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 MASP2 0 genome.wustl.edu 37 1 11097870 11097870 + Splice_Site SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 11097870 11097870 T C SNP MASP2 ENST00000400897 human ensembl 74_37 -1 known splice_site c.890-2 e7-2 0.978 - - - no_errors MASP2 HGNC ENSG00000009724 104 0 0 63 5 7.35294 MFN2 0 genome.wustl.edu 37 1 12066617 12066617 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 12066617 12066617 C T SNP MFN2 ENST00000235329 human ensembl 74_37 +1 known missense c.1739 p.T580M 1.000 NULL pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN2 HGNC ENSG00000116688 78 0 0 53 4 7.01754 CPSF3L 0 genome.wustl.edu 37 1 1247494 1247494 + Silent SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 1247494 1247494 T C SNP CPSF3L ENST00000540437 human ensembl 74_37 -1 known silent c.1659 p.P553 0.013 NULL pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3L HGNC ENSG00000127054 9 0 0 11 3 21.4286 PDE4DIP 0 genome.wustl.edu 37 1 144892218 144892218 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 144892218 144892218 A G SNP PDE4DIP ENST00000313431 human ensembl 74_37 -1 known missense c.3395 p.L1132P 0.997 NULL superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 28 0 0 24 2 7.69231 CHD1L 0 genome.wustl.edu 37 1 146756150 146756150 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 146756150 146756150 G A SNP CHD1L ENST00000369258 human ensembl 74_37 +1 known missense c.1832 p.R611Q 0.998 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Macro_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors CHD1L HGNC ENSG00000131778 105 0 0 103 9 8.03571 OTUD7B 0 genome.wustl.edu 37 1 149931626 149931626 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 149931626 149931626 A G SNP OTUD7B ENST00000369135 human ensembl 74_37 -1 known silent c.822 p.G274 0.998 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 95 0 0 64 7 9.85915 SELENBP1 0 genome.wustl.edu 37 1 151337748 151337748 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 151337748 151337748 C T SNP SELENBP1 ENST00000426705 human ensembl 74_37 -1 known missense c.1180 p.G394R 0.994 pfam_Se-bd pfam_Se-bd - no_errors SELENBP1 HGNC ENSG00000143416 20 0 0 15 2 11.7647 SNX27 0 genome.wustl.edu 37 1 151638414 151638414 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 151638414 151638414 C T SNP SNX27 ENST00000368843 human ensembl 74_37 +1 known silent c.912 p.I304 0.993 pfam_Ras-assoc,pfscan_Ras-assoc pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX27 HGNC ENSG00000143376 63 0 0 42 5 10.6383 SPRR4 0 genome.wustl.edu 37 1 152944416 152944416 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 152944416 152944416 G A SNP SPRR4 ENST00000328051 human ensembl 74_37 +1 known missense c.50 p.R17K 0.744 NULL pfam_Cornifin - no_errors SPRR4 HGNC ENSG00000184148 123 0 0 102 7 6.42202 SPRR2A 0 genome.wustl.edu 37 1 153029100 153029100 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 153029100 153029100 G A SNP SPRR2A ENST00000392653 human ensembl 74_37 -1 known missense c.112 p.P38S 0.546 NULL NULL - no_errors SPRR2A HGNC ENSG00000241794 91 0 0 90 7 7.21649 S100A2 0 genome.wustl.edu 37 1 153536279 153536279 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 153536279 153536279 G A SNP S100A2 ENST00000368708 human ensembl 74_37 -1 known silent c.72 p.G24 0.066 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors S100A2 HGNC ENSG00000196754 49 0 0 53 5 8.62069 ZBTB7B 0 genome.wustl.edu 37 1 154988858 154988858 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 154988858 154988858 C T SNP ZBTB7B ENST00000417934 human ensembl 74_37 +1 known silent c.1419 p.F473 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7B HGNC ENSG00000160685 88 0 0 42 4 8.69565 ASH1L 0 genome.wustl.edu 37 1 155491309 155491309 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 155491309 155491309 A G SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.2 p.M1T 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 149 0 0 113 31 21.5278 NES 0 genome.wustl.edu 37 1 156642793 156642793 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 156642793 156642793 G A SNP NES ENST00000368223 human ensembl 74_37 -1 known missense c.1187 p.A396V 0.043 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 152 0 0 134 8 5.6338 OR10K2 0 genome.wustl.edu 37 1 158390265 158390265 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 158390265 158390265 C T SNP OR10K2 ENST00000314902 human ensembl 74_37 -1 known missense c.392 p.R131H 1.000 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 OR10K2 HGNC ENSG00000180708 84 0 0 76 6 7.31707 CADM3 0 genome.wustl.edu 37 1 159166166 159166166 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 159166166 159166166 C T SNP CADM3 ENST00000368124 human ensembl 74_37 +1 known missense c.806 p.A269V 0.044 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM3 HGNC ENSG00000162706 41 0 0 17 6 26.087 EPHA2 0 genome.wustl.edu 37 1 16464570 16464570 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 16464570 16464570 C T SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known missense c.1090 p.V364I 0.984 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 39 0 0 27 3 10 DUSP27 0 genome.wustl.edu 37 1 167096392 167096392 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 167096392 167096392 C T SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known missense c.2024 p.T675M 0.333 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 32 0 0 28 6 17.6471 PRRC2C 0 genome.wustl.edu 37 1 171510344 171510344 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 171510344 171510344 C T SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known missense c.3739 p.R1247W 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 59 0 0 44 3 6.38298 DNM3 0 genome.wustl.edu 37 1 171810899 171810899 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 171810899 171810899 G A SNP DNM3 ENST00000358155 human ensembl 74_37 +1 known missense c.103 p.A35T 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM3 HGNC ENSG00000197959 19 0 0 11 3 21.4286 TNFSF4 0 genome.wustl.edu 37 1 173155859 173155859 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 173155859 173155859 G A SNP TNFSF4 ENST00000281834 human ensembl 74_37 -1 known silent c.348 p.S116 0.000 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom - no_errors TNFSF4 HGNC ENSG00000117586 59 0 0 42 5 10.6383 TNR 0 genome.wustl.edu 37 1 175306748 175306748 + Silent SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 175306748 175306748 C A SNP TNR ENST00000263525 human ensembl 74_37 -1 known silent c.3450 p.G1150 0.920 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_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 47 0 0 31 3 8.82353 ACTL8 0 genome.wustl.edu 37 1 18149808 18149808 + Missense_Mutation SNP A A T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 18149808 18149808 A T SNP ACTL8 ENST00000375406 human ensembl 74_37 +1 known missense c.305 p.E102V 0.881 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL8 HGNC ENSG00000117148 90 0 0 63 7 10 LAMC2 0 genome.wustl.edu 37 1 183203526 183203526 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 183203526 183203526 G A SNP LAMC2 ENST00000264144 human ensembl 74_37 +1 known missense c.2245 p.V749M 0.001 NULL pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 43 0 0 27 2 6.89655 TPR 0 genome.wustl.edu 37 1 186326529 186326529 + Missense_Mutation SNP T T G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 186326529 186326529 T G SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.1724 p.K575T 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 47 0 0 52 6 10.3448 TAS1R2 0 genome.wustl.edu 37 1 19180859 19180859 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 19180859 19180859 C T SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel missense c.1105 p.A369T 0.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 36 0 0 17 3 15 ALDH4A1 0 genome.wustl.edu 37 1 19209681 19209681 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 19209681 19209681 C T SNP ALDH4A1 ENST00000290597 human ensembl 74_37 -1 known silent c.615 p.A205 0.007 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH - no_errors ALDH4A1 HGNC ENSG00000159423 72 0 0 55 6 9.83607 UBR4 0 genome.wustl.edu 37 1 19426949 19426949 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 19426949 19426949 G A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.13142 p.P4381L 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 128 0 0 105 7 6.25 UBR4 0 genome.wustl.edu 37 1 19441953 19441953 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 19441953 19441953 G A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.11002 p.P3668S 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 120 1 0.826446 86 8 8.51064 CFH 0 genome.wustl.edu 37 1 196642190 196642190 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 196642190 196642190 G T SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.141 p.Q47H 0.006 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 40 0 0 63 8 11.2676 PKP1 0 genome.wustl.edu 37 1 201289462 201289462 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 201289462 201289462 A G SNP PKP1 ENST00000263946 human ensembl 74_37 +1 known missense c.1363 p.M455V 0.975 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 45 0 0 26 4 13.3333 TNNT2 0 genome.wustl.edu 37 1 201334426 201334426 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 201334426 201334426 G A SNP TNNT2 ENST00000458432 human ensembl 74_37 -1 known missense c.310 p.R104W 1.000 NULL pfam_Troponin - no_errors TNNT2 HGNC ENSG00000118194 197 0 0 115 19 14.1791 IPO9 0 genome.wustl.edu 37 1 201821312 201821312 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 201821312 201821312 A G SNP IPO9 ENST00000361565 human ensembl 74_37 +1 known missense c.595 p.M199V 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC ENSG00000198700 36 0 0 32 5 13.5135 ELF3 0 genome.wustl.edu 37 1 201984401 201984401 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 201984401 201984401 A G SNP ELF3 ENST00000359651 human ensembl 74_37 +1 known missense c.1066 p.K356E 1.000 pfam_Ets_dom,smart_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF3 HGNC ENSG00000163435 73 0 0 49 3 5.76923 KDM5B 0 genome.wustl.edu 37 1 202702680 202702680 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 202702680 202702680 C T SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known missense c.3866 p.R1289Q 0.993 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 76 0 0 66 6 8.33333 OPTC 0 genome.wustl.edu 37 1 203468789 203468789 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 203468789 203468789 G T SNP OPTC ENST00000367222 human ensembl 74_37 +1 known missense c.542 p.R181M 0.992 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors OPTC HGNC ENSG00000188770 204 0 0 94 14 12.963 RBBP5 0 genome.wustl.edu 37 1 205069381 205069381 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 205069381 205069381 C T SNP RBBP5 ENST00000264515 human ensembl 74_37 -1 known silent c.651 p.T217 1.000 smart_WD40_repeat pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RBBP5 HGNC ENSG00000117222 61 0 0 53 5 8.62069 TMCC2 0 genome.wustl.edu 37 1 205238926 205238926 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 205238926 205238926 C T SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known silent c.1596 p.H532 1.000 pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 158 0 0 79 8 9.1954 FCAMR 0 genome.wustl.edu 37 1 207131973 207131973 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 207131973 207131973 T C SNP FCAMR ENST00000324852 human ensembl 74_37 -1 novel missense c.1622 p.E541G 0.058 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCAMR HGNC ENSG00000162897 174 0 0 87 6 6.45161 KCNH1 0 genome.wustl.edu 37 1 211192542 211192542 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 211192542 211192542 A G SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known silent c.615 p.T205 0.990 prints_K_chnl_volt-dep_EAG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 59 0 0 53 4 7.01754 MARC2 0 genome.wustl.edu 37 1 220953436 220953436 + RNA SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 220953436 220953436 T C SNP MARC2 ENST00000472447 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MARC2 HGNC ENSG00000117791 163 0 0 112 13 10.4 ADCK3 0 genome.wustl.edu 37 1 227169738 227169738 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 227169738 227169738 C T SNP ADCK3 ENST00000366777 human ensembl 74_37 +1 known silent c.741 p.A247 0.079 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK3 HGNC ENSG00000163050 48 0 0 32 4 11.1111 LYST 0 genome.wustl.edu 37 1 235969041 235969041 + Splice_Site SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 235969041 235969041 A G SNP LYST ENST00000389793 human ensembl 74_37 -1 known splice_site c.3393+2 e4+2 1.000 - - - no_errors LYST HGNC ENSG00000143669 40 0 0 25 8 24.2424 ERO1LB 0 genome.wustl.edu 37 1 236406753 236406753 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 236406753 236406753 A G SNP ERO1LB ENST00000354619 human ensembl 74_37 -1 known silent c.474 p.D158 1.000 pfam_Ero1,pirsf_Ero1 pfam_Ero1,pirsf_Ero1 - no_errors ERO1LB HGNC ENSG00000086619 22 0 0 20 4 16.6667 CNR2 0 genome.wustl.edu 37 1 24201095 24201095 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 24201095 24201095 G A SNP CNR2 ENST00000374472 human ensembl 74_37 -1 known missense c.1013 p.T338I 0.006 prints_Canbinoid_rcpt_2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_2,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR2 HGNC ENSG00000188822 143 0 0 119 9 7.03125 DESI2 0 genome.wustl.edu 37 1 244816668 244816668 + RNA SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 244816668 244816668 C T SNP DESI2 ENST00000484738 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors DESI2 HGNC ENSG00000121644 47 0 0 36 4 10 ZNF496 0 genome.wustl.edu 37 1 247464167 247464167 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 247464167 247464167 C T SNP ZNF496 ENST00000366498 human ensembl 74_37 -1 known missense c.1526 p.R509H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 69 0 0 52 5 8.77193 OR6F1 0 genome.wustl.edu 37 1 247875693 247875693 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 247875693 247875693 C T SNP OR6F1 ENST00000302084 human ensembl 74_37 -1 known missense c.365 p.R122H 0.954 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 OR6F1 HGNC ENSG00000169214 88 0 0 64 14 17.9487 RHD 0 genome.wustl.edu 37 1 25633166 25633166 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 25633166 25633166 A G SNP RHD ENST00000328664 human ensembl 74_37 +1 known missense c.1019 p.E340G 0.036 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHD HGNC ENSG00000187010 281 0 0 157 10 5.98802 PHC2 0 genome.wustl.edu 37 1 33820749 33820749 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 33820749 33820749 G T SNP PHC2 ENST00000419414 human ensembl 74_37 -1 known missense c.1082 p.P361Q 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 35 0 0 24 3 11.1111 MACF1 0 genome.wustl.edu 37 1 39914433 39914433 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 39914433 39914433 G T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.14079 p.E4693D 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 78 0 0 51 8 13.5593 RIMKLA 0 genome.wustl.edu 37 1 42865221 42865221 + Missense_Mutation SNP A A C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 42865221 42865221 A C SNP RIMKLA ENST00000431473 human ensembl 74_37 +1 known missense c.310 p.S104R 1.000 tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLA HGNC ENSG00000177181 18 0 0 24 4 14.2857 HECTD3 0 genome.wustl.edu 37 1 45473239 45473239 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 45473239 45473239 C T SNP HECTD3 ENST00000372172 human ensembl 74_37 -1 known missense c.1349 p.R450H 1.000 NULL pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC ENSG00000126107 72 0 0 47 7 12.963 LURAP1 0 genome.wustl.edu 37 1 46685444 46685444 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 46685444 46685444 G A SNP LURAP1 ENST00000371980 human ensembl 74_37 +1 known missense c.272 p.R91H 0.995 NULL NULL - no_errors LURAP1 HGNC ENSG00000171357 72 0 0 50 8 13.7931 ZYG11B 0 genome.wustl.edu 37 1 53250615 53250615 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 53250615 53250615 G A SNP ZYG11B ENST00000294353 human ensembl 74_37 +1 known missense c.1159 p.V387I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors ZYG11B HGNC ENSG00000162378 93 0 0 88 8 8.33333 CHD5 0 genome.wustl.edu 37 1 6214827 6214827 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 6214827 6214827 A G SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.638 p.V213A 1.000 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 43 0 0 27 4 12.9032 ZBTB48 0 genome.wustl.edu 37 1 6641353 6641353 + Silent SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 6641353 6641353 T C SNP ZBTB48 ENST00000377674 human ensembl 74_37 +1 known silent c.684 p.S228 0.994 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB48 HGNC ENSG00000204859 54 0 0 24 5 17.2414 INSL5 0 genome.wustl.edu 37 1 67266795 67266795 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 67266795 67266795 A G SNP INSL5 ENST00000304526 human ensembl 74_37 -1 known missense c.110 p.V37A 0.010 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like - no_errors INSL5 HGNC ENSG00000172410 46 0 0 52 7 11.8644 MCOLN3 0 genome.wustl.edu 37 1 85488152 85488152 + RNA SNP A A T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 85488152 85488152 A T SNP MCOLN3 ENST00000474447 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MCOLN3 HGNC ENSG00000055732 19 0 0 10 5 33.3333 GBP6 0 genome.wustl.edu 37 1 89847447 89847447 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 89847447 89847447 C T SNP GBP6 ENST00000370456 human ensembl 74_37 +1 known missense c.1066 p.H356Y 0.706 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP6 HGNC ENSG00000183347 57 0 0 51 4 7.27273 GCLM 0 genome.wustl.edu 37 1 94354581 94354581 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 94354581 94354581 C A SNP GCLM ENST00000370238 human ensembl 74_37 -1 known missense c.790 p.G264C 1.000 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors GCLM HGNC ENSG00000023909 114 0 0 84 10 10.6383 AGRN 0 genome.wustl.edu 37 1 979719 979719 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 979719 979719 C T SNP AGRN ENST00000379370 human ensembl 74_37 +1 known silent c.2154 p.C718 0.983 pfam_Kazal_dom,smart_Kazal_dom pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 63 0 0 29 3 9.375 POLL 0 genome.wustl.edu 37 10 103339364 103339364 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 103339364 103339364 A G SNP POLL ENST00000299206 human ensembl 74_37 -1 known missense c.1574 p.M525T 1.000 smart_DNA-dir_DNA_pol_X pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_pol_X_beta-like,prints_DNA_pol_X - no_errors POLL HGNC ENSG00000166169 115 0 0 75 8 9.63855 PDCD4 0 genome.wustl.edu 37 10 112641116 112641116 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 112641116 112641116 G A SNP PDCD4 ENST00000280154 human ensembl 74_37 +1 known missense c.169 p.A57T 1.000 NULL pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI - no_errors PDCD4 HGNC ENSG00000150593 84 0 0 75 8 9.63855 TCF7L2 0 genome.wustl.edu 37 10 114925398 114925398 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 114925398 114925398 G A SNP TCF7L2 ENST00000355995 human ensembl 74_37 +1 known silent c.1527 p.S509 0.994 NULL pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L2 HGNC ENSG00000148737 177 0 0 126 10 7.35294 TACC2 0 genome.wustl.edu 37 10 123842651 123842651 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 123842651 123842651 G A SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known silent c.636 p.P212 0.041 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 61 0 0 40 4 9.09091 DMBT1 0 genome.wustl.edu 37 10 124348577 124348577 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 124348577 124348577 A G SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.1901 p.N634S 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 501 1 0.199203 327 33 9.16667 DMBT1 0 genome.wustl.edu 37 10 124348581 124348581 + Silent SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 124348581 124348581 T C SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known silent c.1905 p.D635 0.999 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 494 0 0 329 34 9.36639 FAM196A 0 genome.wustl.edu 37 10 128974382 128974382 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 128974382 128974382 C T SNP FAM196A ENST00000522781 human ensembl 74_37 -1 known missense c.278 p.R93H 0.995 NULL NULL - no_errors FAM196A HGNC ENSG00000188916 84 0 0 45 7 13.4615 OPTN 0 genome.wustl.edu 37 10 13174160 13174160 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 13174160 13174160 C T SNP OPTN ENST00000263036 human ensembl 74_37 +1 known silent c.1495 p.L499 0.069 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 100 0 0 53 5 8.62069 KNDC1 0 genome.wustl.edu 37 10 135026342 135026342 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 135026342 135026342 C T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known silent c.4365 p.C1455 0.113 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 43 0 0 31 6 16.2162 RPP38 0 genome.wustl.edu 37 10 15145637 15145637 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 15145637 15145637 C T SNP RPP38 ENST00000378197 human ensembl 74_37 +1 known silent c.324 p.H108 0.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors RPP38 HGNC ENSG00000152464 50 0 0 21 6 22.2222 ITGA8 0 genome.wustl.edu 37 10 15590532 15590532 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 15590532 15590532 A G SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known silent c.2802 p.C934 0.030 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 50 0 0 27 5 15.625 GPR158 0 genome.wustl.edu 37 10 25887710 25887710 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 25887710 25887710 C A SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.3155 p.P1052H 0.524 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 95 0 0 84 12 12.5 KIAA1462 0 genome.wustl.edu 37 10 30315304 30315304 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 30315304 30315304 C T SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known missense c.3773 p.R1258H 0.998 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 99 0 0 66 6 8.33333 ZNF488 0 genome.wustl.edu 37 10 48370748 48370748 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 48370748 48370748 G A SNP ZNF488 ENST00000395702 human ensembl 74_37 +1 known silent c.216 p.A72 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF488 HGNC ENSG00000165388 51 0 0 45 3 6.25 ARHGAP22 0 genome.wustl.edu 37 10 49654545 49654545 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 49654545 49654545 C T SNP ARHGAP22 ENST00000417912 human ensembl 74_37 -1 known silent c.2034 p.A678 0.002 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP22 HGNC ENSG00000128805 103 0 0 60 12 16.6667 OGDHL 0 genome.wustl.edu 37 10 50959982 50959982 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 50959982 50959982 C T SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.640 p.D214N 0.983 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 263 0 0 169 26 13.3333 AGAP6 0 genome.wustl.edu 37 10 51748492 51748492 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 51748492 51748492 C T SNP AGAP6 ENST00000374056 human ensembl 74_37 +1 known missense c.17 p.T6I 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ENSG00000204149 39 0 0 26 5 16.129 IL15RA 0 genome.wustl.edu 37 10 6002342 6002342 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 6002342 6002342 G T SNP IL15RA ENST00000379977 human ensembl 74_37 -1 known missense c.571 p.H191N 0.008 NULL superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors IL15RA HGNC ENSG00000134470 138 0 0 91 5 5.20833 TMEM26 0 genome.wustl.edu 37 10 63170171 63170171 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 63170171 63170171 T C SNP TMEM26 ENST00000399298 human ensembl 74_37 -1 known missense c.1016 p.Q339R 0.000 NULL pfam_Transmembrane_26 - no_errors TMEM26 HGNC ENSG00000196932 24 0 0 42 5 10.6383 DNAJC12 0 genome.wustl.edu 37 10 69565413 69565413 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 69565413 69565413 C T SNP DNAJC12 ENST00000225171 human ensembl 74_37 -1 known missense c.430 p.A144T 0.433 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC12 HGNC ENSG00000108176 280 0 0 236 21 8.17121 HK1 0 genome.wustl.edu 37 10 71139659 71139659 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 71139659 71139659 G A SNP HK1 ENST00000448642 human ensembl 74_37 +1 known missense c.1178 p.R393H 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 159 0 0 104 6 5.45455 TACR2 0 genome.wustl.edu 37 10 71175906 71175906 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 71175906 71175906 G A SNP TACR2 ENST00000373306 human ensembl 74_37 -1 known silent c.174 p.I58 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK2_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors TACR2 HGNC ENSG00000075073 73 0 0 45 3 6.25 PALD1 0 genome.wustl.edu 37 10 72285775 72285775 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 72285775 72285775 G A SNP PALD1 ENST00000263563 human ensembl 74_37 +1 known missense c.68 p.G23D 0.977 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 64 0 0 39 5 11.3636 CDH23 0 genome.wustl.edu 37 10 73464803 73464803 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 73464803 73464803 C T SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.2884 p.R962C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 102 0 0 64 5 7.24638 DDIT4 0 genome.wustl.edu 37 10 74034058 74034058 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 74034058 74034058 G A SNP DDIT4 ENST00000307365 human ensembl 74_37 +1 known silent c.84 p.R28 1.000 NULL pfam_RTP801-like - no_errors DDIT4 HGNC ENSG00000168209 100 0 0 74 6 7.5 ENSG00000242288 0 genome.wustl.edu 37 10 75482256 75482256 + RNA SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 75482256 75482256 A G SNP ENSG00000242288 ENST00000399449 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-464F9.1 Clone_based_vega_gene ENSG00000242288 123 0 0 80 9 10.1124 CEP55 0 genome.wustl.edu 37 10 95287825 95287825 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 95287825 95287825 T C SNP CEP55 ENST00000371485 human ensembl 74_37 +1 known missense c.1310 p.L437P 1.000 NULL pfam_EABR - no_errors CEP55 HGNC ENSG00000138180 80 0 0 56 8 12.5 CYP2C19 0 genome.wustl.edu 37 10 96602617 96602617 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 96602617 96602617 C T SNP CYP2C19 ENST00000371321 human ensembl 74_37 +1 known missense c.985 p.R329C 0.032 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C19 HGNC ENSG00000165841 112 0 0 79 10 11.236 PGR 0 genome.wustl.edu 37 11 100998685 100998685 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 100998685 100998685 C T SNP PGR ENST00000325455 human ensembl 74_37 -1 known missense c.1117 p.A373T 0.879 pfam_Progest_rcpt pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 37 0 0 31 2 6.06061 PDGFD 0 genome.wustl.edu 37 11 104034581 104034581 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 104034581 104034581 C T SNP PDGFD ENST00000393158 human ensembl 74_37 -1 known silent c.75 p.P25 0.981 NULL pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFD HGNC ENSG00000170962 41 0 0 28 5 15.1515 EXPH5 0 genome.wustl.edu 37 11 108383972 108383972 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 108383972 108383972 G A SNP EXPH5 ENST00000265843 human ensembl 74_37 -1 known silent c.2262 p.N754 0.000 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 115 0 0 98 19 16.2393 LAYN 0 genome.wustl.edu 37 11 111425294 111425294 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 111425294 111425294 G A SNP LAYN ENST00000375615 human ensembl 74_37 +1 known missense c.574 p.A192T 0.801 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors LAYN HGNC ENSG00000204381 94 0 0 63 7 10 PPP2R1B 0 genome.wustl.edu 37 11 111623020 111623020 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 111623020 111623020 C A SNP PPP2R1B ENST00000311129 human ensembl 74_37 -1 known missense c.1201 p.D401Y 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1B HGNC ENSG00000137713 97 0 0 71 10 12.3457 USP28 0 genome.wustl.edu 37 11 113711447 113711447 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 113711447 113711447 C T SNP USP28 ENST00000003302 human ensembl 74_37 -1 known missense c.407 p.R136H 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 67 0 0 46 9 16.3636 MPZL2 0 genome.wustl.edu 37 11 118133655 118133655 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 118133655 118133655 A G SNP MPZL2 ENST00000438295 human ensembl 74_37 -1 known silent c.216 p.P72 0.021 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,prints_Myelin_P0 - no_errors MPZL2 HGNC ENSG00000149573 181 0 0 160 25 13.5135 BCL9L 0 genome.wustl.edu 37 11 118773299 118773299 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 118773299 118773299 C T SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.1153 p.A385T 0.010 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 54 0 0 33 5 13.1579 KIRREL3 0 genome.wustl.edu 37 11 126318959 126318959 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 126318959 126318959 A G SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known silent c.942 p.C314 0.459 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 93 0 0 62 8 11.4286 MRGPRX2 0 genome.wustl.edu 37 11 19077802 19077802 + Missense_Mutation SNP A A C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 19077802 19077802 A C SNP MRGPRX2 ENST00000329773 human ensembl 74_37 -1 known missense c.148 p.F50V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX2 HGNC ENSG00000183695 159 0 0 139 11 7.33333 LSP1 0 genome.wustl.edu 37 11 1908026 1908026 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 1908026 1908026 C T SNP LSP1 ENST00000311604 human ensembl 74_37 +1 known missense c.782 p.A261V 1.000 pfam_Caldesmon_LSP,prints_Lymphspecific pfam_Caldesmon_LSP,prints_Lymphspecific - no_errors LSP1 HGNC ENSG00000130592 109 0 0 65 7 9.72222 ANO3 0 genome.wustl.edu 37 11 26681879 26681879 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 26681879 26681879 G A SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known missense c.2834 p.R945Q 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 65 0 0 93 5 5.10204 CKAP5 0 genome.wustl.edu 37 11 46792495 46792495 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 46792495 46792495 C T SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known missense c.3029 p.R1010H 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 74 0 0 72 15 17.2414 MYBPC3 0 genome.wustl.edu 37 11 47364468 47364468 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 47364468 47364468 G A SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known missense c.1370 p.T457M 0.662 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 22 0 0 20 3 13.0435 SLC39A13 0 genome.wustl.edu 37 11 47431938 47431938 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 47431938 47431938 G A SNP SLC39A13 ENST00000362021 human ensembl 74_37 +1 known missense c.293 p.R98H 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A13 HGNC ENSG00000165915 73 0 0 41 3 6.81818 C1QTNF4 0 genome.wustl.edu 37 11 47611586 47611586 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 47611586 47611586 G A SNP C1QTNF4 ENST00000302514 human ensembl 74_37 -1 known silent c.777 p.Y259 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,prints_C1q,pfscan_C1q - no_errors C1QTNF4 HGNC ENSG00000172247 50 0 0 26 3 10.3448 PTPRJ 0 genome.wustl.edu 37 11 48177365 48177365 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 48177365 48177365 G A SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.3242 p.R1081H 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,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,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 42 0 0 34 3 8.10811 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 19 0 0 34 9 20.9302 OR52D1 0 genome.wustl.edu 37 11 5510803 5510803 + Silent SNP T T A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 5510803 5510803 T A SNP OR52D1 ENST00000322641 human ensembl 74_37 +1 known silent c.867 p.P289 0.136 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52D1 HGNC ENSG00000181609 51 0 0 45 11 19.6429 OR4C16 0 genome.wustl.edu 37 11 55340006 55340006 + Missense_Mutation SNP A A T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 55340006 55340006 A T SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known missense c.403 p.S135C 0.130 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 OR4C16 HGNC ENSG00000181935 137 0 0 123 17 12.1429 OR4C6 0 genome.wustl.edu 37 11 55433006 55433006 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 55433006 55433006 G A SNP OR4C6 ENST00000314259 human ensembl 74_37 +1 known missense c.364 p.V122M 0.936 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 OR4C6 HGNC ENSG00000181903 53 0 0 63 12 16 OR5D13 0 genome.wustl.edu 37 11 55541274 55541274 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 55541274 55541274 G A SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.361 p.A121T 1.000 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 OR5D13 HGNC ENSG00000198877 111 0 0 166 12 6.74157 OR5M11 0 genome.wustl.edu 37 11 56310561 56310561 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 56310561 56310561 G T SNP OR5M11 ENST00000528616 human ensembl 74_37 -1 known missense c.173 p.P58H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M11 HGNC ENSG00000255223 113 0 0 97 6 5.82524 FEN1 0 genome.wustl.edu 37 11 61563792 61563792 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 61563792 61563792 G A SNP FEN1 ENST00000305885 human ensembl 74_37 +1 known missense c.959 p.R320Q 0.998 superfamily_5-3_exonuclease_C pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors FEN1 HGNC ENSG00000168496 38 0 0 29 5 14.7059 CDHR5 0 genome.wustl.edu 37 11 618676 618676 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 618676 618676 G T SNP CDHR5 ENST00000358353 human ensembl 74_37 -1 known missense c.1883 p.P628H 0.000 NULL superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC ENSG00000099834 149 0 0 91 28 23.5294 GANAB 0 genome.wustl.edu 37 11 62397116 62397116 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 62397116 62397116 C T SNP GANAB ENST00000346178 human ensembl 74_37 -1 known missense c.1844 p.G615D 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANAB HGNC ENSG00000089597 46 0 0 35 3 7.89474 INTS5 0 genome.wustl.edu 37 11 62416160 62416160 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 62416160 62416160 C T SNP INTS5 ENST00000330574 human ensembl 74_37 -1 known silent c.1392 p.P464 0.941 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 123 0 0 73 17 18.8889 NXF1 0 genome.wustl.edu 37 11 62569046 62569046 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 62569046 62569046 G A SNP NXF1 ENST00000294172 human ensembl 74_37 -1 known missense c.697 p.R233C 1.000 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC ENSG00000162231 107 0 0 64 15 18.9873 EHBP1L1 0 genome.wustl.edu 37 11 65357965 65357965 + Silent SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 65357965 65357965 T C SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known silent c.4185 p.G1395 0.975 pfam_DUF3585 pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 24 0 0 22 3 12 ADRBK1 0 genome.wustl.edu 37 11 67052799 67052799 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 67052799 67052799 G A SNP ADRBK1 ENST00000308595 human ensembl 74_37 +1 known missense c.1948 p.A650T 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 54 0 0 36 3 7.69231 OR2AG2 0 genome.wustl.edu 37 11 6789969 6789969 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 6789969 6789969 T C SNP OR2AG2 ENST00000338569 human ensembl 74_37 -1 known missense c.220 p.T74A 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AG2 HGNC ENSG00000188124 128 0 0 69 8 10.3896 FGF19 0 genome.wustl.edu 37 11 69514175 69514175 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 69514175 69514175 A G SNP FGF19 ENST00000294312 human ensembl 74_37 -1 known missense c.506 p.L169P 0.999 superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF19 HGNC ENSG00000162344 182 0 0 113 21 15.6716 RBMXL2 0 genome.wustl.edu 37 11 7111134 7111134 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 7111134 7111134 C T SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known silent c.783 p.D261 0.995 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 28 0 0 28 3 9.67742 INPPL1 0 genome.wustl.edu 37 11 71946233 71946233 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 71946233 71946233 G A SNP INPPL1 ENST00000298229 human ensembl 74_37 +1 known missense c.2489 p.G830D 1.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 71 0 0 42 5 10.6383 MOGAT2 0 genome.wustl.edu 37 11 75438523 75438523 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 75438523 75438523 C T SNP MOGAT2 ENST00000198801 human ensembl 74_37 +1 known missense c.314 p.A105V 0.189 pfam_DAGAT pfam_DAGAT - no_errors MOGAT2 HGNC ENSG00000166391 70 0 0 49 6 10.9091 PRKRIR 0 genome.wustl.edu 37 11 76062335 76062335 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 76062335 76062335 G A SNP PRKRIR ENST00000260045 human ensembl 74_37 -1 known missense c.1859 p.S620L 0.227 superfamily_RNaseH-like_dom pfam_Znf_C2CH,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors PRKRIR HGNC ENSG00000137492 209 2 0.947867 112 14 11.1111 CAPN5 0 genome.wustl.edu 37 11 76826541 76826541 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 76826541 76826541 G A SNP CAPN5 ENST00000278559 human ensembl 74_37 +1 known missense c.800 p.G267D 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN5 HGNC ENSG00000149260 51 0 0 26 6 18.75 CEND1 0 genome.wustl.edu 37 11 788350 788350 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 788350 788350 C A SNP CEND1 ENST00000330106 human ensembl 74_37 -1 known missense c.227 p.S76I 1.000 NULL NULL - no_errors CEND1 HGNC ENSG00000184524 86 0 0 41 4 8.88889 PRCP 0 genome.wustl.edu 37 11 82550461 82550461 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 82550461 82550461 A G SNP PRCP ENST00000393399 human ensembl 74_37 -1 known missense c.991 p.C331R 0.998 pfam_Peptidase_S28 pfam_Peptidase_S28 - no_errors PRCP HGNC ENSG00000137509 67 0 0 51 3 5.55556 TYR 0 genome.wustl.edu 37 11 88961040 88961040 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 88961040 88961040 G A SNP TYR ENST00000263321 human ensembl 74_37 +1 known missense c.1086 p.M362I 1.000 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 47 0 0 82 7 7.86517 SCUBE2 0 genome.wustl.edu 37 11 9090969 9090969 + Silent SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 9090969 9090969 G T SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known silent c.591 p.A197 1.000 smart_EG-like_dom pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 117 0 0 87 5 5.43478 SBF2 0 genome.wustl.edu 37 11 9838486 9838486 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 9838486 9838486 C A SNP SBF2 ENST00000256190 human ensembl 74_37 -1 known missense c.3879 p.K1293N 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 46 0 0 32 5 13.5135 UHRF1BP1L 0 genome.wustl.edu 37 12 100453818 100453818 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 100453818 100453818 G T SNP UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known missense c.1553 p.P518Q 1.000 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 41 0 0 36 4 10 BTBD11 0 genome.wustl.edu 37 12 107712874 107712874 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 107712874 107712874 C T SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.157 p.P53S 1.000 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 18 0 0 11 3 21.4286 DAO 0 genome.wustl.edu 37 12 109292531 109292531 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 109292531 109292531 A G SNP DAO ENST00000228476 human ensembl 74_37 +1 known missense c.772 p.T258A 0.618 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DAO HGNC ENSG00000110887 67 0 0 29 3 9.375 KDM2B 0 genome.wustl.edu 37 12 121868159 121868159 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 121868159 121868159 T C SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known missense c.3943 p.I1315V 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 138 0 0 93 16 14.6789 ULK1 0 genome.wustl.edu 37 12 132401542 132401542 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 132401542 132401542 C T SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.2117 p.A706V 0.894 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 63 0 0 38 4 9.52381 POLE 0 genome.wustl.edu 37 12 133220551 133220551 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 133220551 133220551 G T SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.4162 p.L1388I 1.000 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 90 0 0 58 11 15.942 ANKLE2 0 genome.wustl.edu 37 12 133324589 133324589 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 133324589 133324589 G A SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known silent c.1059 p.N353 0.815 superfamily_Ankyrin_rpt-contain_dom pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 61 0 0 37 5 11.9048 ABCC9 0 genome.wustl.edu 37 12 22065846 22065846 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 22065846 22065846 C T SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.971 p.R324H 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 37 0 0 60 12 16.6667 TMTC1 0 genome.wustl.edu 37 12 29709910 29709910 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 29709910 29709910 G A SNP TMTC1 ENST00000256062 human ensembl 74_37 -1 known missense c.1232 p.A411V 1.000 pfam_PIK-rel_kinase_FAT,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 53 0 0 67 6 8.21918 SYT10 0 genome.wustl.edu 37 12 33532788 33532788 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 33532788 33532788 C T SNP SYT10 ENST00000228567 human ensembl 74_37 -1 known silent c.1479 p.T493 0.964 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 108 1 0.917431 123 10 7.5188 C12orf5 0 genome.wustl.edu 37 12 4446292 4446292 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 4446292 4446292 A G SNP C12orf5 ENST00000179259 human ensembl 74_37 +1 known missense c.158 p.H53R 0.997 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 - no_errors C12orf5 HGNC ENSG00000078237 58 0 0 40 3 6.97674 SCAF11 0 genome.wustl.edu 37 12 46316903 46316903 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 46316903 46316903 A G SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known missense c.3941 p.M1314T 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 96 0 0 81 10 10.989 LMBR1L 0 genome.wustl.edu 37 12 49497522 49497522 + Nonsense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 49497522 49497522 C T SNP LMBR1L ENST00000267102 human ensembl 74_37 -1 known nonsense c.510 p.W170* 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt - no_errors LMBR1L HGNC ENSG00000139636 243 0 0 132 14 9.58904 GPD1 0 genome.wustl.edu 37 12 50501571 50501571 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 50501571 50501571 G A SNP GPD1 ENST00000301149 human ensembl 74_37 +1 known silent c.834 p.A278 0.027 pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk pfam_G3P_DH_NAD-dep_N,pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk - no_errors GPD1 HGNC ENSG00000167588 106 0 0 50 5 9.09091 KCNA5 0 genome.wustl.edu 37 12 5154130 5154130 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 5154130 5154130 C T SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.817 p.P273S 1.000 prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 175 0 0 89 13 12.7451 KRT73 0 genome.wustl.edu 37 12 53012125 53012125 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 53012125 53012125 C T SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known missense c.184 p.A62T 0.008 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 162 0 0 110 8 6.77966 KRT4 0 genome.wustl.edu 37 12 53207645 53207645 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 53207645 53207645 A G SNP KRT4 ENST00000293774 human ensembl 74_37 -1 known silent c.420 p.A140 0.210 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT4 HGNC ENSG00000170477 226 0 0 148 13 8.07453 KRT79 0 genome.wustl.edu 37 12 53216893 53216893 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 53216893 53216893 A G SNP KRT79 ENST00000330553 human ensembl 74_37 -1 known missense c.1274 p.L425P 1.000 pfam_IF pfam_IF,superfamily_STAT_TF_coiled-coil,prints_Keratin_II - no_errors KRT79 HGNC ENSG00000185640 88 0 0 71 4 5.33333 SOAT2 0 genome.wustl.edu 37 12 53514608 53514608 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 53514608 53514608 C T SNP SOAT2 ENST00000301466 human ensembl 74_37 +1 known missense c.1078 p.H360Y 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors SOAT2 HGNC ENSG00000167780 93 0 0 79 8 9.1954 ESYT1 0 genome.wustl.edu 37 12 56526118 56526118 + Splice_Site SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 56526118 56526118 T C SNP ESYT1 ENST00000267113 human ensembl 74_37 +1 known splice_site c.984+2 e8+2 1.000 - - - no_errors ESYT1 HGNC ENSG00000139641 112 0 0 71 10 12.3457 NACA 0 genome.wustl.edu 37 12 57111683 57111683 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 57111683 57111683 T C SNP NACA ENST00000454682 human ensembl 74_37 -1 known missense c.3631 p.T1211A 0.002 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 125 0 0 106 7 6.19469 GPR162 0 genome.wustl.edu 37 12 6933431 6933431 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 6933431 6933431 G A SNP GPR162 ENST00000311268 human ensembl 74_37 +1 known missense c.367 p.V123I 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR162,prints_GCR_153/162 - no_errors GPR162 HGNC ENSG00000250510 103 0 0 63 4 5.97015 CLSTN3 0 genome.wustl.edu 37 12 7290621 7290621 + Silent SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 7290621 7290621 T C SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known silent c.1281 p.L427 0.495 superfamily_ConA-like_lec_gl_sf pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 54 0 0 39 4 9.30233 TMTC4 0 genome.wustl.edu 37 13 101277794 101277794 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 13 101277794 101277794 G A SNP TMTC4 ENST00000342624 human ensembl 74_37 -1 known missense c.1831 p.R611C 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 90 0 0 54 8 12.9032 NALCN 0 genome.wustl.edu 37 13 101936304 101936304 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 13 101936304 101936304 G A SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.1114 p.R372C 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 36 0 0 21 3 12.5 LIG4 0 genome.wustl.edu 37 13 108861173 108861173 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 13 108861173 108861173 C T SNP LIG4 ENST00000356922 human ensembl 74_37 -1 known missense c.2444 p.R815H 0.016 smart_BRCT_dom,pfscan_BRCT_dom pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 50 0 0 59 5 7.8125 TMEM255B 0 genome.wustl.edu 37 13 114498133 114498133 + Missense_Mutation SNP A A T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 13 114498133 114498133 A T SNP TMEM255B ENST00000375353 human ensembl 74_37 +1 known missense c.265 p.I89F 0.998 NULL NULL - no_errors TMEM255B HGNC ENSG00000184497 60 0 0 17 9 34.6154 PSPC1 0 genome.wustl.edu 37 13 20304416 20304416 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 13 20304416 20304416 C T SNP PSPC1 ENST00000338910 human ensembl 74_37 -1 known missense c.1121 p.R374Q 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 190 0 0 200 23 10.3139 CSNK1A1L 0 genome.wustl.edu 37 13 37679009 37679009 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 13 37679009 37679009 T C SNP CSNK1A1L ENST00000379800 human ensembl 74_37 -1 known missense c.385 p.T129A 1.000 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1A1L HGNC ENSG00000180138 138 0 0 106 11 9.40171 SLITRK5 0 genome.wustl.edu 37 13 88328996 88328996 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 13 88328996 88328996 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.1353 p.R451 0.995 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 39 0 0 44 6 12 RCOR1 0 genome.wustl.edu 37 14 103180949 103180949 + Nonsense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 14 103180949 103180949 C T SNP RCOR1 ENST00000262241 human ensembl 74_37 +1 known nonsense c.1048 p.R350* 0.998 NULL pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom,prints_Antifreeze_1 - no_errors RCOR1 HGNC ENSG00000089902 34 0 0 31 5 13.8889 PPP1R13B 0 genome.wustl.edu 37 14 104206331 104206331 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 14 104206331 104206331 G T SNP PPP1R13B ENST00000202556 human ensembl 74_37 -1 known missense c.2422 p.Q808K 0.850 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 59 0 0 53 4 7.01754 TDRD9 0 genome.wustl.edu 37 14 104481129 104481129 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 14 104481129 104481129 G A SNP TDRD9 ENST00000409874 human ensembl 74_37 +1 known missense c.2174 p.R725Q 0.005 NULL pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TDRD9 HGNC ENSG00000156414 68 0 0 64 5 7.24638 AHNAK2 0 genome.wustl.edu 37 14 105413093 105413093 + Missense_Mutation SNP C C G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 14 105413093 105413093 C G SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.8695 p.V2899L 0.881 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 357 0 0 241 18 6.94981 RABGGTA 0 genome.wustl.edu 37 14 24737770 24737770 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 14 24737770 24737770 C T SNP RABGGTA ENST00000216840 human ensembl 74_37 -1 known missense c.956 p.R319H 0.998 pfam_RabGGT_asu_insert-domain,superfamily_RabGGT_asu_insert-domain pfam_Prenyl_trans_a,pfam_RabGGT_asu_insert-domain,pfam_Leu-rich_rpt,superfamily_RabGGT_asu_insert-domain,pfscan_Prenyl_trans_a - no_errors RABGGTA HGNC ENSG00000100949 123 0 0 65 4 5.7971 BAZ1A 0 genome.wustl.edu 37 14 35231352 35231352 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 14 35231352 35231352 C T SNP BAZ1A ENST00000360310 human ensembl 74_37 -1 known missense c.3854 p.R1285H 0.995 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 141 0 0 126 7 5.26316 CLEC14A 0 genome.wustl.edu 37 14 38724284 38724284 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 14 38724284 38724284 G A SNP CLEC14A ENST00000342213 human ensembl 74_37 -1 known missense c.944 p.P315L 0.000 NULL superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC ENSG00000176435 103 0 0 90 8 8.16327 KLHL28 0 genome.wustl.edu 37 14 45414684 45414684 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 14 45414684 45414684 G A SNP KLHL28 ENST00000396128 human ensembl 74_37 -1 known missense c.448 p.R150C 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL28 HGNC ENSG00000179454 68 0 0 82 5 5.74713 MDGA2 0 genome.wustl.edu 37 14 47504254 47504254 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 14 47504254 47504254 G A SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known silent c.1779 p.N593 0.982 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 102 0 0 121 14 10.3704 ATL1 0 genome.wustl.edu 37 14 51087357 51087357 + Missense_Mutation SNP T T G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 14 51087357 51087357 T G SNP ATL1 ENST00000357032 human ensembl 74_37 +1 known missense c.903 p.I301M 1.000 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_P-loop_NTPase,superfamily_Guanylate-bd_C - no_errors ATL1 HGNC ENSG00000198513 54 0 0 56 4 6.66667 DDHD1 0 genome.wustl.edu 37 14 53558555 53558555 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 14 53558555 53558555 G A SNP DDHD1 ENST00000323669 human ensembl 74_37 -1 known missense c.1237 p.H413Y 1.000 NULL pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC ENSG00000100523 70 0 0 93 10 9.70874 SPTB 0 genome.wustl.edu 37 14 65262292 65262292 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 14 65262292 65262292 G A SNP SPTB ENST00000389722 human ensembl 74_37 -1 known silent c.1407 p.T469 0.003 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 82 0 0 41 7 14.5833 ACOT6 0 genome.wustl.edu 37 14 74086200 74086200 + Missense_Mutation SNP T T G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 14 74086200 74086200 T G SNP ACOT6 ENST00000381139 human ensembl 74_37 +1 known missense c.281 p.L94R 0.910 pfam_BAAT_C,pfam_Serine_hydrolase_FSH pfam_BAAT_C,pfam_Serine_hydrolase_FSH - no_errors ACOT6 HGNC ENSG00000205669 109 0 0 87 13 13 SYNDIG1L 0 genome.wustl.edu 37 14 74874690 74874690 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 14 74874690 74874690 G A SNP SYNDIG1L ENST00000331628 human ensembl 74_37 -1 known silent c.420 p.S140 0.881 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1L HGNC ENSG00000183379 34 0 0 20 4 16.6667 NEK9 0 genome.wustl.edu 37 14 75562092 75562092 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 14 75562092 75562092 C T SNP NEK9 ENST00000238616 human ensembl 74_37 -1 known missense c.2216 p.G739D 1.000 NULL pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_RCC1/BLIP-II,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC ENSG00000119638 46 0 0 43 6 12.2449 EML5 0 genome.wustl.edu 37 14 89088957 89088957 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 14 89088957 89088957 G A SNP EML5 ENST00000554922 human ensembl 74_37 -1 known silent c.5004 p.C1668 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 57 0 0 70 6 7.89474 LGMN 0 genome.wustl.edu 37 14 93176079 93176079 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 14 93176079 93176079 T C SNP LGMN ENST00000334869 human ensembl 74_37 -1 known missense c.958 p.M320V 1.000 NULL pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors LGMN HGNC ENSG00000100600 139 0 0 109 6 5.21739 ZNF770 0 genome.wustl.edu 37 15 35273959 35273959 + Silent SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 35273959 35273959 T C SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known silent c.1677 p.Q559 0.991 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 181 0 0 139 29 17.2619 FSIP1 0 genome.wustl.edu 37 15 40005706 40005706 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 40005706 40005706 C T SNP FSIP1 ENST00000350221 human ensembl 74_37 -1 known missense c.1127 p.R376H 0.913 NULL NULL - no_errors FSIP1 HGNC ENSG00000150667 222 0 0 167 9 5.11364 PAK6 0 genome.wustl.edu 37 15 40565133 40565133 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 40565133 40565133 G A SNP PAK6 ENST00000260404 human ensembl 74_37 +1 known missense c.1423 p.E475K 1.000 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_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK6 HGNC ENSG00000137843 185 1 0.537634 114 11 8.8 VPS18 0 genome.wustl.edu 37 15 41192775 41192775 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 41192775 41192775 G A SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known missense c.1759 p.A587T 0.402 superfamily_ARM-type_fold pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 133 1 0.746269 81 10 10.989 MGA 0 genome.wustl.edu 37 15 41961400 41961400 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 41961400 41961400 G A SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.308 p.R103H 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 155 0 0 123 13 9.55882 ZNF106 0 genome.wustl.edu 37 15 42749327 42749327 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 42749327 42749327 C A SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.77 p.G26V 1.000 smart_Znf_C2H2-like pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 28 0 0 25 5 16.6667 SPG11 0 genome.wustl.edu 37 15 44888503 44888503 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 44888503 44888503 C T SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known silent c.4212 p.R1404 0.090 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 82 0 0 48 3 5.88235 MYO1E 0 genome.wustl.edu 37 15 59553620 59553620 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 59553620 59553620 G A SNP MYO1E ENST00000288235 human ensembl 74_37 -1 known missense c.236 p.A79V 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1E HGNC ENSG00000157483 102 1 0.970874 72 16 18.1818 VPS13C 0 genome.wustl.edu 37 15 62165561 62165561 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 62165561 62165561 C A SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.10462 p.G3488C 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 61 0 0 118 12 9.23077 TLN2 0 genome.wustl.edu 37 15 63029196 63029196 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 63029196 63029196 G A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.3478 p.V1160M 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 56 0 0 20 4 16.6667 HCN4 0 genome.wustl.edu 37 15 73615926 73615926 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 73615926 73615926 C T SNP HCN4 ENST00000261917 human ensembl 74_37 -1 known silent c.2508 p.A836 0.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 87 0 0 53 4 7.01754 CYP1A1 0 genome.wustl.edu 37 15 75013992 75013992 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 75013992 75013992 C T SNP CYP1A1 ENST00000379727 human ensembl 74_37 -1 known missense c.892 p.A298T 0.998 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A1 HGNC ENSG00000140465 81 0 0 49 6 10.9091 LINGO1 0 genome.wustl.edu 37 15 77906539 77906539 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 77906539 77906539 G A SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known silent c.1710 p.G570 0.959 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 110 0 0 59 5 7.8125 LINC00933 0 genome.wustl.edu 37 15 85121256 85121256 + RNA SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 85121256 85121256 C T SNP LINC00933 ENST00000557887 human ensembl 74_37 +1 known rna NULL NULL 0.929 - - - no_errors LINC00933 HGNC ENSG00000259728 74 0 0 53 5 8.62069 GDPGP1 0 genome.wustl.edu 37 15 90784210 90784210 + Nonsense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 90784210 90784210 C T SNP GDPGP1 ENST00000329600 human ensembl 74_37 +1 known nonsense c.70 p.Q24* 0.003 NULL NULL - no_errors GDPGP1 HGNC ENSG00000183208 229 0 0 144 14 8.86076 GDPGP1 0 genome.wustl.edu 37 15 90784375 90784375 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 90784375 90784375 C T SNP GDPGP1 ENST00000329600 human ensembl 74_37 +1 known missense c.235 p.R79C 0.501 NULL NULL - no_errors GDPGP1 HGNC ENSG00000183208 172 0 0 105 13 11.0169 CHD2 0 genome.wustl.edu 37 15 93563304 93563304 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 93563304 93563304 T C SNP CHD2 ENST00000557381 human ensembl 74_37 +1 putative missense c.4969 p.W1657R 0.998 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 49 0 0 42 5 10.6383 TNP2 0 genome.wustl.edu 37 16 11362892 11362892 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 11362892 11362892 A G SNP TNP2 ENST00000312693 human ensembl 74_37 -1 known silent c.228 p.S76 0.002 pfam_TP2 pfam_TP2 - no_errors TNP2 HGNC ENSG00000178279 157 0 0 93 8 7.92079 SNX29 0 genome.wustl.edu 37 16 12662446 12662446 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 12662446 12662446 G A SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known missense c.1247 p.R416Q 0.984 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 48 0 0 30 3 9.09091 ACSM5 0 genome.wustl.edu 37 16 20439171 20439171 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 20439171 20439171 T C SNP ACSM5 ENST00000331849 human ensembl 74_37 +1 known missense c.983 p.V328A 0.997 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ENSG00000183549 178 0 0 163 12 6.85714 TSC2 0 genome.wustl.edu 37 16 2138301 2138301 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 2138301 2138301 G A SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known missense c.5234 p.R1745H 1.000 pfscan_Rap_GAP_dom pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 160 0 0 71 14 16.4706 TRAF7 0 genome.wustl.edu 37 16 2226331 2226331 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 2226331 2226331 G A SNP TRAF7 ENST00000326181 human ensembl 74_37 +1 known silent c.1944 p.A648 0.006 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 22 0 0 18 3 14.2857 RBBP6 0 genome.wustl.edu 37 16 24567183 24567183 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 24567183 24567183 C T SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.479 p.T160M 1.000 pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC 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 55 0 0 52 4 7.14286 SRRM2 0 genome.wustl.edu 37 16 2819193 2819193 + Silent SNP C C G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 2819193 2819193 C G SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known silent c.7929 p.S2643 0.933 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 97 0 0 73 4 5.19481 ATP2A1 0 genome.wustl.edu 37 16 28914189 28914189 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 28914189 28914189 C A SNP ATP2A1 ENST00000357084 human ensembl 74_37 +1 known missense c.2701 p.L901M 0.999 pfam_ATPase_P-typ_cation-transptr_C pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A1 HGNC ENSG00000196296 50 0 0 21 5 19.2308 PRRT2 0 genome.wustl.edu 37 16 29825697 29825697 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 29825697 29825697 G A SNP PRRT2 ENST00000567659 human ensembl 74_37 +1 known missense c.923 p.R308H 1.000 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 153 0 0 111 9 7.5 KREMEN2 0 genome.wustl.edu 37 16 3016424 3016424 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 3016424 3016424 C T SNP KREMEN2 ENST00000303746 human ensembl 74_37 +1 known missense c.460 p.R154C 1.000 pirsf_Kremen,pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pirsf_Kremen,pfam_WSC_carb-bd,pfam_Kringle,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN2 HGNC ENSG00000131650 82 0 0 65 4 5.7971 ZNF48 0 genome.wustl.edu 37 16 30410095 30410095 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 30410095 30410095 A G SNP ZNF48 ENST00000320159 human ensembl 74_37 +1 known silent c.1524 p.P508 0.057 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 157 0 0 78 20 20.4082 ZNF629 0 genome.wustl.edu 37 16 30793647 30793647 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 30793647 30793647 C T SNP ZNF629 ENST00000262525 human ensembl 74_37 -1 known missense c.2002 p.G668R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF629 HGNC ENSG00000102870 16 0 0 8 3 27.2727 ITGAX 0 genome.wustl.edu 37 16 31382513 31382513 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 31382513 31382513 C T SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known missense c.1819 p.R607W 0.461 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 97 0 0 63 6 8.69565 ZNF205 0 genome.wustl.edu 37 16 3165484 3165484 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 3165484 3165484 G A SNP ZNF205 ENST00000219091 human ensembl 74_37 +1 known silent c.186 p.S62 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF205 HGNC ENSG00000122386 76 0 0 39 4 9.30233 ADCY7 0 genome.wustl.edu 37 16 50332892 50332892 + Silent SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 50332892 50332892 C A SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known silent c.1026 p.T342 0.043 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 100 0 0 56 4 6.66667 CETP 0 genome.wustl.edu 37 16 56995902 56995902 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 56995902 56995902 C T SNP CETP ENST00000200676 human ensembl 74_37 +1 known missense c.11 p.A4V 0.000 pirsf_Cholesteryl_ester_transfer pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer - no_errors CETP HGNC ENSG00000087237 57 0 0 34 3 8.10811 CES2 0 genome.wustl.edu 37 16 66975082 66975082 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 66975082 66975082 G A SNP CES2 ENST00000317091 human ensembl 74_37 +1 known missense c.1064 p.C355Y 0.998 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES2 HGNC ENSG00000172831 69 0 0 38 6 13.6364 C16orf70 0 genome.wustl.edu 37 16 67165190 67165190 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 67165190 67165190 T C SNP C16orf70 ENST00000219139 human ensembl 74_37 +1 known missense c.233 p.V78A 1.000 pfam_UPF0183 pfam_UPF0183 - no_errors C16orf70 HGNC ENSG00000125149 82 0 0 41 6 12.766 NFAT5 0 genome.wustl.edu 37 16 69727814 69727814 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 69727814 69727814 G A SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known silent c.4086 p.S1362 0.996 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 82 0 0 64 10 13.5135 FUK 0 genome.wustl.edu 37 16 70497629 70497629 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 70497629 70497629 C T SNP FUK ENST00000378912 human ensembl 74_37 +1 known silent c.186 p.N62 0.942 NULL pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 39 0 0 31 3 8.82353 ZNF19 0 genome.wustl.edu 37 16 71509154 71509154 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 71509154 71509154 C T SNP ZNF19 ENST00000288177 human ensembl 74_37 -1 known silent c.1296 p.E432 0.003 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 ZNF19 HGNC ENSG00000157429 37 0 0 29 5 14.7059 BCAR1 0 genome.wustl.edu 37 16 75263597 75263597 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 75263597 75263597 G A SNP BCAR1 ENST00000418647 human ensembl 74_37 -1 known missense c.2563 p.R855C 1.000 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC ENSG00000050820 61 0 0 38 3 7.31707 KARS 0 genome.wustl.edu 37 16 75665396 75665396 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 75665396 75665396 G A SNP KARS ENST00000319410 human ensembl 74_37 -1 known silent c.1254 p.P418 0.959 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Lys-tRNA-ligase_II pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Lys-tRNA-synth_II_C,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Lys-tRNA-ligase_II - no_errors KARS HGNC ENSG00000065427 103 0 0 64 17 20.9877 ATMIN 0 genome.wustl.edu 37 16 81077164 81077164 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 81077164 81077164 G A SNP ATMIN ENST00000299575 human ensembl 74_37 +1 known missense c.1061 p.G354D 0.159 NULL smart_Znf_C2H2-like - no_errors ATMIN HGNC ENSG00000166454 102 0 0 79 6 7.05882 PLCG2 0 genome.wustl.edu 37 16 81962215 81962215 + Missense_Mutation SNP A A C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 81962215 81962215 A C SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known missense c.2567 p.N856T 0.899 superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SH3_domain,smart_Pleckstrin_homology,pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 150 0 0 106 11 9.40171 FOXC2 0 genome.wustl.edu 37 16 86601058 86601058 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 86601058 86601058 C T SNP FOXC2 ENST00000320354 human ensembl 74_37 +1 known silent c.117 p.G39 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC2 HGNC ENSG00000176692 55 0 0 38 3 7.31707 SNAI3 0 genome.wustl.edu 37 16 88747938 88747938 + Silent SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 88747938 88747938 G T SNP SNAI3 ENST00000332281 human ensembl 74_37 -1 known silent c.261 p.A87 0.576 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI3 HGNC ENSG00000185669 66 0 0 41 5 10.8696 MC1R 0 genome.wustl.edu 37 16 89986083 89986083 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 89986083 89986083 C T SNP MC1R ENST00000555147 human ensembl 74_37 +1 known silent c.417 p.A139 0.655 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_MSH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC1R HGNC ENSG00000258839 124 0 0 73 7 8.75 MYH4 0 genome.wustl.edu 37 17 10358320 10358320 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 10358320 10358320 G A SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known silent c.2373 p.R791 0.847 superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 63 0 0 57 5 8.06452 DNAH9 0 genome.wustl.edu 37 17 11540071 11540071 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 11540071 11540071 A G SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.1756 p.S586G 0.606 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 90 0 0 73 5 6.41026 ZNF287 0 genome.wustl.edu 37 17 16455518 16455518 + Silent SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 16455518 16455518 T C SNP ZNF287 ENST00000395824 human ensembl 74_37 -1 known silent c.1938 p.K646 0.979 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF287 HGNC ENSG00000141040 53 0 0 51 6 10.5263 FLCN 0 genome.wustl.edu 37 17 17124808 17124808 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 17124808 17124808 G A SNP FLCN ENST00000389169 human ensembl 74_37 -1 known missense c.914 p.P305L 0.000 NULL pfam_Folliculin - no_errors FLCN HGNC ENSG00000154803 81 0 0 46 7 13.2075 NT5M 0 genome.wustl.edu 37 17 17250222 17250222 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 17250222 17250222 C T SNP NT5M ENST00000389022 human ensembl 74_37 +1 known silent c.648 p.D216 0.980 pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom - no_errors NT5M HGNC ENSG00000205309 62 0 0 48 8 14.2857 MYO15A 0 genome.wustl.edu 37 17 18022483 18022483 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 18022483 18022483 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known silent c.369 p.R123 0.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 33 0 0 28 8 22.2222 ALDH3A1 0 genome.wustl.edu 37 17 19646611 19646611 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 19646611 19646611 C T SNP ALDH3A1 ENST00000225740 human ensembl 74_37 -1 known missense c.328 p.V110I 0.925 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A1 HGNC ENSG00000108602 90 0 0 54 5 8.47458 SPECC1 0 genome.wustl.edu 37 17 20108104 20108104 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 20108104 20108104 C T SNP SPECC1 ENST00000261503 human ensembl 74_37 +1 known missense c.742 p.R248W 0.852 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 205 1 0.485437 163 10 5.78035 PROCA1 0 genome.wustl.edu 37 17 27031396 27031396 + Silent SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 27031396 27031396 G T SNP PROCA1 ENST00000439862 human ensembl 74_37 -1 known silent c.291 p.S97 1.000 pfam_PLipase_A2,superfamily_PLipase_A2_dom pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PROCA1 HGNC ENSG00000167525 257 0 0 173 17 8.94737 SSH2 0 genome.wustl.edu 37 17 27994186 27994186 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 27994186 27994186 T C SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.784 p.M262V 1.000 pfam_DEK_C pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 83 0 0 50 5 9.09091 MYO1D 0 genome.wustl.edu 37 17 30821881 30821881 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 30821881 30821881 G A SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known missense c.2917 p.H973Y 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 45 0 0 21 3 12.5 ASIC2 0 genome.wustl.edu 37 17 31618506 31618506 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 31618506 31618506 G A SNP ASIC2 ENST00000225823 human ensembl 74_37 -1 known missense c.628 p.R210C 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 49 0 0 40 3 6.97674 SLC35G3 0 genome.wustl.edu 37 17 33520940 33520940 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 33520940 33520940 G A SNP SLC35G3 ENST00000297307 human ensembl 74_37 -1 known silent c.387 p.N129 1.000 pfam_DMT pfam_DMT - no_errors SLC35G3 HGNC ENSG00000164729 213 0 0 157 13 7.64706 ACACA 0 genome.wustl.edu 37 17 35538197 35538197 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 35538197 35538197 T C SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.4877 p.Q1626R 1.000 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 125 0 0 108 10 8.47458 PIP4K2B 0 genome.wustl.edu 37 17 36927291 36927291 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 36927291 36927291 C T SNP PIP4K2B ENST00000269554 human ensembl 74_37 -1 known missense c.1042 p.V348I 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2B HGNC ENSG00000141720 66 0 0 50 6 10.7143 ATP2A3 0 genome.wustl.edu 37 17 3840883 3840883 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 3840883 3840883 G A SNP ATP2A3 ENST00000359983 human ensembl 74_37 -1 known silent c.2148 p.I716 0.723 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A3 HGNC ENSG00000074370 40 0 0 27 2 6.89655 TOP2A 0 genome.wustl.edu 37 17 38556278 38556278 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 38556278 38556278 C T SNP TOP2A ENST00000423485 human ensembl 74_37 -1 known silent c.3042 p.T1014 0.197 pfam_Topo_IIA_A/C,superfamily_Topo_IIA_like_dom,smart_Topo_IIA_A/C,prints_TopoII_euk pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 26 0 0 32 2 5.88235 KRTAP3-2 0 genome.wustl.edu 37 17 39155890 39155890 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 39155890 39155890 C T SNP KRTAP3-2 ENST00000391587 human ensembl 74_37 -1 known silent c.216 p.Q72 0.992 pfam_Keratin_matx pfam_Keratin_matx - no_errors KRTAP3-2 HGNC ENSG00000212900 68 0 0 53 11 17.1875 LOC100505782 0 genome.wustl.edu 37 17 39580159 39580159 + RNA SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 39580159 39580159 G A SNP LOC100505782 ENST00000432258 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC003958.2 Clone_based_vega_gene ENSG00000234859 49 0 0 22 4 15.3846 KRT13 0 genome.wustl.edu 37 17 39659000 39659000 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 39659000 39659000 A G SNP KRT13 ENST00000246635 human ensembl 74_37 -1 known missense c.962 p.I321T 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT13 HGNC ENSG00000171401 250 0 0 176 28 13.7255 CNP 0 genome.wustl.edu 37 17 40120334 40120334 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 40120334 40120334 C T SNP CNP ENST00000393892 human ensembl 74_37 +1 known silent c.252 p.D84 0.004 pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,pirsf_CNPase pfam_CNPase,pfam_Zeta_toxin_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,superfamily_P-loop_NTPase,pirsf_CNPase - no_errors CNP HGNC ENSG00000173786 40 0 0 26 4 13.3333 PLEKHH3 0 genome.wustl.edu 37 17 40822661 40822661 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 40822661 40822661 C T SNP PLEKHH3 ENST00000591022 human ensembl 74_37 -1 known missense c.1484 p.R495H 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC ENSG00000068137 70 0 0 46 6 11.5385 RUNDC1 0 genome.wustl.edu 37 17 41143406 41143406 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 41143406 41143406 G A SNP RUNDC1 ENST00000361677 human ensembl 74_37 +1 known silent c.1515 p.T505 0.001 pfam_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC1 HGNC ENSG00000198863 72 0 0 50 3 5.66038 GOSR2 0 genome.wustl.edu 37 17 45016106 45016106 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 45016106 45016106 G A SNP GOSR2 ENST00000393456 human ensembl 74_37 +1 known missense c.619 p.V207M 1.000 NULL superfamily_t-SNARE - no_errors GOSR2 HGNC ENSG00000108433 142 0 0 86 8 8.51064 OSBPL7 0 genome.wustl.edu 37 17 45891131 45891131 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 45891131 45891131 C T SNP OSBPL7 ENST00000007414 human ensembl 74_37 -1 known missense c.1421 p.G474E 0.038 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL7 HGNC ENSG00000006025 60 0 0 38 5 11.6279 ZMYND15 0 genome.wustl.edu 37 17 4647738 4647738 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 4647738 4647738 C T SNP ZMYND15 ENST00000433935 human ensembl 74_37 +1 known silent c.1659 p.D553 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND15 HGNC ENSG00000141497 86 0 0 73 5 6.41026 GIP 0 genome.wustl.edu 37 17 47041735 47041735 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 47041735 47041735 A G SNP GIP ENST00000357424 human ensembl 74_37 -1 known missense c.194 p.M65T 1.000 pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors GIP HGNC ENSG00000159224 139 0 0 98 6 5.76923 IGF2BP1 0 genome.wustl.edu 37 17 47115628 47115628 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 47115628 47115628 G A SNP IGF2BP1 ENST00000290341 human ensembl 74_37 +1 known missense c.500 p.R167H 1.000 NULL pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC ENSG00000159217 84 0 0 72 6 7.69231 SMG8 0 genome.wustl.edu 37 17 57287463 57287463 + Nonsense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 57287463 57287463 G A SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known nonsense c.51 p.W17* 0.775 NULL pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 32 0 0 40 3 6.97674 GDPD1 0 genome.wustl.edu 37 17 57334502 57334502 + Missense_Mutation SNP A A C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 57334502 57334502 A C SNP GDPD1 ENST00000284116 human ensembl 74_37 +1 known missense c.387 p.K129N 1.000 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD1 HGNC ENSG00000153982 78 0 0 72 12 14.2857 INTS2 0 genome.wustl.edu 37 17 59989372 59989372 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 59989372 59989372 G A SNP INTS2 ENST00000444766 human ensembl 74_37 -1 known missense c.733 p.R245C 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 197 0 0 152 19 11.1111 TLK2 0 genome.wustl.edu 37 17 60689890 60689890 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 60689890 60689890 A G SNP TLK2 ENST00000326270 human ensembl 74_37 +1 known silent c.2283 p.S761 0.999 superfamily_Kinase-like_dom 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 TLK2 HGNC ENSG00000146872 44 0 0 33 4 10.8108 CACNG1 0 genome.wustl.edu 37 17 65041002 65041002 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 65041002 65041002 G A SNP CACNG1 ENST00000226021 human ensembl 74_37 +1 known missense c.226 p.G76R 0.997 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g1su,prints_VDCC_gsu - no_errors CACNG1 HGNC ENSG00000108878 30 0 0 16 3 15.7895 SLC39A11 0 genome.wustl.edu 37 17 70645064 70645064 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 70645064 70645064 G A SNP SLC39A11 ENST00000542342 human ensembl 74_37 -1 known silent c.828 p.A276 0.191 pfam_ZIP pfam_ZIP - no_errors SLC39A11 HGNC ENSG00000133195 35 0 0 25 3 10.7143 C17orf80 0 genome.wustl.edu 37 17 71232288 71232288 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 71232288 71232288 G A SNP C17orf80 ENST00000359042 human ensembl 74_37 +1 known missense c.667 p.V223M 0.000 NULL NULL - no_errors C17orf80 HGNC ENSG00000141219 96 0 0 77 18 18.9474 CD300LB 0 genome.wustl.edu 37 17 72527553 72527553 + Silent SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 72527553 72527553 T C SNP CD300LB ENST00000392621 human ensembl 74_37 -1 known silent c.48 p.A16 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300LB HGNC ENSG00000178789 62 0 0 42 6 12.5 CHRNB1 0 genome.wustl.edu 37 17 7357799 7357799 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 7357799 7357799 G A SNP CHRNB1 ENST00000306071 human ensembl 74_37 +1 known missense c.1004 p.R335H 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB1 HGNC ENSG00000170175 76 0 0 51 4 7.27273 SRP68 0 genome.wustl.edu 37 17 74042188 74042188 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 74042188 74042188 C T SNP SRP68 ENST00000307877 human ensembl 74_37 -1 known silent c.1230 p.Q410 1.000 NULL NULL - no_errors SRP68 HGNC ENSG00000167881 252 0 0 171 15 8.06452 LGALS3BP 0 genome.wustl.edu 37 17 76968444 76968444 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 76968444 76968444 G A SNP LGALS3BP ENST00000262776 human ensembl 74_37 -1 known silent c.972 p.A324 0.078 pfam_BACK,smart_BACK pfam_SRCR,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_SRCR,prints_SRCR - no_errors LGALS3BP HGNC ENSG00000108679 98 0 0 50 4 7.40741 ENGASE 0 genome.wustl.edu 37 17 77081752 77081752 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 77081752 77081752 G A SNP ENGASE ENST00000579016 human ensembl 74_37 +1 known missense c.1751 p.C584Y 0.000 NULL pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000167280 55 0 0 28 6 17.6471 GAA 0 genome.wustl.edu 37 17 78078703 78078703 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 78078703 78078703 C T SNP GAA ENST00000302262 human ensembl 74_37 +1 known silent c.318 p.R106 0.002 pfam_P_trefoil,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 31 0 0 23 3 11.5385 CNTROB 0 genome.wustl.edu 37 17 7847956 7847956 + Silent SNP A A C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 7847956 7847956 A C SNP CNTROB ENST00000380262 human ensembl 74_37 +1 known silent c.1734 p.P578 0.066 NULL NULL - no_errors CNTROB HGNC ENSG00000170037 83 0 0 44 4 8.33333 ACTG1 0 genome.wustl.edu 37 17 79478090 79478090 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 79478090 79478090 T C SNP ACTG1 ENST00000331925 human ensembl 74_37 -1 known missense c.847 p.M283V 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTG1 HGNC ENSG00000184009 120 0 0 92 5 5.15464 DUS1L 0 genome.wustl.edu 37 17 80019844 80019844 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 80019844 80019844 C T SNP DUS1L ENST00000306796 human ensembl 74_37 -1 known missense c.526 p.G176R 1.000 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase - no_errors DUS1L HGNC ENSG00000169718 100 0 0 77 7 8.33333 FOXK2 0 genome.wustl.edu 37 17 80477947 80477947 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 80477947 80477947 G A SNP FOXK2 ENST00000335255 human ensembl 74_37 +1 known silent c.183 p.S61 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK2 HGNC ENSG00000141568 53 0 0 46 4 8 CDH2 0 genome.wustl.edu 37 18 25573538 25573538 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 18 25573538 25573538 G T SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known missense c.1084 p.L362I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 155 0 0 147 17 10.3659 KLHL14 0 genome.wustl.edu 37 18 30260195 30260195 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 18 30260195 30260195 C T SNP KLHL14 ENST00000359358 human ensembl 74_37 -1 known missense c.1525 p.A509T 1.000 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 KLHL14 HGNC ENSG00000197705 67 0 0 76 8 9.52381 KLHL14 0 genome.wustl.edu 37 18 30349901 30349901 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 18 30349901 30349901 G A SNP KLHL14 ENST00000359358 human ensembl 74_37 -1 known silent c.654 p.F218 1.000 pfam_BACK,smart_BACK,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 KLHL14 HGNC ENSG00000197705 42 0 0 39 11 22 SMAD2 0 genome.wustl.edu 37 18 45374871 45374871 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 18 45374871 45374871 C T SNP SMAD2 ENST00000262160 human ensembl 74_37 -1 known silent c.972 p.T324 0.007 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD2 HGNC ENSG00000175387 78 0 0 64 5 7.24638 SMAD2 0 genome.wustl.edu 37 18 45423026 45423026 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 18 45423026 45423026 A G SNP SMAD2 ENST00000262160 human ensembl 74_37 -1 known silent c.102 p.N34 0.992 superfamily_MAD_homology_MH1,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD2 HGNC ENSG00000175387 60 0 0 59 11 15.7143 WDR7 0 genome.wustl.edu 37 18 54424291 54424291 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 18 54424291 54424291 C T SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.2467 p.R823C 1.000 NULL pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 126 0 0 136 19 12.2581 ENSG00000267462 0 genome.wustl.edu 37 18 57677616 57677616 + RNA SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 18 57677616 57677616 G A SNP ENSG00000267462 ENST00000585691 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-866E20.3 Clone_based_vega_gene ENSG00000267462 42 0 0 27 6 18.1818 CTDP1 0 genome.wustl.edu 37 18 77477994 77477994 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 18 77477994 77477994 C T SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known missense c.2395 p.R799C 0.964 pfam_FCP1_C pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 70 0 0 39 11 22 ADNP2 0 genome.wustl.edu 37 18 77896267 77896267 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 18 77896267 77896267 C T SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known missense c.2971 p.R991W 0.074 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 118 0 0 91 8 8.08081 PTPRM 0 genome.wustl.edu 37 18 7888203 7888203 + Missense_Mutation SNP T T G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 18 7888203 7888203 T G SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.296 p.F99C 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 131 0 0 98 15 13.2743 ATG4D 0 genome.wustl.edu 37 19 10662783 10662783 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 10662783 10662783 G A SNP ATG4D ENST00000309469 human ensembl 74_37 +1 known missense c.1108 p.D370N 0.027 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4D HGNC ENSG00000130734 92 0 0 64 8 11.1111 KRI1 0 genome.wustl.edu 37 19 10664749 10664749 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 10664749 10664749 G A SNP KRI1 ENST00000312962 human ensembl 74_37 -1 known missense c.2008 p.L670F 0.722 NULL pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 141 0 0 102 11 9.73451 CARM1 0 genome.wustl.edu 37 19 11032110 11032110 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 11032110 11032110 A G SNP CARM1 ENST00000327064 human ensembl 74_37 +1 known missense c.1675 p.I559V 1.000 NULL pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11 - no_errors CARM1 HGNC ENSG00000142453 161 0 0 90 14 13.4615 SMARCA4 0 genome.wustl.edu 37 19 11129651 11129651 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 11129651 11129651 G A SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known silent c.2457 p.A819 0.286 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 122 1 0.813008 86 7 7.52688 PRKCSH 0 genome.wustl.edu 37 19 11557919 11557919 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 11557919 11557919 G A SNP PRKCSH ENST00000252455 human ensembl 74_37 +1 known missense c.793 p.A265T 0.004 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom - no_errors PRKCSH HGNC ENSG00000130175 75 0 0 48 11 18.6441 ZSWIM4 0 genome.wustl.edu 37 19 13930229 13930229 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 13930229 13930229 C T SNP ZSWIM4 ENST00000254323 human ensembl 74_37 +1 known silent c.1632 p.T544 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 27 0 0 12 3 20 RFX1 0 genome.wustl.edu 37 19 14088816 14088816 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 14088816 14088816 G A SNP RFX1 ENST00000254325 human ensembl 74_37 -1 known missense c.917 p.T306M 1.000 pfam_RFX1_trans_act pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC ENSG00000132005 116 0 0 73 5 6.41026 CYP4F2 0 genome.wustl.edu 37 19 15997110 15997110 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 15997110 15997110 G A SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known silent c.927 p.D309 0.997 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 249 0 0 188 19 9.17874 AP1M1 0 genome.wustl.edu 37 19 16319980 16319980 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 16319980 16319980 A G SNP AP1M1 ENST00000444449 human ensembl 74_37 +1 known missense c.538 p.N180D 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M1 HGNC ENSG00000072958 113 0 0 54 16 22.8571 ARMC6 0 genome.wustl.edu 37 19 19162758 19162758 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 19162758 19162758 C T SNP ARMC6 ENST00000392336 human ensembl 74_37 +1 known missense c.607 p.R203C 0.935 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC6 HGNC ENSG00000105676 43 0 0 29 3 9.375 ZNF728 0 genome.wustl.edu 37 19 23171188 23171188 + Silent SNP A A C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 23171188 23171188 A C SNP ZNF728 ENST00000594710 human ensembl 74_37 -1 novel silent c.69 p.T23 0.162 pfam_Krueppel-associated_box,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 ZNF728 HGNC ENSG00000269067 143 0 0 142 17 10.6918 ZNF556 0 genome.wustl.edu 37 19 2877696 2877696 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 2877696 2877696 G A SNP ZNF556 ENST00000307635 human ensembl 74_37 +1 known missense c.740 p.R247H 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF556 HGNC ENSG00000172000 54 0 0 34 7 17.0732 TLE2 0 genome.wustl.edu 37 19 3005804 3005804 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 3005804 3005804 C T SNP TLE2 ENST00000262953 human ensembl 74_37 -1 known missense c.1663 p.V555I 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TLE2 HGNC ENSG00000065717 62 0 0 44 8 15.3846 ZNF792 0 genome.wustl.edu 37 19 35448881 35448881 + Silent SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 35448881 35448881 G T SNP ZNF792 ENST00000404801 human ensembl 74_37 -1 known silent c.1878 p.T626 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF792 HGNC ENSG00000180884 24 0 0 12 3 20 CD22 0 genome.wustl.edu 37 19 35823533 35823533 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 35823533 35823533 G A SNP CD22 ENST00000085219 human ensembl 74_37 +1 known missense c.118 p.V40I 0.889 smart_Ig_sub pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD22 HGNC ENSG00000012124 87 0 0 48 7 12.7273 KMT2B 0 genome.wustl.edu 37 19 36229428 36229428 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 36229428 36229428 C T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known silent c.8118 p.G2706 0.991 pirsf_MeTrfase_trithorax,smart_Post-SET_dom,pfscan_Post-SET_dom pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 32 0 0 21 3 12.5 C19orf55 0 genome.wustl.edu 37 19 36252996 36252996 + Missense_Mutation SNP T T G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 36252996 36252996 T G SNP C19orf55 ENST00000396908 human ensembl 74_37 +1 known missense c.388 p.F130V 1.000 NULL NULL - no_errors C19orf55 HGNC ENSG00000167595 31 0 0 26 3 10.3448 PRODH2 0 genome.wustl.edu 37 19 36303061 36303061 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 36303061 36303061 G A SNP PRODH2 ENST00000301175 human ensembl 74_37 -1 known missense c.713 p.T238M 1.000 NULL pfam_Proline_DH - no_errors PRODH2 HGNC ENSG00000250799 98 0 0 42 4 8.69565 LRFN3 0 genome.wustl.edu 37 19 36435583 36435583 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 36435583 36435583 C T SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.1549 p.R517C 0.003 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,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 LRFN3 HGNC ENSG00000126243 20 0 0 15 2 11.7647 PIP5K1C 0 genome.wustl.edu 37 19 3644089 3644089 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 3644089 3644089 G A SNP PIP5K1C ENST00000537021 human ensembl 74_37 -1 known silent c.1506 p.D502 0.944 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 87 0 0 45 6 11.7647 KCNK6 0 genome.wustl.edu 37 19 38818031 38818031 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 38818031 38818031 C T SNP KCNK6 ENST00000263372 human ensembl 74_37 +1 known silent c.930 p.S310 1.000 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK2,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK1 - no_errors KCNK6 HGNC ENSG00000099337 46 0 0 32 4 11.1111 RYR1 0 genome.wustl.edu 37 19 39052022 39052022 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 39052022 39052022 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.12552 p.G4184 0.994 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 102 0 0 62 6 8.82353 PAPL 0 genome.wustl.edu 37 19 39597685 39597685 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 39597685 39597685 C T SNP PAPL ENST00000331256 human ensembl 74_37 +1 known silent c.1212 p.N404 0.989 NULL pfam_PEstase_dom,superfamily_Purple_acid_Pase-like_N - no_errors PAPL Uniprot_gn ENSG00000183760 66 0 0 41 4 8.88889 SUPT5H 0 genome.wustl.edu 37 19 39962069 39962069 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 39962069 39962069 G A SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known missense c.1750 p.A584T 1.000 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 95 0 0 50 8 13.7931 PLD3 0 genome.wustl.edu 37 19 40883977 40883977 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 40883977 40883977 G A SNP PLD3 ENST00000356508 human ensembl 74_37 +1 known missense c.1370 p.R457Q 0.996 NULL pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD3 HGNC ENSG00000105223 140 0 0 122 8 6.15385 PSG6 0 genome.wustl.edu 37 19 43411907 43411907 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 43411907 43411907 G A SNP PSG6 ENST00000292125 human ensembl 74_37 -1 known missense c.806 p.T269I 0.001 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG6 HGNC ENSG00000170848 341 0 0 257 23 8.21429 UBXN6 0 genome.wustl.edu 37 19 4445559 4445559 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 4445559 4445559 G A SNP UBXN6 ENST00000301281 human ensembl 74_37 -1 known missense c.1262 p.A421V 0.658 NULL pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX - no_errors UBXN6 HGNC ENSG00000167671 179 0 0 118 9 7.08661 ZNF235 0 genome.wustl.edu 37 19 44792273 44792273 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 44792273 44792273 G A SNP ZNF235 ENST00000291182 human ensembl 74_37 -1 known missense c.1315 p.R439C 0.206 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 ZNF235 HGNC ENSG00000159917 85 0 0 72 12 14.2857 RELB 0 genome.wustl.edu 37 19 45540998 45540998 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 45540998 45540998 G A SNP RELB ENST00000221452 human ensembl 74_37 +1 known missense c.1690 p.E564K 0.697 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELB HGNC ENSG00000104856 59 0 0 33 3 8.33333 NOVA2 0 genome.wustl.edu 37 19 46443203 46443203 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 46443203 46443203 G A SNP NOVA2 ENST00000263257 human ensembl 74_37 -1 known missense c.1397 p.T466M 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA2 HGNC ENSG00000104967 91 0 0 68 7 9.33333 NOVA2 0 genome.wustl.edu 37 19 46443210 46443210 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 46443210 46443210 C T SNP NOVA2 ENST00000263257 human ensembl 74_37 -1 known missense c.1390 p.A464T 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA2 HGNC ENSG00000104967 92 0 0 71 6 7.79221 C5AR2 0 genome.wustl.edu 37 19 47844864 47844864 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 47844864 47844864 C A SNP C5AR2 ENST00000257267 human ensembl 74_37 +1 known missense c.808 p.L270M 0.083 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Anaphtx_C5AR1/C5AR2 - no_errors C5AR2 HGNC ENSG00000134830 100 0 0 86 6 6.52174 ENSG00000269656 0 genome.wustl.edu 37 19 48260402 48260402 + RNA SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 48260402 48260402 G A SNP ENSG00000269656 ENST00000602048 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2571L23.6 Clone_based_vega_gene ENSG00000269656 23 0 0 16 3 15.7895 CRX 0 genome.wustl.edu 37 19 48342889 48342889 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 48342889 48342889 G A SNP CRX ENST00000221996 human ensembl 74_37 +1 known missense c.565 p.A189T 0.016 pfam_Otx_TF_C pfam_Homeobox_dom,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors CRX HGNC ENSG00000105392 92 0 0 47 9 16.0714 PLA2G4C 0 genome.wustl.edu 37 19 48565451 48565451 + RNA SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 48565451 48565451 A G SNP PLA2G4C ENST00000599239 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PLA2G4C HGNC ENSG00000105499 22 0 0 17 6 26.087 TRPM4 0 genome.wustl.edu 37 19 49685968 49685968 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 49685968 49685968 C A SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known missense c.1397 p.A466E 0.023 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 65 0 0 43 5 10.4167 TEAD2 0 genome.wustl.edu 37 19 49845794 49845794 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 49845794 49845794 C T SNP TEAD2 ENST00000311227 human ensembl 74_37 -1 known silent c.1131 p.S377 0.768 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 92 0 0 51 7 12.069 TEAD2 0 genome.wustl.edu 37 19 49846583 49846583 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 49846583 49846583 C T SNP TEAD2 ENST00000311227 human ensembl 74_37 -1 known missense c.982 p.G328R 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 98 0 0 89 11 11 C19orf48 0 genome.wustl.edu 37 19 51301784 51301784 + RNA SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 51301784 51301784 C T SNP C19orf48 ENST00000595794 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C19orf48 HGNC ENSG00000167747 31 0 0 18 4 18.1818 SIGLEC5 0 genome.wustl.edu 37 19 52131128 52131128 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 52131128 52131128 G A SNP SIGLEC5 ENST00000222107 human ensembl 74_37 -1 known missense c.956 p.P319L 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 90 0 0 47 11 18.9655 ZNF432 0 genome.wustl.edu 37 19 52537083 52537083 + Nonsense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 52537083 52537083 G A SNP ZNF432 ENST00000221315 human ensembl 74_37 -1 known nonsense c.1849 p.R617* 0.312 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 ZNF432 HGNC ENSG00000256087 152 0 0 119 13 9.84848 ZNF468 0 genome.wustl.edu 37 19 53344480 53344480 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 53344480 53344480 G A SNP ZNF468 ENST00000595646 human ensembl 74_37 -1 known missense c.1067 p.T356I 0.117 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 ZNF468 HGNC ENSG00000204604 142 0 0 111 11 9.01639 NLRP12 0 genome.wustl.edu 37 19 54312973 54312973 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 54312973 54312973 T C SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.1940 p.H647R 0.794 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 61 0 0 46 3 6.12245 VSTM1 0 genome.wustl.edu 37 19 54561663 54561663 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 54561663 54561663 C T SNP VSTM1 ENST00000338372 human ensembl 74_37 -1 known silent c.252 p.T84 0.000 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM1 HGNC ENSG00000189068 132 0 0 87 7 7.44681 LENG1 0 genome.wustl.edu 37 19 54660730 54660730 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 54660730 54660730 A G SNP LENG1 ENST00000222224 human ensembl 74_37 -1 known missense c.346 p.Y116H 0.994 NULL NULL - no_errors LENG1 HGNC ENSG00000105617 49 0 0 47 7 12.963 LENG8 0 genome.wustl.edu 37 19 54969327 54969327 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 54969327 54969327 C A SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known missense c.1948 p.L650M 0.998 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 106 0 0 65 7 9.72222 KIR2DL3 0 genome.wustl.edu 37 19 55263160 55263160 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 55263160 55263160 C A SNP KIR2DL3 ENST00000342376 human ensembl 74_37 +1 known missense c.775 p.L259I 0.002 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL3 HGNC ENSG00000243772 71 0 0 35 7 16.6667 KIR3DL1 0 genome.wustl.edu 37 19 55329853 55329853 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 55329853 55329853 C T SNP KIR3DL1 ENST00000402254 human ensembl 74_37 +1 known missense c.154 p.R52C 0.000 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 51 0 0 37 3 7.5 NLRP7 0 genome.wustl.edu 37 19 55451584 55451584 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 55451584 55451584 G A SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known silent c.687 p.S229 0.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 115 0 0 74 4 5.12821 TNNT1 0 genome.wustl.edu 37 19 55648520 55648520 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 55648520 55648520 C T SNP TNNT1 ENST00000588981 human ensembl 74_37 -1 known missense c.562 p.E188K 0.997 pfam_Troponin pfam_Troponin - no_errors TNNT1 HGNC ENSG00000105048 58 0 0 42 5 10.6383 DUS3L 0 genome.wustl.edu 37 19 5785223 5785223 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 5785223 5785223 C T SNP DUS3L ENST00000309061 human ensembl 74_37 -1 known silent c.1944 p.A648 0.646 NULL pfam_tRNA_hU_synthase - no_errors DUS3L HGNC ENSG00000141994 10 0 0 13 4 23.5294 FUT6 0 genome.wustl.edu 37 19 5832172 5832172 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 5832172 5832172 A G SNP FUT6 ENST00000592563 human ensembl 74_37 -1 known missense c.407 p.M136T 0.997 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT6 HGNC ENSG00000156413 79 0 0 41 4 8.88889 ZSCAN18 0 genome.wustl.edu 37 19 58601684 58601684 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 58601684 58601684 G A SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known missense c.119 p.P40L 0.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 27 0 0 34 6 15 ADAMTS10 0 genome.wustl.edu 37 19 8656934 8656934 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 8656934 8656934 G A SNP ADAMTS10 ENST00000593826 human ensembl 74_37 -1 known missense c.113 p.T38M 0.995 NULL NULL - no_errors ADAMTS10 HGNC ENSG00000142303 67 0 0 44 5 10.2041 OR7G2 0 genome.wustl.edu 37 19 9213528 9213528 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 9213528 9213528 C A SNP OR7G2 ENST00000305456 human ensembl 74_37 -1 known missense c.455 p.R152I 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G2 HGNC ENSG00000170923 65 0 0 42 7 14.2857 TAF1B 0 genome.wustl.edu 37 2 10059231 10059231 + Nonsense_Mutation SNP A A T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 10059231 10059231 A T SNP TAF1B ENST00000263663 human ensembl 74_37 +1 known nonsense c.1333 p.K445* 0.986 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 49 0 0 43 5 10.4167 RPL31 0 genome.wustl.edu 37 2 101622447 101622447 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 101622447 101622447 G A SNP RPL31 ENST00000264258 human ensembl 74_37 +1 known missense c.260 p.R87Q 1.000 pfam_Ribosomal_L31e,superfamily_Ribosomal_L31e_dom pfam_Ribosomal_L31e,superfamily_Ribosomal_L31e_dom - no_errors RPL31 HGNC ENSG00000071082 43 0 0 29 3 9.375 NCK2 0 genome.wustl.edu 37 2 106497888 106497888 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 106497888 106497888 G A SNP NCK2 ENST00000233154 human ensembl 74_37 +1 known missense c.331 p.D111N 1.000 pirsf_Cytoplasmic_NCK pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC ENSG00000071051 62 0 0 55 6 9.83607 BUB1 0 genome.wustl.edu 37 2 111414651 111414651 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 111414651 111414651 C T SNP BUB1 ENST00000302759 human ensembl 74_37 -1 known missense c.1660 p.G554R 1.000 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors BUB1 HGNC ENSG00000169679 68 0 0 55 4 6.77966 STEAP3 0 genome.wustl.edu 37 2 120020675 120020675 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 120020675 120020675 A G SNP STEAP3 ENST00000393110 human ensembl 74_37 +1 known missense c.1258 p.T420A 1.000 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP3 HGNC ENSG00000115107 164 0 0 102 11 9.73451 CCDC74A 0 genome.wustl.edu 37 2 132290278 132290278 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 132290278 132290278 G A SNP CCDC74A ENST00000295171 human ensembl 74_37 +1 known missense c.800 p.R267Q 0.983 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 139 0 0 84 23 21.4953 THSD7B 0 genome.wustl.edu 37 2 137814173 137814173 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 137814173 137814173 T C SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.323 p.V108A 0.987 superfamily_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 35 0 0 30 6 16.6667 ZEB2 0 genome.wustl.edu 37 2 145154054 145154054 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 145154054 145154054 T C SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.2992 p.M998V 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 168 0 0 138 8 5.47945 ARL5A 0 genome.wustl.edu 37 2 152663420 152663420 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 152663420 152663420 C T SNP ARL5A ENST00000295087 human ensembl 74_37 -1 known missense c.406 p.A136T 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5A HGNC ENSG00000162980 48 0 0 36 4 10 PRPF40A 0 genome.wustl.edu 37 2 153526809 153526809 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 153526809 153526809 A G SNP PRPF40A ENST00000410080 human ensembl 74_37 -1 known silent c.1566 p.T522 0.989 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom,prints_Antifreeze_1 - no_errors PRPF40A HGNC ENSG00000196504 41 0 0 33 8 19.5122 ITGB6 0 genome.wustl.edu 37 2 160994276 160994276 + Silent SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 160994276 160994276 G T SNP ITGB6 ENST00000283249 human ensembl 74_37 -1 known silent c.1329 p.A443 0.759 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 31 0 0 29 4 12.1212 IFIH1 0 genome.wustl.edu 37 2 163174504 163174504 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 163174504 163174504 G A SNP IFIH1 ENST00000263642 human ensembl 74_37 -1 known missense c.314 p.P105L 0.991 NULL pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 203 0 0 212 14 6.19469 SCN2A 0 genome.wustl.edu 37 2 166179909 166179909 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 166179909 166179909 C T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.1915 p.P639S 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 41 0 0 36 4 10 TTN 0 genome.wustl.edu 37 2 179428619 179428619 + Nonsense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 179428619 179428619 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.74536 p.R24846* 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 105 0 0 89 12 11.8812 TTN 0 genome.wustl.edu 37 2 179480516 179480516 + Splice_Site SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 179480516 179480516 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known splice_site c.40609-1 e206-1 1.000 - - - no_errors TTN HGNC ENSG00000155657 44 0 0 39 6 13.3333 TTN 0 genome.wustl.edu 37 2 179611454 179611454 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 179611454 179611454 G A SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.15673 p.P5225S 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 79 0 0 86 8 8.51064 MYT1L 0 genome.wustl.edu 37 2 1893133 1893133 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 1893133 1893133 C A SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.2400 p.Q800H 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 81 0 0 52 13 20 WDR35 0 genome.wustl.edu 37 2 20173358 20173358 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 20173358 20173358 A G SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known missense c.848 p.V283A 0.125 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 57 0 0 41 6 12.766 PIKFYVE 0 genome.wustl.edu 37 2 209209876 209209876 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 209209876 209209876 C T SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known missense c.5069 p.A1690V 0.630 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 24 0 0 24 4 14.2857 PTH2R 0 genome.wustl.edu 37 2 209271775 209271775 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 209271775 209271775 G A SNP PTH2R ENST00000272847 human ensembl 74_37 +1 known missense c.7 p.G3R 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors PTH2R HGNC ENSG00000144407 132 0 0 83 10 10.7527 ABCA12 0 genome.wustl.edu 37 2 215851418 215851418 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 215851418 215851418 A G SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.4011 p.P1337 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 37 0 0 32 3 8.57143 USP37 0 genome.wustl.edu 37 2 219319721 219319721 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 219319721 219319721 G A SNP USP37 ENST00000258399 human ensembl 74_37 -1 known silent c.2872 p.L958 1.000 NULL pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP37 HGNC ENSG00000135913 115 0 0 96 8 7.69231 STK11IP 0 genome.wustl.edu 37 2 220480877 220480877 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 220480877 220480877 C T SNP STK11IP ENST00000456909 human ensembl 74_37 +1 novel missense c.3229 p.R1077W 0.998 NULL NULL - no_errors STK11IP HGNC ENSG00000144589 45 0 0 17 3 15 DIS3L2 0 genome.wustl.edu 37 2 233198664 233198664 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 233198664 233198664 G A SNP DIS3L2 ENST00000325385 human ensembl 74_37 +1 known missense c.2125 p.V709I 0.961 NULL NULL - no_errors DIS3L2 HGNC ENSG00000144535 112 0 0 67 8 10.6667 ECEL1 0 genome.wustl.edu 37 2 233346319 233346319 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 233346319 233346319 C A SNP ECEL1 ENST00000304546 human ensembl 74_37 -1 known missense c.1886 p.G629V 1.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 48 0 0 38 6 13.6364 ACKR3 0 genome.wustl.edu 37 2 237489306 237489306 + Silent SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 237489306 237489306 C A SNP ACKR3 ENST00000272928 human ensembl 74_37 +1 known silent c.198 p.V66 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR7,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Formyl_pep_rcpt - no_errors ACKR3 HGNC ENSG00000144476 52 0 0 39 5 11.3636 FARP2 0 genome.wustl.edu 37 2 242401954 242401954 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 242401954 242401954 A G SNP FARP2 ENST00000264042 human ensembl 74_37 +1 known missense c.1604 p.E535G 1.000 superfamily_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP2 HGNC ENSG00000006607 56 0 0 61 4 6.15385 ATG4B 0 genome.wustl.edu 37 2 242598544 242598544 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 242598544 242598544 G A SNP ATG4B ENST00000404914 human ensembl 74_37 +1 known silent c.480 p.T160 0.003 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4B HGNC ENSG00000168397 33 0 0 24 3 11.1111 ADCY3 0 genome.wustl.edu 37 2 25057796 25057796 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 25057796 25057796 G A SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known missense c.1672 p.P558S 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 20 0 0 14 5 26.3158 IFT172 0 genome.wustl.edu 37 2 27683910 27683910 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 27683910 27683910 G A SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known silent c.2493 p.C831 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 140 0 0 114 17 12.9771 ALK 0 genome.wustl.edu 37 2 29456558 29456558 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 29456558 29456558 T C SNP ALK ENST00000389048 human ensembl 74_37 -1 known missense c.2360 p.N787S 0.919 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 107 1 0.925926 76 6 7.31707 ALK 0 genome.wustl.edu 37 2 30143119 30143119 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 30143119 30143119 C T SNP ALK ENST00000389048 human ensembl 74_37 -1 known missense c.407 p.R136Q 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 13 0 0 11 4 26.6667 EHD3 0 genome.wustl.edu 37 2 31457553 31457553 + Silent SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 31457553 31457553 T C SNP EHD3 ENST00000322054 human ensembl 74_37 +1 known silent c.66 p.S22 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD3 HGNC ENSG00000013016 95 0 0 73 6 7.59494 SLC8A1 0 genome.wustl.edu 37 2 40655876 40655876 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 40655876 40655876 A G SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known silent c.1545 p.V515 0.013 prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 62 0 0 60 9 13.0435 PRKCE 0 genome.wustl.edu 37 2 46237529 46237529 + Missense_Mutation SNP A A C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 46237529 46237529 A C SNP PRKCE ENST00000306156 human ensembl 74_37 +1 known missense c.1310 p.K437T 1.000 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,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 95 0 0 86 9 9.47368 MSH6 0 genome.wustl.edu 37 2 48028150 48028150 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 48028150 48028150 A G SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known missense c.3028 p.T1010A 1.000 pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,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 69 0 0 63 13 17.1053 NRXN1 0 genome.wustl.edu 37 2 50850582 50850582 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 50850582 50850582 A G SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.1004 p.L335P 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 74 0 0 94 9 8.73786 CCDC85A 0 genome.wustl.edu 37 2 56420254 56420254 + Nonsense_Mutation SNP A A T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 56420254 56420254 A T SNP CCDC85A ENST00000407595 human ensembl 74_37 +1 known nonsense c.919 p.K307* 1.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 88 0 0 67 18 21.1765 USP34 0 genome.wustl.edu 37 2 61450271 61450271 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 61450271 61450271 C T SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.7673 p.R2558H 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 49 0 0 45 5 10 USP34 0 genome.wustl.edu 37 2 61575116 61575116 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 61575116 61575116 C T SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.2174 p.R725Q 0.925 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 143 0 0 119 16 11.8519 PROKR1 0 genome.wustl.edu 37 2 68882355 68882355 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 68882355 68882355 C T SNP PROKR1 ENST00000303786 human ensembl 74_37 +1 known missense c.829 p.R277C 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_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR1 HGNC ENSG00000169618 64 0 0 38 3 7.31707 ANTXR1 0 genome.wustl.edu 37 2 69351762 69351762 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 69351762 69351762 C T SNP ANTXR1 ENST00000303714 human ensembl 74_37 +1 known missense c.938 p.T313I 1.000 pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ENSG00000169604 62 0 0 48 4 7.69231 PCYOX1 0 genome.wustl.edu 37 2 70504482 70504482 + Silent SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 70504482 70504482 T C SNP PCYOX1 ENST00000433351 human ensembl 74_37 +1 known silent c.1476 p.I492 0.989 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1 HGNC ENSG00000116005 180 0 0 126 20 13.6986 DYSF 0 genome.wustl.edu 37 2 71740970 71740970 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 71740970 71740970 G A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known silent c.675 p.P225 0.054 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 54 0 0 32 4 11.1111 STAMBP 0 genome.wustl.edu 37 2 74086401 74086401 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 74086401 74086401 G A SNP STAMBP ENST00000339566 human ensembl 74_37 +1 known silent c.1026 p.A342 0.997 pfam_JAB_MPN_dom,smart_JAB_MPN_dom pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBP HGNC ENSG00000124356 247 1 0.403226 170 23 11.9171 TET3 0 genome.wustl.edu 37 2 74328942 74328942 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 74328942 74328942 C T SNP TET3 ENST00000409262 human ensembl 74_37 +1 known missense c.4622 p.T1541M 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 61 0 0 53 6 10.1695 DQX1 0 genome.wustl.edu 37 2 74750267 74750267 + Nonsense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 74750267 74750267 G A SNP DQX1 ENST00000393951 human ensembl 74_37 -1 known nonsense c.1123 p.R375* 0.403 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 164 0 0 119 11 8.46154 KDM3A 0 genome.wustl.edu 37 2 86693820 86693820 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 86693820 86693820 T C SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known missense c.1333 p.S445P 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 110 0 0 96 13 11.9266 KDM3A 0 genome.wustl.edu 37 2 86697397 86697397 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 86697397 86697397 C T SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known silent c.1590 p.F530 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 73 0 0 48 7 12.7273 KIDINS220 0 genome.wustl.edu 37 2 8946399 8946399 + Splice_Site SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 8946399 8946399 A G SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known splice_site c.603+2 e6+2 1.000 - - - no_errors KIDINS220 HGNC ENSG00000134313 159 0 0 133 26 16.3522 MRPS5 0 genome.wustl.edu 37 2 95756174 95756174 + Missense_Mutation SNP A A C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 95756174 95756174 A C SNP MRPS5 ENST00000272418 human ensembl 74_37 -1 known missense c.1025 p.M342R 1.000 pfam_Ribosomal_S5_C,superfamily_Ribosomal_S5_D2-typ_fold pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N - no_errors MRPS5 HGNC ENSG00000144029 111 0 0 81 7 7.95455 THBD 0 genome.wustl.edu 37 20 23028939 23028939 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 23028939 23028939 C T SNP THBD ENST00000377103 human ensembl 74_37 -1 known silent c.1203 p.P401 0.000 pirsf_CD93/CD141,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Thrombomodulin pirsf_CD93/CD141,pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin,pfscan_C-type_lectin - no_errors THBD HGNC ENSG00000178726 111 1 0.892857 67 5 6.94444 BPIFB1 0 genome.wustl.edu 37 20 31876653 31876653 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 31876653 31876653 C T SNP BPIFB1 ENST00000253354 human ensembl 74_37 +1 known silent c.222 p.G74 0.044 pfam_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form 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,pirsf_PLUNC_long_form - no_errors BPIFB1 HGNC ENSG00000125999 33 0 0 19 6 24 CTNNBL1 0 genome.wustl.edu 37 20 36488339 36488339 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 36488339 36488339 C T SNP CTNNBL1 ENST00000405275 human ensembl 74_37 +1 known silent c.1350 p.T450 0.212 NULL pfam_CTNNBL1_N,superfamily_ARM-type_fold - no_errors CTNNBL1 HGNC ENSG00000132792 38 0 0 27 4 12.9032 TGM2 0 genome.wustl.edu 37 20 36760860 36760860 + Missense_Mutation SNP T T A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 36760860 36760860 T A SNP TGM2 ENST00000361475 human ensembl 74_37 -1 known missense c.1658 p.D553V 0.000 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 294 0 0 201 19 8.63636 TRIB3 0 genome.wustl.edu 37 20 372119 372119 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 372119 372119 C T SNP TRIB3 ENST00000422053 human ensembl 74_37 +1 known silent c.561 p.A187 0.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors TRIB3 HGNC ENSG00000101255 38 0 0 34 2 5.55556 SLC32A1 0 genome.wustl.edu 37 20 37357018 37357018 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 37357018 37357018 G A SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known silent c.1314 p.A438 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 52 0 0 28 5 15.1515 PTPRT 0 genome.wustl.edu 37 20 40735533 40735533 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 40735533 40735533 T C SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.3340 p.I1114V 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 101 0 0 64 4 5.88235 WFDC9 0 genome.wustl.edu 37 20 44238793 44238793 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 44238793 44238793 T C SNP WFDC9 ENST00000326000 human ensembl 74_37 -1 known missense c.28 p.M10V 0.000 NULL NULL - no_errors WFDC9 HGNC ENSG00000180205 34 0 0 22 6 21.4286 RASSF2 0 genome.wustl.edu 37 20 4776526 4776526 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 4776526 4776526 G A SNP RASSF2 ENST00000379376 human ensembl 74_37 -1 known silent c.222 p.N74 0.431 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF2 HGNC ENSG00000101265 103 0 0 60 18 23.0769 FERMT1 0 genome.wustl.edu 37 20 6057881 6057881 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 6057881 6057881 T C SNP FERMT1 ENST00000217289 human ensembl 74_37 -1 known missense c.1973 p.K658R 1.000 NULL pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT1 HGNC ENSG00000101311 80 0 0 44 13 22.807 LAMA5 0 genome.wustl.edu 37 20 60887493 60887493 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 60887493 60887493 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.9323 p.T3108M 0.995 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 35 0 0 19 2 9.52381 YTHDF1 0 genome.wustl.edu 37 20 61834930 61834930 + Missense_Mutation SNP T T A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 61834930 61834930 T A SNP YTHDF1 ENST00000370339 human ensembl 74_37 -1 known missense c.362 p.N121I 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 72 0 0 42 5 10.6383 KCNQ2 0 genome.wustl.edu 37 20 62070004 62070004 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 62070004 62070004 G A SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known missense c.997 p.R333W 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 90 0 0 51 5 8.92857 KCNQ2 0 genome.wustl.edu 37 20 62073780 62073780 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 62073780 62073780 C T SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known silent c.795 p.A265 0.104 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 298 0 0 174 30 14.7059 C20orf195 0 genome.wustl.edu 37 20 62187821 62187821 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 62187821 62187821 G A SNP C20orf195 ENST00000370097 human ensembl 74_37 +1 known missense c.805 p.D269N 0.277 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors C20orf195 HGNC ENSG00000125531 215 0 0 154 13 7.78443 APP 0 genome.wustl.edu 37 21 27372467 27372467 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 21 27372467 27372467 G A SNP APP ENST00000346798 human ensembl 74_37 -1 known missense c.896 p.P299L 1.000 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APP HGNC ENSG00000142192 49 0 0 36 4 10 TIAM1 0 genome.wustl.edu 37 21 32493117 32493117 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 21 32493117 32493117 G A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.4345 p.R1449W 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 45 0 0 28 3 9.67742 GART 0 genome.wustl.edu 37 21 34892698 34892698 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 21 34892698 34892698 A G SNP GART ENST00000381815 human ensembl 74_37 -1 known missense c.1675 p.C559R 0.987 pfam_AIR_synth_N_dom,superfamily_PurM_N-like,tigrfam_PurM_cligase pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 53 0 0 52 6 10.3448 TTC3 0 genome.wustl.edu 37 21 38516874 38516874 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 21 38516874 38516874 C T SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.1822 p.R608C 0.357 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 112 1 0.884956 106 8 7.01754 BRWD1 0 genome.wustl.edu 37 21 40568453 40568453 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 21 40568453 40568453 G A SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known missense c.6542 p.T2181M 0.001 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 59 0 0 59 9 13.2353 ITGB2 0 genome.wustl.edu 37 21 46320324 46320324 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 21 46320324 46320324 C T SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known missense c.808 p.A270T 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 73 0 0 37 10 21.2766 ENSG00000161103 0 genome.wustl.edu 37 22 18845939 18845939 + RNA SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 22 18845939 18845939 G A SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 24 0 0 13 3 18.75 ARVCF 0 genome.wustl.edu 37 22 19966463 19966463 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 22 19966463 19966463 C T SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.1537 p.A513T 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 55 0 0 52 5 8.77193 CCDC116 0 genome.wustl.edu 37 22 21989426 21989426 + Silent SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 22 21989426 21989426 T C SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known silent c.1074 p.N358 0.000 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 69 0 0 36 4 10 SDF2L1 0 genome.wustl.edu 37 22 21998265 21998265 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 22 21998265 21998265 G A SNP SDF2L1 ENST00000248958 human ensembl 74_37 +1 known missense c.467 p.R156H 0.998 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors SDF2L1 HGNC ENSG00000128228 46 0 0 33 4 10.8108 C22orf15 0 genome.wustl.edu 37 22 24106850 24106850 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 22 24106850 24106850 G A SNP C22orf15 ENST00000402217 human ensembl 74_37 +1 known missense c.275 p.R92H 0.874 superfamily_Ferritin-like_SF superfamily_Ferritin-like_SF - no_errors C22orf15 HGNC ENSG00000169314 65 0 0 44 12 21.4286 SUSD2 0 genome.wustl.edu 37 22 24580150 24580150 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 22 24580150 24580150 C T SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known silent c.486 p.N162 1.000 NULL pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 99 0 0 54 4 6.89655 GGT1 0 genome.wustl.edu 37 22 25019812 25019812 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 22 25019812 25019812 G A SNP GGT1 ENST00000248923 human ensembl 74_37 +1 known missense c.949 p.V317I 1.000 pfam_GGT_peptidase,tigrfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 47 0 0 35 4 10.2564 TBC1D10A 0 genome.wustl.edu 37 22 30689776 30689776 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 22 30689776 30689776 C T SNP TBC1D10A ENST00000215790 human ensembl 74_37 -1 known missense c.914 p.R305Q 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10A HGNC ENSG00000099992 110 0 0 69 5 6.75676 TCN2 0 genome.wustl.edu 37 22 31013374 31013374 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 22 31013374 31013374 C T SNP TCN2 ENST00000215838 human ensembl 74_37 +1 known missense c.998 p.T333M 0.000 NULL pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors TCN2 HGNC ENSG00000185339 62 0 0 37 4 9.7561 PLA2G3 0 genome.wustl.edu 37 22 31533772 31533772 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 22 31533772 31533772 C T SNP PLA2G3 ENST00000215885 human ensembl 74_37 -1 known silent c.990 p.Q330 0.071 NULL pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PLA2G3 HGNC ENSG00000100078 238 0 0 145 11 7.05128 POLR2F 0 genome.wustl.edu 37 22 38355392 38355392 + Nonsense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 22 38355392 38355392 C T SNP POLR2F ENST00000442738 human ensembl 74_37 +1 known nonsense c.130 p.R44* 1.000 superfamily_Pol_omega/K/RPB6 pfam_Pol_omega/K/RPB6,superfamily_Pol_omega/K/RPB6 - no_errors POLR2F HGNC ENSG00000100142 293 0 0 185 19 9.31373 ARFGAP3 0 genome.wustl.edu 37 22 43195135 43195135 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 22 43195135 43195135 G A SNP ARFGAP3 ENST00000263245 human ensembl 74_37 -1 known silent c.1443 p.N481 0.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP3 HGNC ENSG00000242247 153 0 0 116 15 11.4504 EFCAB6 0 genome.wustl.edu 37 22 43976413 43976413 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 22 43976413 43976413 C T SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known silent c.3159 p.T1053 0.000 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 235 0 0 176 13 6.87831 NUP50 0 genome.wustl.edu 37 22 45571865 45571865 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 22 45571865 45571865 G T SNP NUP50 ENST00000347635 human ensembl 74_37 +1 known missense c.244 p.G82W 0.795 pfam_NUP2/50/61 pfam_NUP2/50/61,pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors NUP50 HGNC ENSG00000093000 81 0 0 58 5 7.93651 VHL 0 genome.wustl.edu 37 3 10191488 10191488 + Nonsense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 10191488 10191488 C T SNP VHL ENST00000256474 human ensembl 74_37 +1 known nonsense c.481 p.R161* 0.990 pfam_VHL_tumour_suppress_b/a_dom,superfamily_VHL_tumour_suppress_b/a_dom pfam_VHL_tumour_suppress_b/a_dom,superfamily_VHL_tumour_suppress_b/a_dom - no_errors VHL HGNC ENSG00000134086 40 0 0 29 4 12.1212 VHL 0 genome.wustl.edu 37 3 10191562 10191562 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 10191562 10191562 C T SNP VHL ENST00000256474 human ensembl 74_37 +1 known silent c.555 p.Y185 0.872 pfam_VHL_tumour_suppress_b/a_dom,superfamily_VHL_tumour_suppress_b/a_dom pfam_VHL_tumour_suppress_b/a_dom,superfamily_VHL_tumour_suppress_b/a_dom - no_errors VHL HGNC ENSG00000134086 47 0 0 31 3 8.82353 TMPRSS7 0 genome.wustl.edu 37 3 111795755 111795755 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 111795755 111795755 T C SNP TMPRSS7 ENST00000419127 human ensembl 74_37 +1 known missense c.1610 p.L537P 0.996 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS7 HGNC ENSG00000176040 148 0 0 132 10 7.04225 TMEM39A 0 genome.wustl.edu 37 3 119165905 119165905 + Nonsense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 119165905 119165905 G A SNP TMEM39A ENST00000319172 human ensembl 74_37 -1 known nonsense c.535 p.R179* 1.000 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39A HGNC ENSG00000176142 56 0 0 65 4 5.7971 KPNA1 0 genome.wustl.edu 37 3 122152609 122152609 + Silent SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 122152609 122152609 T C SNP KPNA1 ENST00000344337 human ensembl 74_37 -1 known silent c.1149 p.P383 0.996 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA1 HGNC ENSG00000114030 54 0 0 71 4 5.33333 PDIA5 0 genome.wustl.edu 37 3 122880264 122880264 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 122880264 122880264 T C SNP PDIA5 ENST00000316218 human ensembl 74_37 +1 known missense c.1441 p.Y481H 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 97 0 0 57 3 5 CCDC14 0 genome.wustl.edu 37 3 123633848 123633848 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 123633848 123633848 A G SNP CCDC14 ENST00000488653 human ensembl 74_37 -1 known silent c.2640 p.C880 0.000 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 37 0 0 42 4 8.69565 SEC61A1 0 genome.wustl.edu 37 3 127783795 127783795 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 127783795 127783795 G A SNP SEC61A1 ENST00000243253 human ensembl 74_37 +1 known missense c.692 p.R231Q 0.543 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A1 HGNC ENSG00000058262 112 0 0 80 11 12.0879 COL6A6 0 genome.wustl.edu 37 3 130289969 130289969 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 130289969 130289969 G A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known silent c.2709 p.R903 0.782 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 23 0 0 38 4 9.52381 COL6A6 0 genome.wustl.edu 37 3 130293357 130293357 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 130293357 130293357 G A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.3535 p.A1179T 0.001 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 57 0 0 34 5 12.8205 SLCO2A1 0 genome.wustl.edu 37 3 133666179 133666179 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 133666179 133666179 T C SNP SLCO2A1 ENST00000310926 human ensembl 74_37 -1 known missense c.1216 p.T406A 0.992 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 54 0 0 53 4 7.01754 NUP210 0 genome.wustl.edu 37 3 13367374 13367374 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 13367374 13367374 G A SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.4565 p.T1522M 0.998 superfamily_Invasin/intimin_cell_adhesion pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 144 0 0 100 6 5.66038 AMOTL2 0 genome.wustl.edu 37 3 134089574 134089574 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 134089574 134089574 G A SNP AMOTL2 ENST00000249883 human ensembl 74_37 -1 known silent c.702 p.R234 0.267 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 93 0 0 61 7 10.2941 DBR1 0 genome.wustl.edu 37 3 137881108 137881108 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 137881108 137881108 C T SNP DBR1 ENST00000260803 human ensembl 74_37 -1 known missense c.1258 p.A420T 0.993 NULL pfam_DBR1_C,pfam_PEstase_dom - no_errors DBR1 HGNC ENSG00000138231 98 0 0 71 12 14.4578 ACPL2 0 genome.wustl.edu 37 3 141011689 141011689 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 141011689 141011689 G A SNP ACPL2 ENST00000286353 human ensembl 74_37 +1 known missense c.1085 p.R362H 0.990 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPL2 HGNC ENSG00000155893 118 0 0 117 7 5.64516 FGD5 0 genome.wustl.edu 37 3 14862458 14862458 + Missense_Mutation SNP A A C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 14862458 14862458 A C SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known missense c.1880 p.K627T 0.997 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 95 0 0 60 7 10.4478 FGD5 0 genome.wustl.edu 37 3 14862863 14862863 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 14862863 14862863 G T SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known missense c.2285 p.R762L 0.997 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 305 0 0 246 17 6.46388 IGSF10 0 genome.wustl.edu 37 3 151162822 151162822 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 151162822 151162822 C A SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.4947 p.R1649S 0.936 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 127 0 0 143 15 9.49367 PLCH1 0 genome.wustl.edu 37 3 155203456 155203456 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 155203456 155203456 G T SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known missense c.2687 p.P896H 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 27 0 0 36 5 12.1951 GALNT15 0 genome.wustl.edu 37 3 16260987 16260987 + Silent SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 16260987 16260987 T C SNP GALNT15 ENST00000339732 human ensembl 74_37 +1 known silent c.1470 p.A490 1.000 superfamily_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT15 HGNC ENSG00000131386 265 1 0.37594 226 14 5.83333 SI 0 genome.wustl.edu 37 3 164764796 164764796 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 164764796 164764796 C T SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.1720 p.V574I 0.107 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 18 0 0 32 3 8.57143 SLC2A2 0 genome.wustl.edu 37 3 170716931 170716931 + Nonsense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 170716931 170716931 G A SNP SLC2A2 ENST00000314251 human ensembl 74_37 -1 known nonsense c.1093 p.R365* 0.929 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_2,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A2 HGNC ENSG00000163581 82 0 0 92 5 5.15464 PLD1 0 genome.wustl.edu 37 3 171330147 171330147 + Missense_Mutation SNP T T G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 171330147 171330147 T G SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known missense c.2804 p.E935A 1.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 58 0 0 57 10 14.9254 NAALADL2 0 genome.wustl.edu 37 3 174814908 174814908 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 174814908 174814908 C T SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known silent c.372 p.H124 0.729 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 48 0 0 127 12 8.63309 TBL1XR1 0 genome.wustl.edu 37 3 176769374 176769374 + Silent SNP T T G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 176769374 176769374 T G SNP TBL1XR1 ENST00000430069 human ensembl 74_37 -1 known silent c.345 p.A115 0.596 NULL pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1XR1 HGNC ENSG00000177565 68 0 0 86 6 6.52174 SOX2 0 genome.wustl.edu 37 3 181430501 181430501 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 181430501 181430501 C T SNP SOX2 ENST00000325404 human ensembl 74_37 +1 known missense c.353 p.T118M 1.000 pfam_TF_SOX pfam_TF_SOX,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX2 HGNC ENSG00000181449 26 0 0 17 4 19.0476 EIF4G1 0 genome.wustl.edu 37 3 184041274 184041274 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 184041274 184041274 G A SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known missense c.2188 p.E730K 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 233 2 0.851064 177 29 14.0777 NEK10 0 genome.wustl.edu 37 3 27216147 27216147 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 27216147 27216147 C T SNP NEK10 ENST00000383771 human ensembl 74_37 -1 known missense c.619 p.E207K 0.830 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors NEK10 HGNC ENSG00000163491 135 0 0 173 11 5.97826 CCR4 0 genome.wustl.edu 37 3 32995136 32995136 + Silent SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 32995136 32995136 T C SNP CCR4 ENST00000330953 human ensembl 74_37 +1 known silent c.222 p.T74 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt - no_errors CCR4 HGNC ENSG00000183813 122 0 0 88 9 9.27835 TRAK1 0 genome.wustl.edu 37 3 42251455 42251455 + Silent SNP A A C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 42251455 42251455 A C SNP TRAK1 ENST00000396175 human ensembl 74_37 +1 known silent c.1767 p.P589 0.997 NULL pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 108 0 0 77 5 6.09756 SCAP 0 genome.wustl.edu 37 3 47455441 47455441 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 47455441 47455441 C T SNP SCAP ENST00000265565 human ensembl 74_37 -1 known missense c.3743 p.R1248H 1.000 NULL pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SCAP HGNC ENSG00000114650 327 1 0.304878 276 19 6.44068 CELSR3 0 genome.wustl.edu 37 3 48697911 48697911 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 48697911 48697911 C T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known silent c.2157 p.V719 0.932 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 87 0 0 55 5 8.33333 RHOA 0 genome.wustl.edu 37 3 49412973 49412973 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 49412973 49412973 C T SNP RHOA ENST00000418115 human ensembl 74_37 -1 known missense c.50 p.G17E 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 101 0 0 84 11 11.5789 BSN 0 genome.wustl.edu 37 3 49699948 49699948 + Missense_Mutation SNP A A C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 49699948 49699948 A C SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.10670 p.E3557A 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 61 0 0 72 6 7.69231 RPL29 0 genome.wustl.edu 37 3 52027925 52027925 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 52027925 52027925 C T SNP RPL29 ENST00000294189 human ensembl 74_37 -1 known missense c.320 p.R107H 0.901 NULL pfam_Ribosomal_L29e - no_errors RPL29 HGNC ENSG00000162244 106 0 0 65 27 29.3478 ITIH1 0 genome.wustl.edu 37 3 52824844 52824844 + Nonsense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 52824844 52824844 C T SNP ITIH1 ENST00000273283 human ensembl 74_37 +1 known nonsense c.2401 p.R801* 0.970 pfam_ITI_HC_C,superfamily_PsdUridine_synth_cat_dom pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 219 0 0 160 13 7.51445 CACNA1D 0 genome.wustl.edu 37 3 53694302 53694302 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 53694302 53694302 A G SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.766 p.S256G 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 44 0 0 44 3 6.38298 CACNA2D3 0 genome.wustl.edu 37 3 54925416 54925416 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 54925416 54925416 G A SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.2185 p.G729S 0.999 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 46 0 0 44 4 8.33333 KBTBD8 0 genome.wustl.edu 37 3 67058348 67058348 + Nonsense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 67058348 67058348 G T SNP KBTBD8 ENST00000417314 human ensembl 74_37 +1 known nonsense c.1345 p.E449* 1.000 pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD8 HGNC ENSG00000163376 41 0 0 43 5 10.4167 SHQ1 0 genome.wustl.edu 37 3 72881554 72881554 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 72881554 72881554 C T SNP SHQ1 ENST00000325599 human ensembl 74_37 -1 known missense c.565 p.A189T 1.000 NULL pfam_SHQ1,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors SHQ1 HGNC ENSG00000144736 84 0 0 79 14 15.0538 CADM2 0 genome.wustl.edu 37 3 86114782 86114782 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 86114782 86114782 G A SNP CADM2 ENST00000405615 human ensembl 74_37 +1 known missense c.1097 p.G366D 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM2 HGNC ENSG00000175161 33 0 0 57 6 9.52381 OR5H2 0 genome.wustl.edu 37 3 98001800 98001800 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 98001800 98001800 A G SNP OR5H2 ENST00000355273 human ensembl 74_37 +1 known silent c.69 p.T23 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H2 HGNC ENSG00000197938 192 0 0 227 33 12.6923 GPR15 0 genome.wustl.edu 37 3 98251069 98251069 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 98251069 98251069 C T SNP GPR15 ENST00000284311 human ensembl 74_37 +1 known silent c.192 p.S64 0.964 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors GPR15 HGNC ENSG00000154165 50 0 0 56 5 8.19672 CRELD1 0 genome.wustl.edu 37 3 9982596 9982596 + Nonsense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 9982596 9982596 C T SNP CRELD1 ENST00000326434 human ensembl 74_37 +1 known nonsense c.523 p.R175* 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors CRELD1 HGNC ENSG00000163703 56 0 0 50 10 16.6667 KIAA1109 0 genome.wustl.edu 37 4 123147974 123147974 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 123147974 123147974 G A SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.2906 p.R969Q 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 51 0 0 64 9 12.3288 ADAD1 0 genome.wustl.edu 37 4 123329116 123329116 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 123329116 123329116 G A SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known missense c.778 p.D260N 0.920 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 59 0 0 67 8 10.6667 FAT4 0 genome.wustl.edu 37 4 126238488 126238488 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 126238488 126238488 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.922 p.R308W 0.502 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 23 0 0 44 3 6.38298 FAT4 0 genome.wustl.edu 37 4 126239459 126239459 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 126239459 126239459 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.1893 p.S631 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 49 0 0 48 8 14.2857 PCDH10 0 genome.wustl.edu 37 4 134084242 134084242 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 134084242 134084242 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.2908 p.R970C 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 65 0 0 86 7 7.52688 UVSSA 0 genome.wustl.edu 37 4 1348597 1348597 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 1348597 1348597 C T SNP UVSSA ENST00000389851 human ensembl 74_37 +1 known missense c.1009 p.R337W 0.449 NULL pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 28 0 0 20 4 16.6667 INPP4B 0 genome.wustl.edu 37 4 143094958 143094958 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 143094958 143094958 C T SNP INPP4B ENST00000509777 human ensembl 74_37 -1 known missense c.1186 p.G396R 1.000 NULL superfamily_C2_dom - no_errors INPP4B HGNC ENSG00000109452 36 0 0 83 6 6.74157 USP38 0 genome.wustl.edu 37 4 144141576 144141576 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 144141576 144141576 A G SNP USP38 ENST00000307017 human ensembl 74_37 +1 known silent c.3096 p.G1032 0.909 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP38 HGNC ENSG00000170185 28 0 0 45 3 6.25 CPEB2 0 genome.wustl.edu 37 4 15054040 15054040 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 15054040 15054040 C T SNP CPEB2 ENST00000538197 human ensembl 74_37 +1 known missense c.2203 p.R735C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 63 0 0 92 9 8.91089 FBXW7 0 genome.wustl.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 153249385 153249385 G A SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1393 p.R465C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 105 0 0 139 14 9.15033 FHDC1 0 genome.wustl.edu 37 4 153896555 153896555 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 153896555 153896555 G T SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known missense c.2112 p.M704I 0.001 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 55 0 0 40 4 9.09091 TRIM2 0 genome.wustl.edu 37 4 154237032 154237032 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 154237032 154237032 C T SNP TRIM2 ENST00000338700 human ensembl 74_37 +1 known missense c.1663 p.R555C 0.870 pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC ENSG00000109654 128 0 0 72 18 20 ADAM29 0 genome.wustl.edu 37 4 175898318 175898318 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 175898318 175898318 G T SNP ADAM29 ENST00000359240 human ensembl 74_37 +1 known missense c.1642 p.D548Y 0.010 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 101 0 0 120 19 13.6691 SPATA4 0 genome.wustl.edu 37 4 177116689 177116689 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 177116689 177116689 C A SNP SPATA4 ENST00000280191 human ensembl 74_37 -1 known missense c.25 p.G9W 0.000 NULL pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors SPATA4 HGNC ENSG00000150628 60 0 0 51 5 8.92857 WWC2 0 genome.wustl.edu 37 4 184175073 184175073 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 184175073 184175073 C T SNP WWC2 ENST00000448232 human ensembl 74_37 +1 known missense c.1117 p.R373C 0.018 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC2 HGNC ENSG00000151718 28 0 0 24 9 27.2727 GABRA2 0 genome.wustl.edu 37 4 46388118 46388118 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 46388118 46388118 C T SNP GABRA2 ENST00000356504 human ensembl 74_37 -1 known missense c.160 p.D54N 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 46 0 0 32 3 8.57143 SLAIN2 0 genome.wustl.edu 37 4 48422433 48422433 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 48422433 48422433 G A SNP SLAIN2 ENST00000264313 human ensembl 74_37 +1 known missense c.1652 p.R551H 1.000 NULL NULL - no_errors SLAIN2 HGNC ENSG00000109171 102 0 0 79 11 12.2222 KIAA1211 0 genome.wustl.edu 37 4 57182333 57182333 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 57182333 57182333 G A SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.2665 p.A889T 0.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 37 0 0 24 3 11.1111 HTN1 0 genome.wustl.edu 37 4 70920041 70920041 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 70920041 70920041 C T SNP HTN1 ENST00000246896 human ensembl 74_37 +1 known silent c.54 p.S18 0.045 NULL NULL - no_errors HTN1 HGNC ENSG00000126550 21 0 0 26 3 10.3448 ADAMTS3 0 genome.wustl.edu 37 4 73414336 73414336 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 73414336 73414336 G A SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known silent c.363 p.T121 0.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 133 0 0 112 17 13.1783 BMP2K 0 genome.wustl.edu 37 4 79792163 79792163 + Missense_Mutation SNP G G C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 79792163 79792163 G C SNP BMP2K ENST00000335016 human ensembl 74_37 +1 known missense c.1458 p.Q486H 0.906 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 BMP2K HGNC ENSG00000138756 39 0 0 43 5 10.4167 AFF1 0 genome.wustl.edu 37 4 87968290 87968290 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 87968290 87968290 A G SNP AFF1 ENST00000395146 human ensembl 74_37 +1 known silent c.603 p.P201 0.001 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 146 0 0 111 14 11.2 GAK 0 genome.wustl.edu 37 4 906522 906522 + Splice_Site SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 906522 906522 C T SNP GAK ENST00000314167 human ensembl 74_37 -1 known splice_site c.267+1 e3+1 1.000 - - - no_errors GAK HGNC ENSG00000178950 53 0 0 33 5 13.1579 SMARCAD1 0 genome.wustl.edu 37 4 95129604 95129604 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 95129604 95129604 C T SNP SMARCAD1 ENST00000359052 human ensembl 74_37 +1 known missense c.59 p.A20V 0.472 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 96 0 0 83 11 11.7021 SLCO6A1 0 genome.wustl.edu 37 5 101816044 101816044 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 101816044 101816044 G A SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known silent c.453 p.Y151 0.880 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 75 0 0 88 8 8.33333 EFNA5 0 genome.wustl.edu 37 5 106763050 106763050 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 106763050 106763050 C A SNP EFNA5 ENST00000333274 human ensembl 74_37 -1 known missense c.286 p.G96W 1.000 pfam_Ephrin,superfamily_Cupredoxin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA5 HGNC ENSG00000184349 96 0 0 84 16 16 TERT 0 genome.wustl.edu 37 5 1268637 1268637 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 1268637 1268637 G A SNP TERT ENST00000296820 human ensembl 74_37 -1 known missense c.2398 p.R800W 0.947 pfscan_RVT pfam_Telomerase_RBD,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 35 0 0 26 3 10.3448 TGFBI 0 genome.wustl.edu 37 5 135388731 135388731 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 135388731 135388731 C T SNP TGFBI ENST00000305126 human ensembl 74_37 +1 known missense c.1049 p.A350V 0.984 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC ENSG00000120708 66 0 0 25 3 10.7143 PCDHA2 0 genome.wustl.edu 37 5 140176376 140176376 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 140176376 140176376 C T SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known silent c.1827 p.Y609 0.023 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 PCDHA2 HGNC ENSG00000204969 109 0 0 88 9 9.27835 PCDHA10 0 genome.wustl.edu 37 5 140237092 140237092 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 140237092 140237092 G A SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.1459 p.A487T 0.989 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 170 0 0 145 15 9.375 PCDHB1 0 genome.wustl.edu 37 5 140431352 140431352 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 140431352 140431352 C T SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known silent c.297 p.A99 0.001 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 54 0 0 53 8 13.1148 PCDHB5 0 genome.wustl.edu 37 5 140515665 140515665 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 140515665 140515665 G A SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known missense c.649 p.G217S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 179 0 0 141 11 7.23684 PCDHB11 0 genome.wustl.edu 37 5 140580109 140580109 + Missense_Mutation SNP T T G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 140580109 140580109 T G SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.762 p.N254K 0.013 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 236 0 0 148 34 18.6813 PCDHGA3 0 genome.wustl.edu 37 5 140725805 140725805 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 140725805 140725805 G A SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known silent c.2205 p.T735 0.405 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 113 0 0 95 13 12.037 HDAC3 0 genome.wustl.edu 37 5 141005843 141005843 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 141005843 141005843 C T SNP HDAC3 ENST00000305264 human ensembl 74_37 -1 known missense c.838 p.V280I 1.000 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC3 HGNC ENSG00000171720 32 0 0 22 3 12 TRIO 0 genome.wustl.edu 37 5 14359556 14359556 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 14359556 14359556 G A SNP TRIO ENST00000344204 human ensembl 74_37 +1 known silent c.2307 p.S769 0.168 smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 64 0 0 44 4 8.33333 PPP2R2B 0 genome.wustl.edu 37 5 145969658 145969658 + Missense_Mutation SNP A A C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 145969658 145969658 A C SNP PPP2R2B ENST00000394414 human ensembl 74_37 -1 known missense c.1382 p.V461G 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2B HGNC ENSG00000156475 124 0 0 139 12 7.94702 FBXO38 0 genome.wustl.edu 37 5 147807089 147807089 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 147807089 147807089 G A SNP FBXO38 ENST00000340253 human ensembl 74_37 +1 known silent c.2232 p.V744 0.999 NULL superfamily_F-box_dom - no_errors FBXO38 HGNC ENSG00000145868 53 0 0 41 4 8.88889 HAVCR1 0 genome.wustl.edu 37 5 156479516 156479516 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 156479516 156479516 T C SNP HAVCR1 ENST00000425854 human ensembl 74_37 -1 known missense c.529 p.T177A 0.015 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors HAVCR1 HGNC ENSG00000113249 628 1 0.158983 412 30 6.78733 CLINT1 0 genome.wustl.edu 37 5 157214842 157214842 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 157214842 157214842 C T SNP CLINT1 ENST00000296951 human ensembl 74_37 -1 known missense c.1690 p.A564T 0.999 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors CLINT1 HGNC ENSG00000113282 69 0 0 54 5 8.47458 CCNJL 0 genome.wustl.edu 37 5 159680556 159680556 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 159680556 159680556 G A SNP CCNJL ENST00000393977 human ensembl 74_37 -1 known silent c.1137 p.H379 0.000 NULL pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJL HGNC ENSG00000135083 101 0 0 60 6 9.09091 EIF4E1B 0 genome.wustl.edu 37 5 176070219 176070219 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 176070219 176070219 C T SNP EIF4E1B ENST00000318682 human ensembl 74_37 +1 known missense c.152 p.T51M 0.000 superfamily_TIF_eIF4e-like_dom pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom - no_errors EIF4E1B HGNC ENSG00000175766 71 0 0 55 5 8.33333 NHP2 0 genome.wustl.edu 37 5 177577890 177577890 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 177577890 177577890 G A SNP NHP2 ENST00000274606 human ensembl 74_37 -1 known missense c.335 p.T112M 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7Ae/L8/Nhp2,prints_H/ACA_rnp_Nhp2_euk pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7Ae/L8/Nhp2,prints_H/ACA_rnp_Nhp2_euk - no_errors NHP2 HGNC ENSG00000145912 338 0 0 220 28 11.2903 AACSP1 0 genome.wustl.edu 37 5 178199541 178199541 + RNA SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 178199541 178199541 G T SNP AACSP1 ENST00000503486 human ensembl 74_37 -1 known rna NULL NULL 0.321 - - - no_errors AACSP1 HGNC ENSG00000250420 29 0 0 19 3 13.6364 ZFR 0 genome.wustl.edu 37 5 32395284 32395284 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 32395284 32395284 G A SNP ZFR ENST00000265069 human ensembl 74_37 -1 known missense c.1960 p.R654C 1.000 NULL pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 155 0 0 144 15 9.43396 C5orf42 0 genome.wustl.edu 37 5 37169215 37169215 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 37169215 37169215 G A SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.6911 p.A2304V 1.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 105 0 0 79 8 9.1954 ADAMTS16 0 genome.wustl.edu 37 5 5239334 5239334 + Missense_Mutation SNP A A C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 5239334 5239334 A C SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.2225 p.N742T 1.000 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 154 0 0 99 23 18.8525 CMYA5 0 genome.wustl.edu 37 5 79025504 79025504 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 79025504 79025504 G A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.916 p.A306T 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 87 0 0 60 6 9.09091 LNPEP 0 genome.wustl.edu 37 5 96314863 96314863 + Missense_Mutation SNP A A C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 96314863 96314863 A C SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known missense c.41 p.N14T 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 88 0 0 88 7 7.36842 SIM1 0 genome.wustl.edu 37 6 100901670 100901670 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 100901670 100901670 C T SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known missense c.226 p.V76I 1.000 NULL pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 106 0 0 72 6 7.69231 TRAF3IP2 0 genome.wustl.edu 37 6 111901440 111901440 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 111901440 111901440 C T SNP TRAF3IP2 ENST00000340026 human ensembl 74_37 -1 known missense c.1009 p.A337T 0.000 NULL pfam_SEFIR - no_errors TRAF3IP2 HGNC ENSG00000056972 34 0 0 36 5 12.1951 LAMA4 0 genome.wustl.edu 37 6 112463468 112463468 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 112463468 112463468 G A SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known silent c.2520 p.G840 0.572 pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 80 0 0 77 5 6.09756 HEY2 0 genome.wustl.edu 37 6 126080338 126080338 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 126080338 126080338 G A SNP HEY2 ENST00000368364 human ensembl 74_37 +1 known missense c.404 p.R135Q 1.000 pfam_Orange,smart_Orange_subgr,pfscan_Orange pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom,prints_Antifreeze_1 - no_errors HEY2 HGNC ENSG00000135547 95 0 0 60 5 7.69231 HEY2 0 genome.wustl.edu 37 6 126080601 126080601 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 126080601 126080601 G A SNP HEY2 ENST00000368364 human ensembl 74_37 +1 known missense c.667 p.G223S 1.000 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom,prints_Antifreeze_1 - no_errors HEY2 HGNC ENSG00000135547 334 1 0.298507 250 21 7.74908 AKAP7 0 genome.wustl.edu 37 6 131540894 131540894 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 131540894 131540894 C T SNP AKAP7 ENST00000368123 human ensembl 74_37 +1 known silent c.730 p.L244 0.107 pfam_Kinase-A_anchor_nucl_local_sig,superfamily_RNA_ligase/cNuc_Pdiesterase pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 60 0 0 43 6 12.2449 BCLAF1 0 genome.wustl.edu 37 6 136582616 136582616 + Splice_Site SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 136582616 136582616 C A SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known splice_site c.2545-1 e10-1 1.000 - - - no_errors BCLAF1 HGNC ENSG00000029363 67 0 0 108 9 7.69231 BCLAF1 0 genome.wustl.edu 37 6 136582617 136582617 + Splice_Site SNP T T A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 136582617 136582617 T A SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known splice_site c.2545-2 e10-2 1.000 - - - no_errors BCLAF1 HGNC ENSG00000029363 68 0 0 105 9 7.89474 MAP7 0 genome.wustl.edu 37 6 136698932 136698932 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 136698932 136698932 C T SNP MAP7 ENST00000454590 human ensembl 74_37 -1 known missense c.778 p.A260T 1.000 NULL pfam_MAP7 - no_errors MAP7 HGNC ENSG00000135525 56 0 0 37 3 7.5 HIVEP2 0 genome.wustl.edu 37 6 143091583 143091583 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 143091583 143091583 G A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known silent c.4293 p.S1431 0.039 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 64 0 0 44 4 8.33333 FUCA2 0 genome.wustl.edu 37 6 143823103 143823103 + Nonsense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 143823103 143823103 G A SNP FUCA2 ENST00000002165 human ensembl 74_37 -1 known nonsense c.1120 p.R374* 0.997 smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub - no_errors FUCA2 HGNC ENSG00000001036 56 0 0 72 6 7.69231 UTRN 0 genome.wustl.edu 37 6 144757114 144757114 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 144757114 144757114 C T SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.899 p.T300I 0.998 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 56 0 0 53 7 11.6667 STXBP5 0 genome.wustl.edu 37 6 147635458 147635458 + Missense_Mutation SNP T T G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 147635458 147635458 T G SNP STXBP5 ENST00000321680 human ensembl 74_37 +1 known missense c.1352 p.I451S 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Lethal2_giant pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 74 0 0 80 14 14.8936 PLEKHG1 0 genome.wustl.edu 37 6 151152245 151152245 + Silent SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 151152245 151152245 T C SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known silent c.1998 p.Y666 0.983 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 51 0 0 42 4 8.69565 CCDC170 0 genome.wustl.edu 37 6 151917593 151917593 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 151917593 151917593 G A SNP CCDC170 ENST00000367290 human ensembl 74_37 +1 known missense c.1591 p.A531T 1.000 superfamily_Prefoldin superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 80 0 0 55 6 9.83607 SYNE1 0 genome.wustl.edu 37 6 152443751 152443751 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 152443751 152443751 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.26214 p.R8738 0.199 pfam_KASH,pfscan_KASH pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 114 0 0 91 21 18.75 SYNE1 0 genome.wustl.edu 37 6 152673328 152673328 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 152673328 152673328 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.11414 p.R3805Q 0.704 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 200 0 0 137 27 16.4634 JARID2 0 genome.wustl.edu 37 6 15496980 15496980 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 15496980 15496980 G A SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known silent c.1524 p.T508 0.110 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 61 0 0 34 2 5.55556 SNX9 0 genome.wustl.edu 37 6 158296187 158296187 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 158296187 158296187 G A SNP SNX9 ENST00000392185 human ensembl 74_37 +1 known silent c.279 p.S93 0.940 pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX9 HGNC ENSG00000130340 59 0 0 45 7 13.4615 SYNJ2 0 genome.wustl.edu 37 6 158516963 158516963 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 158516963 158516963 G A SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known missense c.4058 p.S1353N 0.341 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 70 0 0 41 5 10.8696 TULP4 0 genome.wustl.edu 37 6 158873233 158873233 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 158873233 158873233 G A SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known silent c.792 p.S264 1.000 superfamily_WD40_repeat_dom pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 67 0 0 48 4 7.69231 PNLDC1 0 genome.wustl.edu 37 6 160225038 160225038 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 160225038 160225038 C T SNP PNLDC1 ENST00000610273 human ensembl 74_37 +1 known missense c.257 p.T86M 0.090 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC ENSG00000146453 147 0 0 106 8 7.01754 BTN2A2 0 genome.wustl.edu 37 6 26390936 26390936 + Splice_Site SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 26390936 26390936 G A SNP BTN2A2 ENST00000356709 human ensembl 74_37 +1 known splice_site c.952+1 e5+1 0.969 - - - no_errors BTN2A2 HGNC ENSG00000124508 132 0 0 89 25 21.9298 ZSCAN31 0 genome.wustl.edu 37 6 28294178 28294178 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 28294178 28294178 C A SNP ZSCAN31 ENST00000344279 human ensembl 74_37 -1 known missense c.986 p.G329V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN31 HGNC ENSG00000235109 242 0 0 164 18 9.89011 GPX5 0 genome.wustl.edu 37 6 28497328 28497328 + Missense_Mutation SNP A A T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 28497328 28497328 A T SNP GPX5 ENST00000412168 human ensembl 74_37 +1 known missense c.188 p.H63L 0.384 pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase - no_errors GPX5 HGNC ENSG00000224586 81 0 0 66 5 7.04225 FLOT1 0 genome.wustl.edu 37 6 30709013 30709013 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 30709013 30709013 G A SNP FLOT1 ENST00000376389 human ensembl 74_37 -1 known missense c.308 p.T103M 1.000 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7 - no_errors FLOT1 HGNC ENSG00000137312 136 0 0 63 6 8.69565 PRRC2A 0 genome.wustl.edu 37 6 31604191 31604191 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 31604191 31604191 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.5830 p.L1944F 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 111 0 0 79 5 5.95238 ABHD16A 0 genome.wustl.edu 37 6 31656035 31656035 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 31656035 31656035 A G SNP ABHD16A ENST00000395952 human ensembl 74_37 -1 known missense c.1298 p.I433T 1.000 NULL pfam_AB_hydrolase_1 - no_errors ABHD16A HGNC ENSG00000204427 114 0 0 75 8 9.63855 CLIC1 0 genome.wustl.edu 37 6 31698703 31698703 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 31698703 31698703 G A SNP CLIC1 ENST00000375779 human ensembl 74_37 -1 known silent c.642 p.Y214 1.000 superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC1 HGNC ENSG00000213719 50 0 0 30 6 16.6667 HSPA1A 0 genome.wustl.edu 37 6 31783643 31783643 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 31783643 31783643 C T SNP HSPA1A ENST00000375651 human ensembl 74_37 +1 known missense c.110 p.T37I 1.000 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1A HGNC ENSG00000204389 47 0 0 30 7 18.9189 HSPA1A 0 genome.wustl.edu 37 6 31785384 31785384 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 31785384 31785384 C T SNP HSPA1A ENST00000375651 human ensembl 74_37 +1 known silent c.1851 p.P617 0.000 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1A HGNC ENSG00000204389 128 0 0 76 7 8.43373 TAPSAR1 0 genome.wustl.edu 37 6 32812038 32812038 + RNA SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 32812038 32812038 G T SNP TAPSAR1 ENST00000412095 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TAPSAR1 HGNC ENSG00000204261 25 0 0 19 4 17.3913 ITPR3 0 genome.wustl.edu 37 6 33657074 33657074 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 33657074 33657074 G T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.6754 p.A2252S 0.002 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 147 0 0 94 8 7.84314 ENSG00000269490 0 genome.wustl.edu 37 6 33663406 33663406 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 33663406 33663406 G A SNP ENSG00000269490 ENST00000594414 human ensembl 74_37 -1 novel silent c.69 p.P23 0.005 NULL NULL - no_errors SBP1 Uniprot_gn ENSG00000269490 65 0 0 51 5 8.92857 UHRF1BP1 0 genome.wustl.edu 37 6 34826502 34826502 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 34826502 34826502 T C SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known missense c.2369 p.V790A 0.752 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 183 0 0 136 13 8.72483 MAPK13 0 genome.wustl.edu 37 6 36106833 36106833 + Splice_Site SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 36106833 36106833 G A SNP MAPK13 ENST00000211287 human ensembl 74_37 +1 known splice_site c.1018+1 e11+1 1.000 - - - no_errors MAPK13 HGNC ENSG00000156711 40 0 0 22 4 15.3846 PRPH2 0 genome.wustl.edu 37 6 42666224 42666224 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 42666224 42666224 G A SNP PRPH2 ENST00000230381 human ensembl 74_37 -1 known missense c.850 p.R284C 1.000 pfam_Tetraspanin/Peripherin,prints_Peripherin/rom-1 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors PRPH2 HGNC ENSG00000112619 48 0 0 36 7 16.2791 MRPL2 0 genome.wustl.edu 37 6 43022174 43022174 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 43022174 43022174 A G SNP MRPL2 ENST00000388752 human ensembl 74_37 -1 known silent c.756 p.H252 1.000 pfam_Ribosomal_L2_C,superfamily_Translation_prot_SH3-like pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold - no_errors MRPL2 HGNC ENSG00000112651 61 0 0 47 8 14.5455 RHAG 0 genome.wustl.edu 37 6 49578748 49578748 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 49578748 49578748 G A SNP RHAG ENST00000371175 human ensembl 74_37 -1 known silent c.1056 p.G352 0.005 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHAG HGNC ENSG00000112077 53 0 0 62 6 8.82353 DST 0 genome.wustl.edu 37 6 56481980 56481980 + Silent SNP A A C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 56481980 56481980 A C SNP DST ENST00000370765 human ensembl 74_37 -1 known silent c.6285 p.T2095 0.000 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 71 0 0 107 12 10.084 DDX43 0 genome.wustl.edu 37 6 74124393 74124393 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 74124393 74124393 C T SNP DDX43 ENST00000370336 human ensembl 74_37 +1 known missense c.1729 p.R577C 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,superfamily_P-loop_NTPase,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX43 HGNC ENSG00000080007 111 0 0 59 4 6.34921 COL12A1 0 genome.wustl.edu 37 6 75827179 75827179 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 75827179 75827179 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.7438 p.V2480M 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 59 0 0 64 8 11.1111 FILIP1 0 genome.wustl.edu 37 6 76022525 76022525 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 76022525 76022525 T C SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known missense c.3023 p.Q1008R 1.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 137 0 0 114 9 7.31707 TTK 0 genome.wustl.edu 37 6 80723018 80723018 + Nonsense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 80723018 80723018 C T SNP TTK ENST00000369798 human ensembl 74_37 +1 known nonsense c.919 p.R307* 0.987 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 TTK HGNC ENSG00000112742 112 0 0 144 11 7.09677 KIAA1009 0 genome.wustl.edu 37 6 84865121 84865121 + Missense_Mutation SNP A A T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 84865121 84865121 A T SNP KIAA1009 ENST00000403245 human ensembl 74_37 -1 known missense c.2890 p.F964I 1.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 62 0 0 57 6 9.52381 C6orf165 0 genome.wustl.edu 37 6 88125515 88125515 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 88125515 88125515 G A SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known missense c.395 p.R132Q 1.000 NULL pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 56 0 0 65 4 5.7971 MDN1 0 genome.wustl.edu 37 6 90422427 90422427 + Nonsense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 90422427 90422427 C A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known nonsense c.7297 p.G2433* 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 89 0 0 82 10 10.8696 CCNC 0 genome.wustl.edu 37 6 99993014 99993014 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 99993014 99993014 C T SNP CCNC ENST00000520429 human ensembl 74_37 -1 known missense c.771 p.M257I 1.000 superfamily_Cyclin-like,pirsf_CyclinC pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC - no_errors CCNC HGNC ENSG00000112237 40 0 0 40 3 6.97674 LRCH4 0 genome.wustl.edu 37 7 100179467 100179467 + Silent SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 100179467 100179467 T C SNP LRCH4 ENST00000310300 human ensembl 74_37 -1 known silent c.531 p.E177 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH4 HGNC ENSG00000077454 49 0 0 45 7 13.4615 ZAN 0 genome.wustl.edu 37 7 100358059 100358059 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 100358059 100358059 G A SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.3742 p.V1248I 0.018 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 103 0 0 65 12 15.5844 MUC17 0 genome.wustl.edu 37 7 100678207 100678207 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 100678207 100678207 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.3510 p.T1170 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 521 0 0 375 28 6.94789 CUX1 0 genome.wustl.edu 37 7 101559408 101559408 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 101559408 101559408 C T SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known missense c.77 p.A26V 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 247 0 0 148 16 9.7561 DOCK4 0 genome.wustl.edu 37 7 111386404 111386404 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 111386404 111386404 G A SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known silent c.4663 p.L1555 1.000 pfam_DOCK_C 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 29 0 0 12 3 20 PPP1R3A 0 genome.wustl.edu 37 7 113518466 113518466 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 113518466 113518466 G A SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.2681 p.S894L 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 43 0 0 91 8 8.08081 RNF133 0 genome.wustl.edu 37 7 122338188 122338188 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 122338188 122338188 C T SNP RNF133 ENST00000340112 human ensembl 74_37 -1 known missense c.785 p.R262H 0.151 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF133 HGNC ENSG00000188050 94 0 0 104 8 7.14286 SLC13A1 0 genome.wustl.edu 37 7 122763254 122763254 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 122763254 122763254 C T SNP SLC13A1 ENST00000194130 human ensembl 74_37 -1 known missense c.1276 p.E426K 1.000 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 47 0 0 52 7 11.8644 SND1 0 genome.wustl.edu 37 7 127721553 127721553 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 127721553 127721553 G A SNP SND1 ENST00000354725 human ensembl 74_37 +1 known missense c.2110 p.G704S 1.000 pfam_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 42 0 0 22 3 12 NUP205 0 genome.wustl.edu 37 7 135263559 135263559 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 135263559 135263559 G A SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known missense c.938 p.R313H 1.000 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 70 0 0 64 9 12.3288 CHRM2 0 genome.wustl.edu 37 7 136699719 136699719 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 136699719 136699719 T C SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.107 p.V36A 1.000 prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 77 0 0 67 13 16.25 MGAM 0 genome.wustl.edu 37 7 141766492 141766492 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 141766492 141766492 C T SNP MGAM ENST00000475668 human ensembl 74_37 +1 putative silent c.4890 p.G1630 0.718 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 156 0 0 137 11 7.43243 OR2A25 0 genome.wustl.edu 37 7 143771747 143771747 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 143771747 143771747 G A SNP OR2A25 ENST00000408898 human ensembl 74_37 +1 known silent c.435 p.L145 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A25 HGNC ENSG00000221933 118 0 0 117 14 10.687 CNTNAP2 0 genome.wustl.edu 37 7 147092865 147092865 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 147092865 147092865 A G SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.1663 p.I555V 1.000 pfscan_EG-like_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 67 0 0 99 6 5.71429 ZNF467 0 genome.wustl.edu 37 7 149462850 149462850 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 149462850 149462850 C T SNP ZNF467 ENST00000302017 human ensembl 74_37 -1 known silent c.741 p.A247 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 26 0 0 10 3 23.0769 ZNF862 0 genome.wustl.edu 37 7 149557637 149557637 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 149557637 149557637 G A SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known missense c.1388 p.R463H 0.985 smart_Znf_TTF pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 168 1 0.591716 94 11 10.4762 DPP6 0 genome.wustl.edu 37 7 154379718 154379718 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 154379718 154379718 A G SNP DPP6 ENST00000406326 human ensembl 74_37 +1 putative missense c.986 p.E329G 0.001 NULL NULL - no_errors DPP6 HGNC ENSG00000130226 108 0 0 74 8 9.7561 EN2 0 genome.wustl.edu 37 7 155251746 155251746 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 155251746 155251746 G A SNP EN2 ENST00000297375 human ensembl 74_37 +1 known missense c.674 p.R225Q 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa - no_errors EN2 HGNC ENSG00000164778 12 0 0 10 4 28.5714 RBM33 0 genome.wustl.edu 37 7 155473489 155473489 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 155473489 155473489 G A SNP RBM33 ENST00000401878 human ensembl 74_37 +1 known missense c.454 p.E152K 0.041 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 32 0 0 30 6 16.6667 DNAH11 0 genome.wustl.edu 37 7 21939611 21939611 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 21939611 21939611 G A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known silent c.13197 p.T4399 0.958 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 45 0 0 27 4 12.9032 C7orf31 0 genome.wustl.edu 37 7 25182374 25182374 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 25182374 25182374 G A SNP C7orf31 ENST00000283905 human ensembl 74_37 -1 known silent c.744 p.F248 0.889 NULL NULL - no_errors C7orf31 HGNC ENSG00000153790 95 0 0 81 16 16.4948 IQCE 0 genome.wustl.edu 37 7 2611882 2611882 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 2611882 2611882 G A SNP IQCE ENST00000402050 human ensembl 74_37 +1 known missense c.316 p.V106I 0.863 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCE HGNC ENSG00000106012 97 0 0 50 17 25.3731 POU6F2 0 genome.wustl.edu 37 7 39504052 39504052 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 39504052 39504052 A G SNP POU6F2 ENST00000403058 human ensembl 74_37 +1 known missense c.1843 p.T615A 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 24 0 0 22 4 15.3846 URGCP 0 genome.wustl.edu 37 7 43916855 43916855 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 43916855 43916855 G A SNP URGCP ENST00000453200 human ensembl 74_37 -1 known missense c.2207 p.A736V 0.099 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 64 0 0 36 2 5.26316 IKZF1 0 genome.wustl.edu 37 7 50468286 50468286 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 50468286 50468286 G A SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known silent c.1521 p.S507 0.942 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 30 0 0 26 6 18.75 PCLO 0 genome.wustl.edu 37 7 82586142 82586142 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 82586142 82586142 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.4127 p.E1376G 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 44 0 0 27 7 20.5882 ABCB1 0 genome.wustl.edu 37 7 87160719 87160719 + Missense_Mutation SNP A A C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 87160719 87160719 A C SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.2576 p.L859R 0.999 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 116 0 0 98 15 13.2743 ZNF804B 0 genome.wustl.edu 37 7 88964976 88964976 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 88964976 88964976 G A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.2680 p.G894R 0.001 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 40 0 0 92 6 6.12245 TMEM130 0 genome.wustl.edu 37 7 98460917 98460917 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 98460917 98460917 G A SNP TMEM130 ENST00000416379 human ensembl 74_37 -1 known silent c.192 p.P64 0.016 NULL superfamily_PKD_dom,pfscan_PKD_dom - no_errors TMEM130 HGNC ENSG00000166448 53 0 0 21 5 19.2308 VPS13B 0 genome.wustl.edu 37 8 100883725 100883725 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 100883725 100883725 G A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.11620 p.V3874M 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 151 0 0 109 19 14.8438 VPS13B 0 genome.wustl.edu 37 8 100883773 100883773 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 100883773 100883773 C T SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known silent c.11668 p.L3890 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 145 0 0 130 14 9.72222 CSMD3 0 genome.wustl.edu 37 8 113516058 113516058 + Nonsense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 113516058 113516058 C A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known nonsense c.5044 p.G1682* 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 CSMD3 HGNC ENSG00000164796 52 0 0 75 5 6.25 NOV 0 genome.wustl.edu 37 8 120430438 120430438 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 120430438 120430438 C T SNP NOV ENST00000259526 human ensembl 74_37 +1 known missense c.451 p.P151S 1.000 pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C pfam_IGFBP-like,pfam_Cys_knot,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors NOV HGNC ENSG00000136999 81 0 0 93 6 6.06061 FAM135B 0 genome.wustl.edu 37 8 139164494 139164494 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 139164494 139164494 C T SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.2224 p.G742S 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 47 0 0 63 4 5.97015 SLC45A4 0 genome.wustl.edu 37 8 142228256 142228256 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 142228256 142228256 G A SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known missense c.1483 p.R495C 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 39 0 0 29 5 14.7059 NAPRT1 0 genome.wustl.edu 37 8 144658644 144658644 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 144658644 144658644 T C SNP NAPRT1 ENST00000276844 human ensembl 74_37 -1 known missense c.980 p.Q327R 1.000 pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB - no_errors NAPRT1 HGNC ENSG00000147813 37 0 0 35 5 12.5 PLEC 0 genome.wustl.edu 37 8 144997429 144997429 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 144997429 144997429 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.7079 p.R2360H 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 36 0 0 26 6 18.75 HSF1 0 genome.wustl.edu 37 8 145535422 145535422 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 145535422 145535422 G A SNP HSF1 ENST00000528838 human ensembl 74_37 +1 known missense c.760 p.A254T 0.080 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 58 0 0 46 4 8 TONSL 0 genome.wustl.edu 37 8 145661198 145661198 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 145661198 145661198 C T SNP TONSL ENST00000409379 human ensembl 74_37 -1 known missense c.2618 p.R873H 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 111 1 0.892857 68 22 24.4444 GPT 0 genome.wustl.edu 37 8 145730163 145730163 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 145730163 145730163 C A SNP GPT ENST00000394955 human ensembl 74_37 +1 known missense c.262 p.L88I 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors GPT HGNC ENSG00000167701 338 0 0 273 22 7.45763 DLGAP2 0 genome.wustl.edu 37 8 1626408 1626408 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 1626408 1626408 G A SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.2077 p.V693I 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 60 0 0 61 8 11.5942 ARHGEF10 0 genome.wustl.edu 37 8 1871717 1871717 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 1871717 1871717 G A SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known silent c.2418 p.A806 0.830 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 128 0 0 107 7 6.14035 PSD3 0 genome.wustl.edu 37 8 18729842 18729842 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 18729842 18729842 G A SNP PSD3 ENST00000440756 human ensembl 74_37 -1 known missense c.532 p.R178C 0.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 107 0 0 126 13 9.35252 CCAR2 0 genome.wustl.edu 37 8 22476454 22476454 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 22476454 22476454 T C SNP CCAR2 ENST00000308511 human ensembl 74_37 +1 known missense c.2447 p.L816P 1.000 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 204 0 0 160 10 5.88235 ADAM28 0 genome.wustl.edu 37 8 24188772 24188772 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 24188772 24188772 A G SNP ADAM28 ENST00000265769 human ensembl 74_37 +1 known missense c.1213 p.I405V 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 43 0 0 82 8 8.88889 ADAMDEC1 0 genome.wustl.edu 37 8 24249886 24249886 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 24249886 24249886 G A SNP ADAMDEC1 ENST00000256412 human ensembl 74_37 +1 known missense c.200 p.G67D 0.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAMDEC1 HGNC ENSG00000134028 27 0 0 47 3 6 EPHX2 0 genome.wustl.edu 37 8 27373847 27373847 + Missense_Mutation SNP T T A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 27373847 27373847 T A SNP EPHX2 ENST00000521400 human ensembl 74_37 +1 known missense c.842 p.L281Q 1.000 prints_Epox_hydrolase-like pfam_AB_hydrolase_1,pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Epox_hydrolase-like,prints_HAD-SF_hydro_IA,prints_AB_hydrolase_1,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors EPHX2 HGNC ENSG00000120915 299 0 0 273 44 13.8801 ELP3 0 genome.wustl.edu 37 8 27995410 27995410 + Splice_Site SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 27995410 27995410 T C SNP ELP3 ENST00000256398 human ensembl 74_37 +1 known splice_site c.1100+2 e10+2 1.000 - - - no_errors ELP3 HGNC ENSG00000134014 32 0 0 27 5 15.625 WRN 0 genome.wustl.edu 37 8 30924662 30924662 + Silent SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 30924662 30924662 T C SNP WRN ENST00000298139 human ensembl 74_37 +1 known silent c.618 p.T206 0.985 pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 71 0 0 76 7 8.43373 CSMD1 0 genome.wustl.edu 37 8 3263606 3263606 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 3263606 3263606 T C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.2212 p.T738A 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 CSMD1 HGNC ENSG00000183117 43 0 0 38 3 7.31707 GPR124 0 genome.wustl.edu 37 8 37696570 37696570 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 37696570 37696570 G A SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known missense c.2356 p.A786T 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 30 0 0 27 3 10 ANK1 0 genome.wustl.edu 37 8 41550383 41550383 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 41550383 41550383 G A SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.3641 p.S1214L 0.998 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 192 0 0 134 9 6.29371 PLAT 0 genome.wustl.edu 37 8 42039487 42039487 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 42039487 42039487 A G SNP PLAT ENST00000220809 human ensembl 74_37 -1 known missense c.857 p.L286P 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Peptidase_S1,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PLAT HGNC ENSG00000104368 32 0 0 33 4 10.8108 HOOK3 0 genome.wustl.edu 37 8 42828542 42828542 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 42828542 42828542 C T SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known silent c.1233 p.D411 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 27 0 0 25 5 16.6667 SPIDR 0 genome.wustl.edu 37 8 48625311 48625311 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 48625311 48625311 A G SNP SPIDR ENST00000297423 human ensembl 74_37 +1 known missense c.2065 p.R689G 0.000 NULL NULL - no_errors SPIDR HGNC ENSG00000164808 110 0 0 99 10 9.17431 EFCAB1 0 genome.wustl.edu 37 8 49647703 49647703 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 49647703 49647703 C T SNP EFCAB1 ENST00000262103 human ensembl 74_37 -1 known missense c.8 p.R3H 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors EFCAB1 HGNC ENSG00000034239 83 0 0 126 12 8.69565 TGS1 0 genome.wustl.edu 37 8 56698904 56698904 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 56698904 56698904 C T SNP TGS1 ENST00000260129 human ensembl 74_37 +1 known silent c.447 p.D149 0.009 NULL pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TGS1 HGNC ENSG00000137574 39 0 0 48 4 7.69231 CHD7 0 genome.wustl.edu 37 8 61655342 61655342 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 61655342 61655342 G A SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.1351 p.G451S 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 67 0 0 43 9 17.3077 ADHFE1 0 genome.wustl.edu 37 8 67352398 67352398 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 67352398 67352398 T C SNP ADHFE1 ENST00000396623 human ensembl 74_37 +1 known missense c.61 p.C21R 1.000 NULL pfam_ADH_Fe - no_errors ADHFE1 HGNC ENSG00000147576 145 1 0.684932 126 15 10.6383 COPS5 0 genome.wustl.edu 37 8 67955532 67955532 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 67955532 67955532 G T SNP COPS5 ENST00000357849 human ensembl 74_37 -1 known missense c.941 p.A314D 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors COPS5 HGNC ENSG00000121022 35 0 0 33 3 8.33333 ARFGEF1 0 genome.wustl.edu 37 8 68204129 68204129 + Missense_Mutation SNP C C G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 68204129 68204129 C G SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.869 p.S290T 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 110 0 0 160 15 8.57143 XKR9 0 genome.wustl.edu 37 8 71646526 71646526 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 71646526 71646526 T C SNP XKR9 ENST00000408926 human ensembl 74_37 +1 known missense c.989 p.L330P 0.015 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR9 HGNC ENSG00000221947 42 0 0 34 10 22.7273 TERF1 0 genome.wustl.edu 37 8 73958323 73958323 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 73958323 73958323 G T SNP TERF1 ENST00000276603 human ensembl 74_37 +1 known missense c.1271 p.W424L 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC ENSG00000147601 76 0 0 74 11 12.9412 RDH10 0 genome.wustl.edu 37 8 74209656 74209656 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 74209656 74209656 C T SNP RDH10 ENST00000240285 human ensembl 74_37 +1 known missense c.517 p.H173Y 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH10 HGNC ENSG00000121039 74 0 0 88 7 7.36842 ZC2HC1A 0 genome.wustl.edu 37 8 79629711 79629711 + Nonsense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 79629711 79629711 C T SNP ZC2HC1A ENST00000263849 human ensembl 74_37 +1 known nonsense c.961 p.R321* 1.000 NULL NULL - no_errors ZC2HC1A HGNC ENSG00000104427 73 0 0 133 9 6.33803 SLC26A7 0 genome.wustl.edu 37 8 92346557 92346557 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 92346557 92346557 T C SNP SLC26A7 ENST00000309536 human ensembl 74_37 +1 known missense c.677 p.V226A 0.934 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 62 0 0 72 10 12.1951 MTERFD1 0 genome.wustl.edu 37 8 97269296 97269296 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 97269296 97269296 C A SNP MTERFD1 ENST00000287025 human ensembl 74_37 -1 known missense c.381 p.E127D 1.000 NULL pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD1 HGNC ENSG00000156469 54 0 0 66 7 9.58904 TEX10 0 genome.wustl.edu 37 9 103065973 103065973 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 103065973 103065973 G T SNP TEX10 ENST00000374902 human ensembl 74_37 -1 known missense c.2617 p.L873I 0.999 NULL pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 249 0 0 187 19 9.2233 PTPN3 0 genome.wustl.edu 37 9 112216842 112216842 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 112216842 112216842 C T SNP PTPN3 ENST00000374541 human ensembl 74_37 -1 known missense c.302 p.C101Y 1.000 pfam_FERM_N,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Ez/rad/moesin_like,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 132 0 0 89 7 7.29167 C9orf84 0 genome.wustl.edu 37 9 114508553 114508553 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 114508553 114508553 G A SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known missense c.848 p.T283I 0.002 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 54 0 0 68 6 8.10811 COL27A1 0 genome.wustl.edu 37 9 116973274 116973274 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 116973274 116973274 G A SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.2335 p.V779I 0.951 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 75 0 0 52 6 10.3448 TLR4 0 genome.wustl.edu 37 9 120476352 120476352 + Missense_Mutation SNP T T G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 120476352 120476352 T G SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.1946 p.V649G 0.026 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 34 0 0 48 7 12.7273 TTLL11 0 genome.wustl.edu 37 9 124751771 124751771 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 124751771 124751771 G A SNP TTLL11 ENST00000321582 human ensembl 74_37 -1 known silent c.1242 p.T414 0.016 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL11 HGNC ENSG00000175764 97 0 0 78 8 9.30233 OR5C1 0 genome.wustl.edu 37 9 125551964 125551964 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 125551964 125551964 C T SNP OR5C1 ENST00000373680 human ensembl 74_37 +1 known silent c.753 p.A251 0.857 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5C1 HGNC ENSG00000148215 93 0 0 62 6 8.82353 RABGAP1 0 genome.wustl.edu 37 9 125863866 125863866 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 125863866 125863866 C T SNP RABGAP1 ENST00000373647 human ensembl 74_37 +1 known missense c.2911 p.R971W 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 50 0 0 45 4 8.16327 GOLGA1 0 genome.wustl.edu 37 9 127651570 127651570 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 127651570 127651570 G A SNP GOLGA1 ENST00000373555 human ensembl 74_37 -1 known missense c.1613 p.A538V 0.785 NULL pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP - no_errors GOLGA1 HGNC ENSG00000136935 47 0 0 31 5 13.8889 C9orf114 0 genome.wustl.edu 37 9 131589325 131589325 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 131589325 131589325 C A SNP C9orf114 ENST00000361256 human ensembl 74_37 -1 known missense c.354 p.E118D 0.596 pfam_Put_MeTrfase pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold - no_errors C9orf114 HGNC ENSG00000198917 110 0 0 77 6 7.22892 USP20 0 genome.wustl.edu 37 9 132640637 132640637 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 132640637 132640637 C T SNP USP20 ENST00000315480 human ensembl 74_37 +1 known silent c.2430 p.A810 0.038 smart_Pept_C19_DUSP pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP20 HGNC ENSG00000136878 11 0 0 3 2 40 LAMC3 0 genome.wustl.edu 37 9 133914413 133914413 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 133914413 133914413 G A SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known missense c.1139 p.C380Y 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,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 LAMC3 HGNC ENSG00000050555 56 0 0 35 5 12.5 GTF3C5 0 genome.wustl.edu 37 9 135919230 135919230 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 135919230 135919230 G A SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known silent c.489 p.E163 0.218 pfam_TF_IIIC_su-5 pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 110 0 0 81 6 6.89655 ABO 0 genome.wustl.edu 37 9 136131426 136131426 + RNA SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 136131426 136131426 G A SNP ABO ENST00000453660 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ABO HGNC ENSG00000175164 16 0 0 5 2 28.5714 DBH 0 genome.wustl.edu 37 9 136505114 136505114 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 136505114 136505114 A G SNP DBH ENST00000393056 human ensembl 74_37 +1 known silent c.486 p.E162 1.000 pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 45 0 0 25 5 16.6667 FCN2 0 genome.wustl.edu 37 9 137778354 137778354 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 137778354 137778354 C T SNP FCN2 ENST00000291744 human ensembl 74_37 +1 known missense c.638 p.A213V 0.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN2 HGNC ENSG00000160339 131 0 0 117 14 10.687 KCNT1 0 genome.wustl.edu 37 9 138594140 138594140 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 138594140 138594140 C T SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known silent c.36 p.G12 0.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 51 0 0 21 3 12.5 SEC16A 0 genome.wustl.edu 37 9 139371919 139371919 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 139371919 139371919 G A SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.149 p.P50L 1.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 65 0 0 46 8 14.8148 NOTCH1 0 genome.wustl.edu 37 9 139395053 139395053 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 139395053 139395053 C T SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.5885 p.R1962H 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt-contain_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 200 0 0 127 8 5.92593 FAM69B 0 genome.wustl.edu 37 9 139612106 139612106 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 139612106 139612106 C T SNP FAM69B ENST00000371692 human ensembl 74_37 +1 known silent c.141 p.Y47 1.000 NULL pfam_FAM69_kinase_dom - no_errors FAM69B HGNC ENSG00000165716 56 0 0 42 5 10.6383 MAMDC4 0 genome.wustl.edu 37 9 139747775 139747775 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 139747775 139747775 G A SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known missense c.193 p.A65T 0.989 superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 101 0 0 60 5 7.69231 C8G 0 genome.wustl.edu 37 9 139840987 139840987 + Silent SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 139840987 139840987 T C SNP C8G ENST00000224181 human ensembl 74_37 +1 known silent c.525 p.T175 0.743 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_A1-microglobln pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_A1-microglobln,prints_Lipocalin - no_errors C8G HGNC ENSG00000176919 53 0 0 38 6 13.6364 ABCA2 0 genome.wustl.edu 37 9 139910181 139910181 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 139910181 139910181 C T SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.3460 p.V1154M 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 37 0 0 22 3 12 ANAPC2 0 genome.wustl.edu 37 9 140077586 140077586 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 140077586 140077586 C T SNP ANAPC2 ENST00000323927 human ensembl 74_37 -1 known missense c.1277 p.R426H 1.000 NULL pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology - no_errors ANAPC2 HGNC ENSG00000176248 106 0 0 77 14 15.3846 PNPLA7 0 genome.wustl.edu 37 9 140356620 140356620 + RNA SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 140356620 140356620 C T SNP PNPLA7 ENST00000492278 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PNPLA7 HGNC ENSG00000130653 28 0 0 23 4 14.8148 EHMT1 0 genome.wustl.edu 37 9 140685301 140685301 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 140685301 140685301 C T SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.2384 p.A795V 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_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 140 0 0 114 9 7.31707 CCDC171 0 genome.wustl.edu 37 9 15971659 15971659 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 15971659 15971659 C T SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.3806 p.P1269L 0.904 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 129 0 0 175 12 6.41711 CBWD1 0 genome.wustl.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 164038 164038 C G SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known splice_site c.431-1 e5-1 1.000 - - - no_errors CBWD1 HGNC ENSG00000172785 126 0 0 144 11 7.09677 ELAVL2 0 genome.wustl.edu 37 9 23704955 23704955 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 23704955 23704955 G A SNP ELAVL2 ENST00000380117 human ensembl 74_37 -1 known missense c.448 p.R150C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 92 0 0 112 6 5.08475 TESK1 0 genome.wustl.edu 37 9 35609103 35609103 + Missense_Mutation SNP G G T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 35609103 35609103 G T SNP TESK1 ENST00000336395 human ensembl 74_37 +1 known missense c.1245 p.Q415H 0.960 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK1 HGNC ENSG00000107140 209 0 0 186 14 7 TESK1 0 genome.wustl.edu 37 9 35609490 35609490 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 35609490 35609490 G A SNP TESK1 ENST00000336395 human ensembl 74_37 +1 known silent c.1632 p.A544 0.916 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK1 HGNC ENSG00000107140 47 0 0 42 5 10.6383 TMEM8B 0 genome.wustl.edu 37 9 35852919 35852919 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 35852919 35852919 C T SNP TMEM8B ENST00000377988 human ensembl 74_37 +1 known silent c.915 p.S305 0.089 pfam_DUF3522 pfam_DUF3522 - no_errors TMEM8B HGNC ENSG00000137103 128 0 0 92 11 10.6796 FRMPD1 0 genome.wustl.edu 37 9 37744455 37744455 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 37744455 37744455 C A SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known missense c.2426 p.P809H 0.000 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 130 0 0 112 8 6.66667 INSL4 0 genome.wustl.edu 37 9 5231550 5231550 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 5231550 5231550 G A SNP INSL4 ENST00000239316 human ensembl 74_37 +1 known silent c.27 p.L9 0.005 prints_Relaxin superfamily_Insulin-like,prints_Placentin,prints_Relaxin - no_errors INSL4 HGNC ENSG00000120211 42 0 0 35 4 10.2564 FAM189A2 0 genome.wustl.edu 37 9 71990713 71990713 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 71990713 71990713 C T SNP FAM189A2 ENST00000257515 human ensembl 74_37 +1 known missense c.185 p.T62I 1.000 pfam_CD20-like pfam_CD20-like - no_errors FAM189A2 HGNC ENSG00000135063 93 0 0 83 10 10.7527 APBA1 0 genome.wustl.edu 37 9 72131523 72131523 + Missense_Mutation SNP C C A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 72131523 72131523 C A SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known missense c.604 p.G202W 1.000 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 28 0 0 11 3 21.4286 TRPM3 0 genome.wustl.edu 37 9 73225553 73225553 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 73225553 73225553 G A SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.2684 p.A895V 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 71 0 0 83 6 6.74157 PRUNE2 0 genome.wustl.edu 37 9 79469111 79469111 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 79469111 79469111 C T SNP PRUNE2 ENST00000376718 human ensembl 74_37 -1 novel missense c.50 p.R17H 0.990 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 37 0 0 33 8 19.5122 S1PR3 0 genome.wustl.edu 37 9 91615967 91615967 + Splice_Site SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 91615967 91615967 A G SNP S1PR3 ENST00000358157 human ensembl 74_37 +1 known splice_site c.1-2 e1-2 0.990 - - - no_errors S1PR3 HGNC ENSG00000213694 18 0 0 8 4 33.3333 NUTM2F 0 genome.wustl.edu 37 9 97082562 97082562 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 97082562 97082562 G A SNP NUTM2F ENST00000253262 human ensembl 74_37 -1 known silent c.1296 p.D432 0.000 NULL NULL - no_errors NUTM2F HGNC ENSG00000130950 124 0 0 92 7 7.07071 DCAF12L2 0 genome.wustl.edu 37 X 125298659 125298659 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 X 125298659 125298659 A G SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.1249 p.W417R 0.991 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 71 0 0 48 12 20 DCAF12L2 0 genome.wustl.edu 37 X 125299569 125299569 + Silent SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 X 125299569 125299569 G A SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known silent c.339 p.C113 0.999 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 25 0 0 35 18 33.9623 DCAF12L1 0 genome.wustl.edu 37 X 125686201 125686201 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 X 125686201 125686201 C T SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.391 p.A131T 0.014 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 29 0 0 20 8 28.5714 UTP14A 0 genome.wustl.edu 37 X 129054501 129054501 + Missense_Mutation SNP T T C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 X 129054501 129054501 T C SNP UTP14A ENST00000394422 human ensembl 74_37 +1 known missense c.821 p.V274A 0.006 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 87 0 0 39 10 20.4082 CRLF2 0 genome.wustl.edu 37 X 1327751 1327751 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 X 1327751 1327751 C T SNP CRLF2 ENST00000381567 human ensembl 74_37 -1 known missense c.130 p.V44M 0.110 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF2 HGNC ENSG00000205755 132 0 0 103 7 6.36364 ATXN3L 0 genome.wustl.edu 37 X 13337597 13337597 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 X 13337597 13337597 C T SNP ATXN3L ENST00000380622 human ensembl 74_37 -1 known missense c.457 p.A153T 0.915 pfam_Josephin,prints_Josephin,pfscan_Josephin pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,prints_Josephin,pfscan_Josephin,pfscan_Ubiquitin-int_motif - no_errors ATXN3L HGNC ENSG00000123594 40 0 0 29 6 17.1429 G6PD 0 genome.wustl.edu 37 X 153762284 153762284 + Missense_Mutation SNP G G A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 X 153762284 153762284 G A SNP G6PD ENST00000369620 human ensembl 74_37 -1 known missense c.736 p.R246C 1.000 pfam_G6P_DH_C,pirsf_G6P_DH,prints_G6P_DH pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH - no_errors G6PD HGNC ENSG00000160211 63 0 0 36 7 16.2791 PLCXD1 0 genome.wustl.edu 37 X 208208 208208 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 X 208208 208208 C T SNP PLCXD1 ENST00000381657 human ensembl 74_37 +1 known missense c.436 p.R146C 0.796 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD1 HGNC ENSG00000182378 119 0 0 75 11 12.7907 BCOR 0 genome.wustl.edu 37 X 39931667 39931667 + Nonsense_Mutation SNP T T A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 X 39931667 39931667 T A SNP BCOR ENST00000378444 human ensembl 74_37 -1 known nonsense c.2932 p.K978* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 8 0 0 12 7 36.8421 VCX3A 0 genome.wustl.edu 37 X 6452058 6452058 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 X 6452058 6452058 C T SNP VCX3A ENST00000381089 human ensembl 74_37 -1 known missense c.289 p.E97K 0.922 NULL NULL - no_errors VCX3A HGNC ENSG00000169059 20 0 0 17 6 26.087 ACRC 0 genome.wustl.edu 37 X 70823565 70823565 + Silent SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 X 70823565 70823565 A G SNP ACRC ENST00000373695 human ensembl 74_37 +1 known silent c.438 p.S146 0.001 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 145 0 0 95 14 12.844 ACRC 0 genome.wustl.edu 37 X 70823574 70823574 + Silent SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 X 70823574 70823574 C T SNP ACRC ENST00000373695 human ensembl 74_37 +1 known silent c.447 p.P149 0.003 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 154 0 0 101 10 9.00901 ZDHHC15 0 genome.wustl.edu 37 X 74644604 74644604 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 X 74644604 74644604 C T SNP ZDHHC15 ENST00000373367 human ensembl 74_37 -1 known missense c.619 p.V207I 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC15 HGNC ENSG00000102383 9 0 0 9 3 25 PCDH11X 0 genome.wustl.edu 37 X 91132396 91132396 + Missense_Mutation SNP C C T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 X 91132396 91132396 C T SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.1157 p.T386M 0.390 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 41 0 0 31 11 26.1905 AMELY 0 genome.wustl.edu 37 Y 6736349 6736349 + Missense_Mutation SNP A A G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 Y 6736349 6736349 A G SNP AMELY ENST00000383036 human ensembl 74_37 -1 known missense c.344 p.L115P 0.999 pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin - no_errors AMELY HGNC ENSG00000099721 54 0 0 35 9 20.4545 KCNC4 0 genome.wustl.edu 37 1 110754142 110754144 + In_Frame_Del DEL CTC CTC - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 110754142 110754144 CTC - DEL KCNC4 ENST00000369787 human ensembl 74_37 +1 known in_frame_del c.21_23 p.S9in_frame_del 0.999:1.000:1.000 pfam_K_chnl_volt-dep_Kv3_ID pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 37 0 0 22 4 15.3846 CEPT1 0 genome.wustl.edu 37 1 111690319 111690320 + RNA INS - - A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 111690319 111690320 - A INS CEPT1 ENST00000460443 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.005 - - - no_errors CEPT1 HGNC ENSG00000134255 30 0 0 31 5 13.8889 FAM19A3 0 genome.wustl.edu 37 1 113266684 113266684 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 113266684 113266684 G - DEL FAM19A3 ENST00000369630 human ensembl 74_37 +1 known frame_shift_del c.383 p.R130fs 0.000 NULL pfam_Chemokine-like_FAM19A2 - no_errors FAM19A3 HGNC ENSG00000184599 54 0 0 36 7 16.2791 MXRA8 0 genome.wustl.edu 37 1 1290110 1290110 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 1290110 1290110 G - DEL MXRA8 ENST00000445648 human ensembl 74_37 -1 known frame_shift_del c.901 p.R301fs 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 19 0 0 12 3 20 HNRNPCL1 0 genome.wustl.edu 37 1 12907544 12907544 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 12907544 12907544 T - DEL HNRNPCL1 ENST00000317869 human ensembl 74_37 -1 known frame_shift_del c.599 p.N200fs 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC ENSG00000179172 384 0 0 313 23 6.84524 MTMR11 0 genome.wustl.edu 37 1 149902648 149902648 + RNA DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 149902648 149902648 A - DEL MTMR11 ENST00000492824 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTMR11 HGNC ENSG00000014914 28 0 0 21 6 22.2222 CERS2 0 genome.wustl.edu 37 1 150938656 150938657 + Frame_Shift_Ins INS - - G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 150938656 150938657 - G INS CERS2 ENST00000271688 human ensembl 74_37 -1 known frame_shift_ins c.1111_1110 p.I370fs 0.016:0.015 NULL pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS2 HGNC ENSG00000143418 110 0 0 109 7 6.03448 ZNF687 0 genome.wustl.edu 37 1 151261079 151261079 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 151261079 151261079 C - DEL ZNF687 ENST00000324048 human ensembl 74_37 +1 known frame_shift_del c.2191 p.H733fs 0.430 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 96 0 0 84 8 8.69565 CCT3 0 genome.wustl.edu 37 1 156290648 156290648 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 156290648 156290648 T - DEL CCT3 ENST00000295688 human ensembl 74_37 -1 known frame_shift_del c.591 p.K197fs 0.995 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_gamma pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma - no_errors CCT3 HGNC ENSG00000163468 188 0 0 172 17 8.99471 B4GALT3 0 genome.wustl.edu 37 1 161145762 161145762 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 161145762 161145762 C - DEL B4GALT3 ENST00000319769 human ensembl 74_37 -1 known frame_shift_del c.89 p.G30fs 1.000 NULL pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT3 HGNC ENSG00000158850 125 0 0 87 9 9.375 ALDH9A1 0 genome.wustl.edu 37 1 165634376 165634376 + RNA DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 165634376 165634376 A - DEL ALDH9A1 ENST00000463610 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ALDH9A1 HGNC ENSG00000143149 27 0 0 26 4 13.3333 RASAL2 0 genome.wustl.edu 37 1 178412040 178412041 + Frame_Shift_Ins INS - - A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 178412040 178412041 - A INS RASAL2 ENST00000367649 human ensembl 74_37 +1 known frame_shift_ins c.1158_1159 p.D389fs 1.000:1.000 superfamily_C2_dom,smart_C2_dom pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 70 0 0 71 12 14.4578 ACTL8 0 genome.wustl.edu 37 1 18149788 18149788 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 18149788 18149788 C - DEL ACTL8 ENST00000375406 human ensembl 74_37 +1 known frame_shift_del c.285 p.P97fs 0.994 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL8 HGNC ENSG00000117148 106 0 0 72 8 10 UBR4 0 genome.wustl.edu 37 1 19480406 19480408 + In_Frame_Del DEL AGG AGG - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 19480406 19480408 AGG - DEL UBR4 ENST00000375267 human ensembl 74_37 -1 known in_frame_del c.6486_6484 p.P2162in_frame_del 0.982:1.000:1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 129 0 0 106 9 7.82609 CR2 0 genome.wustl.edu 37 1 207641843 207641844 + RNA INS - - T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 207641843 207641844 - T INS CR2 ENST00000485707 human ensembl 74_37 +1 known rna NULL NULL 0.047:0.038 - - - no_errors CR2 HGNC ENSG00000117322 29 0 0 35 5 12.5 EIF4G3 0 genome.wustl.edu 37 1 21299497 21299497 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 21299497 21299497 T - DEL EIF4G3 ENST00000374937 human ensembl 74_37 -1 known frame_shift_del c.442 p.T148fs 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 25 0 0 28 9 24.3243 USH2A 0 genome.wustl.edu 37 1 215820962 215820962 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 215820962 215820962 C - DEL USH2A ENST00000366943 human ensembl 74_37 -1 known frame_shift_del c.14693 p.G4898fs 0.040 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 52 0 0 41 9 18 ZBTB40 0 genome.wustl.edu 37 1 22817980 22817981 + Frame_Shift_Ins INS - - A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 22817980 22817981 - A INS ZBTB40 ENST00000375647 human ensembl 74_37 +1 known frame_shift_ins c.785_786 p.L265fs 0.931:0.926 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 78 0 0 90 12 11.7647 ARID1A 0 genome.wustl.edu 37 1 27106078 27106078 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 27106078 27106078 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.5689 p.P1898fs 0.966 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 143 0 0 83 9 9.78261 AGO1 0 genome.wustl.edu 37 1 36379836 36379836 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 36379836 36379836 C - DEL AGO1 ENST00000373204 human ensembl 74_37 +1 known frame_shift_del c.1794 p.P600fs 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO1 HGNC ENSG00000092847 78 0 0 78 6 7.14286 MACF1 0 genome.wustl.edu 37 1 39926343 39926343 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 39926343 39926343 A - DEL MACF1 ENST00000317713 human ensembl 74_37 +1 known frame_shift_del c.15223 p.K5076fs 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 118 0 0 90 15 14.2857 MAST2 0 genome.wustl.edu 37 1 46485319 46485319 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 46485319 46485319 A - DEL MAST2 ENST00000361297 human ensembl 74_37 +1 known frame_shift_del c.1240 p.K415fs 1.000 pfam_MA_Ser/Thr_Kinase_dom,superfamily_MAST_pre-PK_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 73 0 0 69 5 6.75676 MYSM1 0 genome.wustl.edu 37 1 59160846 59160846 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 59160846 59160846 T - DEL MYSM1 ENST00000472487 human ensembl 74_37 -1 known frame_shift_del c.102 p.D35fs 0.999 NULL pfam_SWIRM,pfam_JAB_MPN_dom,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB_MPN_dom,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors MYSM1 HGNC ENSG00000162601 48 0 0 41 5 10.8696 JUN 0 genome.wustl.edu 37 1 59248633 59248634 + Frame_Shift_Del DEL CT CT - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 59248633 59248634 CT - DEL JUN ENST00000371222 human ensembl 74_37 -1 known frame_shift_del c.110_109 p.S37fs 1.000:1.000 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUN HGNC ENSG00000177606 152 0 0 139 12 7.94702 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 53 0 0 48 9 15.7895 ALG6 0 genome.wustl.edu 37 1 63836751 63836751 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 63836751 63836751 A - DEL ALG6 ENST00000487136 human ensembl 74_37 +1 known frame_shift_del c.103 p.T38fs 0.000 NULL NULL - no_errors ALG6 HGNC ENSG00000088035 50 0 0 36 17 32.0755 DEPDC1 0 genome.wustl.edu 37 1 68948399 68948400 + Frame_Shift_Del DEL TC TC - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 68948399 68948400 TC - DEL DEPDC1 ENST00000456315 human ensembl 74_37 -1 known frame_shift_del c.1092_1091 p.R364fs 0.002:0.000 superfamily_Rho_GTPase_activation_prot pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC1 HGNC ENSG00000024526 70 0 0 72 11 13.253 FAM73A 0 genome.wustl.edu 37 1 78338797 78338797 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 1 78338797 78338797 T - DEL FAM73A ENST00000370791 human ensembl 74_37 +1 known frame_shift_del c.1672 p.F559fs 1.000 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73A HGNC ENSG00000180488 104 0 0 78 7 8.23529 RAB11FIP2 0 genome.wustl.edu 37 10 119798646 119798647 + Frame_Shift_Ins INS - - T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 119798646 119798647 - T INS RAB11FIP2 ENST00000369199 human ensembl 74_37 -1 known frame_shift_ins c.1102_1101 p.D367fs 1.000:1.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP2 HGNC ENSG00000107560 144 0 0 174 16 8.42105 NDST2 0 genome.wustl.edu 37 10 75563406 75563406 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 75563406 75563406 C - DEL NDST2 ENST00000309979 human ensembl 74_37 -1 known frame_shift_del c.2068 p.A690fs 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST2 HGNC ENSG00000166507 254 0 0 158 9 5.38922 KIF20B 0 genome.wustl.edu 37 10 91497987 91497987 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 10 91497987 91497987 A - DEL KIF20B ENST00000416354 human ensembl 74_37 +1 known frame_shift_del c.3479 p.N1162fs 0.300 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 64 0 0 82 13 13.6842 GRIA4 0 genome.wustl.edu 37 11 105732777 105732777 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 105732777 105732777 A - DEL GRIA4 ENST00000282499 human ensembl 74_37 +1 known frame_shift_del c.515 p.A174fs 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 77 0 0 87 8 8.42105 KMT2A 0 genome.wustl.edu 37 11 118374938 118374939 + Frame_Shift_Ins INS - - A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 118374938 118374939 - A INS KMT2A ENST00000389506 human ensembl 74_37 +1 known frame_shift_ins c.8322_8323 p.N2775fs 1.000:1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 105 0 0 82 6 6.81818 SC5D 0 genome.wustl.edu 37 11 121174117 121174117 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 121174117 121174117 T - DEL SC5D ENST00000264027 human ensembl 74_37 +1 known frame_shift_del c.33 p.F13fs 0.704 NULL pfam_Fatty_acid_hydroxylase - no_errors SC5D HGNC ENSG00000109929 101 0 0 89 7 7.29167 LDLRAD3 0 genome.wustl.edu 37 11 36250780 36250780 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 36250780 36250780 C - DEL LDLRAD3 ENST00000315571 human ensembl 74_37 +1 known frame_shift_del c.871 p.Y293fs 1.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLRAD3 HGNC ENSG00000179241 389 0 0 224 16 6.66667 STIM1 0 genome.wustl.edu 37 11 4103578 4103578 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 4103578 4103578 G - DEL STIM1 ENST00000300737 human ensembl 74_37 +1 known frame_shift_del c.1134 p.A380fs 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors STIM1 HGNC ENSG00000167323 20 0 0 16 3 15.7895 ROM1 0 genome.wustl.edu 37 11 62381084 62381084 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 62381084 62381084 G - DEL ROM1 ENST00000278833 human ensembl 74_37 +1 known frame_shift_del c.331 p.L114fs 0.023 pfam_Tetraspanin/Peripherin,prints_Peripherin/rom-1 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors ROM1 HGNC ENSG00000149489 54 0 0 35 5 12.5 MEN1 0 genome.wustl.edu 37 11 64572093 64572093 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 64572093 64572093 G - DEL MEN1 ENST00000337652 human ensembl 74_37 -1 known frame_shift_del c.1561 p.R521fs 0.999 pfam_Menin pfam_Menin - no_errors MEN1 HGNC ENSG00000133895 27 0 0 17 6 26.087 NDUFV1 0 genome.wustl.edu 37 11 67377028 67377028 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 67377028 67377028 G - DEL NDUFV1 ENST00000322776 human ensembl 74_37 +1 known frame_shift_del c.432 p.G146fs 0.005 pfam_NADH_UbQ_OxRdtase_51kDa_su,tigrfam_NADH-UbQ_OxRdtase_suF pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF - no_errors NDUFV1 HGNC ENSG00000167792 210 0 0 139 16 10.3226 NUMA1 0 genome.wustl.edu 37 11 71726491 71726491 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 71726491 71726491 T - DEL NUMA1 ENST00000393695 human ensembl 74_37 -1 known frame_shift_del c.2058 p.A687fs 0.042 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 131 0 0 73 11 13.0952 ST5 0 genome.wustl.edu 37 11 8751782 8751782 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 8751782 8751782 G - DEL ST5 ENST00000313726 human ensembl 74_37 -1 known frame_shift_del c.1055 p.P352fs 0.042 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 140 0 0 82 7 7.86517 KDM4D 0 genome.wustl.edu 37 11 94730807 94730807 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 11 94730807 94730807 A - DEL KDM4D ENST00000335080 human ensembl 74_37 +1 known frame_shift_del c.271 p.K93fs 0.600 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC ENSG00000186280 85 0 0 80 12 13.0435 TBX5 0 genome.wustl.edu 37 12 114832616 114832616 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 114832616 114832616 T - DEL TBX5 ENST00000310346 human ensembl 74_37 -1 known frame_shift_del c.593 p.N198fs 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 296 0 0 193 18 8.53081 KNTC1 0 genome.wustl.edu 37 12 123052858 123052858 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 123052858 123052858 T - DEL KNTC1 ENST00000333479 human ensembl 74_37 +1 known frame_shift_del c.1655 p.L554fs 1.000 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 183 0 0 149 10 6.28931 VPS37B 0 genome.wustl.edu 37 12 123351892 123351892 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 123351892 123351892 G - DEL VPS37B ENST00000267202 human ensembl 74_37 -1 known frame_shift_del c.629 p.P210fs 0.609 NULL pfam_Mod_r - no_errors VPS37B HGNC ENSG00000139722 24 0 0 25 3 10.7143 RPL22P19 0 genome.wustl.edu 37 12 125420367 125420367 + RNA DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 125420367 125420367 T - DEL RPL22P19 ENST00000480427 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL22P19 HGNC ENSG00000241129 14 0 0 10 3 23.0769 EMP1 0 genome.wustl.edu 37 12 13364427 13364427 + RNA DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 13364427 13364427 A - DEL EMP1 ENST00000542289 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EMP1 HGNC ENSG00000134531 81 0 0 81 14 14.7368 TWF1 0 genome.wustl.edu 37 12 44193276 44193276 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 44193276 44193276 T - DEL TWF1 ENST00000325127 human ensembl 74_37 -1 known frame_shift_del c.510 p.K170fs 1.000 smart_Actin-bd_cofilin/tropomyosin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors TWF1 HGNC ENSG00000151239 15 0 0 19 6 24 KMT2D 0 genome.wustl.edu 37 12 49445525 49445526 + Frame_Shift_Ins INS - - G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 49445525 49445526 - G INS KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_ins c.1941_1940 p.P648fs 0.000:0.001 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 105 0 0 55 11 16.6667 FMNL3 0 genome.wustl.edu 37 12 50048743 50048744 + Frame_Shift_Ins INS - - A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 50048743 50048744 - A INS FMNL3 ENST00000293590 human ensembl 74_37 -1 known frame_shift_ins c.910_909 p.E303fs 1.000:1.000 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL3 HGNC ENSG00000161791 155 0 0 94 11 10.4762 SMARCC2 0 genome.wustl.edu 37 12 56559112 56559113 + Frame_Shift_Ins INS - - G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 56559112 56559113 - G INS SMARCC2 ENST00000267064 human ensembl 74_37 -1 known frame_shift_ins c.3129_3128 p.G1044fs 1.000:1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 98 0 0 72 7 8.86076 MYO1A 0 genome.wustl.edu 37 12 57422573 57422573 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 57422573 57422573 T - DEL MYO1A ENST00000300119 human ensembl 74_37 -1 known frame_shift_del c.3098 p.K1033fs 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 91 0 0 73 8 9.87654 CD4 0 genome.wustl.edu 37 12 6924043 6924043 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 6924043 6924043 G - DEL CD4 ENST00000011653 human ensembl 74_37 +1 known frame_shift_del c.492 p.K167fs 0.000 pfam_Ig_C2-set,smart_Ig_sub,smart_Ig_sub2 pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 114 0 0 60 8 11.7647 GLIPR1L2 0 genome.wustl.edu 37 12 75816793 75816793 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 75816793 75816793 A - DEL GLIPR1L2 ENST00000320460 human ensembl 74_37 +1 known frame_shift_del c.694 p.M234fs 0.215 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR1L2 HGNC ENSG00000180481 63 0 0 70 7 9.09091 CEP290 0 genome.wustl.edu 37 12 88524079 88524079 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 12 88524079 88524079 T - DEL CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_del c.635 p.N212fs 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 134 0 0 146 12 7.59494 UPF3A 0 genome.wustl.edu 37 13 115057211 115057211 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 13 115057211 115057211 A - DEL UPF3A ENST00000375299 human ensembl 74_37 +1 known frame_shift_del c.790 p.E267fs 0.943 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 33 0 0 19 4 17.3913 MICU2 0 genome.wustl.edu 37 13 22077129 22077129 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 13 22077129 22077129 A - DEL MICU2 ENST00000382374 human ensembl 74_37 -1 known frame_shift_del c.869 p.F290fs 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU2 HGNC ENSG00000165487 67 0 0 46 7 13.2075 PCDH20 0 genome.wustl.edu 37 13 61987422 61987422 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 13 61987422 61987422 G - DEL PCDH20 ENST00000409186 human ensembl 74_37 -1 known frame_shift_del c.810 p.Y271fs 0.896 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 60 0 0 46 6 11.5385 G2E3 0 genome.wustl.edu 37 14 31074772 31074772 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 14 31074772 31074772 A - DEL G2E3 ENST00000206595 human ensembl 74_37 +1 known frame_shift_del c.1072 p.T361fs 0.994 superfamily_HECT pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 21 0 0 16 5 23.8095 PRKCH 0 genome.wustl.edu 37 14 62014534 62014535 + Frame_Shift_Ins INS - - T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 14 62014534 62014535 - T INS PRKCH ENST00000332981 human ensembl 74_37 +1 known frame_shift_ins c.1835_1836 p.K615fs 1.000:0.923 superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCH HGNC ENSG00000027075 437 0 0 292 24 7.59494 TJP1 0 genome.wustl.edu 37 15 30024704 30024704 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 30024704 30024704 A - DEL TJP1 ENST00000346128 human ensembl 74_37 -1 known frame_shift_del c.1950 p.F650fs 1.000 smart_GK/Ca_channel_bsu pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 140 0 0 109 18 14.1732 EIF2AK4 0 genome.wustl.edu 37 15 40282508 40282508 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 40282508 40282508 T - DEL EIF2AK4 ENST00000263791 human ensembl 74_37 +1 known frame_shift_del c.2561 p.L856fs 1.000 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,pirsf_Ser/Thr_kinase_GCN2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom - no_errors EIF2AK4 HGNC ENSG00000128829 228 0 0 150 12 7.40741 C15orf52 0 genome.wustl.edu 37 15 40630771 40630772 + Frame_Shift_Ins INS - - G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 40630771 40630772 - G INS C15orf52 ENST00000559313 human ensembl 74_37 -1 known frame_shift_ins c.610_609 p.T203fs 0.000:0.000 NULL NULL - no_errors C15orf52 HGNC ENSG00000188549 147 0 0 92 9 8.91089 PRTG 0 genome.wustl.edu 37 15 55912892 55912892 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 55912892 55912892 A - DEL PRTG ENST00000389286 human ensembl 74_37 -1 known frame_shift_del c.3167 p.F1056fs 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 58 0 0 53 5 8.62069 SCAND2P 0 genome.wustl.edu 37 15 85177820 85177820 + RNA DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 85177820 85177820 A - DEL SCAND2P ENST00000427525 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SCAND2P HGNC ENSG00000176700 64 0 0 36 6 14.2857 AGBL1 0 genome.wustl.edu 37 15 86807693 86807693 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 15 86807693 86807693 A - DEL AGBL1 ENST00000441037 human ensembl 74_37 +1 known frame_shift_del c.1153 p.N387fs 0.000 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 51 0 0 24 10 29.4118 ZC3H7A 0 genome.wustl.edu 37 16 11846617 11846619 + In_Frame_Del DEL GGA GGA - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 11846617 11846619 GGA - DEL ZC3H7A ENST00000355758 human ensembl 74_37 -1 known in_frame_del c.2634_2632 p.S878in_frame_del 0.000:0.999:0.999 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ENSG00000122299 81 0 0 64 10 13.5135 ERN2 0 genome.wustl.edu 37 16 23703318 23703320 + In_Frame_Del DEL AAG AAG - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 23703318 23703320 AAG - DEL ERN2 ENST00000256797 human ensembl 74_37 -1 known in_frame_del c.2486_2484 p.F829in_frame_del 1.000:1.000:1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN2 HGNC ENSG00000134398 401 0 0 277 52 15.8055 HSD3B7 0 genome.wustl.edu 37 16 30998167 30998167 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 30998167 30998167 G - DEL HSD3B7 ENST00000297679 human ensembl 74_37 +1 known frame_shift_del c.538 p.L182fs 1.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,pfam_dTDP_dehydrorham_reduct,pfam_NmrA - no_errors HSD3B7 HGNC ENSG00000099377 110 0 0 63 6 8.69565 NLRC5 0 genome.wustl.edu 37 16 57088736 57088736 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 57088736 57088736 A - DEL NLRC5 ENST00000262510 human ensembl 74_37 +1 known frame_shift_del c.3580 p.K1195fs 0.975 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 230 0 0 177 22 11.0553 GLG1 0 genome.wustl.edu 37 16 74525009 74525009 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 16 74525009 74525009 C - DEL GLG1 ENST00000205061 human ensembl 74_37 -1 known frame_shift_del c.1339 p.E447fs 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 102 0 0 107 9 7.75862 FBXO47 0 genome.wustl.edu 37 17 37099038 37099038 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 37099038 37099038 A - DEL FBXO47 ENST00000378079 human ensembl 74_37 -1 known frame_shift_del c.1076 p.L359fs 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO47 HGNC ENSG00000204952 84 0 0 44 6 12 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 178 0 0 138 10 6.75676 BRIP1 0 genome.wustl.edu 37 17 59763432 59763432 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 59763432 59763432 T - DEL BRIP1 ENST00000259008 human ensembl 74_37 -1 known frame_shift_del c.2670 p.V891fs 0.008 NULL pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC ENSG00000136492 131 0 0 126 7 5.26316 BPTF 0 genome.wustl.edu 37 17 65899951 65899951 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 65899951 65899951 A - DEL BPTF ENST00000321892 human ensembl 74_37 +1 known frame_shift_del c.2968 p.E993fs 0.993 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 42 0 0 30 7 18.9189 BCL6B 0 genome.wustl.edu 37 17 6927857 6927858 + Frame_Shift_Ins INS - - C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 6927857 6927858 - C INS BCL6B ENST00000293805 human ensembl 74_37 +1 known frame_shift_ins c.539_540 p.S183fs 0.341:0.003 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6B HGNC ENSG00000161940 210 0 0 155 16 9.35673 CBX2 0 genome.wustl.edu 37 17 77758255 77758256 + Frame_Shift_Ins INS - - T TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 77758255 77758256 - T INS CBX2 ENST00000310942 human ensembl 74_37 +1 known frame_shift_ins c.1013_1014 p.G339fs 0.005:0.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX2 HGNC ENSG00000173894 27 0 0 19 5 20.8333 CHD3 0 genome.wustl.edu 37 17 7798765 7798765 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 17 7798765 7798765 C - DEL CHD3 ENST00000330494 human ensembl 74_37 +1 known frame_shift_del c.1612 p.R540fs 0.007 superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 130 0 0 86 7 7.52688 CABYR 0 genome.wustl.edu 37 18 21739921 21739921 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 18 21739921 21739921 A - DEL CABYR ENST00000399496 human ensembl 74_37 +1 known frame_shift_del c.1027 p.S345fs 0.977 NULL pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b - no_errors CABYR HGNC ENSG00000154040 191 0 0 158 9 5.38922 SMAD2 0 genome.wustl.edu 37 18 45371785 45371785 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 18 45371785 45371785 A - DEL SMAD2 ENST00000262160 human ensembl 74_37 -1 known frame_shift_del c.1206 p.F402fs 1.000 pfam_SMAD_dom_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD2 HGNC ENSG00000175387 81 0 0 72 18 20 WDR7 0 genome.wustl.edu 37 18 54358513 54358513 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 18 54358513 54358513 G - DEL WDR7 ENST00000254442 human ensembl 74_37 +1 known frame_shift_del c.784 p.D264fs 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 99 0 0 86 7 7.52688 ALPK2 0 genome.wustl.edu 37 18 56246440 56246440 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 18 56246440 56246440 T - DEL ALPK2 ENST00000361673 human ensembl 74_37 -1 known frame_shift_del c.1568 p.K523fs 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 231 0 0 149 8 5.09554 LMAN1 0 genome.wustl.edu 37 18 57013285 57013285 + Splice_Site DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 18 57013285 57013285 T - DEL LMAN1 ENST00000251047 human ensembl 74_37 -1 known splice_site_del c.823-2 e8-2 1.000 - - - no_errors LMAN1 HGNC ENSG00000074695 128 1 0.775194 115 17 12.8788 GRIN3B 0 genome.wustl.edu 37 19 1007861 1007861 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 1007861 1007861 C - DEL GRIN3B ENST00000234389 human ensembl 74_37 +1 known frame_shift_del c.2205 p.K738fs 0.998 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_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 GRIN3B HGNC ENSG00000116032 27 0 0 18 3 14.2857 KANK2 0 genome.wustl.edu 37 19 11287378 11287378 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 11287378 11287378 G - DEL KANK2 ENST00000432929 human ensembl 74_37 -1 known frame_shift_del c.1660 p.Q554fs 0.312 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 175 0 0 88 14 13.7255 ZNF442 0 genome.wustl.edu 37 19 12462035 12462036 + Frame_Shift_Del DEL CA CA - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 12462035 12462036 CA - DEL ZNF442 ENST00000242804 human ensembl 74_37 -1 known frame_shift_del c.364_363 p.C121fs 0.648:0.644 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF442 HGNC ENSG00000198342 127 0 0 119 10 7.75194 DAZAP1 0 genome.wustl.edu 37 19 1430254 1430254 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 1430254 1430254 C - DEL DAZAP1 ENST00000233078 human ensembl 74_37 +1 known frame_shift_del c.764 p.P257fs 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 34 0 0 31 5 13.8889 C19orf44 0 genome.wustl.edu 37 19 16620329 16620329 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 16620329 16620329 A - DEL C19orf44 ENST00000221671 human ensembl 74_37 +1 known frame_shift_del c.1169 p.T392fs 0.000 NULL NULL - no_errors C19orf44 HGNC ENSG00000105072 156 0 0 90 7 7.21649 KMT2B 0 genome.wustl.edu 37 19 36210764 36210764 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 36210764 36210764 C - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.515 p.P174fs 0.976 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 116 0 0 68 15 18.0723 SIPA1L3 0 genome.wustl.edu 37 19 38655214 38655214 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 38655214 38655214 C - DEL SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known frame_shift_del c.3876 p.L1294fs 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 96 0 0 66 5 7.04225 ZNF114 0 genome.wustl.edu 37 19 48789818 48789818 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 48789818 48789818 T - DEL ZNF114 ENST00000315849 human ensembl 74_37 +1 known frame_shift_del c.937 p.Y315fs 0.070 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF114 HGNC ENSG00000178150 100 0 0 76 8 9.52381 RASIP1 0 genome.wustl.edu 37 19 49224207 49224207 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 49224207 49224207 G - DEL RASIP1 ENST00000222145 human ensembl 74_37 -1 known frame_shift_del c.2740 p.L914fs 0.993 NULL pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC ENSG00000105538 60 0 0 40 11 21.5686 BAX 0 genome.wustl.edu 37 19 49458971 49458971 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 49458971 49458971 G - DEL BAX ENST00000293288 human ensembl 74_37 +1 known frame_shift_del c.114 p.E41fs 0.588 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAX HGNC ENSG00000087088 103 0 0 63 9 12.5 HNRNPM 0 genome.wustl.edu 37 19 8550546 8550546 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 19 8550546 8550546 G - DEL HNRNPM ENST00000325495 human ensembl 74_37 +1 known frame_shift_del c.1234 p.G413fs 0.995 NULL pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPM HGNC ENSG00000099783 248 0 0 159 13 7.55814 ROCK2 0 genome.wustl.edu 37 2 11375864 11375864 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 11375864 11375864 T - DEL ROCK2 ENST00000315872 human ensembl 74_37 -1 known frame_shift_del c.687 p.K229fs 0.979 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,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 128 0 0 113 8 6.61157 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 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_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 ACVR2A HGNC ENSG00000121989 35 0 0 86 34 28.3333 LRP2 0 genome.wustl.edu 37 2 170042203 170042203 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 170042203 170042203 A - DEL LRP2 ENST00000263816 human ensembl 74_37 -1 known frame_shift_del c.9655 p.Y3219fs 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 154 0 0 142 10 6.57895 ENSG00000224643 0 genome.wustl.edu 37 2 183948142 183948142 + RNA DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 183948142 183948142 T - DEL ENSG00000224643 ENST00000444562 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC064871.3 Clone_based_vega_gene ENSG00000224643 15 0 0 9 3 25 MSTN 0 genome.wustl.edu 37 2 190922325 190922325 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 190922325 190922325 T - DEL MSTN ENST00000260950 human ensembl 74_37 -1 known frame_shift_del c.787 p.R263fs 1.000 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors MSTN HGNC ENSG00000138379 40 0 0 68 7 9.33333 SDPR 0 genome.wustl.edu 37 2 192701230 192701230 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 192701230 192701230 T - DEL SDPR ENST00000304141 human ensembl 74_37 -1 known frame_shift_del c.697 p.R233fs 1.000 NULL NULL - no_errors SDPR HGNC ENSG00000168497 199 0 0 189 15 7.35294 DNAH7 0 genome.wustl.edu 37 2 196788374 196788374 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 196788374 196788374 T - DEL DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_del c.3770 p.N1257fs 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 73 0 0 59 10 14.4928 BMPR2 0 genome.wustl.edu 37 2 203420130 203420130 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 203420130 203420130 A - DEL BMPR2 ENST00000374580 human ensembl 74_37 +1 known frame_shift_del c.1742 p.N583fs 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 - no_errors BMPR2 HGNC ENSG00000204217 97 0 0 54 5 8.47458 NEU2 0 genome.wustl.edu 37 2 233899467 233899467 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 233899467 233899467 C - DEL NEU2 ENST00000233840 human ensembl 74_37 +1 known frame_shift_del c.843 p.R283fs 0.648 superfamily_Sialidases superfamily_Sialidases - no_errors NEU2 HGNC ENSG00000115488 68 0 0 34 6 15 UGT1A3 0 genome.wustl.edu 37 2 234638490 234638491 + Frame_Shift_Ins INS - - AG TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 234638490 234638491 - AG INS UGT1A3 ENST00000482026 human ensembl 74_37 +1 known frame_shift_ins c.718_719 p.V243fs 0.390:0.444 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A3 HGNC ENSG00000243135 282 0 0 217 14 6.06061 RMDN2 0 genome.wustl.edu 37 2 38224583 38224583 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 38224583 38224583 A - DEL RMDN2 ENST00000234195 human ensembl 74_37 +1 known frame_shift_del c.1504 p.M504fs 1.000 NULL NULL - no_errors RMDN2 HGNC ENSG00000115841 69 0 0 82 8 8.88889 USP34 0 genome.wustl.edu 37 2 61633020 61633020 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 61633020 61633020 T - DEL USP34 ENST00000398571 human ensembl 74_37 -1 known frame_shift_del c.375 p.K125fs 0.935 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 86 0 0 77 8 9.41176 WBP1 0 genome.wustl.edu 37 2 74687410 74687410 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 74687410 74687410 C - DEL WBP1 ENST00000233615 human ensembl 74_37 +1 known frame_shift_del c.412 p.P140fs 0.993 pfam_Uncharacterised_WW-bd pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC ENSG00000239779 156 0 0 112 16 12.5 UNC50 0 genome.wustl.edu 37 2 99227294 99227296 + In_Frame_Del DEL CTT CTT - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 99227294 99227296 CTT - DEL UNC50 ENST00000409347 human ensembl 74_37 +1 known in_frame_del c.388_390 p.L132in_frame_del 1.000:1.000:0.961 pfam_UNC-50 pfam_UNC-50 - no_errors UNC50 HGNC ENSG00000115446 259 0 0 247 13 5 TSGA10 0 genome.wustl.edu 37 2 99695322 99695322 + RNA DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 99695322 99695322 T - DEL TSGA10 ENST00000489546 human ensembl 74_37 -1 known rna NULL NULL 0.067 - - - no_errors TSGA10 HGNC ENSG00000135951 21 0 0 18 4 18.1818 LIPT1 0 genome.wustl.edu 37 2 99778781 99778781 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 2 99778781 99778781 A - DEL LIPT1 ENST00000340066 human ensembl 74_37 +1 known frame_shift_del c.361 p.K123fs 0.994 pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase - no_errors LIPT1 HGNC ENSG00000144182 76 0 0 66 8 10.8108 RIN2 0 genome.wustl.edu 37 20 19956091 19956092 + Frame_Shift_Ins INS - - C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 19956091 19956092 - C INS RIN2 ENST00000255006 human ensembl 74_37 +1 known frame_shift_ins c.1569_1570 p.I525fs 0.455:0.502 NULL pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 80 0 0 53 8 13.1148 ATRN 0 genome.wustl.edu 37 20 3526487 3526487 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 3526487 3526487 T - DEL ATRN ENST00000262919 human ensembl 74_37 +1 known frame_shift_del c.687 p.F231fs 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 70 0 0 72 7 8.86076 EMILIN3 0 genome.wustl.edu 37 20 39990829 39990829 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 39990829 39990829 C - DEL EMILIN3 ENST00000332312 human ensembl 74_37 -1 known frame_shift_del c.1380 p.W461fs 0.767 NULL pfam_EMI_domain,pfscan_EMI_domain - no_errors EMILIN3 HGNC ENSG00000183798 151 0 0 90 8 8.16327 KCNB1 0 genome.wustl.edu 37 20 47989771 47989772 + Frame_Shift_Ins INS - - G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 47989771 47989772 - G INS KCNB1 ENST00000371741 human ensembl 74_37 -1 known frame_shift_ins c.2326_2325 p.K775fs 0.996:0.982 NULL pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 511 0 0 329 18 5.18732 SLC23A2 0 genome.wustl.edu 37 20 4864322 4864322 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 4864322 4864322 C - DEL SLC23A2 ENST00000338244 human ensembl 74_37 -1 known frame_shift_del c.790 p.E264fs 1.000 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A2 HGNC ENSG00000089057 114 0 0 93 10 9.70874 ADNP 0 genome.wustl.edu 37 20 49509188 49509189 + Frame_Shift_Ins INS - - A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 20 49509188 49509189 - A INS ADNP ENST00000349014 human ensembl 74_37 -1 known frame_shift_ins c.2063_2062 p.R688fs 1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 120 0 0 87 11 11.2245 ERG 0 genome.wustl.edu 37 21 39755554 39755554 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 21 39755554 39755554 G - DEL ERG ENST00000398919 human ensembl 74_37 -1 known frame_shift_del c.1232 p.P411fs 0.987 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERG HGNC ENSG00000157554 101 0 0 98 8 7.54717 DSCAM 0 genome.wustl.edu 37 21 41414356 41414356 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 21 41414356 41414356 G - DEL DSCAM ENST00000400454 human ensembl 74_37 -1 known frame_shift_del c.5628 p.K1877fs 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 85 0 0 64 11 14.6667 UBE2G2 0 genome.wustl.edu 37 21 46191156 46191156 + RNA DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 21 46191156 46191156 A - DEL UBE2G2 ENST00000477954 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors UBE2G2 HGNC ENSG00000184787 13 0 0 7 2 22.2222 POFUT2 0 genome.wustl.edu 37 21 46705651 46705651 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 21 46705651 46705651 A - DEL POFUT2 ENST00000349485 human ensembl 74_37 -1 known frame_shift_del c.324 p.F108fs 0.981 pfam_GDP-Fuc_O-FucTrfase pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749 - no_errors POFUT2 HGNC ENSG00000186866 137 0 0 104 9 7.9646 C22orf24 0 genome.wustl.edu 37 22 32334105 32334105 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 22 32334105 32334105 A - DEL C22orf24 ENST00000543051 human ensembl 74_37 -1 known frame_shift_del c.149 p.F50fs 0.000 NULL NULL - no_errors C22orf24 HGNC ENSG00000128254 175 0 0 117 28 19.3103 ENSG00000244327 0 genome.wustl.edu 37 3 142184164 142184164 + RNA DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 142184164 142184164 A - DEL ENSG00000244327 ENST00000460977 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-383G6.3 Clone_based_vega_gene ENSG00000244327 10 0 0 13 4 23.5294 MED12L 0 genome.wustl.edu 37 3 150877785 150877786 + Frame_Shift_Ins INS - - C TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 150877785 150877786 - C INS MED12L ENST00000474524 human ensembl 74_37 +1 known frame_shift_ins c.1004_1005 p.G338fs 0.241:0.269 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 148 0 0 154 34 18.0851 DVL3 0 genome.wustl.edu 37 3 183884759 183884760 + Frame_Shift_Del DEL AG AG - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 183884759 183884760 AG - DEL DVL3 ENST00000313143 human ensembl 74_37 +1 known frame_shift_del c.1194_1195 p.E399fs 0.991:1.000 NULL pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 132 0 0 123 9 6.81818 SENP2 0 genome.wustl.edu 37 3 185329480 185329480 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 185329480 185329480 G - DEL SENP2 ENST00000296257 human ensembl 74_37 +1 known frame_shift_del c.764 p.E257fs 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP2 HGNC ENSG00000163904 32 0 0 33 3 8.33333 MB21D2 0 genome.wustl.edu 37 3 192516280 192516280 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 192516280 192516280 T - DEL MB21D2 ENST00000392452 human ensembl 74_37 -1 known frame_shift_del c.1371 p.K457fs 1.000 NULL pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 141 0 0 122 9 6.87023 TM4SF19-AS1 0 genome.wustl.edu 37 3 196051082 196051082 + RNA DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 196051082 196051082 T - DEL TM4SF19-AS1 ENST00000452051 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors TM4SF19-AS1 HGNC ENSG00000235897 46 0 0 23 4 14.8148 NKTR 0 genome.wustl.edu 37 3 42679036 42679036 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 42679036 42679036 C - DEL NKTR ENST00000232978 human ensembl 74_37 +1 known frame_shift_del c.1840 p.P616fs 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 172 0 0 190 11 5.47264 EPHA3 0 genome.wustl.edu 37 3 89391024 89391024 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 3 89391024 89391024 A - DEL EPHA3 ENST00000336596 human ensembl 74_37 +1 known frame_shift_del c.1090 p.K365fs 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 67 0 0 76 8 9.52381 ALPK1 0 genome.wustl.edu 37 4 113356325 113356326 + Frame_Shift_Ins INS - - A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 113356325 113356326 - A INS ALPK1 ENST00000177648 human ensembl 74_37 +1 known frame_shift_ins c.3056_3057 p.S1022fs 1.000:0.994 superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 160 0 0 170 15 8.10811 GUCY1A3 0 genome.wustl.edu 37 4 156651353 156651353 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 156651353 156651353 T - DEL GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known frame_shift_del c.2043 p.L683fs 0.976 NULL pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 50 0 0 67 6 8.21918 RAPGEF2 0 genome.wustl.edu 37 4 160253755 160253755 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 160253755 160253755 A - DEL RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known frame_shift_del c.1558 p.S522fs 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 51 0 0 37 6 13.9535 ADAM29 0 genome.wustl.edu 37 4 175898316 175898317 + Frame_Shift_Ins INS - - A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 175898316 175898317 - A INS ADAM29 ENST00000359240 human ensembl 74_37 +1 known frame_shift_ins c.1640_1641 p.D548fs 0.000:0.000 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 100 0 0 124 18 12.6761 CENPC 0 genome.wustl.edu 37 4 68384936 68384936 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 68384936 68384936 T - DEL CENPC ENST00000273853 human ensembl 74_37 -1 known frame_shift_del c.616 p.R206fs 1.000 NULL pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC HGNC ENSG00000145241 55 0 0 37 13 26 UGT2B28 0 genome.wustl.edu 37 4 70146851 70146851 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 4 70146851 70146851 A - DEL UGT2B28 ENST00000335568 human ensembl 74_37 +1 known frame_shift_del c.633 p.N213fs 0.243 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 50 0 0 98 7 6.66667 RAD50 0 genome.wustl.edu 37 5 131927650 131927650 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 131927650 131927650 A - DEL RAD50 ENST00000265335 human ensembl 74_37 +1 known frame_shift_del c.1717 p.K574fs 1.000 superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes - no_errors RAD50 HGNC ENSG00000113522 97 0 0 90 9 9.09091 SPDL1 0 genome.wustl.edu 37 5 169015404 169015404 + RNA DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 169015404 169015404 A - DEL SPDL1 ENST00000510751 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPDL1 HGNC ENSG00000040275 35 0 0 34 11 24.4444 EMB 0 genome.wustl.edu 37 5 49707190 49707190 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 49707190 49707190 T - DEL EMB ENST00000303221 human ensembl 74_37 -1 known frame_shift_del c.224 p.N75fs 0.982 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors EMB HGNC ENSG00000170571 42 0 0 76 7 8.43373 TRIM23 0 genome.wustl.edu 37 5 64892935 64892935 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 64892935 64892935 T - DEL TRIM23 ENST00000231524 human ensembl 74_37 -1 known frame_shift_del c.1252 p.T418fs 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,superfamily_P-loop_NTPase,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors TRIM23 HGNC ENSG00000113595 109 0 0 116 7 5.69106 MSH3 0 genome.wustl.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 5 79970915 79970915 A - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_del c.1141 p.K383fs 0.982 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 132 0 0 134 11 7.58621 ASCC3 0 genome.wustl.edu 37 6 101296336 101296336 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 101296336 101296336 A - DEL ASCC3 ENST00000369162 human ensembl 74_37 -1 known frame_shift_del c.489 p.F163fs 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 73 0 0 56 11 16.4179 TUBE1 0 genome.wustl.edu 37 6 112397206 112397206 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 112397206 112397206 T - DEL TUBE1 ENST00000368662 human ensembl 74_37 -1 known frame_shift_del c.746 p.K249fs 0.016 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin - no_errors TUBE1 HGNC ENSG00000074935 127 0 0 102 9 8.10811 TSPYL1 0 genome.wustl.edu 37 6 116600626 116600626 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 116600626 116600626 T - DEL TSPYL1 ENST00000368608 human ensembl 74_37 -1 known frame_shift_del c.368 p.K123fs 0.000 NULL pfam_NAP_family - no_errors TSPYL1 HGNC ENSG00000189241 81 0 0 85 11 11.4583 GJA1 0 genome.wustl.edu 37 6 121768438 121768438 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 121768438 121768438 G - DEL GJA1 ENST00000282561 human ensembl 74_37 +1 known frame_shift_del c.445 p.L151fs 1.000 prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 120 0 0 88 11 11.1111 SOGA3 0 genome.wustl.edu 37 6 127837038 127837038 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 127837038 127837038 C - DEL SOGA3 ENST00000368268 human ensembl 74_37 -1 known frame_shift_del c.722 p.G241fs 0.999 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 33 0 0 30 4 11.7647 LAMA2 0 genome.wustl.edu 37 6 129634102 129634103 + Frame_Shift_Del DEL AC AC - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 129634102 129634103 AC - DEL LAMA2 ENST00000421865 human ensembl 74_37 +1 known frame_shift_del c.3271_3272 p.T1091fs 0.689:0.979 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 45 0 0 38 6 13.6364 TFB1M 0 genome.wustl.edu 37 6 155579083 155579083 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 155579083 155579083 T - DEL TFB1M ENST00000367166 human ensembl 74_37 -1 known frame_shift_del c.928 p.M310fs 0.995 NULL pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N - no_errors TFB1M HGNC ENSG00000029639 151 0 0 111 8 6.72269 SCAND3 0 genome.wustl.edu 37 6 28540408 28540408 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 28540408 28540408 T - DEL SCAND3 ENST00000452236 human ensembl 74_37 -1 known frame_shift_del c.3258 p.K1086fs 0.991 superfamily_RNaseH-like_dom pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 78 0 0 77 12 13.4831 VWA7 0 genome.wustl.edu 37 6 31733484 31733484 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 31733484 31733484 A - DEL VWA7 ENST00000375688 human ensembl 74_37 -1 novel frame_shift_del c.2563 p.S855fs 0.000 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 12 0 0 9 4 30.7692 VWA7 0 genome.wustl.edu 37 6 31737509 31737509 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 31737509 31737509 G - DEL VWA7 ENST00000375686 human ensembl 74_37 -1 known frame_shift_del c.1260 p.K421fs 0.981 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 148 0 0 62 7 10.1449 SUPT3H 0 genome.wustl.edu 37 6 44922337 44922337 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 44922337 44922337 T - DEL SUPT3H ENST00000371460 human ensembl 74_37 -1 known frame_shift_del c.621 p.A208fs 1.000 NULL pfam_TFIID-18,superfamily_Histone-fold - no_errors SUPT3H HGNC ENSG00000196284 67 0 0 64 9 12.3288 EXOC2 0 genome.wustl.edu 37 6 637793 637794 + Frame_Shift_Ins INS - - G TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 637793 637794 - G INS EXOC2 ENST00000230449 human ensembl 74_37 -1 known frame_shift_ins c.26_25 p.L9fs 1.000:0.974 pfam_IPT,superfamily_Ig_E-set pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 146 0 0 106 14 11.6667 BAI3 0 genome.wustl.edu 37 6 69640508 69640508 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 69640508 69640508 A - DEL BAI3 ENST00000370598 human ensembl 74_37 +1 known frame_shift_del c.815 p.R274fs 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 35 0 0 49 7 12.5 HTR1E 0 genome.wustl.edu 37 6 87725847 87725847 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 6 87725847 87725847 C - DEL HTR1E ENST00000305344 human ensembl 74_37 +1 known frame_shift_del c.795 p.F268fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 193 0 0 163 16 8.93855 BCAP29 0 genome.wustl.edu 37 7 107234540 107234540 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 107234540 107234540 T - DEL BCAP29 ENST00000379119 human ensembl 74_37 +1 known frame_shift_del c.334 p.W114fs 1.000 pfam_Bap31 pfam_Bap31 - no_errors BCAP29 HGNC ENSG00000075790 46 0 0 41 7 14.5833 SSMEM1 0 genome.wustl.edu 37 7 129847761 129847761 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 129847761 129847761 T - DEL SSMEM1 ENST00000297819 human ensembl 74_37 +1 known frame_shift_del c.11 p.S6fs 0.945 NULL NULL - no_errors SSMEM1 HGNC ENSG00000165120 126 0 0 97 8 7.61905 HOXA7 0 genome.wustl.edu 37 7 27195899 27195900 + Frame_Shift_Del DEL AT AT - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 27195899 27195900 AT - DEL HOXA7 ENST00000242159 human ensembl 74_37 -1 known frame_shift_del c.266_265 p.I89fs 1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA7 HGNC ENSG00000122592 61 0 0 25 6 19.3548 GPR141 0 genome.wustl.edu 37 7 37780555 37780555 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 37780555 37780555 T - DEL GPR141 ENST00000334425 human ensembl 74_37 +1 known frame_shift_del c.560 p.F188fs 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR141 HGNC ENSG00000187037 106 0 0 74 9 10.8434 MTERF 0 genome.wustl.edu 37 7 91502949 91502949 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 91502949 91502949 T - DEL MTERF ENST00000351870 human ensembl 74_37 -1 known frame_shift_del c.1159 p.R387fs 0.998 pfam_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERF HGNC ENSG00000127989 46 0 0 46 7 13.2075 CASD1 0 genome.wustl.edu 37 7 94185017 94185017 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 7 94185017 94185017 T - DEL CASD1 ENST00000297273 human ensembl 74_37 +1 known frame_shift_del c.2341 p.C783fs 0.986 NULL pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 71 0 0 85 11 11.4583 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 73 0 0 105 23 17.9688 RP1L1 0 genome.wustl.edu 37 8 10470757 10470757 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 10470757 10470757 G - DEL RP1L1 ENST00000382483 human ensembl 74_37 -1 known frame_shift_del c.851 p.P284fs 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 120 0 0 111 8 6.72269 ZHX1 0 genome.wustl.edu 37 8 124266068 124266071 + Frame_Shift_Del DEL AACT AACT - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 AACT AACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 124266068 124266071 AACT - DEL ZHX1 ENST00000297857 human ensembl 74_37 -1 known frame_shift_del c.2119_2116 p.S706fs 1.000:0.992:1.000:1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 124 0 0 105 16 13.2231 ENSG00000223697 0 genome.wustl.edu 37 8 133854715 133854715 + RNA DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 133854715 133854715 T - DEL ENSG00000223697 ENST00000608375 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors AF230666.2 Clone_based_vega_gene ENSG00000223697 16 0 0 17 18 51.4286 ADAM28 0 genome.wustl.edu 37 8 24167472 24167473 + Frame_Shift_Ins INS - - A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 24167472 24167473 - A INS ADAM28 ENST00000265769 human ensembl 74_37 +1 known frame_shift_ins c.216_217 p.N74fs 1.000:1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 57 0 0 68 6 8.10811 WRN 0 genome.wustl.edu 37 8 31001132 31001132 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 31001132 31001132 A - DEL WRN ENST00000298139 human ensembl 74_37 +1 known frame_shift_del c.3376 p.S1128fs 0.872 NULL pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 69 0 0 80 7 8.04598 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 73 0 0 77 5 6.09756 MIR4668 0 genome.wustl.edu 37 9 114694384 114694384 + RNA DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 114694384 114694384 A - DEL MIR4668 ENST00000582284 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR4668 HGNC ENSG00000266315 36 0 0 26 4 13.3333 SCAI 0 genome.wustl.edu 37 9 127764270 127764270 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 127764270 127764270 A - DEL SCAI ENST00000373549 human ensembl 74_37 -1 known frame_shift_del c.1187 p.F396fs 1.000 pfam_DUF3550,pirsf_UCP013022 pfam_DUF3550,pirsf_UCP013022 - no_errors SCAI HGNC ENSG00000173611 145 0 0 137 9 6.16438 TAF1L 0 genome.wustl.edu 37 9 32632794 32632794 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 32632794 32632794 A - DEL TAF1L ENST00000242310 human ensembl 74_37 -1 known frame_shift_del c.2784 p.F928fs 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 143 0 0 142 14 8.97436 CDC37L1 0 genome.wustl.edu 37 9 4688588 4688589 + Frame_Shift_Ins INS - - A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 4688588 4688589 - A INS CDC37L1 ENST00000381854 human ensembl 74_37 +1 known frame_shift_ins c.490_491 p.I166fs 1.000:1.000 pfam_Cdc37_Hsp90-bd pfam_Cdc37_Hsp90-bd - no_errors CDC37L1 HGNC ENSG00000106993 21 0 0 21 2 8.69565 RANBP6 0 genome.wustl.edu 37 9 6013035 6013037 + In_Frame_Del DEL AAT AAT - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 AAT AAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 6013035 6013037 AAT - DEL RANBP6 ENST00000259569 human ensembl 74_37 -1 known in_frame_del c.2573_2571 p.L857in_frame_del 1.000:1.000:1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 89 0 0 90 8 8.16327 ANKRD20A4 0 genome.wustl.edu 37 9 69421905 69421905 + Frame_Shift_Del DEL A A - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 69421905 69421905 A - DEL ANKRD20A4 ENST00000357336 human ensembl 74_37 +1 known frame_shift_del c.1369 p.N459fs 0.373 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 38 0 0 36 2 5.26316 C9orf41 0 genome.wustl.edu 37 9 77599854 77599854 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 77599854 77599854 T - DEL C9orf41 ENST00000376834 human ensembl 74_37 -1 known frame_shift_del c.1097 p.N366fs 0.998 pfam_N2227 pfam_N2227 - no_errors C9orf41 HGNC ENSG00000156017 67 0 0 57 6 9.52381 SPATA31D1 0 genome.wustl.edu 37 9 84606019 84606019 + Frame_Shift_Del DEL T T - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 9 84606019 84606019 T - DEL SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known frame_shift_del c.634 p.S213fs 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 213 0 0 189 11 5.5 GPC4 0 genome.wustl.edu 37 X 132548849 132548849 + Frame_Shift_Del DEL G G - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 X 132548849 132548849 G - DEL GPC4 ENST00000370828 human ensembl 74_37 -1 known frame_shift_del c.145 p.L49fs 0.058 pfam_Glypican pfam_Glypican - no_errors GPC4 HGNC ENSG00000076716 77 0 0 59 13 18.0556 ACE2 0 genome.wustl.edu 37 X 15584645 15584646 + RNA INS - - A TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 X 15584645 15584646 - A INS ACE2 ENST00000473851 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ACE2 HGNC ENSG00000130234 30 0 0 24 6 20 MAGEB10 0 genome.wustl.edu 37 X 27839538 27839538 + Frame_Shift_Del DEL C C - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 X 27839538 27839538 C - DEL MAGEB10 ENST00000356790 human ensembl 74_37 +1 known frame_shift_del c.115 p.S41fs 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB10 HGNC ENSG00000177689 26 0 0 11 4 26.6667 ZC3H12B 0 genome.wustl.edu 37 X 64722706 64722707 + Frame_Shift_Del DEL TA TA - TCGA-F1-A448-01A-11D-A24D-08 TCGA-F1-A448-10A-01D-A24F-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 91adaff0-a6b9-4124-9234-cb79390607b1 8d50883c-c8e2-4fc0-a92c-86a4ceee4568 X 64722706 64722707 TA - DEL ZC3H12B ENST00000338957 human ensembl 74_37 +1 known frame_shift_del c.2128_2129 p.Y710fs 1.000:1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 25 0 0 19 5 20.8333