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 KCNA2 0 genome.wustl.edu 37 1 111146041 111146041 + Missense_Mutation SNP T T G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 111146041 111146041 T G SNP KCNA2 ENST00000316361 human ensembl 74_37 -1 known missense c.1364 p.K455T 1.000 prints_2pore_dom_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.2,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3,prints_2pore_dom_K_chnl,prints_K_chnl_volt-dep_Kv1.1 - no_errors KCNA2 HGNC ENSG00000177301 136 0 0 44 18 29.0323 KCNA2 0 genome.wustl.edu 37 1 111147160 111147160 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 111147160 111147160 C T SNP KCNA2 ENST00000316361 human ensembl 74_37 -1 known missense c.245 p.R82H 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.2,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3,prints_2pore_dom_K_chnl,prints_K_chnl_volt-dep_Kv1.1 - no_errors KCNA2 HGNC ENSG00000177301 106 0 0 32 28 46.6667 SYCP1 0 genome.wustl.edu 37 1 115428890 115428890 + Missense_Mutation SNP G G C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 115428890 115428890 G C SNP SYCP1 ENST00000369518 human ensembl 74_37 +1 known missense c.1150 p.V384L 0.744 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 123 0 0 60 19 24.0506 PRAMEF11 0 genome.wustl.edu 37 1 12887591 12887591 + Missense_Mutation SNP T T A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 12887591 12887591 T A SNP PRAMEF11 ENST00000535591 human ensembl 74_37 -1 known missense c.266 p.K89M 0.000 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 495 0 0 321 57 15.0794 TXNIP 0 genome.wustl.edu 37 1 145441272 145441272 + RNA SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 145441272 145441272 C A SNP TXNIP ENST00000475171 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors TXNIP HGNC ENSG00000117289 29 0 0 15 6 28.5714 FLG 0 genome.wustl.edu 37 1 152277559 152277559 + Missense_Mutation SNP G G T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 152277559 152277559 G T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.9803 p.A3268E 0.022 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 497 0 0 442 222 33.4337 FLG 0 genome.wustl.edu 37 1 152279828 152279828 + Missense_Mutation SNP T T C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 152279828 152279828 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.7534 p.S2512G 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 558 0 0 595 59 9.02141 FLG 0 genome.wustl.edu 37 1 152282729 152282729 + Silent SNP T T G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 152282729 152282729 T G SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.4633 p.R1545 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 414 0 0 554 82 12.8931 GBA 0 genome.wustl.edu 37 1 155207192 155207192 + Silent SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 155207192 155207192 G A SNP GBA ENST00000327247 human ensembl 74_37 -1 known silent c.939 p.H313 0.000 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 - no_errors GBA HGNC ENSG00000177628 92 0 0 88 9 9.27835 GPATCH4 0 genome.wustl.edu 37 1 156568060 156568060 + Missense_Mutation SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 156568060 156568060 A C SNP GPATCH4 ENST00000438976 human ensembl 74_37 -1 known missense c.220 p.F74V 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH4 HGNC ENSG00000160818 323 0 0 273 44 13.8801 OR6Y1 0 genome.wustl.edu 37 1 158517000 158517000 + Missense_Mutation SNP T T G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 158517000 158517000 T G SNP OR6Y1 ENST00000302617 human ensembl 74_37 -1 known missense c.896 p.N299T 0.870 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Y1 HGNC ENSG00000197532 91 0 0 65 37 36.2745 MROH9 0 genome.wustl.edu 37 1 170934299 170934299 + Missense_Mutation SNP T T C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 170934299 170934299 T C SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known missense c.383 p.L128P 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 78 0 0 120 15 11.1111 SUCO 0 genome.wustl.edu 37 1 172501623 172501623 + Missense_Mutation SNP T T A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 172501623 172501623 T A SNP SUCO ENST00000608151 human ensembl 74_37 +1 known missense c.11 p.F4Y 0.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 40 0 0 42 6 12.5 CACNA1E 0 genome.wustl.edu 37 1 181764055 181764055 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 181764055 181764055 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.6083 p.R2028H 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 75 0 0 77 14 15.3846 RNASEL 0 genome.wustl.edu 37 1 182555272 182555272 + Silent SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 182555272 182555272 G A SNP RNASEL ENST00000367559 human ensembl 74_37 -1 known silent c.670 p.L224 0.001 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors RNASEL HGNC ENSG00000135828 96 0 0 89 17 16.0377 PAX7 0 genome.wustl.edu 37 1 18961684 18961684 + Missense_Mutation SNP G G T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 18961684 18961684 G T SNP PAX7 ENST00000375375 human ensembl 74_37 +1 known missense c.401 p.R134L 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX7 HGNC ENSG00000009709 119 0 0 55 5 8.33333 SYT2 0 genome.wustl.edu 37 1 202571672 202571672 + Missense_Mutation SNP A A T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 202571672 202571672 A T SNP SYT2 ENST00000367267 human ensembl 74_37 -1 known missense c.467 p.L156H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT2 HGNC ENSG00000143858 90 0 0 91 16 14.9533 PLEKHA6 0 genome.wustl.edu 37 1 204197347 204197347 + Silent SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 204197347 204197347 G A SNP PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known silent c.2895 p.N965 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 86 0 0 102 12 10.5263 IL10 0 genome.wustl.edu 37 1 206943236 206943236 + Missense_Mutation SNP G G C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 206943236 206943236 G C SNP IL10 ENST00000423557 human ensembl 74_37 -1 known missense c.382 p.R128G 1.000 pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,smart_IL-10/19/20/24/26_fam,prints_IL-10 pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,smart_IL-10/19/20/24/26_fam,prints_IL-10 - no_errors IL10 HGNC ENSG00000136634 55 0 0 48 8 14.2857 CENPF 0 genome.wustl.edu 37 1 214815817 214815817 + Missense_Mutation SNP T T G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 214815817 214815817 T G SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.4136 p.V1379G 0.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 65 0 0 55 8 12.6984 ESRRG 0 genome.wustl.edu 37 1 216692702 216692702 + Missense_Mutation SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 216692702 216692702 A C SNP ESRRG ENST00000408911 human ensembl 74_37 -1 known missense c.924 p.I308M 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC ENSG00000196482 49 0 0 62 8 11.4286 ESRRG 0 genome.wustl.edu 37 1 216692733 216692733 + Missense_Mutation SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 216692733 216692733 A C SNP ESRRG ENST00000408911 human ensembl 74_37 -1 known missense c.893 p.M298R 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC ENSG00000196482 48 0 0 55 7 11.2903 LUZP1 0 genome.wustl.edu 37 1 23417805 23417805 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 23417805 23417805 C T SNP LUZP1 ENST00000302291 human ensembl 74_37 -1 known missense c.2950 p.D984N 0.629 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 40 0 0 53 10 15.873 NID1 0 genome.wustl.edu 37 1 236212088 236212088 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 236212088 236212088 G A SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.427 p.P143S 1.000 smart_Nidogen_extracell_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 53 0 0 53 5 8.62069 RYR2 0 genome.wustl.edu 37 1 237756796 237756796 + Silent SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 237756796 237756796 C A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.4290 p.I1430 1.000 pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY 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 82 0 0 65 11 14.4737 RYR2 0 genome.wustl.edu 37 1 237758906 237758906 + Missense_Mutation SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 237758906 237758906 C A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.4539 p.S1513R 0.086 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY 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 40 0 0 56 8 12.5 MYOM3 0 genome.wustl.edu 37 1 24416562 24416562 + Silent SNP A A T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 24416562 24416562 A T SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known silent c.1482 p.A494 0.041 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 50 0 0 33 4 10.8108 ZNF669 0 genome.wustl.edu 37 1 247263752 247263752 + Missense_Mutation SNP T T C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 247263752 247263752 T C SNP ZNF669 ENST00000343381 human ensembl 74_37 -1 known missense c.1319 p.H440R 0.944 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 ZNF669 HGNC ENSG00000188295 138 0 0 121 23 15.9722 OR2L2 0 genome.wustl.edu 37 1 248202430 248202430 + Silent SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 248202430 248202430 C T SNP OR2L2 ENST00000366479 human ensembl 74_37 +1 known silent c.861 p.I287 0.881 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 OR2L2 HGNC ENSG00000203663 121 1 0.819672 90 40 30.7692 SLC30A2 0 genome.wustl.edu 37 1 26370885 26370885 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 26370885 26370885 G A SNP SLC30A2 ENST00000374276 human ensembl 74_37 -1 known missense c.322 p.L108F 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A2 HGNC ENSG00000158014 38 0 0 21 3 12.5 BEND5 0 genome.wustl.edu 37 1 49201993 49201993 + Silent SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 49201993 49201993 G A SNP BEND5 ENST00000371833 human ensembl 74_37 -1 known silent c.1026 p.S342 0.994 pfam_BEN_domain pfam_BEN_domain - no_errors BEND5 HGNC ENSG00000162373 158 0 0 67 13 16.25 WDR78 0 genome.wustl.edu 37 1 67301455 67301455 + Silent SNP T T C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 67301455 67301455 T C SNP WDR78 ENST00000371026 human ensembl 74_37 -1 known silent c.1587 p.P529 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 97 0 0 50 15 23.0769 SLC2A5 0 genome.wustl.edu 37 1 9097965 9097965 + Silent SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 9097965 9097965 C T SNP SLC2A5 ENST00000377424 human ensembl 74_37 -1 known silent c.1293 p.P431 0.006 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Fru_transpt_5,tigrfam_Sugar/inositol_transpt - no_errors SLC2A5 HGNC ENSG00000142583 49 0 0 22 12 35.2941 CLSTN1 0 genome.wustl.edu 37 1 9790620 9790620 + Silent SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 9790620 9790620 C T SNP CLSTN1 ENST00000377298 human ensembl 74_37 -1 known silent c.2892 p.Q964 0.852 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 106 0 0 68 19 21.8391 DPYD 0 genome.wustl.edu 37 1 97915763 97915763 + Missense_Mutation SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 97915763 97915763 A C SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.1757 p.V586G 1.000 pfam_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 68 0 0 39 5 11.3636 SMC3 0 genome.wustl.edu 37 10 112360880 112360880 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 10 112360880 112360880 G A SNP SMC3 ENST00000361804 human ensembl 74_37 +1 known missense c.2636 p.R879Q 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 199 0 0 150 23 13.2948 TACC2 0 genome.wustl.edu 37 10 124008317 124008317 + Missense_Mutation SNP A A G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 10 124008317 124008317 A G SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.8552 p.K2851R 1.000 pfam_TACC pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 99 0 0 83 11 11.7021 MLLT10 0 genome.wustl.edu 37 10 21962549 21962549 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 10 21962549 21962549 G A SNP MLLT10 ENST00000307729 human ensembl 74_37 +1 known missense c.1322 p.G441D 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 324 0 0 214 66 23.5714 ITGB1 0 genome.wustl.edu 37 10 33197334 33197334 + Missense_Mutation SNP T T C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 10 33197334 33197334 T C SNP ITGB1 ENST00000374956 human ensembl 74_37 -1 known missense c.2293 p.K765E 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_cyt_dom pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB1 HGNC ENSG00000150093 125 0 0 86 37 30.0813 ANKRD30A 0 genome.wustl.edu 37 10 37508073 37508073 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 10 37508073 37508073 G A SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.3265 p.E1089K 0.117 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 146 0 0 156 23 12.8492 PCDH15 0 genome.wustl.edu 37 10 55566448 55566448 + Missense_Mutation SNP T T G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 10 55566448 55566448 T G SNP PCDH15 ENST00000414778 human ensembl 74_37 -1 known missense c.4937 p.K1646T 0.750 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 218 0 0 132 19 12.5828 EGR2 0 genome.wustl.edu 37 10 64573486 64573486 + Silent SNP G G T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 10 64573486 64573486 G T SNP EGR2 ENST00000242480 human ensembl 74_37 -1 known silent c.912 p.A304 0.000 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR2 HGNC ENSG00000122877 47 0 0 22 5 18.5185 PRKCQ 0 genome.wustl.edu 37 10 6470192 6470192 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 10 6470192 6470192 C T SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.2098 p.G700R 0.012 pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 199 0 0 115 51 30.7229 CTNNA3 0 genome.wustl.edu 37 10 68526056 68526056 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 10 68526056 68526056 G A SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known missense c.1247 p.A416V 0.994 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 135 0 0 85 28 24.7788 CTNNA3 0 genome.wustl.edu 37 10 68535278 68535278 + Missense_Mutation SNP C C G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 10 68535278 68535278 C G SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known missense c.1052 p.G351A 1.000 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 179 0 0 114 28 19.7183 PGR 0 genome.wustl.edu 37 11 100920672 100920672 + Missense_Mutation SNP G G C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 11 100920672 100920672 G C SNP PGR ENST00000325455 human ensembl 74_37 -1 known missense c.2476 p.L826V 0.998 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 46 0 0 62 9 12.6761 DYNC2H1 0 genome.wustl.edu 37 11 103306730 103306730 + Silent SNP A A G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 11 103306730 103306730 A G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known silent c.12447 p.R4149 0.999 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 51 0 0 60 4 6.25 ARHGAP20 0 genome.wustl.edu 37 11 110451527 110451527 + Missense_Mutation SNP G G T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 11 110451527 110451527 G T SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known missense c.2143 p.L715I 0.315 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 90 0 0 126 7 5.26316 PHLDB1 0 genome.wustl.edu 37 11 118498963 118498963 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 11 118498963 118498963 G A SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known missense c.1424 p.R475Q 0.952 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 135 0 0 174 14 7.44681 ADAMTS8 0 genome.wustl.edu 37 11 130288995 130288995 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 11 130288995 130288995 C T SNP ADAMTS8 ENST00000257359 human ensembl 74_37 -1 known missense c.913 p.D305N 0.999 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS8 HGNC ENSG00000134917 219 0 0 101 34 25.1852 JAM3 0 genome.wustl.edu 37 11 134014823 134014823 + Silent SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 11 134014823 134014823 G A SNP JAM3 ENST00000529443 human ensembl 74_37 +1 known silent c.681 p.T227 0.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-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_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors JAM3 HGNC ENSG00000166086 78 0 0 34 7 17.0732 ALX4 0 genome.wustl.edu 37 11 44297059 44297059 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 11 44297059 44297059 C T SNP ALX4 ENST00000329255 human ensembl 74_37 -1 known missense c.616 p.D206N 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX4 HGNC ENSG00000052850 227 1 0.438596 125 32 20.3822 LRP4 0 genome.wustl.edu 37 11 46884284 46884284 + Missense_Mutation SNP T T C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 11 46884284 46884284 T C SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known missense c.5258 p.K1753R 1.000 NULL pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_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_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 70 0 0 40 8 16.6667 OR51I1 0 genome.wustl.edu 37 11 5462125 5462125 + Missense_Mutation SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 11 5462125 5462125 A C SNP OR51I1 ENST00000380211 human ensembl 74_37 -1 known missense c.620 p.F207C 0.396 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I1 HGNC ENSG00000167359 29 0 0 27 3 10 OR8J3 0 genome.wustl.edu 37 11 55904650 55904650 + Missense_Mutation SNP G G T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 11 55904650 55904650 G T SNP OR8J3 ENST00000301529 human ensembl 74_37 -1 known missense c.545 p.A182E 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J3 HGNC ENSG00000167822 94 0 0 58 18 23.6842 OR5T2 0 genome.wustl.edu 37 11 56000013 56000013 + Missense_Mutation SNP A A G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 11 56000013 56000013 A G SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known missense c.649 p.F217L 0.960 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 OR5T2 HGNC ENSG00000181718 144 0 0 72 41 36.2832 OR5M3 0 genome.wustl.edu 37 11 56237885 56237885 + Missense_Mutation SNP A A G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 11 56237885 56237885 A G SNP OR5M3 ENST00000312240 human ensembl 74_37 -1 known missense c.89 p.L30P 0.858 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 62 0 0 32 14 30.4348 ZFP91 0 genome.wustl.edu 37 11 58379103 58379103 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 11 58379103 58379103 C T SNP ZFP91 ENST00000316059 human ensembl 74_37 +1 known missense c.749 p.S250L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP91 HGNC ENSG00000186660 60 0 0 27 18 40 PPP1R32 0 genome.wustl.edu 37 11 61257335 61257335 + Silent SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 11 61257335 61257335 C T SNP PPP1R32 ENST00000338608 human ensembl 74_37 +1 known silent c.1125 p.Y375 0.001 NULL NULL - no_errors PPP1R32 HGNC ENSG00000162148 41 0 0 52 6 10.3448 FKBP2 0 genome.wustl.edu 37 11 64009967 64009967 + Missense_Mutation SNP G G C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 11 64009967 64009967 G C SNP FKBP2 ENST00000309366 human ensembl 74_37 +1 known missense c.108 p.K36N 1.000 NULL pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP2 HGNC ENSG00000173486 91 0 0 75 11 12.7907 SPDYC 0 genome.wustl.edu 37 11 64940349 64940349 + Silent SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 11 64940349 64940349 C T SNP SPDYC ENST00000377185 human ensembl 74_37 +1 known silent c.711 p.C237 0.017 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYC HGNC ENSG00000204710 97 0 0 84 20 19.2308 RBM4B 0 genome.wustl.edu 37 11 66444414 66444414 + Missense_Mutation SNP G G T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 11 66444414 66444414 G T SNP RBM4B ENST00000310046 human ensembl 74_37 -1 known missense c.137 p.T46K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4B HGNC ENSG00000173914 222 0 0 97 38 28.1481 PNPLA2 0 genome.wustl.edu 37 11 821985 821985 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 11 821985 821985 G A SNP PNPLA2 ENST00000336615 human ensembl 74_37 +1 known missense c.448 p.V150M 0.998 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA2 HGNC ENSG00000177666 120 0 0 59 13 18.0556 TRIM49C 0 genome.wustl.edu 37 11 89774338 89774338 + Missense_Mutation SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 11 89774338 89774338 A C SNP TRIM49C ENST00000448984 human ensembl 74_37 +1 known missense c.979 p.S327R 0.001 superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49C HGNC ENSG00000204449 56 0 0 57 4 6.55738 GAS2L3 0 genome.wustl.edu 37 12 100995421 100995421 + Nonsense_Mutation SNP A A T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 12 100995421 100995421 A T SNP GAS2L3 ENST00000266754 human ensembl 74_37 +1 known nonsense c.193 p.K65* 0.998 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 125 0 0 121 22 15.3846 GNPTAB 0 genome.wustl.edu 37 12 102155373 102155373 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 12 102155373 102155373 C T SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known missense c.2884 p.D962N 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 121 0 0 62 24 27.907 RBM19 0 genome.wustl.edu 37 12 114390388 114390388 + Missense_Mutation SNP A A T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 12 114390388 114390388 A T SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known missense c.929 p.V310D 0.752 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 80 0 0 41 23 35.9375 RSRC2 0 genome.wustl.edu 37 12 123006713 123006713 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 12 123006713 123006713 G A SNP RSRC2 ENST00000331738 human ensembl 74_37 -1 known missense c.140 p.S47L 1.000 NULL NULL - no_errors RSRC2 HGNC ENSG00000111011 81 0 0 68 5 6.84932 RECQL 0 genome.wustl.edu 37 12 21626568 21626568 + Missense_Mutation SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 12 21626568 21626568 C A SNP RECQL ENST00000421138 human ensembl 74_37 -1 known missense c.1364 p.R455L 1.000 tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 34 0 0 12 21 63.6364 DENND5B 0 genome.wustl.edu 37 12 31586168 31586168 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 12 31586168 31586168 C T SNP DENND5B ENST00000306833 human ensembl 74_37 -1 known missense c.2132 p.R711Q 1.000 NULL pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 184 0 0 135 9 6.25 YARS2 0 genome.wustl.edu 37 12 32908614 32908614 + Silent SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 12 32908614 32908614 G A SNP YARS2 ENST00000324868 human ensembl 74_37 -1 known silent c.195 p.F65 0.905 NULL pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase - no_errors YARS2 HGNC ENSG00000139131 188 0 0 140 23 14.1104 LRRK2 0 genome.wustl.edu 37 12 40728856 40728856 + Missense_Mutation SNP T T G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 12 40728856 40728856 T G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.5845 p.L1949V 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 79 0 0 33 40 54.7945 KMT2D 0 genome.wustl.edu 37 12 49443503 49443503 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 12 49443503 49443503 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.3868 p.R1290W 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 84 0 0 71 22 23.6559 KRT71 0 genome.wustl.edu 37 12 52943836 52943836 + Silent SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 12 52943836 52943836 G A SNP KRT71 ENST00000267119 human ensembl 74_37 -1 known silent c.633 p.D211 0.003 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT71 HGNC ENSG00000139648 188 0 0 138 53 27.7487 TENC1 0 genome.wustl.edu 37 12 53454673 53454673 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 12 53454673 53454673 C T SNP TENC1 ENST00000314276 human ensembl 74_37 +1 known missense c.3013 p.H1005Y 0.002 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 10 0 0 9 6 40 LRP1 0 genome.wustl.edu 37 12 57605723 57605723 + Silent SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 12 57605723 57605723 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.13272 p.I4424 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 137 0 0 90 15 14.2857 CCER1 0 genome.wustl.edu 37 12 91348076 91348076 + Silent SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 12 91348076 91348076 G A SNP CCER1 ENST00000358859 human ensembl 74_37 -1 known silent c.444 p.R148 0.611 NULL NULL - no_errors CCER1 HGNC ENSG00000197651 32 0 0 33 5 13.1579 LUM 0 genome.wustl.edu 37 12 91502123 91502123 + Missense_Mutation SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 12 91502123 91502123 A C SNP LUM ENST00000266718 human ensembl 74_37 -1 known missense c.634 p.L212V 0.998 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LUM HGNC ENSG00000139329 111 0 0 59 45 43.2692 MYO16 0 genome.wustl.edu 37 13 109793645 109793645 + Silent SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 13 109793645 109793645 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.5019 p.D1673 0.984 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 28 0 0 21 6 22.2222 ATP4B 0 genome.wustl.edu 37 13 114304735 114304735 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 13 114304735 114304735 C T SNP ATP4B ENST00000335288 human ensembl 74_37 -1 known missense c.700 p.G234R 1.000 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP4B HGNC ENSG00000186009 61 0 0 43 32 42.6667 PCDH17 0 genome.wustl.edu 37 13 58299162 58299162 + Silent SNP T T C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 13 58299162 58299162 T C SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.3214 p.L1072 0.998 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 88 0 0 66 12 15.3846 OR4K2 0 genome.wustl.edu 37 14 20344477 20344477 + Silent SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 14 20344477 20344477 C T SNP OR4K2 ENST00000298642 human ensembl 74_37 +1 known silent c.51 p.L17 0.986 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K2 HGNC ENSG00000165762 257 0 0 172 39 18.4834 OR4N5 0 genome.wustl.edu 37 14 20612797 20612797 + Missense_Mutation SNP G G T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 14 20612797 20612797 G T SNP OR4N5 ENST00000333629 human ensembl 74_37 +1 known missense c.903 p.L301F 0.002 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4N5 HGNC ENSG00000184394 71 0 0 42 10 19.2308 SLC7A8 0 genome.wustl.edu 37 14 23635621 23635621 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 14 23635621 23635621 C T SNP SLC7A8 ENST00000316902 human ensembl 74_37 -1 known missense c.280 p.A94T 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A8 HGNC ENSG00000092068 256 0 0 154 41 21.0256 C14orf39 0 genome.wustl.edu 37 14 60903742 60903742 + Nonsense_Mutation SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 14 60903742 60903742 C A SNP C14orf39 ENST00000321731 human ensembl 74_37 -1 known nonsense c.1585 p.G529* 1.000 NULL NULL - no_errors C14orf39 HGNC ENSG00000179008 163 1 0.609756 91 49 35 DNM1P46 0 genome.wustl.edu 37 15 100333076 100333076 + RNA SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 15 100333076 100333076 G A SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors DNM1P46 HGNC ENSG00000182397 65 0 0 9 14 60.8696 OR4N4 0 genome.wustl.edu 37 15 22382668 22382668 + Silent SNP T T C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 15 22382668 22382668 T C SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known silent c.196 p.L66 0.963 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 OR4N4 HGNC ENSG00000183706 441 0 0 309 17 5.21472 VPS39 0 genome.wustl.edu 37 15 42479994 42479994 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 15 42479994 42479994 G A SNP VPS39 ENST00000348544 human ensembl 74_37 -1 known missense c.436 p.L146F 1.000 pfam_Citron,superfamily_WD40_repeat_dom,smart_Citron pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC ENSG00000166887 260 1 0.383142 131 64 32.8205 TGM5 0 genome.wustl.edu 37 15 43552280 43552280 + Missense_Mutation SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 15 43552280 43552280 A C SNP TGM5 ENST00000220420 human ensembl 74_37 -1 known missense c.406 p.F136V 1.000 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 TGM5 HGNC ENSG00000104055 101 0 0 38 23 37.7049 RORA 0 genome.wustl.edu 37 15 60806883 60806883 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 15 60806883 60806883 C T SNP RORA ENST00000261523 human ensembl 74_37 -1 known missense c.455 p.R152Q 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORA HGNC ENSG00000069667 142 0 0 80 45 36 DNAH3 0 genome.wustl.edu 37 16 21080793 21080793 + Missense_Mutation SNP T T A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 16 21080793 21080793 T A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.3324 p.E1108D 1.000 pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 113 0 0 97 11 10.1852 COG7 0 genome.wustl.edu 37 16 23421679 23421679 + Missense_Mutation SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 16 23421679 23421679 A C SNP COG7 ENST00000307149 human ensembl 74_37 -1 known missense c.1412 p.I471R 1.000 pfam_COG7 pfam_COG7 - no_errors COG7 HGNC ENSG00000168434 31 0 0 22 8 26.6667 ASPHD1 0 genome.wustl.edu 37 16 29913170 29913170 + Missense_Mutation SNP C C G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 16 29913170 29913170 C G SNP ASPHD1 ENST00000308748 human ensembl 74_37 +1 known missense c.878 p.S293C 0.964 pfam_Asp_Arg_b-Hydrxlase pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD1 HGNC ENSG00000174939 53 0 0 46 3 6.12245 TRIM72 0 genome.wustl.edu 37 16 31232220 31232220 + Missense_Mutation SNP T T C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 16 31232220 31232220 T C SNP TRIM72 ENST00000322122 human ensembl 74_37 +1 known missense c.721 p.Y241H 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM72 HGNC ENSG00000177238 128 0 0 117 28 19.3103 TMEM8A 0 genome.wustl.edu 37 16 427758 427758 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 16 427758 427758 C T SNP TMEM8A ENST00000431232 human ensembl 74_37 -1 known missense c.212 p.R71H 0.039 NULL pfam_DUF3522,pfscan_EG-like_dom - no_errors TMEM8A HGNC ENSG00000129925 12 0 0 11 3 21.4286 CNGB1 0 genome.wustl.edu 37 16 57953078 57953078 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 16 57953078 57953078 C T SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known missense c.1882 p.D628N 0.960 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 88 0 0 40 30 42.8571 MTSS1L 0 genome.wustl.edu 37 16 70698201 70698201 + Silent SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 16 70698201 70698201 C A SNP MTSS1L ENST00000338779 human ensembl 74_37 -1 known silent c.1623 p.G541 0.988 NULL pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC ENSG00000132613 30 0 0 18 7 28 CMTR2 0 genome.wustl.edu 37 16 71318662 71318662 + Missense_Mutation SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 16 71318662 71318662 C A SNP CMTR2 ENST00000338099 human ensembl 74_37 -1 known missense c.1162 p.A388S 0.363 NULL pfam_rRNA_MeTrfase_FtsJ_dom - no_errors CMTR2 HGNC ENSG00000180917 36 0 0 14 5 26.3158 PRPF8 0 genome.wustl.edu 37 17 1562830 1562830 + Silent SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 17 1562830 1562830 G A SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known silent c.4959 p.D1653 1.000 NULL pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 118 0 0 24 28 53.8462 KIAA0100 0 genome.wustl.edu 37 17 26961094 26961094 + Silent SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 17 26961094 26961094 C T SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known silent c.3081 p.R1027 0.997 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 50 0 0 18 14 43.75 CWC25 0 genome.wustl.edu 37 17 36977249 36977249 + Silent SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 17 36977249 36977249 A C SNP CWC25 ENST00000225428 human ensembl 74_37 -1 known silent c.96 p.A32 0.114 pfam_CIR_N_dom pfam_CWC25,pfam_CIR_N_dom - no_errors CWC25 HGNC ENSG00000108296 162 0 0 356 19 5.06667 EPN3 0 genome.wustl.edu 37 17 48618642 48618642 + Silent SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 17 48618642 48618642 C A SNP EPN3 ENST00000537145 human ensembl 74_37 +1 known silent c.1386 p.T462 0.718 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN3 HGNC ENSG00000049283 273 0 0 144 50 25.7732 FOXK2 0 genome.wustl.edu 37 17 80542025 80542025 + Missense_Mutation SNP G G T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 17 80542025 80542025 G T SNP FOXK2 ENST00000335255 human ensembl 74_37 +1 known missense c.1240 p.A414S 0.995 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK2 HGNC ENSG00000141568 21 0 0 11 2 15.3846 ASXL3 0 genome.wustl.edu 37 18 31323104 31323104 + Missense_Mutation SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 18 31323104 31323104 A C SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.3292 p.T1098P 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 75 0 0 34 5 12.8205 RNF165 0 genome.wustl.edu 37 18 44013342 44013342 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 18 44013342 44013342 C T SNP RNF165 ENST00000269439 human ensembl 74_37 +1 known missense c.251 p.P84L 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF165 HGNC ENSG00000141622 28 0 0 18 5 21.7391 EPB41L3 0 genome.wustl.edu 37 18 5489118 5489118 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 18 5489118 5489118 G A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.65 p.A22V 0.251 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 31 0 0 21 12 36.3636 LAMA1 0 genome.wustl.edu 37 18 7017344 7017344 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 18 7017344 7017344 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.2741 p.C914Y 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 43 0 0 40 6 13.0435 CBLN2 0 genome.wustl.edu 37 18 70209211 70209211 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 18 70209211 70209211 C T SNP CBLN2 ENST00000269503 human ensembl 74_37 -1 known missense c.185 p.G62D 1.000 NULL pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN2 HGNC ENSG00000141668 24 0 0 14 4 22.2222 ZNF98 0 genome.wustl.edu 37 19 22585671 22585671 + Missense_Mutation SNP T T C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 19 22585671 22585671 T C SNP ZNF98 ENST00000357774 human ensembl 74_37 -1 known missense c.173 p.K58R 0.839 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF98 HGNC ENSG00000197360 162 1 0.613497 104 54 34.1772 ZNF536 0 genome.wustl.edu 37 19 30935982 30935982 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 19 30935982 30935982 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.1513 p.R505W 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 76 0 0 119 149 55.597 FFAR3 0 genome.wustl.edu 37 19 35850657 35850657 + Nonsense_Mutation SNP G G T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 19 35850657 35850657 G T SNP FFAR3 ENST00000327809 human ensembl 74_37 +1 known nonsense c.865 p.E289* 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph - no_errors FFAR3 HGNC ENSG00000185897 104 0 0 216 12 5.26316 FFAR2 0 genome.wustl.edu 37 19 35941123 35941123 + Silent SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 19 35941123 35941123 C T SNP FFAR2 ENST00000246549 human ensembl 74_37 +1 known silent c.507 p.T169 0.006 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph - no_errors FFAR2 HGNC ENSG00000126262 124 0 0 177 28 13.6585 ZNF568 0 genome.wustl.edu 37 19 37441191 37441191 + Missense_Mutation SNP T T C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 19 37441191 37441191 T C SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known missense c.1136 p.L379P 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 82 0 0 153 38 19.8953 SNRPA 0 genome.wustl.edu 37 19 41263268 41263268 + Silent SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 19 41263268 41263268 C T SNP SNRPA ENST00000243563 human ensembl 74_37 +1 known silent c.105 p.S35 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRPA HGNC ENSG00000077312 69 0 0 21 65 75.5814 RTN2 0 genome.wustl.edu 37 19 45992707 45992707 + Missense_Mutation SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 19 45992707 45992707 C A SNP RTN2 ENST00000245923 human ensembl 74_37 -1 known missense c.1138 p.A380S 0.213 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 20 0 0 30 3 9.09091 FTL 0 genome.wustl.edu 37 19 49469092 49469092 + Silent SNP C C G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 19 49469092 49469092 C G SNP FTL ENST00000331825 human ensembl 74_37 +1 known silent c.168 p.A56 0.000 pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTL HGNC ENSG00000087086 91 0 0 36 78 68.4211 ZNF614 0 genome.wustl.edu 37 19 52519689 52519689 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 19 52519689 52519689 C T SNP ZNF614 ENST00000270649 human ensembl 74_37 -1 known missense c.1162 p.V388I 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF614 HGNC ENSG00000142556 196 0 0 65 134 67.3367 ZNF320 0 genome.wustl.edu 37 19 53384221 53384221 + Silent SNP T T A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 19 53384221 53384221 T A SNP ZNF320 ENST00000391781 human ensembl 74_37 -1 known silent c.1158 p.T386 0.091 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 ZNF320 HGNC ENSG00000182986 151 0 0 99 20 16.8067 ZNF665 0 genome.wustl.edu 37 19 53668541 53668541 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 19 53668541 53668541 G A SNP ZNF665 ENST00000396424 human ensembl 74_37 -1 known missense c.1202 p.P401L 0.404 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 ZNF665 HGNC ENSG00000197497 95 0 0 59 10 14.4928 CACNG8 0 genome.wustl.edu 37 19 54483128 54483128 + Silent SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 19 54483128 54483128 C T SNP CACNG8 ENST00000270458 human ensembl 74_37 +1 known silent c.375 p.V125 0.997 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g8su,prints_Claudin - no_errors CACNG8 HGNC ENSG00000142408 29 0 0 32 5 13.5135 PEG3 0 genome.wustl.edu 37 19 57325987 57325987 + Missense_Mutation SNP T T C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 19 57325987 57325987 T C SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.3823 p.S1275G 0.272 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 62 0 0 53 10 15.873 ZNF549 0 genome.wustl.edu 37 19 58048765 58048765 + Silent SNP T T G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 19 58048765 58048765 T G SNP ZNF549 ENST00000376233 human ensembl 74_37 +1 known silent c.393 p.P131 0.002 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF549 HGNC ENSG00000121406 110 0 0 36 78 68.4211 ZNF549 0 genome.wustl.edu 37 19 58048993 58048993 + Missense_Mutation SNP A A T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 19 58048993 58048993 A T SNP ZNF549 ENST00000376233 human ensembl 74_37 +1 known missense c.621 p.Q207H 0.167 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 ZNF549 HGNC ENSG00000121406 59 0 0 51 7 12.069 TGFBRAP1 0 genome.wustl.edu 37 2 105889361 105889361 + Silent SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 2 105889361 105889361 C T SNP TGFBRAP1 ENST00000258449 human ensembl 74_37 -1 known silent c.1923 p.L641 0.002 pfam_Clathrin_H-chain/VPS_repeat pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron - no_errors TGFBRAP1 HGNC ENSG00000135966 67 0 0 75 6 7.40741 TTL 0 genome.wustl.edu 37 2 113286266 113286266 + Missense_Mutation SNP A A G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 2 113286266 113286266 A G SNP TTL ENST00000233336 human ensembl 74_37 +1 known missense c.1028 p.Y343C 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTL HGNC ENSG00000114999 86 0 0 40 22 35.4839 MARCO 0 genome.wustl.edu 37 2 119739960 119739960 + Missense_Mutation SNP G G T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 2 119739960 119739960 G T SNP MARCO ENST00000327097 human ensembl 74_37 +1 known missense c.1037 p.G346V 0.230 NULL pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 226 0 0 148 29 16.3842 ORC4 0 genome.wustl.edu 37 2 148705692 148705692 + Missense_Mutation SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 2 148705692 148705692 A C SNP ORC4 ENST00000264169 human ensembl 74_37 -1 known missense c.690 p.F230L 1.000 superfamily_P-loop_NTPase,pirsf_ORC4 pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_ORC4 - no_errors ORC4 HGNC ENSG00000115947 82 0 0 66 16 19.5122 EPC2 0 genome.wustl.edu 37 2 149526718 149526718 + Splice_Site SNP A A G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 2 149526718 149526718 A G SNP EPC2 ENST00000258484 human ensembl 74_37 +1 known splice_site c.1141-2 e8-2 1.000 - - - no_errors EPC2 HGNC ENSG00000135999 28 0 0 21 3 12.5 SCN3A 0 genome.wustl.edu 37 2 165950892 165950892 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 2 165950892 165950892 G A SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.4528 p.R1510C 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 353 0 0 130 174 57.2368 XIRP2 0 genome.wustl.edu 37 2 167760240 167760240 + Missense_Mutation SNP A A T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 2 167760240 167760240 A T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.248 p.K83M 0.003 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 51 0 0 32 16 33.3333 TTN 0 genome.wustl.edu 37 2 179400404 179400404 + Silent SNP G G C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 2 179400404 179400404 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.93234 p.V31078 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,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 195 0 0 84 61 42.069 PGAP1 0 genome.wustl.edu 37 2 197757109 197757109 + Silent SNP A A G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 2 197757109 197757109 A G SNP PGAP1 ENST00000354764 human ensembl 74_37 -1 known silent c.1050 p.V350 1.000 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 54 0 0 28 21 42.8571 MAP2 0 genome.wustl.edu 37 2 210559045 210559045 + Missense_Mutation SNP C C G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 2 210559045 210559045 C G SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.2151 p.N717K 1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 175 0 0 128 29 18.4713 VIL1 0 genome.wustl.edu 37 2 219297563 219297563 + Silent SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 2 219297563 219297563 C T SNP VIL1 ENST00000248444 human ensembl 74_37 +1 known silent c.1389 p.A463 0.017 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VIL1 HGNC ENSG00000127831 48 0 0 11 16 59.2593 FSHR 0 genome.wustl.edu 37 2 49217713 49217713 + Missense_Mutation SNP T T A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 2 49217713 49217713 T A SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.438 p.K146N 1.000 prints_FSH_rcpt,prints_TSH_rcpt pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 91 0 0 52 25 32.4675 RTN4 0 genome.wustl.edu 37 2 55209688 55209688 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 2 55209688 55209688 C T SNP RTN4 ENST00000337526 human ensembl 74_37 -1 known missense c.3323 p.R1108H 1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 50 0 0 31 11 26.1905 DYSF 0 genome.wustl.edu 37 2 71795359 71795359 + Missense_Mutation SNP T T A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 2 71795359 71795359 T A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.2794 p.Y932N 1.000 smart_Peroxin/Ferlin pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 350 0 0 235 105 30.8824 C20orf26 0 genome.wustl.edu 37 20 20054980 20054980 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 20 20054980 20054980 C T SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known missense c.329 p.A110V 0.995 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 149 0 0 100 43 30.0699 CBLN4 0 genome.wustl.edu 37 20 54573661 54573661 + Silent SNP T T C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 20 54573661 54573661 T C SNP CBLN4 ENST00000064571 human ensembl 74_37 -1 known silent c.558 p.G186 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN4 HGNC ENSG00000054803 74 0 0 53 15 22.0588 PLCB1 0 genome.wustl.edu 37 20 8719977 8719977 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 20 8719977 8719977 C T SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.2278 p.R760C 1.000 pirsf_PLC-beta,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 62 0 0 53 17 24.2857 KRTAP10-5 0 genome.wustl.edu 37 21 45999976 45999976 + Silent SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 21 45999976 45999976 C T SNP KRTAP10-5 ENST00000400372 human ensembl 74_37 -1 known silent c.480 p.P160 0.001 NULL NULL - no_errors KRTAP10-5 HGNC ENSG00000241123 305 0 0 154 44 22.2222 GAB4 0 genome.wustl.edu 37 22 17473066 17473066 + Missense_Mutation SNP C C G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 22 17473066 17473066 C G SNP GAB4 ENST00000400588 human ensembl 74_37 -1 known missense c.175 p.A59P 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 162 0 0 108 26 19.403 IGLV6-57 0 genome.wustl.edu 37 22 22550502 22550502 + Missense_Mutation SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 22 22550502 22550502 C A SNP IGLV6-57 ENST00000390285 human ensembl 74_37 +1 known missense c.179 p.P60Q 0.000 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGLV6-57 HGNC ENSG00000211640 44 0 0 29 3 9.375 FBLN1 0 genome.wustl.edu 37 22 45928994 45928994 + Missense_Mutation SNP G G T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 22 45928994 45928994 G T SNP FBLN1 ENST00000327858 human ensembl 74_37 +1 known missense c.596 p.C199F 1.000 smart_EG-like_dom,pirsf_Fibulin-1 pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 74 0 0 18 8 30.7692 B4GALT4 0 genome.wustl.edu 37 3 118931416 118931416 + Missense_Mutation SNP C C G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 3 118931416 118931416 C G SNP B4GALT4 ENST00000359213 human ensembl 74_37 -1 known missense c.1015 p.D339H 1.000 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT4 HGNC ENSG00000121578 43 0 0 30 6 16.6667 EAF2 0 genome.wustl.edu 37 3 121554150 121554150 + Silent SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 3 121554150 121554150 A C SNP EAF2 ENST00000273668 human ensembl 74_37 +1 known silent c.18 p.G6 0.003 NULL pfam_Tscrpt_elong_fac_Eaf_N - no_errors EAF2 HGNC ENSG00000145088 63 0 0 25 7 21.875 STAG1 0 genome.wustl.edu 37 3 136141290 136141290 + Missense_Mutation SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 3 136141290 136141290 C A SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.1999 p.D667Y 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 93 0 0 48 11 18.6441 SI 0 genome.wustl.edu 37 3 164735642 164735642 + Silent SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 3 164735642 164735642 A C SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.3540 p.T1180 0.792 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 24 0 0 16 5 23.8095 SI 0 genome.wustl.edu 37 3 164764774 164764774 + Missense_Mutation SNP T T G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 3 164764774 164764774 T G SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.1742 p.K581T 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 36 0 0 14 6 30 ZBBX 0 genome.wustl.edu 37 3 166960393 166960393 + Missense_Mutation SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 3 166960393 166960393 A C SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known missense c.2293 p.F765V 0.275 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 62 0 0 32 9 21.9512 SERPINI2 0 genome.wustl.edu 37 3 167159899 167159899 + Nonstop_Mutation SNP A A G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 3 167159899 167159899 A G SNP SERPINI2 ENST00000264677 human ensembl 74_37 -1 known nonstop c.1216 p.*406R 1.000 NULL pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI2 HGNC ENSG00000114204 45 0 0 23 3 11.5385 CNTN4 0 genome.wustl.edu 37 3 3030113 3030113 + Missense_Mutation SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 3 3030113 3030113 C A SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.1443 p.N481K 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 79 0 0 35 23 39.6552 ZKSCAN7 0 genome.wustl.edu 37 3 44607107 44607107 + Silent SNP T T A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 3 44607107 44607107 T A SNP ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known silent c.552 p.P184 0.117 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN7 HGNC ENSG00000196345 108 0 0 75 19 20.2128 VGLL3 0 genome.wustl.edu 37 3 87027822 87027822 + Missense_Mutation SNP G G C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 3 87027822 87027822 G C SNP VGLL3 ENST00000398399 human ensembl 74_37 -1 known missense c.257 p.S86C 1.000 pfam_Vg_Tdu pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL3 HGNC ENSG00000206538 65 0 0 46 8 14.8148 NDST4 0 genome.wustl.edu 37 4 115891689 115891689 + Missense_Mutation SNP T T A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 4 115891689 115891689 T A SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known missense c.1118 p.E373V 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 47 0 0 24 7 22.5806 BBS7 0 genome.wustl.edu 37 4 122754433 122754433 + Missense_Mutation SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 4 122754433 122754433 A C SNP BBS7 ENST00000264499 human ensembl 74_37 -1 known missense c.1629 p.F543L 1.000 pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC ENSG00000138686 70 0 0 29 6 17.1429 GLRB 0 genome.wustl.edu 37 4 158060078 158060078 + Missense_Mutation SNP G G C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 4 158060078 158060078 G C SNP GLRB ENST00000264428 human ensembl 74_37 +1 known missense c.728 p.C243S 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC ENSG00000109738 84 0 0 47 6 11.3208 GRIA2 0 genome.wustl.edu 37 4 158257859 158257859 + Missense_Mutation SNP T T G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 4 158257859 158257859 T G SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.1804 p.L602V 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 115 0 0 44 31 41.3333 GRK4 0 genome.wustl.edu 37 4 3015511 3015511 + Silent SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 4 3015511 3015511 C T SNP GRK4 ENST00000398052 human ensembl 74_37 +1 known silent c.697 p.L233 0.956 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_GPCR_kinase pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK4 HGNC ENSG00000125388 145 0 0 71 10 12.3457 TLR10 0 genome.wustl.edu 37 4 38774898 38774898 + Nonsense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 4 38774898 38774898 G A SNP TLR10 ENST00000308973 human ensembl 74_37 -1 known nonsense c.2314 p.R772* 0.732 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR10 HGNC ENSG00000174123 80 0 0 53 10 15.873 ATP8A1 0 genome.wustl.edu 37 4 42524204 42524204 + Silent SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 4 42524204 42524204 G A SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known silent c.1920 p.L640 0.012 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 39 0 0 20 18 47.3684 FRYL 0 genome.wustl.edu 37 4 48611786 48611786 + Missense_Mutation SNP A A T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 4 48611786 48611786 A T SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.466 p.F156I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 31 0 0 11 5 31.25 LNX1 0 genome.wustl.edu 37 4 54364820 54364820 + Missense_Mutation SNP G G T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 4 54364820 54364820 G T SNP LNX1 ENST00000263925 human ensembl 74_37 -1 known missense c.966 p.D322E 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC ENSG00000072201 77 0 0 39 9 18.75 TECRL 0 genome.wustl.edu 37 4 65275058 65275058 + Missense_Mutation SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 4 65275058 65275058 C A SNP TECRL ENST00000381210 human ensembl 74_37 -1 known missense c.12 p.R4S 0.267 NULL pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 75 0 0 45 10 18.1818 EPHA5 0 genome.wustl.edu 37 4 66286191 66286191 + Missense_Mutation SNP T T C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 4 66286191 66286191 T C SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.1495 p.I499V 1.000 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 91 0 0 42 27 39.1304 TMPRSS11B 0 genome.wustl.edu 37 4 69094501 69094501 + Silent SNP A A G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 4 69094501 69094501 A G SNP TMPRSS11B ENST00000332644 human ensembl 74_37 -1 known silent c.1048 p.L350 0.916 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11B HGNC ENSG00000185873 61 0 0 40 9 18.3673 LIN54 0 genome.wustl.edu 37 4 83852254 83852254 + Missense_Mutation SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 4 83852254 83852254 C A SNP LIN54 ENST00000340417 human ensembl 74_37 -1 known missense c.1890 p.K630N 1.000 pfam_CRC pfam_CRC - no_errors LIN54 HGNC ENSG00000189308 72 0 0 50 10 16.6667 ZNF474 0 genome.wustl.edu 37 5 121487954 121487954 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 5 121487954 121487954 G A SNP ZNF474 ENST00000296600 human ensembl 74_37 +1 known missense c.269 p.R90H 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF474 HGNC ENSG00000164185 143 0 0 73 27 27 KIF3A 0 genome.wustl.edu 37 5 132056402 132056402 + Missense_Mutation SNP T T C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 5 132056402 132056402 T C SNP KIF3A ENST00000378735 human ensembl 74_37 -1 known missense c.515 p.K172R 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF3A HGNC ENSG00000131437 27 0 0 11 2 15.3846 ETF1 0 genome.wustl.edu 37 5 137854434 137854434 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 5 137854434 137854434 G A SNP ETF1 ENST00000360541 human ensembl 74_37 -1 known missense c.209 p.S70L 1.000 pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1 pfam_eRF1_2,pfam_eRF1_3,pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1 - no_errors ETF1 HGNC ENSG00000120705 146 0 0 80 14 14.8936 DND1 0 genome.wustl.edu 37 5 140051080 140051080 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 5 140051080 140051080 C T SNP DND1 ENST00000542735 human ensembl 74_37 -1 known missense c.860 p.R287H 0.975 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DND1 HGNC ENSG00000256453 16 0 0 11 6 35.2941 PCDHGB4 0 genome.wustl.edu 37 5 140769109 140769109 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 5 140769109 140769109 G A SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known missense c.1658 p.R553H 0.948 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 57 0 0 30 5 14.2857 TRIO 0 genome.wustl.edu 37 5 14291233 14291233 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 5 14291233 14291233 C T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.949 p.R317W 0.920 smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 116 0 0 71 12 14.4578 GLRA1 0 genome.wustl.edu 37 5 151234726 151234726 + Missense_Mutation SNP A A G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 5 151234726 151234726 A G SNP GLRA1 ENST00000455880 human ensembl 74_37 -1 known missense c.572 p.M191T 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A1,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA1 HGNC ENSG00000145888 105 0 0 76 14 15.5556 FAM71B 0 genome.wustl.edu 37 5 156590152 156590152 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 5 156590152 156590152 G A SNP FAM71B ENST00000302938 human ensembl 74_37 -1 known missense c.1124 p.A375V 0.004 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 61 0 0 34 9 20.9302 ITK 0 genome.wustl.edu 37 5 156635914 156635914 + Silent SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 5 156635914 156635914 G A SNP ITK ENST00000422843 human ensembl 74_37 +1 known silent c.153 p.L51 0.998 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 50 0 0 20 5 20 PDZD2 0 genome.wustl.edu 37 5 31983689 31983689 + Missense_Mutation SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 5 31983689 31983689 C A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.905 p.T302N 0.096 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 148 0 0 104 16 13.3333 SPEF2 0 genome.wustl.edu 37 5 35646909 35646909 + Missense_Mutation SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 5 35646909 35646909 A C SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.726 p.E242D 1.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 79 0 0 40 21 34.4262 NADK2 0 genome.wustl.edu 37 5 36197731 36197731 + Missense_Mutation SNP G G T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 5 36197731 36197731 G T SNP NADK2 ENST00000397338 human ensembl 74_37 -1 known missense c.613 p.P205T 1.000 pirsf_ATP-NAD-like_euk superfamily_ATP-NAD_kinase_PpnK-typ,pirsf_ATP-NAD-like_euk - no_errors NADK2 HGNC ENSG00000152620 38 0 0 28 6 17.6471 EGFLAM 0 genome.wustl.edu 37 5 38448449 38448449 + Nonsense_Mutation SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 5 38448449 38448449 C A SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known nonsense c.2535 p.Y845* 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 284 0 0 178 26 12.7451 FYB 0 genome.wustl.edu 37 5 39201957 39201957 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 5 39201957 39201957 G A SNP FYB ENST00000540520 human ensembl 74_37 -1 known missense c.1136 p.T379M 0.565 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 60 0 0 38 7 15.5556 ENC1 0 genome.wustl.edu 37 5 73930697 73930697 + Missense_Mutation SNP G G T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 5 73930697 73930697 G T SNP ENC1 ENST00000302351 human ensembl 74_37 -1 known missense c.1614 p.N538K 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors ENC1 HGNC ENSG00000171617 84 0 0 33 11 25 IQGAP2 0 genome.wustl.edu 37 5 75932871 75932871 + Missense_Mutation SNP G G C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 5 75932871 75932871 G C SNP IQGAP2 ENST00000274364 human ensembl 74_37 +1 known missense c.1793 p.G598A 0.985 superfamily_WW_dom,pfscan_WW_dom pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 69 0 0 24 10 29.4118 VCAN 0 genome.wustl.edu 37 5 82832889 82832889 + Missense_Mutation SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 5 82832889 82832889 C A SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.4067 p.P1356H 1.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 62 0 0 29 3 9.375 LAMA4 0 genome.wustl.edu 37 6 112460964 112460964 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 6 112460964 112460964 G A SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.3100 p.P1034S 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 112 0 0 90 5 5.26316 ROS1 0 genome.wustl.edu 37 6 117632273 117632273 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 6 117632273 117632273 C T SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.6143 p.G2048D 0.996 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 77 0 0 49 10 16.9492 BCLAF1 0 genome.wustl.edu 37 6 136597399 136597399 + Missense_Mutation SNP T T G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 6 136597399 136597399 T G SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.1264 p.S422R 0.999 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 275 0 0 273 19 6.50685 UTRN 0 genome.wustl.edu 37 6 145073047 145073047 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 6 145073047 145073047 C T SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.8314 p.R2772C 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,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 60 0 0 54 5 8.47458 GRM1 0 genome.wustl.edu 37 6 146350944 146350944 + Silent SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 6 146350944 146350944 C A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known silent c.291 p.P97 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 37 0 0 29 5 14.7059 SYNE1 0 genome.wustl.edu 37 6 152804313 152804313 + Silent SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 6 152804313 152804313 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.1257 p.Y419 0.943 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 154 0 0 93 22 19.1304 TAGAP 0 genome.wustl.edu 37 6 159457507 159457507 + Missense_Mutation SNP G G T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 6 159457507 159457507 G T SNP TAGAP ENST00000367066 human ensembl 74_37 -1 known missense c.1548 p.H516Q 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors TAGAP HGNC ENSG00000164691 131 0 0 64 28 30.4348 SLC22A2 0 genome.wustl.edu 37 6 160679467 160679467 + Missense_Mutation SNP G G T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 6 160679467 160679467 G T SNP SLC22A2 ENST00000366953 human ensembl 74_37 -1 known missense c.323 p.A108D 0.958 pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A2 HGNC ENSG00000112499 105 0 0 77 13 14.4444 OR2B2 0 genome.wustl.edu 37 6 27879098 27879098 + Missense_Mutation SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 6 27879098 27879098 A C SNP OR2B2 ENST00000303324 human ensembl 74_37 -1 known missense c.1000 p.F334V 0.013 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B2 HGNC ENSG00000168131 80 0 0 45 22 32.8358 MDC1 0 genome.wustl.edu 37 6 30680770 30680770 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 6 30680770 30680770 G A SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.949 p.H317Y 0.113 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 136 0 0 97 12 11.0092 USP49 0 genome.wustl.edu 37 6 41774582 41774582 + Missense_Mutation SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 6 41774582 41774582 C A SNP USP49 ENST00000373009 human ensembl 74_37 -1 known missense c.140 p.G47V 1.000 pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP49 HGNC ENSG00000164663 131 0 0 103 38 26.9504 KLHDC3 0 genome.wustl.edu 37 6 42987057 42987057 + Silent SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 6 42987057 42987057 C T SNP KLHDC3 ENST00000326974 human ensembl 74_37 +1 known silent c.1035 p.A345 0.110 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC3 HGNC ENSG00000124702 455 1 0.219298 324 41 11.2329 FILIP1 0 genome.wustl.edu 37 6 76072590 76072590 + Missense_Mutation SNP T T G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 6 76072590 76072590 T G SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known missense c.320 p.K107T 0.963 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 195 0 0 110 48 30.3797 NAMPT 0 genome.wustl.edu 37 7 105893567 105893567 + Missense_Mutation SNP G G T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 7 105893567 105893567 G T SNP NAMPT ENST00000222553 human ensembl 74_37 -1 known missense c.1261 p.P421T 1.000 pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase - no_errors NAMPT HGNC ENSG00000105835 53 0 0 132 11 7.69231 DLD 0 genome.wustl.edu 37 7 107542829 107542829 + Missense_Mutation SNP T T G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 7 107542829 107542829 T G SNP DLD ENST00000205402 human ensembl 74_37 +1 known missense c.258 p.I86M 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_GIDA-rel,tigrfam_Lipoamide_DH pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH - no_errors DLD HGNC ENSG00000091140 55 0 0 54 8 12.9032 PNPLA8 0 genome.wustl.edu 37 7 108154736 108154736 + Missense_Mutation SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 7 108154736 108154736 A C SNP PNPLA8 ENST00000257694 human ensembl 74_37 -1 known missense c.1058 p.I353S 1.000 superfamily_ARM-type_fold pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold - no_errors PNPLA8 HGNC ENSG00000135241 239 0 0 206 66 24.2647 GRM8 0 genome.wustl.edu 37 7 126086390 126086390 + Missense_Mutation SNP T T C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 7 126086390 126086390 T C SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.2467 p.S823G 1.000 pfam_GPCR_3_C,prints_GPCR_3_mtglu_rcpt,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 39 0 0 20 4 16.6667 RBM28 0 genome.wustl.edu 37 7 127950817 127950817 + RNA SNP C C G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 7 127950817 127950817 C G SNP RBM28 ENST00000481788 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RBM28 HGNC ENSG00000106344 162 0 0 71 14 16.4706 OR2F2 0 genome.wustl.edu 37 7 143632632 143632632 + Missense_Mutation SNP T T G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 7 143632632 143632632 T G SNP OR2F2 ENST00000408955 human ensembl 74_37 +1 known missense c.307 p.F103V 0.775 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 OR2F2 HGNC ENSG00000221910 173 0 0 78 23 22.7723 OR2A2 0 genome.wustl.edu 37 7 143807484 143807484 + Missense_Mutation SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 7 143807484 143807484 A C SNP OR2A2 ENST00000408979 human ensembl 74_37 +1 known missense c.809 p.E270A 0.300 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A2 HGNC ENSG00000221989 195 0 0 103 66 39.0533 SSPO 0 genome.wustl.edu 37 7 149480254 149480254 + RNA SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 7 149480254 149480254 C T SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.065 - - - no_errors SSPO HGNC ENSG00000197558 22 0 0 8 7 46.6667 STAG3L4 0 genome.wustl.edu 37 7 66773946 66773946 + RNA SNP G G T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 7 66773946 66773946 G T SNP STAG3L4 ENST00000416602 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors STAG3L4 HGNC ENSG00000106610 94 0 0 59 19 24.359 COL28A1 0 genome.wustl.edu 37 7 7572474 7572474 + Silent SNP C C G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 7 7572474 7572474 C G SNP COL28A1 ENST00000399429 human ensembl 74_37 -1 known silent c.33 p.L11 0.996 NULL pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 103 0 0 118 33 21.8543 ZFPM2 0 genome.wustl.edu 37 8 106573610 106573610 + Silent SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 8 106573610 106573610 G A SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known silent c.321 p.Q107 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 45 0 0 72 7 8.86076 TMEM74 0 genome.wustl.edu 37 8 109796429 109796429 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 8 109796429 109796429 G A SNP TMEM74 ENST00000297459 human ensembl 74_37 -1 known missense c.899 p.A300V 0.850 NULL NULL - no_errors TMEM74 HGNC ENSG00000164841 58 0 0 25 37 59.6774 KCNV1 0 genome.wustl.edu 37 8 110986286 110986286 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 8 110986286 110986286 C T SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.332 p.R111Q 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 25 0 0 31 4 11.4286 CSMD3 0 genome.wustl.edu 37 8 113249424 113249424 + Missense_Mutation SNP A A G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 8 113249424 113249424 A G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.10622 p.L3541P 0.994 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 99 0 0 134 30 18.2927 CSMD3 0 genome.wustl.edu 37 8 113349775 113349775 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 8 113349775 113349775 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.6838 p.E2280K 1.000 superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 62 0 0 66 11 14.2857 POTEA 0 genome.wustl.edu 37 8 43171053 43171053 + RNA SNP A A G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 8 43171053 43171053 A G SNP POTEA ENST00000522175 human ensembl 74_37 +1 known rna NULL NULL 0.303 - - - no_errors POTEA HGNC ENSG00000188877 47 0 0 26 7 21.2121 RP1 0 genome.wustl.edu 37 8 55540286 55540286 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 8 55540286 55540286 C T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.3844 p.P1282S 0.001 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 164 0 0 81 19 19 MATN2 0 genome.wustl.edu 37 8 99006715 99006715 + Missense_Mutation SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 8 99006715 99006715 C A SNP MATN2 ENST00000254898 human ensembl 74_37 +1 known missense c.1089 p.D363E 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC ENSG00000132561 259 1 0.384615 289 29 9.1195 TLR4 0 genome.wustl.edu 37 9 120474710 120474710 + Missense_Mutation SNP A A G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 9 120474710 120474710 A G SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.304 p.S102G 0.000 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 66 0 0 50 4 7.40741 BRINP1 0 genome.wustl.edu 37 9 122011416 122011416 + Silent SNP A A T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 9 122011416 122011416 A T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known silent c.231 p.R77 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 53 0 0 34 11 24.4444 CEL 0 genome.wustl.edu 37 9 135942255 135942255 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 9 135942255 135942255 C T SNP CEL ENST00000372080 human ensembl 74_37 +1 known missense c.709 p.R237W 0.987 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 33 0 0 10 4 28.5714 NOTCH1 0 genome.wustl.edu 37 9 139410511 139410511 + Nonsense_Mutation SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 9 139410511 139410511 C A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known nonsense c.1591 p.E531* 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 68 0 0 54 3 5.26316 PHPT1 0 genome.wustl.edu 37 9 139744542 139744542 + Missense_Mutation SNP T T C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 9 139744542 139744542 T C SNP PHPT1 ENST00000247665 human ensembl 74_37 +1 known missense c.238 p.S80P 1.000 pfam_Ocnus pfam_Ocnus - no_errors PHPT1 HGNC ENSG00000054148 128 0 0 55 23 29.4872 ABCA2 0 genome.wustl.edu 37 9 139903860 139903860 + Silent SNP G G T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 9 139903860 139903860 G T SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known silent c.6789 p.R2263 0.960 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 34 0 0 32 8 20 TEK 0 genome.wustl.edu 37 9 27203086 27203086 + Silent SNP T T C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 9 27203086 27203086 T C SNP TEK ENST00000380036 human ensembl 74_37 +1 known silent c.2178 p.S726 0.957 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 61 0 0 30 17 36.1702 SPINK4 0 genome.wustl.edu 37 9 33246723 33246723 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 9 33246723 33246723 G A SNP SPINK4 ENST00000379723 human ensembl 74_37 +1 known missense c.281 p.R94Q 0.882 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK4 HGNC ENSG00000122711 68 0 0 68 9 11.6883 CA9 0 genome.wustl.edu 37 9 35675761 35675761 + Missense_Mutation SNP A A T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 9 35675761 35675761 A T SNP CA9 ENST00000378357 human ensembl 74_37 +1 known missense c.437 p.D146V 0.609 superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA9 HGNC ENSG00000107159 30 0 0 70 6 7.89474 MAMDC2 0 genome.wustl.edu 37 9 72785543 72785543 + Silent SNP G G C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 9 72785543 72785543 G C SNP MAMDC2 ENST00000377182 human ensembl 74_37 +1 known silent c.1647 p.G549 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors MAMDC2 HGNC ENSG00000165072 39 0 0 32 3 8.57143 SPATA31D1 0 genome.wustl.edu 37 9 84605815 84605815 + Missense_Mutation SNP C C A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 9 84605815 84605815 C A SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.430 p.L144M 0.002 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 69 0 0 59 12 16.9014 SECISBP2 0 genome.wustl.edu 37 9 91954828 91954828 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 9 91954828 91954828 G A SNP SECISBP2 ENST00000375807 human ensembl 74_37 +1 known missense c.1262 p.R421K 0.996 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2 HGNC ENSG00000187742 76 0 0 56 11 16.4179 PTCH1 0 genome.wustl.edu 37 9 98268846 98268846 + Silent SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 9 98268846 98268846 C T SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known silent c.237 p.L79 1.000 tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 49 0 0 23 9 28.125 ZMAT1 0 genome.wustl.edu 37 X 101138598 101138598 + Missense_Mutation SNP T T A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 X 101138598 101138598 T A SNP ZMAT1 ENST00000372782 human ensembl 74_37 -1 known missense c.1801 p.S601C 0.777 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 128 0 0 125 21 14.3836 IRS4 0 genome.wustl.edu 37 X 107978448 107978448 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 X 107978448 107978448 C T SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.1127 p.R376H 1.000 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 204 0 0 110 67 37.8531 GUCY2F 0 genome.wustl.edu 37 X 108638688 108638688 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 X 108638688 108638688 G A SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known missense c.2306 p.P769L 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_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 277 0 0 208 27 11.4894 AMMECR1 0 genome.wustl.edu 37 X 109444244 109444244 + Silent SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 X 109444244 109444244 C T SNP AMMECR1 ENST00000262844 human ensembl 74_37 -1 known silent c.825 p.L275 1.000 pfam_AMMECR1_domain,superfamily_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 pfam_AMMECR1_domain,superfamily_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 - no_errors AMMECR1 HGNC ENSG00000101935 154 0 0 102 65 38.9222 IL13RA2 0 genome.wustl.edu 37 X 114249023 114249023 + Missense_Mutation SNP T T G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 X 114249023 114249023 T G SNP IL13RA2 ENST00000243213 human ensembl 74_37 -1 known missense c.361 p.S121R 0.923 superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL13RA2 HGNC ENSG00000123496 172 0 0 140 15 9.67742 CT47B1 0 genome.wustl.edu 37 X 120009353 120009353 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 X 120009353 120009353 C T SNP CT47B1 ENST00000371311 human ensembl 74_37 -1 known missense c.172 p.V58M 0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 89 0 0 53 35 39.7727 FAM45B 0 genome.wustl.edu 37 X 129629816 129629816 + RNA SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 X 129629816 129629816 G A SNP FAM45B ENST00000592932 human ensembl 74_37 +1 known rna NULL NULL 0.832 - - - no_errors FAM45B HGNC ENSG00000221930 127 0 0 113 21 15.6716 GPR112 0 genome.wustl.edu 37 X 135427615 135427615 + Missense_Mutation SNP T T G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 X 135427615 135427615 T G SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.1750 p.L584V 0.008 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 67 0 0 73 10 12.0482 CD40LG 0 genome.wustl.edu 37 X 135738537 135738537 + Silent SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 X 135738537 135738537 G A SNP CD40LG ENST00000370629 human ensembl 74_37 +1 known silent c.369 p.A123 0.697 superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom,prints_TNF_ligand_5 - no_errors CD40LG HGNC ENSG00000102245 172 0 0 164 23 12.2995 MIR509-2 0 genome.wustl.edu 37 X 146340278 146340278 + RNA SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 X 146340278 146340278 G A SNP MIR509-2 ENST00000390724 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR509-2 HGNC ENSG00000212013 90 0 0 49 54 52.4272 FTHL17 0 genome.wustl.edu 37 X 31089731 31089731 + Missense_Mutation SNP T T C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 X 31089731 31089731 T C SNP FTHL17 ENST00000359202 human ensembl 74_37 -1 known missense c.340 p.S114G 0.991 pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTHL17 HGNC ENSG00000132446 87 0 0 80 23 22.3301 MED14 0 genome.wustl.edu 37 X 40511086 40511086 + Missense_Mutation SNP A A C TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 X 40511086 40511086 A C SNP MED14 ENST00000324817 human ensembl 74_37 -1 known missense c.4337 p.L1446R 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 31 0 0 17 6 26.087 PRICKLE3 0 genome.wustl.edu 37 X 49032441 49032441 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 X 49032441 49032441 G A SNP PRICKLE3 ENST00000376317 human ensembl 74_37 -1 known missense c.1429 p.R477C 0.084 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC ENSG00000012211 23 0 0 12 5 29.4118 NLGN3 0 genome.wustl.edu 37 X 70389196 70389196 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 X 70389196 70389196 G A SNP NLGN3 ENST00000358741 human ensembl 74_37 +1 known missense c.1796 p.R599Q 0.974 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 29 0 0 21 3 12.5 XIST 0 genome.wustl.edu 37 X 73046140 73046140 + RNA SNP A A T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 X 73046140 73046140 A T SNP XIST ENST00000416330 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors XIST HGNC ENSG00000229807 106 0 0 97 16 14.1593 SLC16A2 0 genome.wustl.edu 37 X 73740839 73740839 + Missense_Mutation SNP C C T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 X 73740839 73740839 C T SNP SLC16A2 ENST00000276033 human ensembl 74_37 +1 known missense c.667 p.L223F 0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A2 HGNC ENSG00000147100 141 0 0 148 22 12.9412 MAGEE1 0 genome.wustl.edu 37 X 75650661 75650661 + Missense_Mutation SNP A A G TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 X 75650661 75650661 A G SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.2338 p.S780G 0.788 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 121 0 0 99 19 16.1017 PCDH11X 0 genome.wustl.edu 37 X 91456413 91456413 + Missense_Mutation SNP G G A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 X 91456413 91456413 G A SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.3073 p.E1025K 0.575 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 66 0 0 48 7 12.7273 LCE4A 0 genome.wustl.edu 37 1 152681619 152681620 + Frame_Shift_Ins INS - - A TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 1 152681619 152681620 - A INS LCE4A ENST00000335535 human ensembl 74_37 +1 known frame_shift_ins c.68_69 p.C25fs 0.026:0.000 NULL NULL - no_errors LCE4A HGNC ENSG00000187170 217 0 0 232 19 7.56972 CTNNA3 0 genome.wustl.edu 37 10 68535270 68535271 + Frame_Shift_Ins INS - - T TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 10 68535270 68535271 - T INS CTNNA3 ENST00000373744 human ensembl 74_37 -1 known frame_shift_ins c.1060_1059 p.E353fs 1.000:0.960 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 214 0 0 153 22 12.5714 FGF14 0 genome.wustl.edu 37 13 102379130 102379130 + Frame_Shift_Del DEL C C - TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 13 102379130 102379130 C - DEL FGF14 ENST00000376131 human ensembl 74_37 -1 known frame_shift_del c.454 p.E152fs 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF14 HGNC ENSG00000102466 33 0 0 43 5 10.4167 SPATA7 0 genome.wustl.edu 37 14 88904692 88904694 + In_Frame_Del DEL AAT AAT - TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 AAT AAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 14 88904692 88904694 AAT - DEL SPATA7 ENST00000393545 human ensembl 74_37 +1 known in_frame_del c.1726_1728 p.N577in_frame_del 0.000:0.000:0.000 NULL NULL - no_errors SPATA7 HGNC ENSG00000042317 45 0 0 44 10 18.5185 PRSS22 0 genome.wustl.edu 37 16 2903991 2903996 + In_Frame_Del DEL GCTTCT GCTTCT - TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 GCTTCT GCTTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 16 2903991 2903996 GCTTCT - DEL PRSS22 ENST00000161006 human ensembl 74_37 -1 known in_frame_del c.592_587 p.QK196in_frame_del 0.971:0.995:1.000:1.000:1.000:1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS22 HGNC ENSG00000005001 188 0 0 277 17 5.78231 TP53 0 genome.wustl.edu 37 17 7573993 7573994 + Frame_Shift_Ins INS - - TCAGC TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 17 7573993 7573994 - TCAGC INS TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_ins c.1034_1033 p.N345fs 0.998:0.995 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,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 76 0 0 25 10 28.5714 RAB3GAP1 0 genome.wustl.edu 37 2 135884189 135884190 + Frame_Shift_Ins INS - - AA TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 2 135884189 135884190 - AA INS RAB3GAP1 ENST00000264158 human ensembl 74_37 +1 known frame_shift_ins c.936_937 p.R312fs 1.000:1.000 NULL NULL - no_errors RAB3GAP1 HGNC ENSG00000115839 186 0 0 132 17 11.4094 OR2B6 0 genome.wustl.edu 37 6 27925096 27925097 + Frame_Shift_Ins INS - - CTCC TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 6 27925096 27925097 - CTCC INS OR2B6 ENST00000244623 human ensembl 74_37 +1 known frame_shift_ins c.78_79 p.L27fs 0.017:0.517 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B6 HGNC ENSG00000124657 117 0 0 100 15 13.0435 COL15A1 0 genome.wustl.edu 37 9 101797335 101797335 + Frame_Shift_Del DEL A A - TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 9 101797335 101797335 A - DEL COL15A1 ENST00000375001 human ensembl 74_37 +1 known frame_shift_del c.2119 p.K708fs 0.998 pfam_Collagen pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 91 0 0 71 9 11.25 MLLT3 0 genome.wustl.edu 37 9 20456715 20456720 + In_Frame_Del DEL TAAACT TAAACT - TCGA-D7-6526-01A-11D-1800-08 TCGA-D7-6526-10A-01D-1800-08 TAAACT TAAACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 52e88967-ce7a-4a51-95b7-1a6b0738a4b4 ea4ce17b-1b87-4bf8-a9ff-451bad9e7c61 9 20456715 20456720 TAAACT - DEL MLLT3 ENST00000380338 human ensembl 74_37 -1 known in_frame_del c.263_258 p.EVY86in_frame_delD 1.000:1.000:1.000:1.000:1.000:1.000 pfam_YEATS,pfscan_YEATS pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 92 0 0 35 5 12.5