 A - DEL TDP2 ENST00000480495 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors TDP2 HGNC ENSG00000111802 tier1 43 0 0.00 42 4 8.70 TEX15 0 genome.wustl.edu 37 8 30694786 30694786 + Nonsense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 8 30694786 30694786 G T SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known nonsense c.7865 p.S2622* 0.001 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 46 0 0.00 36 2 5.26 TMEM194A 0 genome.wustl.edu 37 12 57456971 57456971 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 12 57456971 57456971 G A SNP TMEM194A ENST00000300128 human ensembl 74_37 -1 known missense c.911 p.A304V 0.998 pfam_TMEM194 pfam_TMEM194 - no_errors TMEM194A HGNC ENSG00000166881 tier1 - - 48 0 0.00 29 27 48.21 TMEM67 0 genome.wustl.edu 37 8 94792886 94792886 + Silent SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 8 94792886 94792886 C T SNP TMEM67 ENST00000453321 human ensembl 74_37 +1 known silent c.780 p.Y260 0.034 pfam_Meckelin pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom - no_errors TMEM67 HGNC ENSG00000164953 tier1 - - 50 0 0.00 56 30 34.88 TMOD2 0 genome.wustl.edu 37 15 52075011 52075011 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 15 52075011 52075011 G A SNP TMOD2 ENST00000249700 human ensembl 74_37 +1 known missense c.718 p.D240N 1.000 NULL pfam_Tropomodulin - no_errors TMOD2 HGNC ENSG00000128872 32 0 0.00 33 3 8.33 TMPRSS11B 0 genome.wustl.edu 37 4 69094484 69094484 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 4 69094484 69094484 C T SNP TMPRSS11B ENST00000332644 human ensembl 74_37 -1 known missense c.1065 p.M355I 0.333 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11B HGNC ENSG00000185873 tier1 - - 33 0 0.00 10 7 41.18 TNR 0 genome.wustl.edu 37 1 175372433 175372433 + Silent SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 1 175372433 175372433 C T SNP TNR ENST00000263525 human ensembl 74_37 -1 known silent c.819 p.K273 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 tier1 - - 34 0 0.00 26 12 31.58 TNS1 0 genome.wustl.edu 37 2 218700896 218700896 + Missense_Mutation SNP C C A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 2 218700896 218700896 C A SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.2671 p.A891S 0.997 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 tier1 - - 73 0 0.00 71 22 23.40 TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.742 p.R248W 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs121912651 - 50 0 0.00 8 14 63.64 TPST1 0 genome.wustl.edu 37 7 65705856 65705856 + Silent SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 7 65705856 65705856 G A SNP TPST1 ENST00000304842 human ensembl 74_37 +1 known silent c.444 p.K148 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors TPST1 HGNC ENSG00000169902 35 0 0.00 27 2 6.90 TRIP10 0 genome.wustl.edu 37 19 6743720 6743720 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 19 6743720 6743720 C T SNP TRIP10 ENST00000313244 human ensembl 74_37 +1 known missense c.515 p.A172V 1.000 NULL pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 76 0 0.00 51 4 7.27 TRPM3 0 genome.wustl.edu 37 9 73225653 73225653 + Nonsense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 9 73225653 73225653 G A SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known nonsense c.2584 p.R862* 0.949 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 tier1 - - 66 0 0.00 75 17 18.48 TRPV2 0 genome.wustl.edu 37 17 16329551 16329551 + Missense_Mutation SNP C C A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 17 16329551 16329551 C A SNP TRPV2 ENST00000338560 human ensembl 74_37 +1 known missense c.1063 p.L355M 1.000 tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 tier1 - - 49 0 0.00 33 12 26.67 TSHZ3 0 genome.wustl.edu 37 19 31768189 31768189 + Missense_Mutation SNP G G C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 19 31768189 31768189 G C SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.2510 p.S837W 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 tier1 - - 27 0 0.00 19 12 38.71 TTC28-AS1 0 genome.wustl.edu 37 22 28388568 28388568 + RNA SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 22 28388568 28388568 G T SNP TTC28-AS1 ENST00000428584 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTC28-AS1 HGNC ENSG00000235954 tier1 - - 48 0 0.00 35 24 40.68 TTN 0 genome.wustl.edu 37 2 179428956 179428956 + Silent SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 2 179428956 179428956 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.74199 p.G24733 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 - - 40 0 0.00 33 4 10.81 UBE2O 0 genome.wustl.edu 37 17 74388061 74388061 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 17 74388061 74388061 C T SNP UBE2O ENST00000319380 human ensembl 74_37 -1 known missense c.3080 p.G1027D 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 tier1 - - 59 0 0.00 71 4 5.33 USP32P2 0 genome.wustl.edu 37 17 18417905 18417905 + RNA SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 17 18417905 18417905 C T SNP USP32P2 ENST00000412260 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors USP32P2 HGNC ENSG00000233327 tier1 - - 110 0 0.00 98 19 16.24 WNT7B 0 genome.wustl.edu 37 22 46345866 46345866 + Missense_Mutation SNP G G A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 22 46345866 46345866 G A SNP WNT7B ENST00000339464 human ensembl 74_37 -1 known missense c.232 p.R78C 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7B HGNC ENSG00000188064 tier1 - - 45 0 0.00 29 12 28.57 XRCC6BP1 0 genome.wustl.edu 37 12 58335569 58335569 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 12 58335569 58335569 C T SNP XRCC6BP1 ENST00000300145 human ensembl 74_37 +1 known missense c.85 p.P29S 1.000 NULL pfam_Peptidase_M76_ATP23 - no_errors XRCC6BP1 HGNC ENSG00000166896 tier1 - - 89 0 0.00 60 24 28.57 YTHDC2 0 genome.wustl.edu 37 5 112903395 112903395 + Silent SNP C C A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 5 112903395 112903395 C A SNP YTHDC2 ENST00000161863 human ensembl 74_37 +1 known silent c.3093 p.P1031 1.000 pfam_DUF1605 pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 28 0 0.00 32 2 5.88 ZNF25 0 genome.wustl.edu 37 10 38246038 38246038 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 10 38246038 38246038 G T SNP ZNF25 ENST00000302609 human ensembl 74_37 -1 known missense c.148 p.H50N 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF25 HGNC ENSG00000175395 43 0 0.00 35 2 5.41 ZNF562 0 genome.wustl.edu 37 19 9763755 9763755 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 19 9763755 9763755 G T SNP ZNF562 ENST00000448622 human ensembl 74_37 -1 known missense c.1151 p.S384Y 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF562 HGNC ENSG00000171466 92 0 0.00 40 4 9.09 ZNF608 0 genome.wustl.edu 37 5 123972613 123972614 + RNA INS - - A TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 5 123972613 123972614 - A INS ZNF608 ENST00000513985 human ensembl 74_37 -1 known rna NULL NULL 0.291:0.200 - - - no_errors ZNF608 HGNC ENSG00000168916 tier1 23 0 0.00 10 2 16.67 ZNF615 0 genome.wustl.edu 37 19 52497000 52497000 + Silent SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 19 52497000 52497000 G T SNP ZNF615 ENST00000594083 human ensembl 74_37 -1 known silent c.1362 p.L454 0.010 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF615 HGNC ENSG00000197619 tier1 - - 59 0 0.00 30 13 30.23 ZNF638 0 genome.wustl.edu 37 2 71650383 71650383 + Missense_Mutation SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 2 71650383 71650383 G T SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known missense c.3739 p.A1247S 0.998 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 tier1 - - 41 0 0.00 45 4 8.16 ZNF668 0 genome.wustl.edu 37 16 31075398 31075398 + Missense_Mutation SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 16 31075398 31075398 C T SNP ZNF668 ENST00000426488 human ensembl 74_37 -1 known missense c.452 p.R151H 0.994 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 28 0 0.00 23 5 17.86 ZNF804A 0 genome.wustl.edu 37 2 185803171 185803171 + Silent SNP T T C TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 877fae34-7fbe-4e7b-8ada-ac5c7f4ab2a5 0802d748-b6aa-4262-a6fe-e6c0dc5161a6 2 185803171 185803171 T C SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known silent c.3048 p.T1016 0.532 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 27 0 0.00 23 15 39.47