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 TRMT13 0 genome.wustl.edu 37 1 100598738 100598738 + Missense_Mutation SNP C C G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 100598738 100598738 C G SNP TRMT13 ENST00000370141 human ensembl 74_37 +1 known missense c.14 p.A5G 0.000 NULL pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors TRMT13 HGNC ENSG00000122435 47 0 0 39 4 9.30233 PTCHD2 0 genome.wustl.edu 37 1 11561886 11561886 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 11561886 11561886 C T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known silent c.837 p.F279 1.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 24 0 0 18 15 45.4545 PRUNE 0 genome.wustl.edu 37 1 151006649 151006649 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 151006649 151006649 T A SNP PRUNE ENST00000271620 human ensembl 74_37 +1 known missense c.1301 p.F434Y 0.997 NULL pfam_DHHA2,pfam_Pesterase_RecJ - no_errors PRUNE HGNC ENSG00000143363 191 0 0 103 83 44.6237 POGZ 0 genome.wustl.edu 37 1 151380596 151380596 + Silent SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 151380596 151380596 A C SNP POGZ ENST00000271715 human ensembl 74_37 -1 known silent c.2355 p.A785 0.494 smart_Znf_C2H2-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 72 0 0 69 10 12.6582 TCHHL1 0 genome.wustl.edu 37 1 152059360 152059360 + Silent SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 152059360 152059360 T C SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known silent c.798 p.K266 0.038 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 247 0 0 210 22 9.48276 FLG 0 genome.wustl.edu 37 1 152280800 152280800 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 152280800 152280800 T G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6562 p.S2188R 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 492 1 0.20284 427 104 19.5857 FLG2 0 genome.wustl.edu 37 1 152329336 152329336 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 152329336 152329336 T C SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.926 p.Q309R 0.004 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 181 0 0 177 24 11.9403 LMX1A 0 genome.wustl.edu 37 1 165218827 165218827 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 165218827 165218827 T G SNP LMX1A ENST00000294816 human ensembl 74_37 -1 known missense c.314 p.E105A 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1A HGNC ENSG00000162761 51 0 0 27 6 18.1818 TADA1 0 genome.wustl.edu 37 1 166831580 166831580 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 166831580 166831580 C T SNP TADA1 ENST00000367874 human ensembl 74_37 -1 known missense c.400 p.D134N 1.000 NULL superfamily_Histone-fold - no_errors TADA1 HGNC ENSG00000152382 91 0 0 58 4 6.45161 SLC9C2 0 genome.wustl.edu 37 1 173517591 173517591 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 173517591 173517591 T G SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.1398 p.E466D 0.980 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 40 0 0 34 19 35.8491 C1orf27 0 genome.wustl.edu 37 1 186375301 186375301 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 186375301 186375301 G A SNP C1orf27 ENST00000287859 human ensembl 74_37 +1 known missense c.1087 p.D363N 1.000 NULL NULL - no_errors C1orf27 HGNC ENSG00000157181 126 0 0 98 35 26.3158 CHIT1 0 genome.wustl.edu 37 1 203188382 203188382 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 203188382 203188382 A C SNP CHIT1 ENST00000367229 human ensembl 74_37 -1 known missense c.991 p.W331G 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIT1 HGNC ENSG00000133063 168 0 0 96 58 37.6623 USH2A 0 genome.wustl.edu 37 1 216420388 216420388 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 216420388 216420388 T A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.2348 p.N783I 0.956 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin 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 103 0 0 64 31 32.6316 RYR2 0 genome.wustl.edu 37 1 237813289 237813289 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 237813289 237813289 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.7619 p.A2540V 1.000 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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 172 0 0 100 49 32.8859 AKT3 0 genome.wustl.edu 37 1 243858949 243858949 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 243858949 243858949 T A SNP AKT3 ENST00000263826 human ensembl 74_37 -1 known missense c.116 p.K39I 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT3 HGNC ENSG00000117020 27 0 0 22 9 29.0323 AKT3 0 genome.wustl.edu 37 1 243858952 243858952 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 243858952 243858952 T A SNP AKT3 ENST00000263826 human ensembl 74_37 -1 known missense c.113 p.Y38F 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT3 HGNC ENSG00000117020 27 0 0 21 10 32.2581 OR2G6 0 genome.wustl.edu 37 1 248685027 248685027 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 248685027 248685027 T G SNP OR2G6 ENST00000343414 human ensembl 74_37 +1 known missense c.80 p.L27R 0.491 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 97 0 0 78 33 29.7297 PRDM16 0 genome.wustl.edu 37 1 3328335 3328335 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 3328335 3328335 G A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known missense c.1574 p.R525Q 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 156 0 0 146 13 8.1761 RNF220 0 genome.wustl.edu 37 1 44878323 44878323 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 44878323 44878323 A C SNP RNF220 ENST00000355387 human ensembl 74_37 +1 known missense c.554 p.K185T 1.000 NULL superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 121 0 0 72 7 8.86076 DAB1 0 genome.wustl.edu 37 1 57537289 57537289 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 57537289 57537289 C T SNP DAB1 ENST00000371231 human ensembl 74_37 -1 known missense c.464 p.R155K 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB1 HGNC ENSG00000173406 32 0 0 26 8 23.5294 NFIA 0 genome.wustl.edu 37 1 61872278 61872278 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 61872278 61872278 C T SNP NFIA ENST00000371189 human ensembl 74_37 +1 known silent c.1434 p.P478 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIA HGNC ENSG00000162599 30 0 0 28 3 9.67742 INADL 0 genome.wustl.edu 37 1 62271131 62271131 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 62271131 62271131 G C SNP INADL ENST00000371158 human ensembl 74_37 +1 known missense c.1561 p.D521H 0.003 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 64 0 0 39 22 36.0656 DIRAS3 0 genome.wustl.edu 37 1 68512611 68512611 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 68512611 68512611 G A SNP DIRAS3 ENST00000370981 human ensembl 74_37 -1 known silent c.370 p.L124 0.989 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,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS3 HGNC ENSG00000162595 196 0 0 190 13 6.40394 PER3 0 genome.wustl.edu 37 1 7887365 7887365 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 7887365 7887365 C T SNP PER3 ENST00000361923 human ensembl 74_37 +1 known silent c.2352 p.T784 0.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 64 0 0 38 31 44.9275 TTLL7 0 genome.wustl.edu 37 1 84369788 84369788 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 84369788 84369788 T G SNP TTLL7 ENST00000260505 human ensembl 74_37 -1 known missense c.2182 p.K728Q 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 58 0 0 46 21 31.3433 SLC44A3 0 genome.wustl.edu 37 1 95303425 95303425 + Nonsense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 95303425 95303425 T G SNP SLC44A3 ENST00000271227 human ensembl 74_37 +1 known nonsense c.668 p.L223* 0.995 NULL pfam_Choline_transptr-like - no_errors SLC44A3 HGNC ENSG00000143036 116 0 0 75 7 8.53659 ABCC2 0 genome.wustl.edu 37 10 101595995 101595995 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 10 101595995 101595995 G A SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.3562 p.V1188M 0.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 104 0 0 66 6 8.33333 LDB1 0 genome.wustl.edu 37 10 103870449 103870449 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 10 103870449 103870449 C T SNP LDB1 ENST00000425280 human ensembl 74_37 -1 known missense c.362 p.R121Q 1.000 NULL NULL - no_errors LDB1 HGNC ENSG00000198728 63 0 0 15 15 50 FAM45A 0 genome.wustl.edu 37 10 120896041 120896041 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 10 120896041 120896041 C T SNP FAM45A ENST00000361432 human ensembl 74_37 +1 known missense c.956 p.S319L 0.228 NULL pfam_ABL9/DENND6_dom - no_errors FAM45A HGNC ENSG00000119979 68 0 0 38 31 44.9275 LHPP 0 genome.wustl.edu 37 10 126301905 126301905 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 10 126301905 126301905 G A SNP LHPP ENST00000368842 human ensembl 74_37 +1 known silent c.789 p.L263 1.000 tigrfam_HAD-SF_hydro_IIA_hyp2 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA - no_errors LHPP HGNC ENSG00000107902 91 0 0 64 33 34.0206 ITGA8 0 genome.wustl.edu 37 10 15650283 15650283 + Silent SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 10 15650283 15650283 A C SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known silent c.1560 p.S520 1.000 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 122 0 0 62 14 18.4211 VIM 0 genome.wustl.edu 37 10 17277380 17277380 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 10 17277380 17277380 G T SNP VIM ENST00000224237 human ensembl 74_37 +1 known missense c.1221 p.E407D 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors VIM HGNC ENSG00000026025 74 0 0 32 7 17.9487 LYZL1 0 genome.wustl.edu 37 10 29599960 29599960 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 10 29599960 29599960 A C SNP LYZL1 ENST00000375500 human ensembl 74_37 +1 known missense c.557 p.E186A 0.971 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22_lys pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL1 HGNC ENSG00000120563 202 1 0.492611 53 62 53.913 ZEB1 0 genome.wustl.edu 37 10 31810825 31810825 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 10 31810825 31810825 A G SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known silent c.2565 p.Q855 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 46 0 0 171 22 11.399 AGAP7 0 genome.wustl.edu 37 10 51465608 51465608 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 10 51465608 51465608 G A SNP AGAP7 ENST00000374095 human ensembl 74_37 -1 known missense c.848 p.T283I 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 AGAP7 HGNC ENSG00000204169 279 0 0 186 142 43.2927 DKK1 0 genome.wustl.edu 37 10 54074383 54074383 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 10 54074383 54074383 G A SNP DKK1 ENST00000373970 human ensembl 74_37 +1 known silent c.189 p.A63 0.670 NULL pfam_Dickkopf_N - no_errors DKK1 HGNC ENSG00000107984 64 0 0 62 8 11.4286 FAM13C 0 genome.wustl.edu 37 10 61112135 61112135 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 10 61112135 61112135 G A SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known silent c.219 p.T73 0.000 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 48 0 0 35 28 44.4444 UNC5B 0 genome.wustl.edu 37 10 73051239 73051239 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 10 73051239 73051239 G A SNP UNC5B ENST00000335350 human ensembl 74_37 +1 known missense c.1345 p.A449T 0.999 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5B HGNC ENSG00000107731 85 0 0 21 39 65 CDH23 0 genome.wustl.edu 37 10 73498303 73498303 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 10 73498303 73498303 T G SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.4273 p.F1425V 0.986 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 98 0 0 41 13 24.0741 TTC18 0 genome.wustl.edu 37 10 75056898 75056898 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 10 75056898 75056898 A T SNP TTC18 ENST00000310715 human ensembl 74_37 -1 known missense c.1756 p.L586M 0.838 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC ENSG00000156042 46 0 0 91 5 5.20833 ZNF518A 0 genome.wustl.edu 37 10 97915980 97915980 + RNA SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 10 97915980 97915980 A G SNP ZNF518A ENST00000478086 human ensembl 74_37 +1 known rna NULL NULL 0.036 - - - no_errors ZNF518A HGNC ENSG00000177853 16 0 0 9 11 55 ZNF518A 0 genome.wustl.edu 37 10 97916056 97916056 + RNA SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 10 97916056 97916056 A C SNP ZNF518A ENST00000478086 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF518A HGNC ENSG00000177853 42 0 0 21 24 53.3333 RRP12 0 genome.wustl.edu 37 10 99141532 99141532 + Silent SNP C C A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 10 99141532 99141532 C A SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known silent c.1260 p.A420 0.878 superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 61 0 0 18 22 55 DYNC2H1 0 genome.wustl.edu 37 11 103175338 103175338 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 103175338 103175338 A C SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.11292 p.Q3764H 0.998 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 35 0 0 55 9 14.0625 CASP1 0 genome.wustl.edu 37 11 104900547 104900547 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 104900547 104900547 G A SNP CASP1 ENST00000436863 human ensembl 74_37 -1 known missense c.707 p.S236F 1.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP1 HGNC ENSG00000137752 144 0 0 199 19 8.7156 CUL5 0 genome.wustl.edu 37 11 107925631 107925631 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 107925631 107925631 A T SNP CUL5 ENST00000393094 human ensembl 74_37 +1 known missense c.729 p.K243N 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC ENSG00000166266 30 0 0 33 13 28.2609 EXPH5 0 genome.wustl.edu 37 11 108380425 108380425 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 108380425 108380425 T C SNP EXPH5 ENST00000265843 human ensembl 74_37 -1 known missense c.5809 p.S1937G 0.011 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 78 0 0 55 30 35.2941 ALG9 0 genome.wustl.edu 37 11 111724443 111724443 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 111724443 111724443 C T SNP ALG9 ENST00000531154 human ensembl 74_37 -1 known missense c.205 p.D69N 1.000 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors ALG9 HGNC ENSG00000086848 134 0 0 120 22 15.493 GALNT18 0 genome.wustl.edu 37 11 11394149 11394149 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 11394149 11394149 A G SNP GALNT18 ENST00000227756 human ensembl 74_37 -1 known silent c.1005 p.I335 0.870 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT18 HGNC ENSG00000110328 42 0 0 18 14 43.75 CADM1 0 genome.wustl.edu 37 11 115109343 115109343 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 115109343 115109343 T G SNP CADM1 ENST00000452722 human ensembl 74_37 -1 known missense c.301 p.N101H 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM1 HGNC ENSG00000182985 34 0 0 61 4 6.15385 AMICA1 0 genome.wustl.edu 37 11 118083275 118083275 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 118083275 118083275 A G SNP AMICA1 ENST00000356289 human ensembl 74_37 -1 known silent c.45 p.D15 0.093 pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AMICA1 HGNC ENSG00000160593 41 0 0 41 8 16.3265 C11orf63 0 genome.wustl.edu 37 11 122817501 122817501 + Splice_Site SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 122817501 122817501 G C SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known splice_site c.1929+1 e5+1 1.000 - - - no_errors C11orf63 HGNC ENSG00000109944 62 0 0 54 13 19.403 OR8B2 0 genome.wustl.edu 37 11 124252930 124252930 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 124252930 124252930 A C SNP OR8B2 ENST00000375013 human ensembl 74_37 -1 known missense c.310 p.F104V 0.008 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 OR8B2 HGNC ENSG00000204293 55 0 0 64 13 16.8831 OR8B4 0 genome.wustl.edu 37 11 124294715 124294715 + Nonsense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 124294715 124294715 G C SNP OR8B4 ENST00000356130 human ensembl 74_37 -1 known nonsense c.53 p.S18* 0.447 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B4 HGNC ENSG00000198657 50 0 0 65 12 15.5844 ANO5 0 genome.wustl.edu 37 11 22248854 22248854 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 22248854 22248854 G A SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known missense c.370 p.E124K 1.000 NULL pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 121 0 0 92 16 14.8148 SLC17A6 0 genome.wustl.edu 37 11 22381048 22381048 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 22381048 22381048 T G SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.548 p.V183G 0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 65 0 0 41 10 19.6078 GAS2 0 genome.wustl.edu 37 11 22833429 22833429 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 22833429 22833429 G A SNP GAS2 ENST00000278187 human ensembl 74_37 +1 known missense c.809 p.R270Q 1.000 pfam_GAS2_dom,superfamily_GAS2_dom,smart_GAS2_dom pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2 HGNC ENSG00000148935 69 0 0 51 12 19.0476 ANO3 0 genome.wustl.edu 37 11 26620487 26620487 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 26620487 26620487 A G SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known missense c.1613 p.Q538R 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 49 0 0 49 3 5.76923 LOC440040 0 genome.wustl.edu 37 11 49831409 49831409 + RNA SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 49831409 49831409 T C SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 44 0 0 26 27 50.9434 OR4C13 0 genome.wustl.edu 37 11 49974148 49974148 + Nonsense_Mutation SNP C C A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 49974148 49974148 C A SNP OR4C13 ENST00000555099 human ensembl 74_37 +1 known nonsense c.174 p.Y58* 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C13 HGNC ENSG00000258817 222 0 0 172 40 18.8679 OR4A5 0 genome.wustl.edu 37 11 51412114 51412114 + Silent SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 51412114 51412114 A C SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known silent c.282 p.G94 0.007 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 OR4A5 HGNC ENSG00000221840 45 0 0 30 18 37.5 OR51B2 0 genome.wustl.edu 37 11 5344612 5344612 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 5344612 5344612 A G SNP OR51B2 ENST00000328813 human ensembl 74_37 -1 known missense c.916 p.S306P 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B2 HGNC ENSG00000184881 42 0 0 22 15 40.5405 OR5M8 0 genome.wustl.edu 37 11 56258219 56258219 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 56258219 56258219 G C SNP OR5M8 ENST00000327216 human ensembl 74_37 -1 known missense c.628 p.L210V 0.133 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M8 HGNC ENSG00000181371 55 0 0 28 31 52.5424 APLNR 0 genome.wustl.edu 37 11 57004241 57004241 + Missense_Mutation SNP C C A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 57004241 57004241 C A SNP APLNR ENST00000257254 human ensembl 74_37 -1 known missense c.238 p.V80L 1.000 pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors APLNR HGNC ENSG00000134817 41 0 0 21 18 46.1538 OR56B1 0 genome.wustl.edu 37 11 5757774 5757774 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 5757774 5757774 A G SNP OR56B1 ENST00000317121 human ensembl 74_37 +1 known missense c.28 p.I10V 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR56B1 HGNC ENSG00000181023 65 0 0 37 22 37.2881 OR52N1 0 genome.wustl.edu 37 11 5809861 5809861 + Nonsense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 5809861 5809861 A T SNP OR52N1 ENST00000317078 human ensembl 74_37 -1 known nonsense c.186 p.Y62* 0.619 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_Olfact_rcpt - no_errors OR52N1 HGNC ENSG00000181001 62 0 0 40 29 42.029 APBB1 0 genome.wustl.edu 37 11 6416828 6416828 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 6416828 6416828 C T SNP APBB1 ENST00000389906 human ensembl 74_37 -1 known missense c.2069 p.R690H 1.000 pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB1 HGNC ENSG00000166313 30 0 0 15 14 48.2759 NLRP14 0 genome.wustl.edu 37 11 7060049 7060049 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 7060049 7060049 A C SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known missense c.232 p.I78L 0.938 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN 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 NLRP14 HGNC ENSG00000158077 31 0 0 44 4 8.33333 SYTL2 0 genome.wustl.edu 37 11 85445318 85445318 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 85445318 85445318 G A SNP SYTL2 ENST00000316356 human ensembl 74_37 -1 known missense c.1054 p.R352W 0.818 NULL pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL2 HGNC ENSG00000137501 131 1 0.757576 155 10 6.06061 FAT3 0 genome.wustl.edu 37 11 92531644 92531644 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 11 92531644 92531644 A C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.5465 p.K1822T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 23 0 0 37 4 9.7561 UTP20 0 genome.wustl.edu 37 12 101759288 101759288 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 101759288 101759288 T G SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known missense c.6010 p.L2004V 0.993 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 33 0 0 21 5 19.2308 TAS2R7 0 genome.wustl.edu 37 12 10954529 10954529 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 10954529 10954529 C T SNP TAS2R7 ENST00000240687 human ensembl 74_37 -1 known missense c.641 p.R214Q 0.001 pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R7 HGNC ENSG00000121377 28 0 0 36 4 10 ACACB 0 genome.wustl.edu 37 12 109637357 109637357 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 109637357 109637357 G A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known silent c.2778 p.E926 1.000 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl 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,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 ACACB HGNC ENSG00000076555 87 0 0 58 12 17.1429 ERP29 0 genome.wustl.edu 37 12 112460298 112460298 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 112460298 112460298 T G SNP ERP29 ENST00000261735 human ensembl 74_37 +1 known missense c.628 p.L210V 1.000 pfam_ER_p29_C,superfamily_ER_p29_C,pirsf_ER_p29 pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29 - no_errors ERP29 HGNC ENSG00000089248 80 0 0 49 12 19.6721 HECTD4 0 genome.wustl.edu 37 12 112630954 112630954 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 112630954 112630954 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known silent c.8481 p.S2827 0.001 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 49 0 0 19 5 20.8333 TPCN1 0 genome.wustl.edu 37 12 113705654 113705654 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 113705654 113705654 G A SNP TPCN1 ENST00000541517 human ensembl 74_37 +1 known missense c.637 p.A213T 1.000 NULL pfam_Ion_trans_dom - no_errors TPCN1 HGNC ENSG00000186815 43 0 0 7 10 58.8235 SBNO1 0 genome.wustl.edu 37 12 123812541 123812541 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 123812541 123812541 A C SNP SBNO1 ENST00000420886 human ensembl 74_37 -1 known missense c.1330 p.L444V 0.997 superfamily_P-loop_NTPase pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 100 0 0 96 7 6.79612 SMCO3 0 genome.wustl.edu 37 12 14958991 14958991 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 14958991 14958991 T G SNP SMCO3 ENST00000316048 human ensembl 74_37 -1 known missense c.624 p.K208N 1.000 NULL NULL - no_errors SMCO3 HGNC ENSG00000179256 125 0 0 67 40 37.3832 ABCC9 0 genome.wustl.edu 37 12 21958148 21958148 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 21958148 21958148 T G SNP ABCC9 ENST00000261201 human ensembl 74_37 -1 known missense c.4610 p.K1537T 1.000 pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC9 HGNC ENSG00000069431 63 0 0 51 10 16.3934 H1FNT 0 genome.wustl.edu 37 12 48723523 48723523 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 48723523 48723523 C T SNP H1FNT ENST00000335017 human ensembl 74_37 +1 known missense c.449 p.A150V 0.000 NULL NULL - no_errors H1FNT HGNC ENSG00000187166 22 0 0 12 10 45.4545 KRT5 0 genome.wustl.edu 37 12 52908759 52908759 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 52908759 52908759 G A SNP KRT5 ENST00000252242 human ensembl 74_37 -1 known silent c.1740 p.T580 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT5 HGNC ENSG00000186081 85 0 0 59 19 24.359 KRT78 0 genome.wustl.edu 37 12 53233611 53233611 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 53233611 53233611 G A SNP KRT78 ENST00000304620 human ensembl 74_37 -1 known missense c.1205 p.T402M 0.007 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT78 HGNC ENSG00000170423 88 0 0 54 20 27.027 NCKAP1L 0 genome.wustl.edu 37 12 54914575 54914575 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 54914575 54914575 T G SNP NCKAP1L ENST00000293373 human ensembl 74_37 +1 known missense c.1723 p.F575V 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 330 0 0 259 18 6.49819 VWF 0 genome.wustl.edu 37 12 6080778 6080778 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 6080778 6080778 G T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.7535 p.S2512Y 0.003 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 104 0 0 61 25 29.0698 B4GALNT3 0 genome.wustl.edu 37 12 657427 657427 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 657427 657427 A T SNP B4GALNT3 ENST00000266383 human ensembl 74_37 +1 known missense c.817 p.T273S 0.970 pfam_PA14,smart_PA14 pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 49 0 0 37 9 19.5652 PTPRB 0 genome.wustl.edu 37 12 70965039 70965039 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 70965039 70965039 C T SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known missense c.3137 p.R1046H 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 34 0 0 23 3 11.5385 C1S 0 genome.wustl.edu 37 12 7177878 7177878 + Missense_Mutation SNP C C G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 7177878 7177878 C G SNP C1S ENST00000328916 human ensembl 74_37 +1 known missense c.1990 p.L664V 0.012 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C1S HGNC ENSG00000182326 198 0 0 144 21 12.7273 AICDA 0 genome.wustl.edu 37 12 8758006 8758006 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 8758006 8758006 C T SNP AICDA ENST00000229335 human ensembl 74_37 -1 known missense c.232 p.V78I 0.936 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors AICDA HGNC ENSG00000111732 63 0 0 31 15 32.6087 A2M 0 genome.wustl.edu 37 12 9254148 9254148 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 9254148 9254148 G A SNP A2M ENST00000318602 human ensembl 74_37 -1 known silent c.1389 p.P463 0.000 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 36 0 0 31 8 20.5128 TMPO 0 genome.wustl.edu 37 12 98927559 98927559 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 98927559 98927559 A G SNP TMPO ENST00000266732 human ensembl 74_37 +1 known silent c.1524 p.Q508 0.949 pfam_LAP2alpha pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 83 0 0 53 8 13.1148 KLRF1 0 genome.wustl.edu 37 12 9994946 9994946 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 12 9994946 9994946 A C SNP KLRF1 ENST00000279544 human ensembl 74_37 +1 known missense c.504 p.Q168H 0.545 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRF1 HGNC ENSG00000150045 53 0 0 54 16 22.8571 COL4A1 0 genome.wustl.edu 37 13 110831661 110831661 + Silent SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 13 110831661 110831661 T C SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known silent c.2301 p.G767 0.991 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 86 0 0 133 11 7.63889 TFDP1 0 genome.wustl.edu 37 13 114290350 114290350 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 13 114290350 114290350 G A SNP TFDP1 ENST00000375370 human ensembl 74_37 +1 known missense c.746 p.R249Q 1.000 pfam_Transc_factor_DP_C,pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP1 HGNC ENSG00000198176 120 0 0 132 39 22.807 SACS 0 genome.wustl.edu 37 13 23905608 23905608 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 13 23905608 23905608 A C SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.12407 p.L4136R 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 103 0 0 54 41 43.1579 ATP12A 0 genome.wustl.edu 37 13 25262594 25262594 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 13 25262594 25262594 C T SNP ATP12A ENST00000218548 human ensembl 74_37 +1 known silent c.366 p.G122 0.211 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC 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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP12A HGNC ENSG00000075673 403 1 0.247525 261 67 20.4268 RXFP2 0 genome.wustl.edu 37 13 32376379 32376379 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 13 32376379 32376379 A C SNP RXFP2 ENST00000298386 human ensembl 74_37 +1 known missense c.2102 p.K701T 1.000 NULL pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP2 HGNC ENSG00000133105 112 0 0 70 16 18.6047 STARD13 0 genome.wustl.edu 37 13 33859652 33859652 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 13 33859652 33859652 T G SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.124 p.S42R 1.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 160 0 0 91 69 43.125 CCDC70 0 genome.wustl.edu 37 13 52439824 52439824 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 13 52439824 52439824 G A SNP CCDC70 ENST00000242819 human ensembl 74_37 +1 known missense c.310 p.E104K 0.000 NULL NULL - no_errors CCDC70 HGNC ENSG00000123171 153 0 0 138 14 9.21053 PCDH17 0 genome.wustl.edu 37 13 58299162 58299162 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 13 58299162 58299162 T A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.3214 p.L1072M 0.998 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 71 0 0 53 48 47.5248 LMO7 0 genome.wustl.edu 37 13 76427387 76427387 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 13 76427387 76427387 G A SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known silent c.4680 p.R1560 0.986 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 32 0 0 32 5 13.5135 EDNRB 0 genome.wustl.edu 37 13 78492700 78492700 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 13 78492700 78492700 C T SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known silent c.9 p.P3 0.001 prints_ETB_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 25 0 0 17 15 46.875 RBM26 0 genome.wustl.edu 37 13 79940817 79940817 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 13 79940817 79940817 G A SNP RBM26 ENST00000438724 human ensembl 74_37 -1 known silent c.1086 p.P362 0.988 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 56 0 0 78 17 17.8947 SLITRK1 0 genome.wustl.edu 37 13 84454576 84454576 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 13 84454576 84454576 T G SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1067 p.K356T 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 79 0 0 68 8 10.5263 SLITRK5 0 genome.wustl.edu 37 13 88329798 88329798 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 13 88329798 88329798 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.2155 p.G719S 0.989 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 45 0 0 48 39 44.8276 UGGT2 0 genome.wustl.edu 37 13 96579548 96579548 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 13 96579548 96579548 C T SNP UGGT2 ENST00000376747 human ensembl 74_37 -1 known missense c.2020 p.D674N 1.000 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 48 0 0 51 27 34.6154 TNFAIP2 0 genome.wustl.edu 37 14 103599847 103599847 + Missense_Mutation SNP C C G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 14 103599847 103599847 C G SNP TNFAIP2 ENST00000333007 human ensembl 74_37 +1 known missense c.1694 p.T565S 0.086 pfam_Sec6 pfam_Sec6 - no_errors TNFAIP2 HGNC ENSG00000185215 80 0 0 24 17 41.4634 OR4K13 0 genome.wustl.edu 37 14 20502077 20502077 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 14 20502077 20502077 G T SNP OR4K13 ENST00000315693 human ensembl 74_37 -1 known missense c.841 p.L281I 0.008 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 OR4K13 HGNC ENSG00000176253 38 0 0 31 28 47.4576 RGS6 0 genome.wustl.edu 37 14 72926380 72926380 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 14 72926380 72926380 A C SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known missense c.383 p.N128T 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 109 0 0 97 8 7.61905 AREL1 0 genome.wustl.edu 37 14 75139568 75139568 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 14 75139568 75139568 G C SNP AREL1 ENST00000356357 human ensembl 74_37 -1 known missense c.1388 p.T463S 1.000 superfamily_HECT pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT - no_errors AREL1 HGNC ENSG00000119682 162 0 0 92 68 42.5 POMT2 0 genome.wustl.edu 37 14 77778318 77778318 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 14 77778318 77778318 A G SNP POMT2 ENST00000261534 human ensembl 74_37 -1 known missense c.307 p.F103L 1.000 pfam_Glyco_trans_39 pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT2 HGNC ENSG00000009830 36 0 0 21 15 41.6667 UNC79 0 genome.wustl.edu 37 14 94112973 94112973 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 14 94112973 94112973 T A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.6247 p.F2083I 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 37 0 0 38 8 17.3913 DNM1P47 0 genome.wustl.edu 37 15 102312686 102312686 + RNA SNP C C G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 15 102312686 102312686 C G SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.986 - - - no_errors DNM1P47 HGNC ENSG00000259660 82 0 0 73 29 28.4314 SNHG14 0 genome.wustl.edu 37 15 25423709 25423709 + RNA SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 15 25423709 25423709 G A SNP SNHG14 ENST00000441592 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 15 0 0 13 3 18.75 TLN2 0 genome.wustl.edu 37 15 62945507 62945507 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 15 62945507 62945507 G A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.511 p.D171N 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain 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 46 0 0 22 13 37.1429 HERC1 0 genome.wustl.edu 37 15 63926976 63926976 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 15 63926976 63926976 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.12526 p.L4176F 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 26 0 0 14 4 22.2222 NPIPB4 0 genome.wustl.edu 37 16 21854796 21854796 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 16 21854796 21854796 T G SNP NPIPB4 ENST00000415645 human ensembl 74_37 -1 known missense c.456 p.K152N 0.000 NULL NULL - no_errors NPIPB4 HGNC ENSG00000185864 262 0 0 165 48 22.5352 USP31 0 genome.wustl.edu 37 16 23080245 23080245 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 16 23080245 23080245 G C SNP USP31 ENST00000219689 human ensembl 74_37 -1 known missense c.3181 p.P1061A 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 97 0 0 55 42 43.299 NSMCE1 0 genome.wustl.edu 37 16 27238064 27238064 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 16 27238064 27238064 T C SNP NSMCE1 ENST00000361439 human ensembl 74_37 -1 known missense c.577 p.I193V 1.000 pfam_Znf_RING-like,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Znf_RING pfam_Nse1,pfam_Znf_RING-like,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Znf_RING - no_errors NSMCE1 HGNC ENSG00000169189 90 0 0 41 26 38.806 ZG16B 0 genome.wustl.edu 37 16 2882108 2882108 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 16 2882108 2882108 C T SNP ZG16B ENST00000382280 human ensembl 74_37 +1 known missense c.575 p.T192I 0.000 NULL superfamily_Mannose-bd_lectin,smart_Mannose-bd_lectin - no_errors ZG16B HGNC ENSG00000162078 125 0 0 75 22 22.6804 CYLD 0 genome.wustl.edu 37 16 50825577 50825577 + Missense_Mutation SNP C C G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 16 50825577 50825577 C G SNP CYLD ENST00000311559 human ensembl 74_37 +1 known missense c.2217 p.I739M 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67 - no_errors CYLD HGNC ENSG00000083799 65 0 0 49 21 30 GPR97 0 genome.wustl.edu 37 16 57707259 57707259 + Silent SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 16 57707259 57707259 A C SNP GPR97 ENST00000333493 human ensembl 74_37 +1 known silent c.85 p.R29 0.001 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR97 HGNC ENSG00000182885 55 0 0 40 8 16.6667 WDR90 0 genome.wustl.edu 37 16 705073 705073 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 16 705073 705073 G A SNP WDR90 ENST00000549091 human ensembl 74_37 +1 novel silent c.1482 p.E494 0.829 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 90 0 0 50 8 13.7931 MSLNL 0 genome.wustl.edu 37 16 830767 830767 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 16 830767 830767 G A SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known silent c.234 p.T78 0.006 NULL pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 253 0 0 101 92 47.6684 SNAI3 0 genome.wustl.edu 37 16 88748082 88748082 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 16 88748082 88748082 C T SNP SNAI3 ENST00000332281 human ensembl 74_37 -1 known silent c.117 p.V39 0.015 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI3 HGNC ENSG00000185669 37 0 0 11 20 64.5161 GRIN2A 0 genome.wustl.edu 37 16 9934899 9934899 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 16 9934899 9934899 A G SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.1391 p.L464P 1.000 pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 83 0 0 58 14 19.4444 MYH1 0 genome.wustl.edu 37 17 10415739 10415739 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 17 10415739 10415739 G A SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.1133 p.P378L 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom 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,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 136 0 0 81 5 5.81395 MYO15A 0 genome.wustl.edu 37 17 18044113 18044113 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 17 18044113 18044113 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known silent c.5373 p.L1791 0.993 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom 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 126 0 0 27 43 61.4286 SLFN12L 0 genome.wustl.edu 37 17 33802293 33802293 + Silent SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 17 33802293 33802293 T G SNP SLFN12L ENST00000449046 human ensembl 74_37 -1 known silent c.1509 p.P503 0.001 NULL pfam_ATPase_AAA-4 - no_errors SLFN12L HGNC ENSG00000205045 78 0 0 48 11 18.6441 GJD3 0 genome.wustl.edu 37 17 38520012 38520012 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 17 38520012 38520012 G A SNP GJD3 ENST00000337376 human ensembl 74_37 -1 known missense c.56 p.P19L 1.000 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJD3 HGNC ENSG00000183153 23 0 0 13 6 31.5789 MLX 0 genome.wustl.edu 37 17 40721590 40721590 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 17 40721590 40721590 C T SNP MLX ENST00000246912 human ensembl 74_37 +1 known missense c.604 p.R202C 0.996 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLX HGNC ENSG00000108788 52 0 0 34 14 29.1667 MED13 0 genome.wustl.edu 37 17 60033154 60033154 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 17 60033154 60033154 T G SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.5669 p.K1890T 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 89 0 0 51 11 17.7419 MRC2 0 genome.wustl.edu 37 17 60742114 60742114 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 17 60742114 60742114 C T SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known silent c.324 p.G108 1.000 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 93 0 0 49 11 18.3333 BPTF 0 genome.wustl.edu 37 17 65888127 65888127 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 17 65888127 65888127 A G SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.2410 p.K804E 1.000 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 34 0 0 17 11 39.2857 NUP85 0 genome.wustl.edu 37 17 73231771 73231771 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 17 73231771 73231771 C T SNP NUP85 ENST00000245544 human ensembl 74_37 +1 known silent c.1968 p.S656 0.998 NULL pfam_Nucleoporin_Nup85 - no_errors NUP85 HGNC ENSG00000125450 65 0 0 53 5 8.62069 TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.818 p.R273H 0.864 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 36 0 0 16 9 36 SYNGR2 0 genome.wustl.edu 37 17 76167882 76167882 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 17 76167882 76167882 T A SNP SYNGR2 ENST00000225777 human ensembl 74_37 +1 known missense c.540 p.N180K 1.000 pirsf_Synaptogyrin pfam_Marvel,pirsf_Synaptogyrin - no_errors SYNGR2 HGNC ENSG00000108639 130 1 0.763359 94 6 6 GLP2R 0 genome.wustl.edu 37 17 9792877 9792877 + Missense_Mutation SNP C C A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 17 9792877 9792877 C A SNP GLP2R ENST00000262441 human ensembl 74_37 +1 known missense c.1517 p.A506D 0.016 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 GLP2R HGNC ENSG00000065325 70 0 0 29 22 43.1373 SPIRE1 0 genome.wustl.edu 37 18 12463377 12463377 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 18 12463377 12463377 C T SNP SPIRE1 ENST00000409402 human ensembl 74_37 -1 known silent c.1611 p.P537 0.428 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE1 HGNC ENSG00000134278 111 0 0 59 26 30.5882 POTEC 0 genome.wustl.edu 37 18 14542958 14542958 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 18 14542958 14542958 T G SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.188 p.K63T 0.005 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 POTEC HGNC ENSG00000183206 338 0 0 259 82 24.0469 TTR 0 genome.wustl.edu 37 18 29172975 29172975 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 18 29172975 29172975 G T SNP TTR ENST00000237014 human ensembl 74_37 +1 known missense c.186 p.E62D 0.991 pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF,prints_Transthyretin/HIU_hydrolase - no_errors TTR HGNC ENSG00000118271 69 0 0 62 32 34.0426 FHOD3 0 genome.wustl.edu 37 18 34205506 34205506 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 18 34205506 34205506 C T SNP FHOD3 ENST00000591635 human ensembl 74_37 +1 putative missense c.14 p.P5L 0.000 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 62 0 0 49 35 41.6667 CDH20 0 genome.wustl.edu 37 18 59157803 59157803 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 18 59157803 59157803 G T SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.17 p.R6I 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 111 0 0 90 54 37.5 CLUL1 0 genome.wustl.edu 37 18 633357 633357 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 18 633357 633357 G A SNP CLUL1 ENST00000338387 human ensembl 74_37 +1 known missense c.916 p.G306R 0.135 pfam_Clusterin-like,smart_Clusterin_C pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLUL1 HGNC ENSG00000079101 49 0 0 37 19 33.9286 RTTN 0 genome.wustl.edu 37 18 67802494 67802494 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 18 67802494 67802494 A T SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.2811 p.D937E 0.026 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 42 0 0 89 5 5.31915 PQLC1 0 genome.wustl.edu 37 18 77679395 77679395 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 18 77679395 77679395 C T SNP PQLC1 ENST00000397778 human ensembl 74_37 -1 known missense c.397 p.D133N 1.000 NULL smart_CTNS - no_errors PQLC1 HGNC ENSG00000122490 37 0 0 18 12 40 ANKRD12 0 genome.wustl.edu 37 18 9256587 9256587 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 18 9256587 9256587 G A SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known missense c.3322 p.E1108K 1.000 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 ANKRD12 HGNC ENSG00000101745 75 0 0 86 10 10.4167 MIDN 0 genome.wustl.edu 37 19 1257094 1257094 + Silent SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 1257094 1257094 G C SNP MIDN ENST00000300952 human ensembl 74_37 +1 known silent c.1230 p.R410 0.970 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors MIDN HGNC ENSG00000167470 43 0 0 35 3 7.89474 MYO9B 0 genome.wustl.edu 37 19 17283571 17283571 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 17283571 17283571 T G SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known missense c.1939 p.F647V 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 111 0 0 98 6 5.76923 MYO9B 0 genome.wustl.edu 37 19 17322769 17322769 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 17322769 17322769 G A SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known missense c.6124 p.A2042T 0.130 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 16 0 0 5 3 37.5 IL12RB1 0 genome.wustl.edu 37 19 18180500 18180500 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 18180500 18180500 C T SNP IL12RB1 ENST00000593993 human ensembl 74_37 -1 known missense c.1045 p.V349I 0.001 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB1 HGNC ENSG00000096996 150 0 0 75 24 24.2424 ZNF208 0 genome.wustl.edu 37 19 22155008 22155008 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 22155008 22155008 T G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.2828 p.K943T 0.559 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 ZNF208 HGNC ENSG00000160321 32 0 0 35 3 7.89474 ZNF676 0 genome.wustl.edu 37 19 22364289 22364289 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 22364289 22364289 T A SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.230 p.E77V 0.009 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 65 0 0 58 23 28.3951 ZNF99 0 genome.wustl.edu 37 19 22941224 22941224 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 22941224 22941224 A G SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.1214 p.L405P 0.008 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 ZNF99 HGNC ENSG00000213973 58 0 0 38 15 28.3019 CLIP3 0 genome.wustl.edu 37 19 36515470 36515470 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 36515470 36515470 G T SNP CLIP3 ENST00000360535 human ensembl 74_37 -1 known missense c.746 p.A249E 1.000 NULL pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC ENSG00000105270 69 0 0 44 8 15.3846 ZFP14 0 genome.wustl.edu 37 19 36831555 36831555 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 36831555 36831555 A G SNP ZFP14 ENST00000270001 human ensembl 74_37 -1 known silent c.1173 p.T391 0.964 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 ZFP14 HGNC ENSG00000142065 82 0 0 29 31 51.6667 AXL 0 genome.wustl.edu 37 19 41765602 41765602 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 41765602 41765602 G T SNP AXL ENST00000301178 human ensembl 74_37 +1 known missense c.2478 p.E826D 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 79 0 0 54 4 6.89655 PSG6 0 genome.wustl.edu 37 19 43412006 43412006 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 43412006 43412006 G A SNP PSG6 ENST00000292125 human ensembl 74_37 -1 known missense c.707 p.P236L 0.010 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG6 HGNC ENSG00000170848 230 0 0 99 100 50.2513 PSG7 0 genome.wustl.edu 37 19 43441274 43441274 + RNA SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 43441274 43441274 A G SNP PSG7 ENST00000471557 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors PSG7 HGNC ENSG00000221878 67 0 0 49 3 5.76923 CCDC8 0 genome.wustl.edu 37 19 46915030 46915030 + Silent SNP C C A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 46915030 46915030 C A SNP CCDC8 ENST00000307522 human ensembl 74_37 -1 known silent c.1038 p.G346 0.719 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 252 0 0 171 16 8.55615 SIGLEC11 0 genome.wustl.edu 37 19 50461825 50461825 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 50461825 50461825 G A SNP SIGLEC11 ENST00000447370 human ensembl 74_37 -1 known missense c.1366 p.P456S 0.023 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC11 HGNC ENSG00000161640 43 0 0 20 10 33.3333 MYBPC2 0 genome.wustl.edu 37 19 50949194 50949194 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 50949194 50949194 C T SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known silent c.1191 p.F397 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 20 0 0 18 6 25 ZNF614 0 genome.wustl.edu 37 19 52520427 52520427 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 52520427 52520427 T A SNP ZNF614 ENST00000270649 human ensembl 74_37 -1 known missense c.424 p.S142C 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 ZNF614 HGNC ENSG00000142556 57 0 0 43 6 12.2449 ZNF583 0 genome.wustl.edu 37 19 56935669 56935669 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 56935669 56935669 T G SNP ZNF583 ENST00000291598 human ensembl 74_37 +1 known missense c.1642 p.L548V 0.999 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 ZNF583 HGNC ENSG00000198440 28 0 0 14 11 44 MUC16 0 genome.wustl.edu 37 19 9046074 9046074 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 9046074 9046074 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.35557 p.H11853Y 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 101 0 0 51 60 54.0541 MUC16 0 genome.wustl.edu 37 19 9062990 9062990 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 9062990 9062990 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.24456 p.E8152D 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 109 0 0 77 46 37.3984 UXS1 0 genome.wustl.edu 37 2 106781218 106781218 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 106781218 106781218 G C SNP UXS1 ENST00000283148 human ensembl 74_37 -1 known missense c.160 p.L54V 0.768 pfam_UXS1_N pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase - no_errors UXS1 HGNC ENSG00000115652 13 0 0 15 5 25 SLC35F5 0 genome.wustl.edu 37 2 114483031 114483031 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 114483031 114483031 G C SNP SLC35F5 ENST00000245680 human ensembl 74_37 -1 known missense c.1174 p.P392A 1.000 NULL pfam_DMT - no_errors SLC35F5 HGNC ENSG00000115084 86 0 0 52 35 40.2299 CNTNAP5 0 genome.wustl.edu 37 2 125262020 125262020 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 125262020 125262020 T G SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.1211 p.L404R 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_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,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 63 0 0 40 18 31.0345 NCKAP5 0 genome.wustl.edu 37 2 133489583 133489583 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 133489583 133489583 T G SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.5170 p.T1724P 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 39 0 0 26 16 38.0952 THSD7B 0 genome.wustl.edu 37 2 137814006 137814006 + Silent SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 137814006 137814006 T C SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known silent c.156 p.C52 0.727 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 43 0 0 66 4 5.71429 THSD7B 0 genome.wustl.edu 37 2 137852465 137852465 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 137852465 137852465 C T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.973 p.P325S 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 173 0 0 148 25 14.4509 LRP1B 0 genome.wustl.edu 37 2 141004675 141004675 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 141004675 141004675 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.13304 p.K4435T 0.998 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,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 LRP1B HGNC ENSG00000168702 25 0 0 19 17 47.2222 STAM2 0 genome.wustl.edu 37 2 152980367 152980367 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 152980367 152980367 C T SNP STAM2 ENST00000263904 human ensembl 74_37 -1 known missense c.1262 p.G421E 0.949 NULL pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM2 HGNC ENSG00000115145 49 0 0 44 3 6.38298 XIRP2 0 genome.wustl.edu 37 2 168115002 168115002 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 168115002 168115002 A T SNP XIRP2 ENST00000420519 human ensembl 74_37 +1 known missense c.2045 p.K682M 0.004 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 21 0 0 23 5 17.8571 DHRS9 0 genome.wustl.edu 37 2 169952128 169952128 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 169952128 169952128 G A SNP DHRS9 ENST00000432060 human ensembl 74_37 +1 known missense c.991 p.A331T 0.996 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 151 0 0 102 66 39.2857 LRP2 0 genome.wustl.edu 37 2 170038698 170038698 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 170038698 170038698 A T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.9977 p.L3326H 1.000 pfam_LDLR_classB_rpt,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 92 0 0 84 13 13.4021 DYNC1I2 0 genome.wustl.edu 37 2 172585298 172585298 + Silent SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 172585298 172585298 T C SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known silent c.1329 p.D443 0.997 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 22 0 0 26 2 7.14286 TTN 0 genome.wustl.edu 37 2 179586841 179586841 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 179586841 179586841 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.18817 p.F6273V 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 174 0 0 188 29 13.3641 TTN 0 genome.wustl.edu 37 2 179595331 179595331 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 179595331 179595331 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.14197 p.E4733K 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 105 1 0.943396 107 14 11.5702 TTN 0 genome.wustl.edu 37 2 179612541 179612541 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 179612541 179612541 T G SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.14586 p.E4862D 0.226 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 41 0 0 55 11 16.6667 TTN 0 genome.wustl.edu 37 2 179614133 179614133 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 179614133 179614133 T G SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.12994 p.K4332Q 0.987 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 94 0 0 97 15 13.3929 TTN 0 genome.wustl.edu 37 2 179644153 179644153 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 179644153 179644153 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.3766 p.K1256E 1.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 21 0 0 18 9 33.3333 MSGN1 0 genome.wustl.edu 37 2 17998077 17998077 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 17998077 17998077 T G SNP MSGN1 ENST00000281047 human ensembl 74_37 +1 known missense c.292 p.L98V 0.002 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MSGN1 HGNC ENSG00000151379 50 0 0 52 4 7.14286 GLS 0 genome.wustl.edu 37 2 191796341 191796341 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 191796341 191796341 G A SNP GLS ENST00000320717 human ensembl 74_37 +1 known missense c.1628 p.R543Q 1.000 NULL pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS HGNC ENSG00000115419 53 0 0 61 10 14.0845 DNAH7 0 genome.wustl.edu 37 2 196762419 196762419 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 196762419 196762419 A C SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.4619 p.F1540C 1.000 superfamily_P-loop_NTPase 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 50 0 0 18 10 35.7143 ZDBF2 0 genome.wustl.edu 37 2 207170929 207170929 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 207170929 207170929 A C SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.1677 p.E559D 0.001 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 27 0 0 9 14 60.8696 MAP2 0 genome.wustl.edu 37 2 210558338 210558338 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 210558338 210558338 T G SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.1444 p.S482A 0.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 39 0 0 39 4 9.30233 DNPEP 0 genome.wustl.edu 37 2 220239643 220239643 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 220239643 220239643 C T SNP DNPEP ENST00000273075 human ensembl 74_37 -1 known silent c.1341 p.L447 1.000 pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18 pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18 - no_errors DNPEP HGNC ENSG00000123992 53 0 0 29 2 6.45161 PAX3 0 genome.wustl.edu 37 2 223160324 223160324 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 223160324 223160324 T G SNP PAX3 ENST00000392069 human ensembl 74_37 -1 known missense c.374 p.N125T 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 90 0 0 46 10 17.8571 SCG2 0 genome.wustl.edu 37 2 224462806 224462806 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 224462806 224462806 A C SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known missense c.1195 p.L399V 0.001 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 68 0 0 29 29 50 IRS1 0 genome.wustl.edu 37 2 227662033 227662033 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 227662033 227662033 G A SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known silent c.1422 p.S474 1.000 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 162 0 0 40 66 62.2642 DNAJC5G 0 genome.wustl.edu 37 2 27503062 27503062 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 27503062 27503062 A C SNP DNAJC5G ENST00000296097 human ensembl 74_37 +1 known missense c.549 p.E183D 0.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC5G HGNC ENSG00000163793 287 0 0 110 88 44.4444 SUPT7L 0 genome.wustl.edu 37 2 27880285 27880285 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 27880285 27880285 C T SNP SUPT7L ENST00000337768 human ensembl 74_37 -1 known missense c.671 p.G224D 1.000 pfam_BTP,smart_BTP pfam_BTP,smart_BTP - no_errors SUPT7L HGNC ENSG00000119760 55 0 0 24 24 50 CLIP4 0 genome.wustl.edu 37 2 29383324 29383324 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 29383324 29383324 T G SNP CLIP4 ENST00000320081 human ensembl 74_37 +1 known missense c.1525 p.F509V 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 68 0 0 63 4 5.97015 ALK 0 genome.wustl.edu 37 2 29450510 29450510 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 29450510 29450510 G A SNP ALK ENST00000389048 human ensembl 74_37 -1 known silent c.2844 p.P948 0.705 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 130 0 0 88 21 19.2661 ALK 0 genome.wustl.edu 37 2 29754908 29754908 + Missense_Mutation SNP C C G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 29754908 29754908 C G SNP ALK ENST00000389048 human ensembl 74_37 -1 known missense c.1027 p.E343Q 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom 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 52 0 0 23 29 55.7692 MYADML 0 genome.wustl.edu 37 2 33952741 33952741 + RNA SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 33952741 33952741 G T SNP MYADML ENST00000474610 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MYADML HGNC ENSG00000239649 61 0 0 22 20 47.619 STRN 0 genome.wustl.edu 37 2 37096829 37096829 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 37096829 37096829 T G SNP STRN ENST00000263918 human ensembl 74_37 -1 known missense c.1367 p.K456T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN HGNC ENSG00000115808 33 0 0 32 3 8.57143 HEATR5B 0 genome.wustl.edu 37 2 37289138 37289138 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 37289138 37289138 A G SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.1640 p.L547P 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 107 0 0 65 24 26.9663 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48896962 48896962 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 48896962 48896962 A C SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known missense c.3192 p.E1064D 0.188 pfam_TFIIA_asu/bsu pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 81 0 0 79 6 7.05882 CCDC88A 0 genome.wustl.edu 37 2 55527028 55527028 + Missense_Mutation SNP C C G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 55527028 55527028 C G SNP CCDC88A ENST00000436346 human ensembl 74_37 -1 known missense c.4772 p.G1591A 1.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 143 0 0 71 63 47.0149 FAM161A 0 genome.wustl.edu 37 2 62069423 62069423 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 62069423 62069423 G T SNP FAM161A ENST00000405894 human ensembl 74_37 -1 known missense c.256 p.P86T 0.976 NULL pfam_UPF0564 - no_errors FAM161A HGNC ENSG00000170264 10 0 0 9 3 25 CNRIP1 0 genome.wustl.edu 37 2 68544218 68544218 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 68544218 68544218 G T SNP CNRIP1 ENST00000409862 human ensembl 74_37 -1 putative missense c.401 p.T134N 0.001 NULL NULL - no_errors CNRIP1 HGNC ENSG00000119865 80 0 0 32 25 43.8596 CLEC4F 0 genome.wustl.edu 37 2 71039670 71039670 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 71039670 71039670 A G SNP CLEC4F ENST00000272367 human ensembl 74_37 -1 known missense c.1448 p.F483S 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC ENSG00000152672 180 0 0 115 35 23.3333 ELMOD3 0 genome.wustl.edu 37 2 85584355 85584355 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 85584355 85584355 G C SNP ELMOD3 ENST00000315658 human ensembl 74_37 +1 known missense c.34 p.E12Q 0.987 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD3 HGNC ENSG00000115459 67 0 0 27 21 43.75 EIF2AK3 0 genome.wustl.edu 37 2 88874887 88874887 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 88874887 88874887 G T SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known missense c.2114 p.T705K 0.998 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,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 104 0 0 77 29 27.3585 CNGA3 0 genome.wustl.edu 37 2 98996761 98996761 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 98996761 98996761 A G SNP CNGA3 ENST00000272602 human ensembl 74_37 +1 known silent c.339 p.Q113 0.523 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 65 0 0 60 9 13.0435 ANKEF1 0 genome.wustl.edu 37 20 10025099 10025099 + Nonsense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 20 10025099 10025099 C T SNP ANKEF1 ENST00000378380 human ensembl 74_37 +1 known nonsense c.604 p.R202* 0.999 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt - no_errors ANKEF1 HGNC ENSG00000132623 121 0 0 128 39 23.3533 MACROD2 0 genome.wustl.edu 37 20 15866408 15866408 + Splice_Site SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 20 15866408 15866408 G C SNP MACROD2 ENST00000310348 human ensembl 74_37 +1 known splice_site c.728-1 e10-1 1.000 - - - no_errors MACROD2 HGNC ENSG00000172264 119 0 0 150 24 13.7931 APMAP 0 genome.wustl.edu 37 20 24952138 24952138 + Missense_Mutation SNP C C A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 20 24952138 24952138 C A SNP APMAP ENST00000217456 human ensembl 74_37 -1 known missense c.496 p.A166S 1.000 pfam_SGL pfam_Strictosidine_synth_cons-reg,pfam_SGL - no_errors APMAP HGNC ENSG00000101474 82 0 0 127 38 23.0303 C20orf194 0 genome.wustl.edu 37 20 3296404 3296404 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 20 3296404 3296404 T C SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known missense c.1568 p.E523G 1.000 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 79 0 0 107 7 6.14035 GDF5 0 genome.wustl.edu 37 20 34025104 34025104 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 20 34025104 34025104 A G SNP GDF5 ENST00000374369 human ensembl 74_37 -1 known missense c.605 p.I202T 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 54 0 0 53 22 29.3333 DLGAP4 0 genome.wustl.edu 37 20 35152740 35152740 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 20 35152740 35152740 A C SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.2600 p.N867T 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 74 0 0 80 5 5.88235 CHD6 0 genome.wustl.edu 37 20 40033690 40033690 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 20 40033690 40033690 A G SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.7691 p.V2564A 0.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,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 CHD6 HGNC ENSG00000124177 181 0 0 157 90 36.4372 IFT52 0 genome.wustl.edu 37 20 42232466 42232466 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 20 42232466 42232466 G C SNP IFT52 ENST00000373030 human ensembl 74_37 +1 known missense c.274 p.E92Q 1.000 pfam_ABC_transp_unknown pfam_ABC_transp_unknown - no_errors IFT52 HGNC ENSG00000101052 89 0 0 89 43 32.5758 TSHZ2 0 genome.wustl.edu 37 20 51872267 51872267 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 20 51872267 51872267 T G SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.2270 p.L757R 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 74 0 0 119 49 29.1667 STX16-NPEPL1 0 genome.wustl.edu 37 20 57246276 57246276 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 20 57246276 57246276 G C SNP STX16-NPEPL1 ENST00000530122 human ensembl 74_37 +1 known missense c.715 p.E239Q 1.000 pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX16-NPEPL1 HGNC ENSG00000254995 111 0 0 133 39 22.6744 CDH26 0 genome.wustl.edu 37 20 58545194 58545194 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 20 58545194 58545194 G A SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known missense c.184 p.E62K 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 125 0 0 135 39 22.4138 PCMTD2 0 genome.wustl.edu 37 20 62891494 62891494 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 20 62891494 62891494 G C SNP PCMTD2 ENST00000308824 human ensembl 74_37 +1 known missense c.176 p.G59A 1.000 pfam_PCMT pfam_PCMT - no_errors PCMTD2 HGNC ENSG00000203880 128 0 0 132 49 27.0718 NRIP1 0 genome.wustl.edu 37 21 16338789 16338789 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 21 16338789 16338789 G C SNP NRIP1 ENST00000318948 human ensembl 74_37 -1 known missense c.1725 p.I575M 1.000 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 243 0 0 199 125 38.5802 B3GALT5 0 genome.wustl.edu 37 21 41033300 41033300 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 21 41033300 41033300 C T SNP B3GALT5 ENST00000343118 human ensembl 74_37 +1 known missense c.814 p.R272C 0.000 NULL pfam_Glyco_trans_31 - no_errors B3GALT5 HGNC ENSG00000183778 111 0 0 74 44 37.2881 DSCAM 0 genome.wustl.edu 37 21 41414515 41414515 + Missense_Mutation SNP C C G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 21 41414515 41414515 C G SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.5469 p.M1823I 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 107 0 0 68 34 33.3333 TRPM2 0 genome.wustl.edu 37 21 45838438 45838438 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 21 45838438 45838438 A C SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known missense c.3461 p.K1154T 0.215 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 191 0 0 163 21 11.413 CECR2 0 genome.wustl.edu 37 22 18016838 18016838 + Silent SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 22 18016838 18016838 G C SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel silent c.1089 p.L363 0.978 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 63 0 0 44 16 26.6667 TOP3B 0 genome.wustl.edu 37 22 22313991 22313991 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 22 22313991 22313991 C T SNP TOP3B ENST00000357179 human ensembl 74_37 -1 known missense c.1772 p.R591K 1.000 superfamily_Topo_IA_core_domain pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 141 0 0 91 75 45.1807 EWSR1 0 genome.wustl.edu 37 22 29695814 29695814 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 22 29695814 29695814 G T SNP EWSR1 ENST00000414183 human ensembl 74_37 +1 known missense c.1919 p.G640V 0.982 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC ENSG00000182944 20 0 0 13 3 18.75 TRIOBP 0 genome.wustl.edu 37 22 38151151 38151151 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 22 38151151 38151151 A G SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.5531 p.D1844G 0.704 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 24 0 0 10 4 28.5714 KCNJ4 0 genome.wustl.edu 37 22 38823739 38823739 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 22 38823739 38823739 C T SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known silent c.399 p.T133 0.987 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 88 0 0 42 39 48.1481 SLC15A2 0 genome.wustl.edu 37 3 121641917 121641917 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 3 121641917 121641917 A C SNP SLC15A2 ENST00000489711 human ensembl 74_37 +1 known missense c.898 p.T300P 1.000 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A2 HGNC ENSG00000163406 197 0 0 149 11 6.875 SEMA5B 0 genome.wustl.edu 37 3 122629130 122629130 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 3 122629130 122629130 A G SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known silent c.3478 p.L1160 1.000 NULL pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 114 0 0 35 27 43.5484 MYLK 0 genome.wustl.edu 37 3 123383036 123383036 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 3 123383036 123383036 G A SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.3901 p.R1301C 0.826 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 MYLK HGNC ENSG00000065534 181 0 0 115 23 16.6667 MFSD1 0 genome.wustl.edu 37 3 158538076 158538076 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 3 158538076 158538076 G A SNP MFSD1 ENST00000415822 human ensembl 74_37 +1 known missense c.971 p.C324Y 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD1 HGNC ENSG00000118855 96 0 0 25 77 75.4902 SATB1 0 genome.wustl.edu 37 3 18427901 18427901 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 3 18427901 18427901 C T SNP SATB1 ENST00000417717 human ensembl 74_37 -1 known missense c.1409 p.R470H 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 106 0 0 82 10 10.8696 KCNH8 0 genome.wustl.edu 37 3 19498345 19498345 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 3 19498345 19498345 T G SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.1911 p.C637W 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 41 0 0 27 11 28.9474 SCN5A 0 genome.wustl.edu 37 3 38616871 38616871 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 3 38616871 38616871 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.3583 p.R1195C 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 16 0 0 3 12 80 DOCK3 0 genome.wustl.edu 37 3 50971428 50971428 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 3 50971428 50971428 G T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.235 p.V79F 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 23 0 0 6 14 70 ERC2 0 genome.wustl.edu 37 3 56183132 56183132 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 3 56183132 56183132 T G SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known missense c.1178 p.N393T 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 47 0 0 28 10 26.3158 INTU 0 genome.wustl.edu 37 4 128627894 128627894 + Missense_Mutation SNP C C A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 4 128627894 128627894 C A SNP INTU ENST00000335251 human ensembl 74_37 +1 known missense c.2041 p.Q681K 0.037 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 100 0 0 32 46 58.9744 PCDH18 0 genome.wustl.edu 37 4 138451451 138451451 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 4 138451451 138451451 A C SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.1792 p.F598V 0.998 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 201 0 0 129 12 8.51064 F11 0 genome.wustl.edu 37 4 187197505 187197505 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 4 187197505 187197505 T G SNP F11 ENST00000403665 human ensembl 74_37 +1 known missense c.716 p.F239C 1.000 pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app,prints_Apple pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A - no_errors F11 HGNC ENSG00000088926 80 0 0 35 3 7.89474 KCNIP4 0 genome.wustl.edu 37 4 20751288 20751288 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 4 20751288 20751288 G A SNP KCNIP4 ENST00000382150 human ensembl 74_37 -1 known silent c.363 p.F121 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP4 HGNC ENSG00000185774 27 0 0 8 5 38.4615 OCIAD1 0 genome.wustl.edu 37 4 48853965 48853965 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 4 48853965 48853965 A G SNP OCIAD1 ENST00000264312 human ensembl 74_37 +1 known missense c.520 p.T174A 1.000 NULL pfam_OCIA - no_errors OCIAD1 HGNC ENSG00000109180 103 0 0 41 38 48.1013 AASDH 0 genome.wustl.edu 37 4 57221402 57221402 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 4 57221402 57221402 G A SNP AASDH ENST00000205214 human ensembl 74_37 -1 known missense c.1049 p.S350L 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 49 0 0 27 8 22.8571 EPHA5 0 genome.wustl.edu 37 4 66356240 66356240 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 4 66356240 66356240 G A SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known silent c.1257 p.S419 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 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,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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 42 0 0 23 25 52.0833 CENPC 0 genome.wustl.edu 37 4 68383923 68383923 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 4 68383923 68383923 T A SNP CENPC ENST00000273853 human ensembl 74_37 -1 known missense c.781 p.S261C 0.987 NULL pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC HGNC ENSG00000145241 11 0 0 7 5 41.6667 TMPRSS11B 0 genome.wustl.edu 37 4 69101927 69101927 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 4 69101927 69101927 T G SNP TMPRSS11B ENST00000332644 human ensembl 74_37 -1 known missense c.182 p.N61T 0.000 pfam_SEA_dom,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11B HGNC ENSG00000185873 30 0 0 17 5 22.7273 SH3TC1 0 genome.wustl.edu 37 4 8233834 8233834 + Nonsense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 4 8233834 8233834 C T SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known nonsense c.3082 p.Q1028* 0.994 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 63 0 0 26 6 18.75 KLHL8 0 genome.wustl.edu 37 4 88104378 88104378 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 4 88104378 88104378 G A SNP KLHL8 ENST00000273963 human ensembl 74_37 -1 known missense c.929 p.T310I 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL8 HGNC ENSG00000145332 85 0 0 52 7 11.8644 SNCAIP 0 genome.wustl.edu 37 5 121780267 121780267 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 5 121780267 121780267 G A SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known missense c.1573 p.E525K 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 102 0 0 107 22 17.0543 SLC27A6 0 genome.wustl.edu 37 5 128320858 128320858 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 5 128320858 128320858 A T SNP SLC27A6 ENST00000262462 human ensembl 74_37 +1 known missense c.514 p.S172C 0.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A6 HGNC ENSG00000113396 31 0 0 33 6 15.3846 PCDHA7 0 genome.wustl.edu 37 5 140216062 140216062 + Silent SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 5 140216062 140216062 G T SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known silent c.2094 p.V698 0.997 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 126 1 0.787402 123 10 7.5188 PCDHB7 0 genome.wustl.edu 37 5 140554036 140554036 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 5 140554036 140554036 G A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known silent c.1620 p.A540 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 PCDHB7 HGNC ENSG00000113212 75 0 0 65 43 39.8148 PCDHB8 0 genome.wustl.edu 37 5 140559856 140559856 + Silent SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 5 140559856 140559856 T C SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known silent c.2241 p.S747 0.141 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 144 0 0 161 28 14.8148 PCDHB12 0 genome.wustl.edu 37 5 140588829 140588829 + Nonsense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 5 140588829 140588829 T A SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known nonsense c.350 p.L117* 0.004 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 160 0 0 93 63 40.3846 PCDHGA4 0 genome.wustl.edu 37 5 140734980 140734980 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 5 140734980 140734980 G A SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known silent c.213 p.R71 0.123 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 121 0 0 133 8 5.67376 ADAM19 0 genome.wustl.edu 37 5 156918907 156918907 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 5 156918907 156918907 C T SNP ADAM19 ENST00000394020 human ensembl 74_37 -1 known missense c.1928 p.G643E 1.000 smart_ADAM_Cys-rich 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 ADAM19 HGNC ENSG00000135074 54 0 0 31 6 16.2162 GABRA1 0 genome.wustl.edu 37 5 161322838 161322838 + Silent SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 5 161322838 161322838 T G SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known silent c.1023 p.G341 0.975 superfamily_Neurotrans-gated_channel_TM,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_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 88 0 0 90 7 7.21649 ZNF354C 0 genome.wustl.edu 37 5 178505938 178505938 + Silent SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 5 178505938 178505938 T C SNP ZNF354C ENST00000315475 human ensembl 74_37 +1 known silent c.505 p.L169 0.066 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 ZNF354C HGNC ENSG00000177932 91 0 0 100 7 6.54206 DNAJC21 0 genome.wustl.edu 37 5 34941212 34941212 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 5 34941212 34941212 G A SNP DNAJC21 ENST00000382021 human ensembl 74_37 +1 known missense c.907 p.D303N 0.997 NULL pfam_DnaJ_domain,pfam_Znf_C2H2_jaz,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC21 HGNC ENSG00000168724 98 0 0 54 25 31.6456 LIFR 0 genome.wustl.edu 37 5 38490328 38490328 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 5 38490328 38490328 A G SNP LIFR ENST00000263409 human ensembl 74_37 -1 known silent c.2131 p.L711 0.595 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 103 0 0 75 38 33.6283 RICTOR 0 genome.wustl.edu 37 5 39002699 39002699 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 5 39002699 39002699 G A SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known silent c.330 p.L110 0.865 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 160 1 0.621118 106 58 35.3659 NNT 0 genome.wustl.edu 37 5 43619206 43619206 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 5 43619206 43619206 A C SNP NNT ENST00000264663 human ensembl 74_37 +1 known missense c.672 p.K224N 1.000 pfam_AlaDH/PNT_NAD(H)-bd,tigrfam_NADP_transhyd_a pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 44 0 0 37 5 11.9048 ADCY2 0 genome.wustl.edu 37 5 7820785 7820785 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 5 7820785 7820785 G T SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.3106 p.V1036F 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_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 ADCY2 HGNC ENSG00000078295 79 0 0 39 28 41.791 BEND3 0 genome.wustl.edu 37 6 107390518 107390518 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 6 107390518 107390518 T G SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known missense c.1877 p.K626T 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 43 0 0 29 4 12.1212 ROS1 0 genome.wustl.edu 37 6 117632217 117632217 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 6 117632217 117632217 A C SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.6199 p.C2067G 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 64 0 0 83 10 10.7527 FABP7 0 genome.wustl.edu 37 6 123102375 123102375 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 6 123102375 123102375 T G SNP FABP7 ENST00000356535 human ensembl 74_37 +1 known missense c.384 p.F128L 0.000 superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP7 HGNC ENSG00000164434 13 0 0 20 3 13.0435 C6orf58 0 genome.wustl.edu 37 6 127911272 127911272 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 6 127911272 127911272 A C SNP C6orf58 ENST00000329722 human ensembl 74_37 +1 known missense c.715 p.S239R 0.002 pfam_DUF781 pfam_DUF781 - no_errors C6orf58 HGNC ENSG00000184530 93 0 0 15 73 82.9545 BCLAF1 0 genome.wustl.edu 37 6 136593131 136593131 + Splice_Site SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 6 136593131 136593131 A C SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known splice_site c.2043+2 e6+2 1.000 - - - no_errors BCLAF1 HGNC ENSG00000029363 39 0 0 51 5 8.92857 OLIG3 0 genome.wustl.edu 37 6 137814944 137814944 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 6 137814944 137814944 A T SNP OLIG3 ENST00000367734 human ensembl 74_37 -1 known missense c.364 p.S122T 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors OLIG3 HGNC ENSG00000177468 107 0 0 84 7 7.69231 SYNE1 0 genome.wustl.edu 37 6 152603109 152603109 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 6 152603109 152603109 A C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.18214 p.L6072V 0.130 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 73 0 0 11 29 72.5 TTLL2 0 genome.wustl.edu 37 6 167754541 167754541 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 6 167754541 167754541 T G SNP TTLL2 ENST00000239587 human ensembl 74_37 +1 known missense c.1153 p.L385V 0.165 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL2 HGNC ENSG00000120440 196 0 0 188 24 11.3208 FAM65B 0 genome.wustl.edu 37 6 24873165 24873165 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 6 24873165 24873165 T C SNP FAM65B ENST00000259698 human ensembl 74_37 -1 known missense c.280 p.T94A 1.000 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 99 0 0 15 32 68.0851 MUC21 0 genome.wustl.edu 37 6 30955031 30955031 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 6 30955031 30955031 C T SNP MUC21 ENST00000376296 human ensembl 74_37 +1 known missense c.1079 p.A360V 0.023 NULL NULL - no_errors MUC21 HGNC ENSG00000204544 157 1 0.632911 64 8 11.1111 PRRC2A 0 genome.wustl.edu 37 6 31591675 31591675 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 6 31591675 31591675 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known silent c.279 p.S93 1.000 pfam_BAT2_N pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 67 0 0 53 180 77.2532 DNAH8 0 genome.wustl.edu 37 6 38783350 38783350 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 6 38783350 38783350 G A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.2789 p.R930H 0.007 NULL 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 DNAH8 HGNC ENSG00000124721 21 0 0 24 6 20 PTCHD4 0 genome.wustl.edu 37 6 47846507 47846507 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 6 47846507 47846507 G A SNP PTCHD4 ENST00000339488 human ensembl 74_37 -1 known silent c.2073 p.S691 0.012 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 35 0 0 37 23 38.3333 TFAP2D 0 genome.wustl.edu 37 6 50712857 50712857 + Silent SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 6 50712857 50712857 T C SNP TFAP2D ENST00000008391 human ensembl 74_37 +1 known silent c.921 p.T307 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 50 0 0 49 3 5.76923 DST 0 genome.wustl.edu 37 6 56504281 56504281 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 6 56504281 56504281 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.2727 p.N909 0.899 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 106 0 0 93 39 29.5455 F13A1 0 genome.wustl.edu 37 6 6266940 6266940 + Missense_Mutation SNP C C A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 6 6266940 6266940 C A SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known missense c.422 p.R141M 0.123 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 69 0 0 33 7 17.5 PGM3 0 genome.wustl.edu 37 6 83889610 83889610 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 6 83889610 83889610 A G SNP PGM3 ENST00000513973 human ensembl 74_37 -1 known silent c.864 p.D288 0.104 pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM - no_errors PGM3 HGNC ENSG00000013375 64 0 0 67 10 12.987 MDN1 0 genome.wustl.edu 37 6 90405430 90405430 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 6 90405430 90405430 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.9665 p.S3222N 0.998 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 65 0 0 63 9 12.5 ACHE 0 genome.wustl.edu 37 7 100490117 100490117 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 7 100490117 100490117 C T SNP ACHE ENST00000302913 human ensembl 74_37 -1 known missense c.1391 p.R464H 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 67 0 0 34 37 52.1127 RELN 0 genome.wustl.edu 37 7 103191603 103191603 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 7 103191603 103191603 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known silent c.6213 p.T2071 0.157 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 50 0 0 35 27 43.5484 RELN 0 genome.wustl.edu 37 7 103338447 103338447 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 7 103338447 103338447 A G SNP RELN ENST00000424685 human ensembl 74_37 -1 known silent c.996 p.N332 0.001 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 152 0 0 186 19 9.26829 PIK3CG 0 genome.wustl.edu 37 7 106545572 106545572 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 7 106545572 106545572 T C SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.3049 p.Y1017H 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 142 0 0 107 91 45.9596 COG5 0 genome.wustl.edu 37 7 106924093 106924093 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 7 106924093 106924093 G C SNP COG5 ENST00000297135 human ensembl 74_37 -1 known missense c.1491 p.I497M 1.000 NULL pfam_Cog5 - no_errors COG5 HGNC ENSG00000164597 106 1 0.934579 116 20 14.7059 FOXP2 0 genome.wustl.edu 37 7 114303506 114303506 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 7 114303506 114303506 A C SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known missense c.1846 p.S616R 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 67 0 0 47 40 45.977 LMOD2 0 genome.wustl.edu 37 7 123302861 123302861 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 7 123302861 123302861 C T SNP LMOD2 ENST00000458573 human ensembl 74_37 +1 known silent c.1221 p.V407 0.055 NULL pfam_Tropomodulin,pfscan_WH2_dom - no_errors LMOD2 HGNC ENSG00000170807 39 0 0 72 5 6.49351 SLC37A3 0 genome.wustl.edu 37 7 140082276 140082276 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 7 140082276 140082276 G A SNP SLC37A3 ENST00000326232 human ensembl 74_37 -1 known silent c.51 p.S17 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A3 HGNC ENSG00000157800 82 0 0 58 25 30.1205 DNAH11 0 genome.wustl.edu 37 7 21631031 21631031 + Nonsense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 7 21631031 21631031 A T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known nonsense c.2503 p.K835* 0.000 NULL 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 54 0 0 49 16 24.6154 CCDC129 0 genome.wustl.edu 37 7 31690791 31690791 + Silent SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 7 31690791 31690791 A T SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known silent c.2697 p.I899 0.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 96 0 0 74 51 40.8 POU6F2 0 genome.wustl.edu 37 7 39247145 39247145 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 7 39247145 39247145 T C SNP POU6F2 ENST00000403058 human ensembl 74_37 +1 known missense c.437 p.L146P 1.000 NULL 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 57 0 0 90 7 7.21649 IGFBP3 0 genome.wustl.edu 37 7 45956889 45956889 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 7 45956889 45956889 G A SNP IGFBP3 ENST00000381083 human ensembl 74_37 -1 known missense c.571 p.R191C 1.000 superfamily_Thyroglobulin_1,prints_IGFBP-3 pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-3,pfscan_Thyroglobulin_1 - no_errors IGFBP3 HGNC ENSG00000146674 150 0 0 99 93 48.4375 PSPH 0 genome.wustl.edu 37 7 56087373 56087373 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 7 56087373 56087373 G C SNP PSPH ENST00000427797 human ensembl 74_37 -1 known missense c.269 p.A90G 0.914 NULL superfamily_HAD-like_dom - no_errors PSPH HGNC ENSG00000146733 36 0 0 26 23 46.9388 ZNF273 0 genome.wustl.edu 37 7 64388278 64388278 + Nonsense_Mutation SNP C C G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 7 64388278 64388278 C G SNP ZNF273 ENST00000476120 human ensembl 74_37 +1 known nonsense c.572 p.S191* 0.001 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 ZNF273 HGNC ENSG00000198039 77 0 0 47 32 40.5063 SEMA3A 0 genome.wustl.edu 37 7 83631275 83631275 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 7 83631275 83631275 A C SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known missense c.1448 p.F483C 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 23 0 0 46 3 6.12245 GRM3 0 genome.wustl.edu 37 7 86468386 86468386 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 7 86468386 86468386 A C SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.1556 p.K519T 1.000 pfam_GPCR_3_9-Cys_dom 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,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 78 0 0 79 53 40.1515 KIAA1324L 0 genome.wustl.edu 37 7 86539263 86539263 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 7 86539263 86539263 T G SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known missense c.2224 p.I742L 1.000 superfamily_Man6P_isomerase_rcpt-bd_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 60 0 0 51 24 32 CDK14 0 genome.wustl.edu 37 7 90675256 90675256 + Silent SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 7 90675256 90675256 T A SNP CDK14 ENST00000380050 human ensembl 74_37 +1 known silent c.1086 p.S362 0.998 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK14 HGNC ENSG00000058091 48 0 0 55 4 6.77966 SPAG1 0 genome.wustl.edu 37 8 101252743 101252743 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 8 101252743 101252743 T G SNP SPAG1 ENST00000251809 human ensembl 74_37 +1 known missense c.2393 p.L798R 0.013 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 45 0 0 53 20 27.3973 DCSTAMP 0 genome.wustl.edu 37 8 105361735 105361735 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 8 105361735 105361735 C T SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known missense c.955 p.R319W 0.995 pfam_DC_STAMP-like,superfamily_ABC1_TM_dom pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 259 0 0 150 148 49.6644 PTK2 0 genome.wustl.edu 37 8 141745365 141745365 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 8 141745365 141745365 A G SNP PTK2 ENST00000395218 human ensembl 74_37 -1 known missense c.2015 p.L672P 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC ENSG00000169398 18 0 0 19 4 17.3913 PPP1R16A 0 genome.wustl.edu 37 8 145725526 145725526 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 8 145725526 145725526 A T SNP PPP1R16A ENST00000292539 human ensembl 74_37 +1 known missense c.524 p.D175V 1.000 superfamily_Ankyrin_rpt-contain_dom,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R16A HGNC ENSG00000160972 15 0 0 18 6 25 TUSC3 0 genome.wustl.edu 37 8 15621747 15621747 + RNA SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 8 15621747 15621747 A G SNP TUSC3 ENST00000508446 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUSC3 HGNC ENSG00000104723 40 0 0 17 15 46.875 SLC7A2 0 genome.wustl.edu 37 8 17409284 17409284 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 8 17409284 17409284 C T SNP SLC7A2 ENST00000004531 human ensembl 74_37 +1 known missense c.964 p.R322W 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 129 0 0 44 49 52.6882 LZTS1 0 genome.wustl.edu 37 8 20112401 20112401 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 8 20112401 20112401 A C SNP LZTS1 ENST00000265801 human ensembl 74_37 -1 known missense c.292 p.F98V 0.998 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 54 0 0 32 4 11.1111 PDLIM2 0 genome.wustl.edu 37 8 22442530 22442530 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 8 22442530 22442530 G A SNP PDLIM2 ENST00000308354 human ensembl 74_37 +1 known missense c.1066 p.G356S 0.951 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM2 HGNC ENSG00000120913 122 0 0 48 4 7.69231 FUT10 0 genome.wustl.edu 37 8 33246606 33246606 + Nonsense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 8 33246606 33246606 G A SNP FUT10 ENST00000327671 human ensembl 74_37 -1 known nonsense c.1087 p.R363* 0.998 pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT10 HGNC ENSG00000172728 135 0 0 61 9 12.8571 GOT1L1 0 genome.wustl.edu 37 8 37791994 37791994 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 8 37791994 37791994 C T SNP GOT1L1 ENST00000307599 human ensembl 74_37 -1 known silent c.1083 p.V361 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans - no_errors GOT1L1 HGNC ENSG00000169154 207 1 0.480769 108 19 14.9606 FAM110B 0 genome.wustl.edu 37 8 59059700 59059700 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 8 59059700 59059700 T C SNP FAM110B ENST00000361488 human ensembl 74_37 +1 known missense c.911 p.I304T 0.995 NULL NULL - no_errors FAM110B HGNC ENSG00000169122 77 0 0 50 50 50 CNBD1 0 genome.wustl.edu 37 8 88365898 88365898 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 8 88365898 88365898 T C SNP CNBD1 ENST00000518476 human ensembl 74_37 +1 known missense c.1187 p.L396P 0.229 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 57 0 0 63 32 33.6842 MMP16 0 genome.wustl.edu 37 8 89058904 89058904 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 8 89058904 89058904 T A SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.1482 p.K494N 1.000 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 64 0 0 65 20 23.5294 C8orf47 0 genome.wustl.edu 37 8 99101943 99101943 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 8 99101943 99101943 G C SNP C8orf47 ENST00000318528 human ensembl 74_37 +1 known missense c.698 p.G233A 0.000 NULL NULL - no_errors C8orf47 HGNC ENSG00000177459 27 0 0 25 16 39.0244 CYLC2 0 genome.wustl.edu 37 9 105767737 105767737 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 9 105767737 105767737 A C SNP CYLC2 ENST00000374798 human ensembl 74_37 +1 known missense c.824 p.K275T 0.003 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 29 0 0 56 5 8.19672 MPDZ 0 genome.wustl.edu 37 9 13192277 13192277 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 9 13192277 13192277 T A SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.1821 p.L607F 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 10 0 0 10 7 41.1765 COL5A1 0 genome.wustl.edu 37 9 137622253 137622253 + Nonsense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 9 137622253 137622253 C T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known nonsense c.1096 p.Q366* 0.016 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 89 0 0 77 42 35.2941 CACNA1B 0 genome.wustl.edu 37 9 141006876 141006876 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 9 141006876 141006876 G A SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.5458 p.A1820T 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 59 0 0 33 21 38.8889 CNTLN 0 genome.wustl.edu 37 9 17273831 17273831 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 9 17273831 17273831 T G SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.950 p.L317R 1.000 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 114 0 0 113 22 16.2963 ADAMTSL1 0 genome.wustl.edu 37 9 18795443 18795443 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 9 18795443 18795443 A C SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel missense c.3726 p.E1242D 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 72 0 0 93 8 7.92079 AK3 0 genome.wustl.edu 37 9 4719266 4719266 + Missense_Mutation SNP C C A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 9 4719266 4719266 C A SNP AK3 ENST00000381809 human ensembl 74_37 -1 known missense c.313 p.A105S 0.004 pfam_Adenylate_kin,superfamily_P-loop_NTPase,tigrfam_Adenyl_kin_sub pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub - no_errors AK3 HGNC ENSG00000147853 73 0 0 58 28 32.5581 RANBP6 0 genome.wustl.edu 37 9 6012492 6012492 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 9 6012492 6012492 T C SNP RANBP6 ENST00000259569 human ensembl 74_37 -1 known missense c.3116 p.N1039S 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 56 0 0 43 29 40.2778 SPATA31D1 0 genome.wustl.edu 37 9 84610036 84610036 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 9 84610036 84610036 T G SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.4651 p.F1551V 0.001 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 12 0 0 13 10 43.4783 KIF27 0 genome.wustl.edu 37 9 86518567 86518567 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 9 86518567 86518567 G A SNP KIF27 ENST00000297814 human ensembl 74_37 -1 known missense c.866 p.S289L 0.320 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 115 0 0 64 51 44.3478 CTSL 0 genome.wustl.edu 37 9 90344590 90344590 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 9 90344590 90344590 G A SNP CTSL ENST00000340342 human ensembl 74_37 +1 known missense c.724 p.V242M 0.969 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSL HGNC ENSG00000135047 96 0 0 85 16 15.8416 WBP5 0 genome.wustl.edu 37 X 102612766 102612766 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 102612766 102612766 T A SNP WBP5 ENST00000372656 human ensembl 74_37 +1 known missense c.154 p.S52T 0.935 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors WBP5 HGNC ENSG00000185222 87 0 0 128 12 8.57143 TCEAL3 0 genome.wustl.edu 37 X 102864315 102864315 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 102864315 102864315 G A SNP TCEAL3 ENST00000243286 human ensembl 74_37 +1 known missense c.323 p.R108Q 0.997 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL3 HGNC ENSG00000196507 175 0 0 162 75 31.6456 FAM199X 0 genome.wustl.edu 37 X 103431172 103431172 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 103431172 103431172 T C SNP FAM199X ENST00000493442 human ensembl 74_37 +1 known missense c.599 p.V200A 1.000 NULL NULL - no_errors FAM199X HGNC ENSG00000123575 83 0 0 116 7 5.69106 MUM1L1 0 genome.wustl.edu 37 X 105450489 105450489 + Missense_Mutation SNP C C A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 105450489 105450489 C A SNP MUM1L1 ENST00000337685 human ensembl 74_37 +1 known missense c.1064 p.S355Y 0.001 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MUM1L1 HGNC ENSG00000157502 31 0 0 37 7 15.9091 ATG4A 0 genome.wustl.edu 37 X 107396918 107396918 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 107396918 107396918 A C SNP ATG4A ENST00000372232 human ensembl 74_37 +1 known missense c.1173 p.E391D 1.000 NULL pfam_Peptidase_C54 - no_errors ATG4A HGNC ENSG00000101844 163 0 0 207 35 14.4628 COL4A5 0 genome.wustl.edu 37 X 107917968 107917968 + RNA SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 107917968 107917968 T C SNP COL4A5 ENST00000510690 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors COL4A5 HGNC ENSG00000188153 86 0 0 147 26 15.0289 TDGF1P3 0 genome.wustl.edu 37 X 109764906 109764906 + RNA SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 109764906 109764906 T G SNP TDGF1P3 ENST00000602699 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors TDGF1P3 HGNC ENSG00000225366 58 0 0 102 6 5.55556 AMELX 0 genome.wustl.edu 37 X 11316822 11316822 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 11316822 11316822 T G SNP AMELX ENST00000380712 human ensembl 74_37 +1 known missense c.341 p.M114R 1.000 pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin - no_errors AMELX HGNC ENSG00000125363 146 0 0 157 10 5.98802 DOCK11 0 genome.wustl.edu 37 X 117700536 117700536 + Splice_Site SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 117700536 117700536 G A SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known splice_site c.872-1 e9-1 1.000 - - - no_errors DOCK11 HGNC ENSG00000147251 34 0 0 36 12 25 GLUD2 0 genome.wustl.edu 37 X 120182817 120182817 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 120182817 120182817 G T SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known missense c.1279 p.D427Y 1.000 pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 222 0 0 273 63 18.75 TENM1 0 genome.wustl.edu 37 X 123540219 123540219 + Silent SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 123540219 123540219 G T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known silent c.5103 p.V1701 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 174 0 0 177 76 30.0395 TENM1 0 genome.wustl.edu 37 X 123775705 123775705 + Silent SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 123775705 123775705 A C SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known silent c.2013 p.T671 0.993 pfam_EGF_extracell,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 242 1 0.411523 280 104 27.0833 TLR7 0 genome.wustl.edu 37 X 12905418 12905418 + Silent SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 12905418 12905418 T A SNP TLR7 ENST00000380659 human ensembl 74_37 +1 known silent c.1791 p.V597 0.024 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 126 0 0 122 57 31.8436 BCORL1 0 genome.wustl.edu 37 X 129159091 129159091 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 129159091 129159091 A G SNP BCORL1 ENST00000303743 human ensembl 74_37 +1 known missense c.3815 p.Q1272R 0.990 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 145 0 0 183 14 7.1066 LDOC1 0 genome.wustl.edu 37 X 140271010 140271010 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 140271010 140271010 T A SNP LDOC1 ENST00000370526 human ensembl 74_37 -1 known missense c.197 p.E66V 1.000 NULL NULL - no_errors LDOC1 HGNC ENSG00000182195 73 0 0 70 41 36.9369 AFF2 0 genome.wustl.edu 37 X 147743468 147743468 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 147743468 147743468 A T SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.220 p.T74S 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 208 0 0 213 32 13.0612 MECP2 0 genome.wustl.edu 37 X 153296057 153296057 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 153296057 153296057 A G SNP MECP2 ENST00000303391 human ensembl 74_37 -1 known silent c.1222 p.L408 1.000 pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 164 0 0 207 24 10.3896 GDI1 0 genome.wustl.edu 37 X 153668347 153668347 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 153668347 153668347 T C SNP GDI1 ENST00000447750 human ensembl 74_37 +1 known missense c.448 p.F150L 1.000 pfam_GDP_dissociation_inhibitor,prints_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI1 HGNC ENSG00000203879 600 0 0 636 63 9.01288 ACE2 0 genome.wustl.edu 37 X 15599426 15599426 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 15599426 15599426 T G SNP ACE2 ENST00000252519 human ensembl 74_37 -1 known missense c.988 p.N330H 0.993 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE2 HGNC ENSG00000130234 153 0 0 192 25 11.5207 MAP3K15 0 genome.wustl.edu 37 X 19431562 19431562 + Silent SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 19431562 19431562 G C SNP MAP3K15 ENST00000338883 human ensembl 74_37 -1 known silent c.1611 p.T537 0.939 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K15 HGNC ENSG00000180815 115 0 0 64 64 50 GYG2 0 genome.wustl.edu 37 X 2799210 2799210 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 2799210 2799210 G A SNP GYG2 ENST00000381163 human ensembl 74_37 +1 known missense c.1462 p.A488T 0.015 NULL pfam_Glyco_trans_8 - no_errors GYG2 HGNC ENSG00000056998 15 0 0 18 3 14.2857 DMD 0 genome.wustl.edu 37 X 31645908 31645908 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 31645908 31645908 T G SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.8099 p.K2700T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 32 0 0 29 3 9.375 MAGEB16 0 genome.wustl.edu 37 X 35820769 35820769 + Silent SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 35820769 35820769 T C SNP MAGEB16 ENST00000399992 human ensembl 74_37 +1 known silent c.552 p.S184 0.010 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB16 HGNC ENSG00000189023 93 0 0 83 35 29.661 ATP6AP2 0 genome.wustl.edu 37 X 40460100 40460100 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 40460100 40460100 G C SNP ATP6AP2 ENST00000378438 human ensembl 74_37 +1 known missense c.825 p.R275S 1.000 pfam_Renin_rcpt pfam_Renin_rcpt - no_errors ATP6AP2 HGNC ENSG00000182220 112 0 0 43 41 48.8095 USP11 0 genome.wustl.edu 37 X 47104478 47104478 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 47104478 47104478 A T SNP USP11 ENST00000218348 human ensembl 74_37 +1 known missense c.2279 p.E760V 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP11 HGNC ENSG00000102226 29 0 0 41 4 8.88889 SYN1 0 genome.wustl.edu 37 X 47434138 47434138 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 47434138 47434138 T C SNP SYN1 ENST00000295987 human ensembl 74_37 -1 known missense c.1342 p.T448A 1.000 NULL pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin - no_errors SYN1 HGNC ENSG00000008056 10 0 0 14 8 36.3636 ZNF81 0 genome.wustl.edu 37 X 47775719 47775719 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 47775719 47775719 T A SNP ZNF81 ENST00000338637 human ensembl 74_37 +1 known missense c.1674 p.D558E 0.006 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 ZNF81 HGNC ENSG00000197779 40 0 0 42 5 10.6383 IQSEC2 0 genome.wustl.edu 37 X 53265548 53265548 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 53265548 53265548 T G SNP IQSEC2 ENST00000396435 human ensembl 74_37 -1 known missense c.3407 p.K1136T 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 26 0 0 15 3 16.6667 ALAS2 0 genome.wustl.edu 37 X 55041235 55041235 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 55041235 55041235 A C SNP ALAS2 ENST00000330807 human ensembl 74_37 -1 known missense c.1382 p.L461R 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 20 0 0 9 6 40 LAS1L 0 genome.wustl.edu 37 X 64738169 64738169 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 64738169 64738169 G A SNP LAS1L ENST00000374811 human ensembl 74_37 -1 known missense c.1625 p.A542V 0.004 NULL pfam_Las1 - no_errors LAS1L HGNC ENSG00000001497 165 0 0 131 13 9.02778 CXorf65 0 genome.wustl.edu 37 X 70323883 70323883 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 70323883 70323883 T G SNP CXorf65 ENST00000374251 human ensembl 74_37 -1 known missense c.506 p.K169T 0.000 NULL NULL - no_errors CXorf65 HGNC ENSG00000204165 87 0 0 61 7 10.2941 ITGB1BP2 0 genome.wustl.edu 37 X 70523493 70523493 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 70523493 70523493 A T SNP ITGB1BP2 ENST00000373829 human ensembl 74_37 +1 known missense c.485 p.E162V 0.988 pfam_CHORD pfam_CHORD,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors ITGB1BP2 HGNC ENSG00000147166 78 0 0 73 7 8.75 NHSL2 0 genome.wustl.edu 37 X 71360037 71360037 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 71360037 71360037 G A SNP NHSL2 ENST00000540800 human ensembl 74_37 +1 known missense c.2639 p.R880K 1.000 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 74 0 0 62 10 13.8889 NHSL2 0 genome.wustl.edu 37 X 71360088 71360088 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 71360088 71360088 T C SNP NHSL2 ENST00000540800 human ensembl 74_37 +1 known missense c.2690 p.L897P 0.972 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 102 0 0 56 42 42.8571 NAP1L2 0 genome.wustl.edu 37 X 72433801 72433801 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 72433801 72433801 A G SNP NAP1L2 ENST00000373517 human ensembl 74_37 -1 known silent c.528 p.D176 0.947 pfam_NAP_family pfam_NAP_family - no_errors NAP1L2 HGNC ENSG00000186462 155 0 0 139 9 6.08108 RLIM 0 genome.wustl.edu 37 X 73812036 73812036 + Silent SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 73812036 73812036 G T SNP RLIM ENST00000332687 human ensembl 74_37 -1 known silent c.1114 p.R372 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 105 0 0 132 22 14.2857 ATRX 0 genome.wustl.edu 37 X 76918897 76918897 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 76918897 76918897 T G SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.4094 p.E1365A 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 123 0 0 173 22 11.2821 ATRX 0 genome.wustl.edu 37 X 76939970 76939970 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 76939970 76939970 T G SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.778 p.N260H 1.000 superfamily_Znf_FYVE_PHD pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 260 0 0 361 47 11.5196 CHM 0 genome.wustl.edu 37 X 85155675 85155675 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 85155675 85155675 G A SNP CHM ENST00000357749 human ensembl 74_37 -1 known silent c.1389 p.V463 0.974 pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 13 0 0 19 7 26.9231 PCDH11X 0 genome.wustl.edu 37 X 91132001 91132001 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 91132001 91132001 T G SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.762 p.I254M 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 81 0 0 110 29 20.8633 TBL1X 0 genome.wustl.edu 37 X 9679769 9679769 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 9679769 9679769 T G SNP TBL1X ENST00000217964 human ensembl 74_37 +1 known missense c.1558 p.L520V 0.978 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep 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 TBL1X HGNC ENSG00000101849 53 0 0 53 10 15.873 CAMK1G 0 genome.wustl.edu 37 1 209785553 209785554 + Frame_Shift_Ins INS - - A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 1 209785553 209785554 - A INS CAMK1G ENST00000009105 human ensembl 74_37 +1 known frame_shift_ins c.1332_1333 p.Q446fs 1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK1G HGNC ENSG00000008118 64 0 0 40 13 24.5283 POLDIP2 0 genome.wustl.edu 37 17 26684394 26684395 + Splice_Site INS - - G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 17 26684394 26684395 - G INS POLDIP2 ENST00000540200 human ensembl 74_37 -1 known splice_site_ins c.78+1_78+1 e1+1 0.018:0.002 - - - no_errors POLDIP2 HGNC ENSG00000004142 9 0 0 4 2 33.3333 FCHO1 0 genome.wustl.edu 37 19 17877620 17877623 + Splice_Site DEL GTGT GTGT - TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 GTGT GTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 17877620 17877623 GTGT - DEL FCHO1 ENST00000252771 human ensembl 74_37 +1 known splice_site_del c.336+1_336+1 e4+1 1.000:0.994:0.450:0.001 - - - no_errors FCHO1 HGNC ENSG00000130475 29 0 0 22 9 29.0323 PTPRH 0 genome.wustl.edu 37 19 55693409 55693412 + Frame_Shift_Del DEL CTCT CTCT - TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 CTCT CTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 19 55693409 55693412 CTCT - DEL PTPRH ENST00000376350 human ensembl 74_37 -1 known frame_shift_del c.3173_3170 p.E1057fs 0.839:0.555:0.001:0.000 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_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 PTPRH HGNC ENSG00000080031 221 0 0 132 15 10.2041 ITGAV 0 genome.wustl.edu 37 2 187455200 187455201 + Frame_Shift_Del DEL GG GG - TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 187455200 187455201 GG - DEL ITGAV ENST00000261023 human ensembl 74_37 +1 known frame_shift_del c.135_136 p.G46fs 1.000:1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 49 0 0 37 6 13.9535 SOX11 0 genome.wustl.edu 37 2 5833526 5833531 + In_Frame_Del DEL GACGAC GACGAC - TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 GACGAC GACGAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 2 5833526 5833531 GACGAC - DEL SOX11 ENST00000322002 human ensembl 74_37 +1 known in_frame_del c.673_678 p.DD228in_frame_del 1.000:1.000:0.999:1.000:1.000:0.997 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 33 0 0 17 8 32 APC 0 genome.wustl.edu 37 5 112175951 112175952 + Frame_Shift_Ins INS - - A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 5 112175951 112175952 - A INS APC ENST00000257430 human ensembl 74_37 +1 known frame_shift_ins c.4660_4661 p.T1556fs 0.925:0.945 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 64 0 0 21 17 44.7368 PIK3R1 0 genome.wustl.edu 37 5 67575545 67575545 + Frame_Shift_Del DEL G G - TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 5 67575545 67575545 G - DEL PIK3R1 ENST00000396611 human ensembl 74_37 +1 known frame_shift_del c.618 p.M206fs 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 106 0 0 23 35 60.3448 MAP3K4 0 genome.wustl.edu 37 6 161469775 161469776 + Frame_Shift_Ins INS - - A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 6 161469775 161469776 - A INS MAP3K4 ENST00000392142 human ensembl 74_37 +1 known frame_shift_ins c.471_472 p.N159fs 1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K4 HGNC ENSG00000085511 65 0 0 87 24 21.6216 RP1 0 genome.wustl.edu 37 8 55540472 55540472 + Frame_Shift_Del DEL T T - TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 8 55540472 55540472 T - DEL RP1 ENST00000220676 human ensembl 74_37 +1 known frame_shift_del c.4030 p.L1345fs 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 53 0 0 83 7 7.77778 C9orf84 0 genome.wustl.edu 37 9 114454528 114454529 + Frame_Shift_Ins INS - - A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 9 114454528 114454529 - A INS C9orf84 ENST00000318737 human ensembl 74_37 -1 known frame_shift_ins c.3537_3536 p.L1179fs 0.007:0.002 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 100 0 0 92 39 29.771 SPATA31E1 0 genome.wustl.edu 37 9 90503371 90503371 + Frame_Shift_Del DEL G G - TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 9 90503371 90503371 G - DEL SPATA31E1 ENST00000325643 human ensembl 74_37 +1 known frame_shift_del c.3969 p.G1324fs 0.000 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 46 0 0 41 13 24.0741 CXorf56 0 genome.wustl.edu 37 X 118694316 118694316 + Frame_Shift_Del DEL G G - TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 118694316 118694316 G - DEL CXorf56 ENST00000371594 human ensembl 74_37 -1 known frame_shift_del c.157 p.R53fs 1.000 NULL NULL - no_errors CXorf56 HGNC ENSG00000018610 270 0 0 154 129 45.583 C1GALT1C1 0 genome.wustl.edu 37 X 119760554 119760555 + Frame_Shift_Ins INS - - C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 X 119760554 119760555 - C INS C1GALT1C1 ENST00000304661 human ensembl 74_37 -1 known frame_shift_ins c.468_467 p.Y156fs 0.997:1.000 NULL NULL - no_errors C1GALT1C1 HGNC ENSG00000171155 110 0 0 116 30 20.5479