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 CLCN6 0 genome.wustl.edu 37 1 11894018 11894018 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 11894018 11894018 G A SNP CLCN6 ENST00000346436 human ensembl 74_37 +1 known missense c.1457 p.S486N 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC ENSG00000011021 132 0 0 32 34 51.5152 PRAMEF1 0 genome.wustl.edu 37 1 12855741 12855741 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 12855741 12855741 G A SNP PRAMEF1 ENST00000332296 human ensembl 74_37 +1 known missense c.1021 p.G341R 0.001 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 288 0 0 209 49 18.9922 ENSG00000234978 0 genome.wustl.edu 37 1 142803493 142803493 + RNA SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 142803493 142803493 T C SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.051 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 37 0 0 35 4 10.2564 GJA8 0 genome.wustl.edu 37 1 147380514 147380514 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 147380514 147380514 G C SNP GJA8 ENST00000240986 human ensembl 74_37 +1 known missense c.432 p.E144D 1.000 NULL pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50 - no_errors GJA8 HGNC ENSG00000121634 176 0 0 122 49 28.655 TMOD4 0 genome.wustl.edu 37 1 151144155 151144155 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 151144155 151144155 C T SNP TMOD4 ENST00000295314 human ensembl 74_37 -1 known missense c.572 p.R191Q 0.935 NULL pfam_Tropomodulin - no_errors TMOD4 HGNC ENSG00000163157 64 0 0 49 32 39.5062 LCE1F 0 genome.wustl.edu 37 1 152748860 152748860 + Missense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 152748860 152748860 C A SNP LCE1F ENST00000334371 human ensembl 74_37 +1 known missense c.13 p.Q5K 1.000 NULL NULL - no_errors LCE1F HGNC ENSG00000240386 107 0 0 88 14 13.7255 SHC1 0 genome.wustl.edu 37 1 154938440 154938440 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 154938440 154938440 G A SNP SHC1 ENST00000368445 human ensembl 74_37 -1 known missense c.1366 p.R456W 1.000 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC1 HGNC ENSG00000160691 135 0 0 154 53 25.6039 CELA2B 0 genome.wustl.edu 37 1 15807638 15807638 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 15807638 15807638 G A SNP CELA2B ENST00000375910 human ensembl 74_37 +1 known missense c.175 p.G59R 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CELA2B HGNC ENSG00000215704 143 0 0 109 9 7.62712 CD1C 0 genome.wustl.edu 37 1 158259916 158259916 + Splice_Site SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 158259916 158259916 G C SNP CD1C ENST00000368170 human ensembl 74_37 +1 known splice_site c.61+1 e1+1 0.000 - - - no_errors CD1C HGNC ENSG00000158481 87 0 0 75 9 10.7143 OR6N1 0 genome.wustl.edu 37 1 158735671 158735671 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 158735671 158735671 G C SNP OR6N1 ENST00000335094 human ensembl 74_37 -1 known missense c.802 p.L268V 0.025 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N1 HGNC ENSG00000197403 161 0 0 251 24 8.72727 F5 0 genome.wustl.edu 37 1 169519916 169519916 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 169519916 169519916 G A SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.1358 p.S453L 0.996 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 35 0 0 76 5 6.17284 PADI2 0 genome.wustl.edu 37 1 17395561 17395561 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 17395561 17395561 T G SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known missense c.1976 p.K659T 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 150 0 0 84 51 37.7778 PADI2 0 genome.wustl.edu 37 1 17431375 17431375 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 17431375 17431375 T G SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known missense c.274 p.K92Q 1.000 pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 120 0 0 54 24 30.7692 KCNT2 0 genome.wustl.edu 37 1 196309469 196309469 + Splice_Site SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 196309469 196309469 A C SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known splice_site c.1783+2 e16+2 1.000 - - - no_errors KCNT2 HGNC ENSG00000162687 31 0 0 61 9 12.8571 ASPM 0 genome.wustl.edu 37 1 197097721 197097721 + Silent SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 197097721 197097721 G T SNP ASPM ENST00000367409 human ensembl 74_37 -1 known silent c.2835 p.G945 0.997 superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 40 0 0 78 13 14.2857 PKP1 0 genome.wustl.edu 37 1 201289088 201289088 + RNA SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 201289088 201289088 G A SNP PKP1 ENST00000475988 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PKP1 HGNC ENSG00000081277 29 0 0 27 4 12.9032 TNNI1 0 genome.wustl.edu 37 1 201380578 201380578 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 201380578 201380578 G A SNP TNNI1 ENST00000336092 human ensembl 74_37 -1 known silent c.363 p.D121 0.941 pfam_Troponin pfam_Troponin - no_errors TNNI1 HGNC ENSG00000159173 53 0 0 46 11 19.2982 USH2A 0 genome.wustl.edu 37 1 216262389 216262389 + Silent SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 216262389 216262389 A G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.4851 p.A1617 0.854 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 59 0 0 78 13 14.2857 ESRRG 0 genome.wustl.edu 37 1 216737618 216737618 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 216737618 216737618 A T SNP ESRRG ENST00000408911 human ensembl 74_37 -1 known missense c.805 p.C269S 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd 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 81 0 0 110 11 9.09091 ZBTB40 0 genome.wustl.edu 37 1 22838278 22838278 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 22838278 22838278 G T SNP ZBTB40 ENST00000375647 human ensembl 74_37 +1 known missense c.2112 p.Q704H 0.010 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 29 0 0 20 16 44.4444 DESI2 0 genome.wustl.edu 37 1 244816612 244816612 + RNA SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 244816612 244816612 G A SNP DESI2 ENST00000484738 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DESI2 HGNC ENSG00000121644 91 0 0 59 14 19.1781 OR11L1 0 genome.wustl.edu 37 1 248004253 248004253 + Missense_Mutation SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 248004253 248004253 T C SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known missense c.946 p.S316G 0.001 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 47 0 0 92 8 8 OR2AK2 0 genome.wustl.edu 37 1 248128748 248128748 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 248128748 248128748 A T SNP OR2AK2 ENST00000366480 human ensembl 74_37 +1 known missense c.115 p.N39Y 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AK2 HGNC ENSG00000187080 130 0 0 145 19 11.5854 OR2L5 0 genome.wustl.edu 37 1 248185522 248185522 + Silent SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 248185522 248185522 C A SNP OR2L5 ENST00000355281 human ensembl 74_37 +1 known silent c.273 p.I91 0.222 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L5 HGNC ENSG00000197454 117 0 0 161 25 13.4409 OR2M5 0 genome.wustl.edu 37 1 248309140 248309140 + Nonsense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 248309140 248309140 G T SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known nonsense c.691 p.G231* 0.400 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 231 0 0 353 50 12.4069 OR2T1 0 genome.wustl.edu 37 1 248570106 248570106 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 248570106 248570106 A T SNP OR2T1 ENST00000366474 human ensembl 74_37 +1 known missense c.811 p.I271F 0.826 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 OR2T1 HGNC ENSG00000175143 70 0 0 83 44 34.6457 TRIM63 0 genome.wustl.edu 37 1 26385077 26385077 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 26385077 26385077 T G SNP TRIM63 ENST00000374272 human ensembl 74_37 -1 known missense c.635 p.K212T 1.000 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM63 HGNC ENSG00000158022 166 0 0 64 20 23.8095 KANK4 0 genome.wustl.edu 37 1 62703978 62703978 + Missense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 62703978 62703978 C A SNP KANK4 ENST00000371153 human ensembl 74_37 -1 known missense c.2959 p.A987S 0.551 pfscan_Ankyrin_rpt-contain_dom pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 46 0 0 36 3 7.69231 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74665404 74665404 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 74665404 74665404 G A SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.178 p.E60K 0.999 NULL pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 62 0 0 50 13 20.6349 ERRFI1 0 genome.wustl.edu 37 1 8073678 8073678 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 8073678 8073678 C T SNP ERRFI1 ENST00000377482 human ensembl 74_37 -1 known silent c.981 p.P327 0.974 pfam_Inhibitor_Mig-6 pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6 - no_errors ERRFI1 HGNC ENSG00000116285 261 0 0 157 80 33.7553 CPXM2 0 genome.wustl.edu 37 10 125622198 125622198 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 10 125622198 125622198 A T SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.445 p.F149I 1.000 superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 68 0 0 23 12 34.2857 CUBN 0 genome.wustl.edu 37 10 16932428 16932428 + Silent SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 10 16932428 16932428 A G SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.8697 p.T2899 0.051 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 95 0 0 64 17 20.9877 CUBN 0 genome.wustl.edu 37 10 17127608 17127608 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 10 17127608 17127608 A C SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.2098 p.L700V 1.000 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 99 0 0 74 22 22.9167 GPR158 0 genome.wustl.edu 37 10 25755587 25755587 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 10 25755587 25755587 G A SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.1343 p.R448Q 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 42 0 0 28 10 26.3158 LYZL2 0 genome.wustl.edu 37 10 30915179 30915179 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 10 30915179 30915179 C T SNP LYZL2 ENST00000375318 human ensembl 74_37 -1 known silent c.291 p.A97 0.016 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL2 HGNC ENSG00000151033 113 0 0 55 26 32.0988 RET 0 genome.wustl.edu 37 10 43610164 43610164 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 10 43610164 43610164 G A SNP RET ENST00000355710 human ensembl 74_37 +1 known missense c.2116 p.V706M 0.983 pirsf_Tyr_kinase_Ret_rcpt pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 51 0 0 20 12 37.5 PCDH15 0 genome.wustl.edu 37 10 55700715 55700715 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 10 55700715 55700715 A C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.3143 p.L1048R 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 36 0 0 18 16 47.0588 HERC4 0 genome.wustl.edu 37 10 69684937 69684937 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 10 69684937 69684937 T G SNP HERC4 ENST00000395198 human ensembl 74_37 -1 known missense c.2870 p.E957A 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 15 0 0 18 7 28 POLR3A 0 genome.wustl.edu 37 10 79777454 79777454 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 10 79777454 79777454 C T SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.1310 p.R437Q 1.000 pfam_RNA_pol_asu,smart_RNA_pol_N pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 88 0 0 51 27 34.6154 GRID1 0 genome.wustl.edu 37 10 87966198 87966198 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 10 87966198 87966198 C T SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.443 p.R148H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 88 0 0 34 25 42.3729 PDGFD 0 genome.wustl.edu 37 11 103797824 103797824 + Missense_Mutation SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 11 103797824 103797824 T C SNP PDGFD ENST00000393158 human ensembl 74_37 -1 known missense c.803 p.K268R 1.000 pfscan_PDGF/VEGF_dom pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFD HGNC ENSG00000170962 58 0 0 66 4 5.71429 ARHGAP20 0 genome.wustl.edu 37 11 110450220 110450220 + Silent SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 11 110450220 110450220 A C SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known silent c.3450 p.S1150 0.004 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 108 0 0 123 19 13.3803 OR4D5 0 genome.wustl.edu 37 11 123810804 123810804 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 11 123810804 123810804 G T SNP OR4D5 ENST00000307033 human ensembl 74_37 +1 known missense c.481 p.A161S 0.008 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D5 HGNC ENSG00000171014 102 0 0 127 21 14.1892 OR10S1 0 genome.wustl.edu 37 11 123847867 123847867 + Missense_Mutation SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 11 123847867 123847867 A G SNP OR10S1 ENST00000531945 human ensembl 74_37 -1 known missense c.532 p.F178L 0.752 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10S1 HGNC ENSG00000196248 101 0 0 96 17 15.0442 THYN1 0 genome.wustl.edu 37 11 134118356 134118356 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 11 134118356 134118356 G T SNP THYN1 ENST00000341541 human ensembl 74_37 -1 known missense c.654 p.S218R 1.000 pfam_EVE_domain,superfamily_PUA-like_domain pfam_EVE_domain,superfamily_PUA-like_domain - no_errors THYN1 HGNC ENSG00000151500 90 0 0 32 132 80.4878 B3GAT1 0 genome.wustl.edu 37 11 134257495 134257495 + Missense_Mutation SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 11 134257495 134257495 A G SNP B3GAT1 ENST00000537389 human ensembl 74_37 -1 known missense c.98 p.L33P 1.000 NULL pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 96 0 0 168 9 5.08475 OR4C11 0 genome.wustl.edu 37 11 55371231 55371231 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 11 55371231 55371231 T G SNP OR4C11 ENST00000302231 human ensembl 74_37 -1 known missense c.619 p.S207R 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C11 HGNC ENSG00000172188 30 0 0 27 47 63.5135 OR52N1 0 genome.wustl.edu 37 11 5809914 5809914 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 11 5809914 5809914 A C SNP OR52N1 ENST00000317078 human ensembl 74_37 -1 known missense c.133 p.F45V 0.442 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N1 HGNC ENSG00000181001 47 0 0 24 25 51.0204 RTN3 0 genome.wustl.edu 37 11 63487876 63487876 + Silent SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 11 63487876 63487876 T C SNP RTN3 ENST00000377819 human ensembl 74_37 +1 known silent c.1902 p.Y634 0.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 63 0 0 33 33 50 ZNF215 0 genome.wustl.edu 37 11 6977491 6977491 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 11 6977491 6977491 T G SNP ZNF215 ENST00000278319 human ensembl 74_37 +1 known missense c.1283 p.L428R 0.307 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF215 HGNC ENSG00000149054 40 0 0 13 36 73.4694 C2CD3 0 genome.wustl.edu 37 11 73811600 73811600 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 11 73811600 73811600 A C SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.2702 p.L901R 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 77 0 0 57 240 80.8081 USP35 0 genome.wustl.edu 37 11 77907439 77907439 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 11 77907439 77907439 G A SNP USP35 ENST00000529308 human ensembl 74_37 +1 known missense c.148 p.V50M 0.991 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 15 0 0 39 7 15.2174 SYTL2 0 genome.wustl.edu 37 11 85428535 85428535 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 11 85428535 85428535 C T SNP SYTL2 ENST00000354566 human ensembl 74_37 -1 known missense c.2620 p.V874I 0.787 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 60 0 0 65 11 14.4737 CLEC2B 0 genome.wustl.edu 37 12 10005914 10005914 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 12 10005914 10005914 C T SNP CLEC2B ENST00000228438 human ensembl 74_37 -1 known silent c.435 p.R145 0.124 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC2B HGNC ENSG00000110852 22 0 0 248 101 28.9398 ANO4 0 genome.wustl.edu 37 12 101437374 101437374 + Silent SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 12 101437374 101437374 T C SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known silent c.1212 p.C404 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 46 0 0 27 21 43.75 CLEC9A 0 genome.wustl.edu 37 12 10213760 10213760 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 12 10213760 10213760 A C SNP CLEC9A ENST00000355819 human ensembl 74_37 +1 putative missense c.207 p.Q69H 0.998 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC9A HGNC ENSG00000197992 28 0 0 206 14 6.36364 SLC15A4 0 genome.wustl.edu 37 12 129294499 129294499 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 12 129294499 129294499 C T SNP SLC15A4 ENST00000266771 human ensembl 74_37 -1 known missense c.1000 p.V334M 1.000 pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A4 HGNC ENSG00000139370 52 0 0 51 10 16.3934 FZD10 0 genome.wustl.edu 37 12 130648416 130648416 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 12 130648416 130648416 C T SNP FZD10 ENST00000229030 human ensembl 74_37 +1 known missense c.929 p.T310M 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD10 HGNC ENSG00000111432 134 0 0 46 24 34.2857 DCP1B 0 genome.wustl.edu 37 12 2102462 2102462 + Missense_Mutation SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 12 2102462 2102462 T C SNP DCP1B ENST00000280665 human ensembl 74_37 -1 known missense c.287 p.Q96R 1.000 pfam_DCP1 pfam_DCP1 - no_errors DCP1B HGNC ENSG00000151065 85 0 0 40 36 47.3684 C12orf39 0 genome.wustl.edu 37 12 21679829 21679829 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 12 21679829 21679829 A C SNP C12orf39 ENST00000256969 human ensembl 74_37 +1 known missense c.16 p.S6R 0.000 NULL NULL - no_errors C12orf39 HGNC ENSG00000134548 51 0 0 44 23 34.3284 PDZRN4 0 genome.wustl.edu 37 12 41831777 41831777 + Nonsense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 12 41831777 41831777 A T SNP PDZRN4 ENST00000539469 human ensembl 74_37 +1 known nonsense c.31 p.R11* 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZRN4 HGNC ENSG00000165966 116 0 0 101 47 31.7568 PLEKHA8P1 0 genome.wustl.edu 37 12 45567563 45567563 + RNA SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 12 45567563 45567563 A C SNP PLEKHA8P1 ENST00000256692 human ensembl 74_37 -1 known rna NULL NULL 0.972 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 124 0 0 95 63 39.8734 MAP3K12 0 genome.wustl.edu 37 12 53876660 53876660 + Missense_Mutation SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 12 53876660 53876660 A G SNP MAP3K12 ENST00000267079 human ensembl 74_37 -1 known missense c.1828 p.S610P 0.988 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K12 HGNC ENSG00000139625 109 0 0 60 14 18.9189 ATP5B 0 genome.wustl.edu 37 12 57037207 57037207 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 12 57037207 57037207 A C SNP ATP5B ENST00000262030 human ensembl 74_37 -1 known missense c.772 p.L258V 1.000 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_ATPase_F1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,smart_AAA+_ATPase,tigrfam_ATPase_F1-cplx_bsu - no_errors ATP5B HGNC ENSG00000110955 79 0 0 64 9 12.3288 RDH16 0 genome.wustl.edu 37 12 57351064 57351064 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 12 57351064 57351064 C T SNP RDH16 ENST00000398138 human ensembl 74_37 -1 known silent c.183 p.L61 1.000 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH16 HGNC ENSG00000139547 133 0 0 219 196 47.2289 KIF5A 0 genome.wustl.edu 37 12 57972098 57972098 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 12 57972098 57972098 G A SNP KIF5A ENST00000455537 human ensembl 74_37 +1 known silent c.2511 p.L837 1.000 superfamily_Prefoldin pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 96 0 0 783 145 15.625 TSFM 0 genome.wustl.edu 37 12 58180066 58180066 + Silent SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 12 58180066 58180066 T C SNP TSFM ENST00000323833 human ensembl 74_37 +1 known silent c.352 p.L118 0.951 pfam_Transl_elong_EFTs/EF1B_dimer,superfamily_Transl_elong_EFTs/EF1B_dimer pfam_Transl_elong_EFTs/EF1B_dimer,pfam_UBA/Ts_N,superfamily_Transl_elong_EFTs/EF1B_dimer,superfamily_UBA-like - no_errors TSFM HGNC ENSG00000123297 13 0 0 87 5 5.43478 EFNB2 0 genome.wustl.edu 37 13 107145778 107145778 + Splice_Site SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 13 107145778 107145778 T C SNP EFNB2 ENST00000245323 human ensembl 74_37 -1 known splice_site c.614-2 e5-2 1.000 - - - no_errors EFNB2 HGNC ENSG00000125266 93 0 0 71 4 5.33333 TNFRSF19 0 genome.wustl.edu 37 13 24243121 24243121 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 13 24243121 24243121 G T SNP TNFRSF19 ENST00000382258 human ensembl 74_37 +1 known missense c.1130 p.R377I 0.000 NULL smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19 - no_errors TNFRSF19 HGNC ENSG00000127863 74 0 0 81 16 16.4948 BRCA2 0 genome.wustl.edu 37 13 32914844 32914844 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 13 32914844 32914844 G T SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.6352 p.V2118L 0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 33 0 0 40 5 11.1111 TRPC4 0 genome.wustl.edu 37 13 38229240 38229240 + Silent SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 13 38229240 38229240 A T SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known silent c.1869 p.S623 0.990 prints_TRPC_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 12 0 0 16 11 40.7407 RB1 0 genome.wustl.edu 37 13 49039378 49039378 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 13 49039378 49039378 G A SNP RB1 ENST00000267163 human ensembl 74_37 +1 known missense c.2363 p.S788N 1.000 pfam_RB_C pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 107 0 0 84 49 36.8421 TRIM13 0 genome.wustl.edu 37 13 50586183 50586183 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 13 50586183 50586183 G C SNP TRIM13 ENST00000298772 human ensembl 74_37 +1 known missense c.116 p.G39A 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM13 HGNC ENSG00000204977 50 0 0 29 37 56.0606 CDC42BPB 0 genome.wustl.edu 37 14 103447159 103447159 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 14 103447159 103447159 G A SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known missense c.1091 p.P364L 1.000 pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 98 0 0 19 27 58.6957 AHNAK2 0 genome.wustl.edu 37 14 105421322 105421322 + Missense_Mutation SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 14 105421322 105421322 T C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.623 p.Q208R 0.014 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 52 0 0 6 19 76 OR11H4 0 genome.wustl.edu 37 14 20711736 20711736 + Nonsense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 14 20711736 20711736 T G SNP OR11H4 ENST00000315409 human ensembl 74_37 +1 known nonsense c.786 p.Y262* 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H4 HGNC ENSG00000176198 152 0 0 132 81 38.0282 NYNRIN 0 genome.wustl.edu 37 14 24879194 24879194 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 14 24879194 24879194 G C SNP NYNRIN ENST00000382554 human ensembl 74_37 +1 known missense c.2194 p.A732P 0.000 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 38 0 0 17 20 54.0541 GZMH 0 genome.wustl.edu 37 14 25075923 25075923 + Missense_Mutation SNP C C G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 14 25075923 25075923 C G SNP GZMH ENST00000216338 human ensembl 74_37 -1 known missense c.627 p.K209N 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMH HGNC ENSG00000100450 77 0 0 106 8 7.01754 MDGA2 0 genome.wustl.edu 37 14 47426781 47426781 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 14 47426781 47426781 T G SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.1885 p.S629R 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 65 0 0 34 25 42.3729 NAA30 0 genome.wustl.edu 37 14 57858422 57858422 + Missense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 14 57858422 57858422 C A SNP NAA30 ENST00000556492 human ensembl 74_37 +1 known missense c.747 p.H249Q 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA30 HGNC ENSG00000139977 225 0 0 192 39 16.8831 ZBTB1 0 genome.wustl.edu 37 14 64989463 64989463 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 14 64989463 64989463 T G SNP ZBTB1 ENST00000394712 human ensembl 74_37 +1 known missense c.1241 p.V414G 0.002 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB1 HGNC ENSG00000126804 39 0 0 36 9 20 RBM25 0 genome.wustl.edu 37 14 73577559 73577559 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 14 73577559 73577559 G A SNP RBM25 ENST00000261973 human ensembl 74_37 +1 known silent c.1713 p.R571 0.999 NULL pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 29 0 0 17 11 39.2857 SERPINA12 0 genome.wustl.edu 37 14 94964633 94964633 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 14 94964633 94964633 G A SNP SERPINA12 ENST00000341228 human ensembl 74_37 -1 known silent c.102 p.S34 0.000 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA12 HGNC ENSG00000165953 150 0 0 36 60 62.5 SNORD116-27 0 genome.wustl.edu 37 15 25346808 25346808 + RNA SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 15 25346808 25346808 A C SNP SNORD116-27 ENST00000516087 human ensembl 74_37 +1 known rna NULL NULL 0.111 - - - no_errors SNORD116-27 HGNC ENSG00000251896 27 0 0 6 21 77.7778 SNORD115-40 0 genome.wustl.edu 37 15 25488841 25488841 + RNA SNP C C G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 15 25488841 25488841 C G SNP SNORD115-40 ENST00000606510 human ensembl 74_37 +1 known rna NULL NULL 0.987 - - - no_errors SNORD115-40 HGNC ENSG00000272460 430 0 0 110 96 46.6019 ATP10A 0 genome.wustl.edu 37 15 25924926 25924926 + Silent SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 15 25924926 25924926 A G SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known silent c.4062 p.S1354 0.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,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 ATP10A HGNC ENSG00000206190 145 0 0 54 42 43.75 DUOX2 0 genome.wustl.edu 37 15 45400358 45400358 + Silent SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 15 45400358 45400358 G T SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known silent c.1461 p.G487 0.996 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 127 0 0 35 35 50 DUOXA2 0 genome.wustl.edu 37 15 45408922 45408922 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 15 45408922 45408922 G A SNP DUOXA2 ENST00000323030 human ensembl 74_37 +1 known silent c.549 p.T183 0.048 pfam_Dual_oxidase_maturation_fac pfam_Dual_oxidase_maturation_fac - no_errors DUOXA2 HGNC ENSG00000140274 37 0 0 35 8 18.6047 FAM214A 0 genome.wustl.edu 37 15 52902400 52902400 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 15 52902400 52902400 C T SNP FAM214A ENST00000261844 human ensembl 74_37 -1 known silent c.711 p.E237 1.000 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 46 0 0 40 3 6.97674 IGDCC4 0 genome.wustl.edu 37 15 65688265 65688265 + Missense_Mutation SNP C C G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 15 65688265 65688265 C G SNP IGDCC4 ENST00000352385 human ensembl 74_37 -1 novel missense c.1234 p.G412R 1.000 pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC4 HGNC ENSG00000103742 15 0 0 10 4 28.5714 CHRNB4 0 genome.wustl.edu 37 15 78917462 78917462 + Silent SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 15 78917462 78917462 A G SNP CHRNB4 ENST00000412074 human ensembl 74_37 -1 putative silent c.531 p.G177 0.000 NULL pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNB4 HGNC ENSG00000117971 148 0 0 62 27 30.3371 KIAA1024 0 genome.wustl.edu 37 15 79750473 79750473 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 15 79750473 79750473 C T SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known missense c.1984 p.R662W 0.036 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 210 0 0 139 41 22.7778 AGBL1 0 genome.wustl.edu 37 15 86791088 86791088 + Missense_Mutation SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 15 86791088 86791088 A G SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.575 p.E192G 1.000 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 108 0 0 40 17 29.8246 TAOK2 0 genome.wustl.edu 37 16 29994606 29994606 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 16 29994606 29994606 G C SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known missense c.1213 p.G405R 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK2 HGNC ENSG00000149930 70 0 0 37 10 21.2766 ITFG3 0 genome.wustl.edu 37 16 304607 304607 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 16 304607 304607 C T SNP ITFG3 ENST00000301678 human ensembl 74_37 +1 known silent c.195 p.V65 0.419 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam - no_errors ITFG3 HGNC ENSG00000167930 431 0 0 141 91 39.2241 ORC6 0 genome.wustl.edu 37 16 46727073 46727073 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 16 46727073 46727073 C T SNP ORC6 ENST00000219097 human ensembl 74_37 +1 known missense c.428 p.A143V 1.000 NULL pfam_ORC6 - no_errors ORC6 HGNC ENSG00000091651 49 0 0 41 10 19.6078 DNAJA2 0 genome.wustl.edu 37 16 46991100 46991100 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 16 46991100 46991100 T G SNP DNAJA2 ENST00000317089 human ensembl 74_37 -1 known missense c.1080 p.E360D 0.991 NULL pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA2 HGNC ENSG00000069345 197 0 0 227 44 16.2362 CES1 0 genome.wustl.edu 37 16 55862829 55862829 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 16 55862829 55862829 T G SNP CES1 ENST00000360526 human ensembl 74_37 -1 known missense c.110 p.K37T 0.272 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 58 0 0 40 4 9.09091 RANBP10 0 genome.wustl.edu 37 16 67762463 67762463 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 16 67762463 67762463 G A SNP RANBP10 ENST00000411657 human ensembl 74_37 -1 known missense c.1043 p.A348V 0.006 NULL pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC ENSG00000141084 51 0 0 29 9 23.6842 DPEP3 0 genome.wustl.edu 37 16 68014254 68014254 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 16 68014254 68014254 G A SNP DPEP3 ENST00000268793 human ensembl 74_37 -1 known silent c.105 p.R35 0.000 NULL pfam_Peptidase_M19 - no_errors DPEP3 HGNC ENSG00000141096 9 0 0 3 2 40 ZFHX3 0 genome.wustl.edu 37 16 72994020 72994020 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 16 72994020 72994020 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.25 p.V9I 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 141 0 0 70 28 28.5714 SPATA33 0 genome.wustl.edu 37 16 89735830 89735830 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 16 89735830 89735830 G A SNP SPATA33 ENST00000579310 human ensembl 74_37 +1 known silent c.348 p.P116 0.000 NULL NULL - no_errors SPATA33 HGNC ENSG00000167523 124 0 0 62 22 26.1905 MYH8 0 genome.wustl.edu 37 17 10315972 10315972 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 17 10315972 10315972 G A SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known silent c.1221 p.V407 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 273 0 0 141 86 37.8855 KRT27 0 genome.wustl.edu 37 17 38938425 38938425 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 17 38938425 38938425 C T SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known silent c.321 p.E107 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 139 0 0 29 88 75.2137 GEMIN4 0 genome.wustl.edu 37 17 649624 649624 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 17 649624 649624 G A SNP GEMIN4 ENST00000319004 human ensembl 74_37 -1 known silent c.1659 p.V553 0.000 NULL NULL - no_errors GEMIN4 HGNC ENSG00000179409 79 0 0 47 8 14.5455 KIAA0753 0 genome.wustl.edu 37 17 6499612 6499612 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 17 6499612 6499612 A C SNP KIAA0753 ENST00000361413 human ensembl 74_37 -1 known missense c.2224 p.L742V 0.904 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 78 0 0 45 16 26.2295 TP53 0 genome.wustl.edu 37 17 7577124 7577124 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 17 7577124 7577124 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.814 p.V272M 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 41 0 0 8 22 73.3333 DNAH17 0 genome.wustl.edu 37 17 76533475 76533475 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 17 76533475 76533475 C T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.2765 p.R922H 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 34 0 0 15 11 42.3077 CXADRP3 0 genome.wustl.edu 37 18 14478283 14478283 + RNA SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 18 14478283 14478283 G A SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors CXADRP3 HGNC ENSG00000265766 35 0 0 25 9 26.4706 CCDC178 0 genome.wustl.edu 37 18 30672862 30672862 + Missense_Mutation SNP C C G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 18 30672862 30672862 C G SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.2251 p.D751H 0.001 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 19 0 0 15 5 25 EPB41L3 0 genome.wustl.edu 37 18 5419826 5419826 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 18 5419826 5419826 A C SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.1390 p.L464V 1.000 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 97 0 0 36 25 40.9836 EPB41L3 0 genome.wustl.edu 37 18 5630671 5630671 + RNA SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 18 5630671 5630671 G A SNP EPB41L3 ENST00000578431 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors EPB41L3 HGNC ENSG00000082397 9 0 0 5 8 61.5385 SERPINB3 0 genome.wustl.edu 37 18 61323110 61323110 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 18 61323110 61323110 G A SNP SERPINB3 ENST00000283752 human ensembl 74_37 -1 known silent c.954 p.T318 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB3 HGNC ENSG00000057149 145 0 0 73 16 17.9775 RPL6P27 0 genome.wustl.edu 37 18 6462238 6462238 + RNA SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 18 6462238 6462238 A C SNP RPL6P27 ENST00000583065 human ensembl 74_37 -1 known rna NULL NULL 0.654 - - - no_errors RPL6P27 HGNC ENSG00000235552 16 0 0 7 7 50 DSEL 0 genome.wustl.edu 37 18 65180418 65180418 + Silent SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 18 65180418 65180418 A C SNP DSEL ENST00000310045 human ensembl 74_37 -1 known silent c.1458 p.T486 0.893 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 78 0 0 16 13 44.8276 ATG4D 0 genome.wustl.edu 37 19 10657622 10657622 + Nonsense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 19 10657622 10657622 C T SNP ATG4D ENST00000309469 human ensembl 74_37 +1 known nonsense c.601 p.Q201* 1.000 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4D HGNC ENSG00000130734 36 0 0 12 23 65.7143 QTRT1 0 genome.wustl.edu 37 19 10812361 10812361 + Nonsense_Mutation SNP C C G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 19 10812361 10812361 C G SNP QTRT1 ENST00000250237 human ensembl 74_37 +1 known nonsense c.225 p.Y75* 1.000 superfamily_tRNA_ribo_trans-like,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans-like pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans-like - no_errors QTRT1 HGNC ENSG00000213339 17 0 0 4 3 42.8571 NWD1 0 genome.wustl.edu 37 19 16918918 16918918 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 19 16918918 16918918 C T SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.4258 p.R1420C 0.076 pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 130 0 0 78 14 15.2174 PIK3R2 0 genome.wustl.edu 37 19 18280081 18280081 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 19 18280081 18280081 G A SNP PIK3R2 ENST00000222254 human ensembl 74_37 +1 known missense c.2164 p.G722S 0.957 NULL pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC ENSG00000105647 8 0 0 4 5 55.5556 ZNF536 0 genome.wustl.edu 37 19 30935611 30935611 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 19 30935611 30935611 G A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.1142 p.R381H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 159 0 0 114 51 30.9091 LGI4 0 genome.wustl.edu 37 19 35616357 35616357 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 19 35616357 35616357 C T SNP LGI4 ENST00000310123 human ensembl 74_37 -1 known missense c.1354 p.G452S 0.990 pfam_EPTP pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI4 HGNC ENSG00000153902 25 0 0 18 6 25 FCGBP 0 genome.wustl.edu 37 19 40370471 40370471 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 19 40370471 40370471 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.12195 p.G4065 0.017 smart_Fol_N,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 15 0 0 12 6 33.3333 CEACAM1 0 genome.wustl.edu 37 19 43026105 43026105 + Missense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 19 43026105 43026105 C A SNP CEACAM1 ENST00000161559 human ensembl 74_37 -1 known missense c.674 p.R225L 0.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM1 HGNC ENSG00000079385 240 0 0 170 62 26.7241 LIG1 0 genome.wustl.edu 37 19 48660279 48660279 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 19 48660279 48660279 C T SNP LIG1 ENST00000263274 human ensembl 74_37 -1 known missense c.362 p.R121H 0.974 NULL pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 149 0 0 128 24 15.7895 PLEKHA4 0 genome.wustl.edu 37 19 49364712 49364712 + Nonsense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 19 49364712 49364712 G T SNP PLEKHA4 ENST00000263265 human ensembl 74_37 -1 known nonsense c.312 p.Y104* 0.993 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 83 0 0 42 41 49.3976 ZNF473 0 genome.wustl.edu 37 19 50549550 50549550 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 19 50549550 50549550 G A SNP ZNF473 ENST00000270617 human ensembl 74_37 +1 known missense c.1850 p.R617K 0.029 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 ZNF473 HGNC ENSG00000142528 46 0 0 50 11 18.0328 TNFSF14 0 genome.wustl.edu 37 19 6665138 6665138 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 19 6665138 6665138 G A SNP TNFSF14 ENST00000599359 human ensembl 74_37 -1 known silent c.522 p.P174 0.017 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF - no_errors TNFSF14 HGNC ENSG00000125735 96 0 0 46 37 44.5783 ARHGEF18 0 genome.wustl.edu 37 19 7505323 7505323 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 19 7505323 7505323 G T SNP ARHGEF18 ENST00000359920 human ensembl 74_37 +1 known missense c.497 p.G166V 0.885 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 87 0 0 11 24 68.5714 RPL23AP7 0 genome.wustl.edu 37 2 114369623 114369623 + RNA SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 114369623 114369623 C T SNP RPL23AP7 ENST00000391616 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL23AP7 HGNC ENSG00000240356 89 0 0 62 9 12.6761 CNTNAP5 0 genome.wustl.edu 37 2 125405518 125405518 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 125405518 125405518 G A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.2057 p.R686H 1.000 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 21 0 0 6 4 40 GYPC 0 genome.wustl.edu 37 2 127451461 127451461 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 127451461 127451461 G T SNP GYPC ENST00000259254 human ensembl 74_37 +1 known missense c.128 p.G43V 0.003 NULL smart_Neurexin-like - no_errors GYPC HGNC ENSG00000136732 114 0 0 75 26 25.7426 NCKAP5 0 genome.wustl.edu 37 2 133539527 133539527 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 133539527 133539527 C T SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known silent c.4857 p.T1619 0.429 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 41 0 0 45 33 42.3077 NCKAP5 0 genome.wustl.edu 37 2 133541938 133541938 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 133541938 133541938 G A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known silent c.2446 p.L816 0.012 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 164 0 0 192 32 14.2857 ZRANB3 0 genome.wustl.edu 37 2 136261984 136261984 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 136261984 136261984 G A SNP ZRANB3 ENST00000264159 human ensembl 74_37 -1 known silent c.76 p.L26 0.997 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 34 0 0 30 12 28.5714 LRP1B 0 genome.wustl.edu 37 2 141214085 141214085 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 141214085 141214085 G T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.9902 p.P3301H 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 60 0 0 65 11 14.4737 LRP1B 0 genome.wustl.edu 37 2 141598520 141598520 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 141598520 141598520 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.5081 p.K1694T 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 50 0 0 52 18 25.7143 LRP1B 0 genome.wustl.edu 37 2 141806634 141806634 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 141806634 141806634 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.1710 p.I570 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 103 0 0 132 31 19.0184 TPO 0 genome.wustl.edu 37 2 1488374 1488374 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 1488374 1488374 A T SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.1345 p.T449S 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 70 0 0 31 14 31.1111 MBD5 0 genome.wustl.edu 37 2 149267699 149267699 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 149267699 149267699 G T SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known missense c.4408 p.G1470W 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 18 0 0 34 6 15 FAP 0 genome.wustl.edu 37 2 163055300 163055300 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 163055300 163055300 C T SNP FAP ENST00000188790 human ensembl 74_37 -1 known missense c.1369 p.D457N 0.982 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 56 0 0 44 11 20 SCN2A 0 genome.wustl.edu 37 2 166179886 166179886 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 166179886 166179886 C T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.1892 p.A631V 0.999 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 56 0 0 37 18 32.7273 TTN 0 genome.wustl.edu 37 2 179413258 179413258 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 179413258 179413258 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.85391 p.S28464Y 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 167 0 0 198 85 30.0353 TTN 0 genome.wustl.edu 37 2 179468710 179468710 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 179468710 179468710 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.47000 p.R15667H 0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 177 0 0 145 99 40.5738 ZNF804A 0 genome.wustl.edu 37 2 185803671 185803671 + Missense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 185803671 185803671 C A SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.3548 p.A1183D 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 169 0 0 155 69 30.8036 DNAH7 0 genome.wustl.edu 37 2 196699053 196699053 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 196699053 196699053 G T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.8977 p.P2993T 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 43 0 0 53 10 15.873 ENSG00000235118 0 genome.wustl.edu 37 2 207509343 207509343 + RNA SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 207509343 207509343 C T SNP ENSG00000235118 ENST00000441223 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC010731.4 Clone_based_vega_gene ENSG00000235118 16 0 0 15 9 37.5 ZNF142 0 genome.wustl.edu 37 2 219509337 219509337 + Silent SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 219509337 219509337 T G SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known silent c.1902 p.S634 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 85 0 0 31 24 43.6364 SPEG 0 genome.wustl.edu 37 2 220349010 220349010 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 220349010 220349010 C T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel silent c.6825 p.H2275 0.850 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 27 0 0 15 8 34.7826 FAM124B 0 genome.wustl.edu 37 2 225266120 225266120 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 225266120 225266120 C T SNP FAM124B ENST00000409685 human ensembl 74_37 -1 known silent c.366 p.Q122 0.992 NULL NULL - no_errors FAM124B HGNC ENSG00000124019 76 0 0 30 18 37.5 CAPN10 0 genome.wustl.edu 37 2 241534098 241534098 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 241534098 241534098 G C SNP CAPN10 ENST00000391984 human ensembl 74_37 +1 known missense c.969 p.E323D 0.729 smart_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN10 HGNC ENSG00000142330 117 0 0 71 12 14.4578 CDKL4 0 genome.wustl.edu 37 2 39417521 39417521 + Missense_Mutation SNP C C G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 39417521 39417521 C G SNP CDKL4 ENST00000378803 human ensembl 74_37 -1 known missense c.577 p.E193Q 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDKL4 HGNC ENSG00000205111 91 0 0 83 13 13.5417 LRPPRC 0 genome.wustl.edu 37 2 44171034 44171034 + Splice_Site SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 44171034 44171034 C T SNP LRPPRC ENST00000260665 human ensembl 74_37 -1 known splice_site c.2297-1 e23-1 1.000 - - - no_errors LRPPRC HGNC ENSG00000138095 25 0 0 24 3 11.1111 NRXN1 0 genome.wustl.edu 37 2 50765687 50765687 + Missense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 50765687 50765687 C A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.1823 p.G608V 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 123 0 0 56 66 54.0984 ALMS1P 0 genome.wustl.edu 37 2 73900073 73900073 + RNA SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 73900073 73900073 C T SNP ALMS1P ENST00000450720 human ensembl 74_37 +1 known rna NULL NULL 0.993 - - - no_errors ALMS1P HGNC ENSG00000163016 15 0 0 18 5 21.7391 ZNF2 0 genome.wustl.edu 37 2 95847715 95847715 + Missense_Mutation SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 95847715 95847715 A G SNP ZNF2 ENST00000340539 human ensembl 74_37 +1 known missense c.1142 p.Q381R 0.913 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 ZNF2 HGNC ENSG00000163067 139 0 0 140 23 14.1104 VWA3B 0 genome.wustl.edu 37 2 98797648 98797648 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 98797648 98797648 G A SNP VWA3B ENST00000477737 human ensembl 74_37 +1 known silent c.1284 p.P428 0.005 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 103 0 0 56 9 13.8462 XKR7 0 genome.wustl.edu 37 20 30584798 30584798 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 20 30584798 30584798 G A SNP XKR7 ENST00000562532 human ensembl 74_37 +1 known silent c.1278 p.A426 0.105 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000260903 117 0 0 104 52 33.3333 MYH7B 0 genome.wustl.edu 37 20 33584184 33584184 + Missense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 20 33584184 33584184 C A SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.3105 p.D1035E 0.990 superfamily_tRNA-bd_arm pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 25 0 0 21 6 22.2222 SAMHD1 0 genome.wustl.edu 37 20 35521394 35521394 + Missense_Mutation SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 20 35521394 35521394 T C SNP SAMHD1 ENST00000262878 human ensembl 74_37 -1 known missense c.1822 p.T608A 0.000 NULL pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM - no_errors SAMHD1 HGNC ENSG00000101347 77 0 0 109 68 38.4181 RBL1 0 genome.wustl.edu 37 20 35663900 35663900 + Silent SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 20 35663900 35663900 A G SNP RBL1 ENST00000373664 human ensembl 74_37 -1 known silent c.1915 p.L639 1.000 NULL pfam_RB_A,pfam_RB_B,pfam_RB_N,pfam_RB_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 17 0 0 37 4 9.7561 AURKA 0 genome.wustl.edu 37 20 54948571 54948571 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 20 54948571 54948571 C T SNP AURKA ENST00000312783 human ensembl 74_37 -1 known silent c.747 p.S249 0.351 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AURKA HGNC ENSG00000087586 44 0 0 73 26 26.2626 TFAP2C 0 genome.wustl.edu 37 20 55212788 55212788 + Missense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 20 55212788 55212788 C A SNP TFAP2C ENST00000201031 human ensembl 74_37 +1 known missense c.1072 p.L358M 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma - no_errors TFAP2C HGNC ENSG00000087510 76 0 0 84 17 16.8317 BMS1P20 0 genome.wustl.edu 37 22 22664639 22664639 + RNA SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 22 22664639 22664639 G A SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BMS1P20 HGNC ENSG00000236850 52 0 0 36 3 7.69231 SEPT3 0 genome.wustl.edu 37 22 42390313 42390313 + Nonsense_Mutation SNP T T A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 22 42390313 42390313 T A SNP SEPT3 ENST00000396426 human ensembl 74_37 +1 known nonsense c.885 p.C295* 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin3 - no_errors SEPT3 HGNC ENSG00000100167 39 0 0 29 6 17.1429 IMPG2 0 genome.wustl.edu 37 3 100963573 100963573 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 3 100963573 100963573 A C SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.1602 p.S534R 0.008 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 59 0 0 22 29 56.8627 EPHB1 0 genome.wustl.edu 37 3 134967238 134967238 + Missense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 3 134967238 134967238 C A SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.2577 p.D859E 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 130 0 0 108 11 9.2437 TRPC1 0 genome.wustl.edu 37 3 142524916 142524916 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 3 142524916 142524916 C T SNP TRPC1 ENST00000476941 human ensembl 74_37 +1 known missense c.2221 p.R741C 1.000 prints_TRPC1_channel,tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 34 0 0 80 18 18.3673 U2SURP 0 genome.wustl.edu 37 3 142769862 142769862 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 3 142769862 142769862 G C SNP U2SURP ENST00000473835 human ensembl 74_37 +1 known missense c.2626 p.E876Q 1.000 NULL pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_CID_dom,pfscan_Surp,pfscan_RRM_dom - no_errors U2SURP HGNC ENSG00000163714 11 0 0 11 10 47.619 FGD5 0 genome.wustl.edu 37 3 14964574 14964574 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 3 14964574 14964574 C T SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known missense c.3829 p.R1277W 0.003 pfam_Znf_FYVE,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 105 0 0 37 36 49.3151 P2RY13 0 genome.wustl.edu 37 3 151046713 151046713 + Missense_Mutation SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 3 151046713 151046713 T C SNP P2RY13 ENST00000325602 human ensembl 74_37 -1 known missense c.131 p.Q44R 0.603 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y13_rcpt,prints_GPCR_Rhodpsn,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY13 HGNC ENSG00000181631 106 0 0 177 21 10.6061 BCHE 0 genome.wustl.edu 37 3 165504095 165504095 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 3 165504095 165504095 G T SNP BCHE ENST00000264381 human ensembl 74_37 -1 known missense c.1522 p.P508T 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 21 0 0 27 8 22.8571 MECOM 0 genome.wustl.edu 37 3 168807858 168807858 + Nonsense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 3 168807858 168807858 C A SNP MECOM ENST00000494292 human ensembl 74_37 -1 known nonsense c.3304 p.E1102* 0.999 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 89 0 0 170 18 9.57447 IGF2BP2 0 genome.wustl.edu 37 3 185393611 185393611 + Silent SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 3 185393611 185393611 T C SNP IGF2BP2 ENST00000382199 human ensembl 74_37 -1 known silent c.903 p.E301 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP2 HGNC ENSG00000073792 81 0 0 143 21 12.8049 KAT2B 0 genome.wustl.edu 37 3 20141402 20141402 + Missense_Mutation SNP T T A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 3 20141402 20141402 T A SNP KAT2B ENST00000263754 human ensembl 74_37 +1 known missense c.625 p.S209T 1.000 pirsf_Hist_acetylase_PCAF,pfam_PCAF_N pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2B HGNC ENSG00000114166 27 0 0 16 21 56.7568 ZNF385D 0 genome.wustl.edu 37 3 21462840 21462840 + Missense_Mutation SNP T T A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 3 21462840 21462840 T A SNP ZNF385D ENST00000281523 human ensembl 74_37 -1 known missense c.1054 p.S352C 0.157 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 30 0 0 27 9 25 ZCWPW2 0 genome.wustl.edu 37 3 28566142 28566142 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 3 28566142 28566142 A C SNP ZCWPW2 ENST00000383768 human ensembl 74_37 +1 known missense c.1034 p.K345T 0.943 NULL pfam_Znf_CW,pfam_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW - no_errors ZCWPW2 HGNC ENSG00000206559 32 0 0 30 13 30.2326 TRAK1 0 genome.wustl.edu 37 3 42265201 42265201 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 3 42265201 42265201 A C SNP TRAK1 ENST00000396175 human ensembl 74_37 +1 known missense c.2660 p.K887T 1.000 NULL pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 75 0 0 48 17 26.1538 DNAH1 0 genome.wustl.edu 37 3 52412796 52412796 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 3 52412796 52412796 G A SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known silent c.7377 p.E2459 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 187 0 0 54 69 56.0976 DNASE1L3 0 genome.wustl.edu 37 3 58183574 58183574 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 3 58183574 58183574 C T SNP DNASE1L3 ENST00000318316 human ensembl 74_37 -1 known silent c.678 p.K226 0.770 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I - no_errors DNASE1L3 HGNC ENSG00000163687 114 0 0 48 16 25 EPHA3 0 genome.wustl.edu 37 3 89259476 89259476 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 3 89259476 89259476 A T SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.620 p.K207M 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 104 0 0 140 79 36.0731 EPHA6 0 genome.wustl.edu 37 3 96962916 96962916 + Missense_Mutation SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 3 96962916 96962916 A G SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.1391 p.K464R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Fibronectin_type3,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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 35 0 0 39 9 18.75 ALPK1 0 genome.wustl.edu 37 4 113352097 113352097 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 4 113352097 113352097 C T SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known missense c.1394 p.S465L 0.820 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 33 0 0 32 10 23.8095 ANK2 0 genome.wustl.edu 37 4 114277998 114277998 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 4 114277998 114277998 C T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.8224 p.H2742Y 0.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 60 0 0 31 20 39.2157 PCDH18 0 genome.wustl.edu 37 4 138442387 138442387 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 4 138442387 138442387 G T SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.3204 p.N1068K 0.002 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 65 0 0 16 27 62.7907 TRIML2 0 genome.wustl.edu 37 4 189026046 189026046 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 4 189026046 189026046 A C SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.80 p.L27R 0.717 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 64 0 0 67 9 11.8421 GPR125 0 genome.wustl.edu 37 4 22425827 22425827 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 4 22425827 22425827 T G SNP GPR125 ENST00000334304 human ensembl 74_37 -1 known missense c.1592 p.H531P 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 63 0 0 28 12 30 SEL1L3 0 genome.wustl.edu 37 4 25823632 25823632 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 4 25823632 25823632 G T SNP SEL1L3 ENST00000399878 human ensembl 74_37 -1 known missense c.1276 p.L426M 0.924 superfamily_ConA-like_lec_gl_sf pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 32 0 0 24 3 11.1111 LIMCH1 0 genome.wustl.edu 37 4 41691639 41691639 + Missense_Mutation SNP T T A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 4 41691639 41691639 T A SNP LIMCH1 ENST00000503057 human ensembl 74_37 +1 known missense c.4262 p.I1421N 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 51 0 0 30 6 16.6667 GABRG1 0 genome.wustl.edu 37 4 46053588 46053588 + Silent SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 4 46053588 46053588 A C SNP GABRG1 ENST00000295452 human ensembl 74_37 -1 known silent c.984 p.S328 0.659 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 33 0 0 17 7 29.1667 STK32B 0 genome.wustl.edu 37 4 5469777 5469777 + Missense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 4 5469777 5469777 C A SNP STK32B ENST00000282908 human ensembl 74_37 +1 known missense c.1086 p.F362L 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK32B HGNC ENSG00000152953 119 0 0 61 19 23.75 EVC2 0 genome.wustl.edu 37 4 5617239 5617239 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 4 5617239 5617239 C T SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known silent c.2739 p.K913 0.987 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 153 0 0 81 23 22.1154 TECRL 0 genome.wustl.edu 37 4 65275046 65275046 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 4 65275046 65275046 G A SNP TECRL ENST00000381210 human ensembl 74_37 -1 known silent c.24 p.L8 0.990 NULL pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 76 0 0 18 25 58.1395 UGT2B10 0 genome.wustl.edu 37 4 69696547 69696547 + Missense_Mutation SNP T T A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 4 69696547 69696547 T A SNP UGT2B10 ENST00000265403 human ensembl 74_37 +1 known missense c.1537 p.F513I 0.036 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B10 HGNC ENSG00000109181 110 0 0 42 51 54.8387 SHROOM3 0 genome.wustl.edu 37 4 77662015 77662015 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 4 77662015 77662015 G A SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.2689 p.E897K 0.000 pfam_ASD1 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 27 0 0 6 5 45.4545 PDHA2 0 genome.wustl.edu 37 4 96761768 96761768 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 4 96761768 96761768 A C SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known missense c.467 p.K156T 0.005 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 114 0 0 57 12 17.3913 MARCH6 0 genome.wustl.edu 37 5 10377976 10377976 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 5 10377976 10377976 C T SNP MARCH6 ENST00000274140 human ensembl 74_37 +1 known missense c.86 p.T29I 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 24 0 0 77 13 14.4444 ADAMTS19 0 genome.wustl.edu 37 5 128796134 128796134 + Missense_Mutation SNP T T A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 5 128796134 128796134 T A SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.32 p.L11H 1.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 108 0 0 42 17 28.8136 ADAMTS19 0 genome.wustl.edu 37 5 128984615 128984615 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 5 128984615 128984615 A C SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.2110 p.T704P 1.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 110 0 0 70 7 9.09091 DNAH5 0 genome.wustl.edu 37 5 13762852 13762852 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 5 13762852 13762852 G C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.10260 p.N3420K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 62 0 0 76 17 18.2796 PCDHB4 0 genome.wustl.edu 37 5 140503131 140503131 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 5 140503131 140503131 G A SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known silent c.1551 p.S517 0.036 pfam_Cadherin,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 PCDHB4 HGNC ENSG00000081818 229 0 0 102 65 38.9222 PCDHB8 0 genome.wustl.edu 37 5 140559571 140559571 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 5 140559571 140559571 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known silent c.1956 p.P652 0.979 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 106 0 0 28 56 66.6667 PCDHGA12 0 genome.wustl.edu 37 5 140812214 140812214 + Nonsense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 5 140812214 140812214 C T SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known nonsense c.1888 p.R630* 0.409 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 156 0 0 25 90 78.2609 CDH12 0 genome.wustl.edu 37 5 21842417 21842417 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 5 21842417 21842417 G T SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.667 p.P223T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 38 0 0 74 29 28.1553 CDH10 0 genome.wustl.edu 37 5 24498608 24498608 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 5 24498608 24498608 G A SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.1414 p.R472C 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 41 0 0 74 25 25.2525 UGT3A1 0 genome.wustl.edu 37 5 35957518 35957518 + Silent SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 5 35957518 35957518 A G SNP UGT3A1 ENST00000274278 human ensembl 74_37 -1 known silent c.847 p.L283 0.769 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC ENSG00000145626 22 0 0 36 28 43.75 PARP8 0 genome.wustl.edu 37 5 50120793 50120793 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 5 50120793 50120793 C T SNP PARP8 ENST00000281631 human ensembl 74_37 +1 known missense c.1912 p.H638Y 1.000 pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 32 0 0 25 8 24.2424 MAP1B 0 genome.wustl.edu 37 5 71492684 71492684 + Missense_Mutation SNP T T A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 5 71492684 71492684 T A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.3502 p.S1168T 0.018 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 41 0 0 10 16 61.5385 ZDHHC11 0 genome.wustl.edu 37 5 801265 801265 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 5 801265 801265 G C SNP ZDHHC11 ENST00000283441 human ensembl 74_37 -1 known missense c.1196 p.T399R 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11 HGNC ENSG00000188818 45 0 0 85 22 20.5607 ARHGAP18 0 genome.wustl.edu 37 6 129963162 129963162 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 6 129963162 129963162 G A SNP ARHGAP18 ENST00000368149 human ensembl 74_37 -1 known missense c.115 p.R39C 0.998 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP18 HGNC ENSG00000146376 54 0 0 58 21 26.5823 AKAP12 0 genome.wustl.edu 37 6 151671390 151671390 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 6 151671390 151671390 C T SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known missense c.1864 p.R622C 1.000 pfam_Pkinase-A_anch_WSK-motif pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 45 0 0 40 6 13.0435 LRRC16A 0 genome.wustl.edu 37 6 25554282 25554282 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 6 25554282 25554282 G A SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel silent c.2550 p.V850 0.995 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 9 0 0 7 3 30 EHMT2 0 genome.wustl.edu 37 6 31855588 31855588 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 6 31855588 31855588 C T SNP EHMT2 ENST00000395728 human ensembl 74_37 -1 known silent c.2067 p.L689 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 228 0 0 175 24 12.0603 COL11A2 0 genome.wustl.edu 37 6 33144777 33144777 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 6 33144777 33144777 C T SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.2062 p.G688R 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 31 0 0 14 16 53.3333 DAAM2 0 genome.wustl.edu 37 6 39869751 39869751 + Nonsense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 6 39869751 39869751 C T SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known nonsense c.3145 p.R1049* 1.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 80 0 0 44 20 31.25 KHDRBS2 0 genome.wustl.edu 37 6 62611269 62611269 + Missense_Mutation SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 6 62611269 62611269 T C SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.491 p.N164S 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 32 0 0 53 13 19.697 RREB1 0 genome.wustl.edu 37 6 7230602 7230602 + Missense_Mutation SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 6 7230602 7230602 T C SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.2270 p.L757P 0.611 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 87 0 0 48 11 18.6441 COL12A1 0 genome.wustl.edu 37 6 75804892 75804892 + Splice_Site SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 6 75804892 75804892 T C SNP COL12A1 ENST00000483888 human ensembl 74_37 -1 novel splice_site c.8571-2 e59-2 0.881 - - - no_errors COL12A1 HGNC ENSG00000111799 35 0 0 27 9 25 CUX1 0 genome.wustl.edu 37 7 101839972 101839972 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 7 101839972 101839972 G A SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known silent c.1314 p.P438 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 120 0 0 137 15 9.86842 RASA4 0 genome.wustl.edu 37 7 102246312 102246312 + Missense_Mutation SNP C C G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 7 102246312 102246312 C G SNP RASA4 ENST00000262940 human ensembl 74_37 -1 known missense c.421 p.E141Q 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,prints_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASA4 HGNC ENSG00000105808 18 0 0 19 9 32.1429 SLC35B4 0 genome.wustl.edu 37 7 133984324 133984324 + Silent SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 7 133984324 133984324 G A SNP SLC35B4 ENST00000378509 human ensembl 74_37 -1 known silent c.624 p.V208 1.000 pfam_UAA pfam_UAA,pfam_Tpt_PEP_trans_dom - no_errors SLC35B4 HGNC ENSG00000205060 18 0 0 21 6 22.2222 C7orf49 0 genome.wustl.edu 37 7 134853507 134853507 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 7 134853507 134853507 C T SNP C7orf49 ENST00000430372 human ensembl 74_37 -1 novel missense c.124 p.E42K 0.002 NULL NULL - no_errors C7orf49 HGNC ENSG00000122783 248 0 0 124 39 23.9264 NUP205 0 genome.wustl.edu 37 7 135307657 135307657 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 7 135307657 135307657 G A SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known missense c.4463 p.G1488D 1.000 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 72 0 0 53 27 33.75 DNAH11 0 genome.wustl.edu 37 7 21654730 21654730 + Splice_Site SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 7 21654730 21654730 A T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known splice_site c.3853-2 e21-2 1.000 - - - no_errors DNAH11 HGNC ENSG00000105877 12 0 0 29 6 17.1429 BRAT1 0 genome.wustl.edu 37 7 2577735 2577735 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 7 2577735 2577735 A T SNP BRAT1 ENST00000340611 human ensembl 74_37 -1 known missense c.2434 p.F812I 0.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 68 0 0 46 21 31.3433 HECW1 0 genome.wustl.edu 37 7 43483913 43483913 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 7 43483913 43483913 G A SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.1142 p.R381Q 0.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 77 0 0 73 9 10.9756 ZNF479 0 genome.wustl.edu 37 7 57187668 57187668 + Missense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 7 57187668 57187668 C A SNP ZNF479 ENST00000331162 human ensembl 74_37 -1 known missense c.1454 p.R485I 0.975 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 ZNF479 HGNC ENSG00000185177 40 0 0 36 7 16.2791 GTF2IRD2 0 genome.wustl.edu 37 7 74211212 74211212 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 7 74211212 74211212 G A SNP GTF2IRD2 ENST00000405086 human ensembl 74_37 -1 known missense c.2639 p.T880M 0.038 superfamily_RNaseH-like_dom pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2 HGNC ENSG00000196275 25 0 0 10 45 81.8182 PCLO 0 genome.wustl.edu 37 7 82764559 82764559 + Silent SNP T T A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 7 82764559 82764559 T A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.2307 p.S769 0.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 65 0 0 169 15 8.15217 ABCB4 0 genome.wustl.edu 37 7 87056199 87056199 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 7 87056199 87056199 A T SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.1931 p.L644Q 0.003 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 43 0 0 82 7 7.86517 ABCB4 0 genome.wustl.edu 37 7 87104744 87104744 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 7 87104744 87104744 C T SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.38 p.R13H 0.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 95 0 0 148 14 8.64198 TRRAP 0 genome.wustl.edu 37 7 98569468 98569468 + Missense_Mutation SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 7 98569468 98569468 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.7718 p.T2573M 0.982 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 136 0 0 298 37 11.0448 RIMS2 0 genome.wustl.edu 37 8 104898096 104898096 + Silent SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 8 104898096 104898096 T C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1269 p.S423 0.998 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 63 0 0 43 11 20.3704 CSMD3 0 genome.wustl.edu 37 8 113275955 113275955 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 8 113275955 113275955 A T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.9775 p.C3259S 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 47 0 0 47 7 12.963 MED30 0 genome.wustl.edu 37 8 118543004 118543004 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 8 118543004 118543004 G A SNP MED30 ENST00000297347 human ensembl 74_37 +1 known missense c.379 p.D127N 0.954 pfam_Mediator_Med30_met pfam_Mediator_Med30_met - no_errors MED30 HGNC ENSG00000164758 13 0 0 26 3 10.3448 MYC 0 genome.wustl.edu 37 8 128751076 128751076 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 8 128751076 128751076 G C SNP MYC ENST00000377970 human ensembl 74_37 +1 known missense c.613 p.D205H 1.000 pfam_Tscrpt_reg_Myc_N pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYC HGNC ENSG00000136997 110 0 0 75 6 7.40741 CSMD1 0 genome.wustl.edu 37 8 3565996 3565996 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 8 3565996 3565996 A C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.949 p.L317V 0.030 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 CSMD1 HGNC ENSG00000183117 42 0 0 28 5 15.1515 PENK 0 genome.wustl.edu 37 8 57354352 57354352 + Missense_Mutation SNP A A T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 8 57354352 57354352 A T SNP PENK ENST00000314922 human ensembl 74_37 -1 known missense c.283 p.L95M 0.001 prints_Proenkphlin_A,prints_Opioid_neupept pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept - no_errors PENK HGNC ENSG00000181195 103 0 0 105 39 27.0833 ZFHX4 0 genome.wustl.edu 37 8 77767850 77767850 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 8 77767850 77767850 G A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.8693 p.R2898H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 78 0 0 26 33 55.9322 CNBD1 0 genome.wustl.edu 37 8 88365898 88365898 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 8 88365898 88365898 T G SNP CNBD1 ENST00000518476 human ensembl 74_37 +1 known missense c.1187 p.L396R 0.229 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 18 0 0 30 12 28.5714 DCAF4L2 0 genome.wustl.edu 37 8 88885090 88885090 + Silent SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 8 88885090 88885090 A G SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known silent c.1110 p.S370 0.934 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 89 0 0 86 9 9.47368 NBN 0 genome.wustl.edu 37 8 90993671 90993671 + Missense_Mutation SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 8 90993671 90993671 C A SNP NBN ENST00000265433 human ensembl 74_37 -1 known missense c.252 p.Q84H 0.968 pfam_FHA_dom,superfamily_SMAD_FHA_domain,pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 65 0 0 36 61 62.8866 ASTN2 0 genome.wustl.edu 37 9 119903650 119903650 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 9 119903650 119903650 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.1123 p.R375C 0.988 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 96 0 0 17 26 60.4651 SETX 0 genome.wustl.edu 37 9 135201772 135201772 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 9 135201772 135201772 T G SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.5213 p.H1738P 0.946 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 34 0 0 27 4 12.9032 BNC2 0 genome.wustl.edu 37 9 16436469 16436469 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 9 16436469 16436469 T G SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.1723 p.S575R 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 105 0 0 33 11 25 KCNV2 0 genome.wustl.edu 37 9 2718659 2718659 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 9 2718659 2718659 T G SNP KCNV2 ENST00000382082 human ensembl 74_37 +1 known missense c.920 p.M307R 0.994 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 106 0 0 53 3 5.35714 BHLHB9 0 genome.wustl.edu 37 X 102004035 102004035 + Missense_Mutation SNP G G C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 X 102004035 102004035 G C SNP BHLHB9 ENST00000361229 human ensembl 74_37 +1 known missense c.112 p.A38P 0.013 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors BHLHB9 HGNC ENSG00000198908 76 0 0 93 22 19.1304 RIPPLY1 0 genome.wustl.edu 37 X 106146380 106146380 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 X 106146380 106146380 T G SNP RIPPLY1 ENST00000276173 human ensembl 74_37 -1 known missense c.138 p.E46D 0.667 NULL NULL - no_errors RIPPLY1 HGNC ENSG00000147223 33 0 0 11 4 26.6667 KLHL13 0 genome.wustl.edu 37 X 117079445 117079445 + Silent SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 X 117079445 117079445 T G SNP KLHL13 ENST00000539496 human ensembl 74_37 -1 known silent c.201 p.G67 1.000 superfamily_BTB/POZ_fold,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 KLHL13 HGNC ENSG00000003096 59 0 0 41 14 25.4545 GLUD2 0 genome.wustl.edu 37 X 120183118 120183118 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 X 120183118 120183118 A C SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known missense c.1580 p.K527T 0.998 smart_Glu/Leu/Phe/Val_DH_C pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 102 0 0 77 21 21.4286 TENM1 0 genome.wustl.edu 37 X 123554379 123554379 + Missense_Mutation SNP G G T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 X 123554379 123554379 G T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.4764 p.S1588R 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 69 0 0 42 9 17.6471 TLR8 0 genome.wustl.edu 37 X 12937481 12937481 + Missense_Mutation SNP G G A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 X 12937481 12937481 G A SNP TLR8 ENST00000218032 human ensembl 74_37 +1 known missense c.322 p.G108S 0.000 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 112 0 0 121 16 11.6788 SOX3 0 genome.wustl.edu 37 X 139586729 139586729 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 X 139586729 139586729 T G SNP SOX3 ENST00000370536 human ensembl 74_37 -1 known missense c.497 p.N166T 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX3 HGNC ENSG00000134595 159 0 0 36 32 47.0588 AFF2 0 genome.wustl.edu 37 X 148044287 148044287 + Missense_Mutation SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 X 148044287 148044287 A C SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.2733 p.K911N 0.752 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 45 0 0 22 17 43.5897 BCAP31 0 genome.wustl.edu 37 X 152986494 152986494 + RNA SNP C C A TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 X 152986494 152986494 C A SNP BCAP31 ENST00000468947 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors BCAP31 HGNC ENSG00000185825 8 0 0 8 5 38.4615 PIR 0 genome.wustl.edu 37 X 15403087 15403087 + RNA SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 X 15403087 15403087 A C SNP PIR ENST00000492432 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PIR HGNC ENSG00000087842 30 0 0 19 2 9.52381 PPP2R3B 0 genome.wustl.edu 37 X 295132 295132 + Silent SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 X 295132 295132 T C SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known silent c.1698 p.A566 0.264 NULL pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 60 0 0 33 4 10.8108 XK 0 genome.wustl.edu 37 X 37587421 37587421 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 X 37587421 37587421 C T SNP XK ENST00000378616 human ensembl 74_37 +1 known silent c.1041 p.C347 0.997 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XK HGNC ENSG00000047597 118 0 0 87 20 18.6916 TRO 0 genome.wustl.edu 37 X 54949399 54949399 + Missense_Mutation SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 X 54949399 54949399 T C SNP TRO ENST00000173898 human ensembl 74_37 +1 known missense c.434 p.V145A 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 35 0 0 31 3 8.82353 FAAH2 0 genome.wustl.edu 37 X 57473429 57473429 + Missense_Mutation SNP C C G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 X 57473429 57473429 C G SNP FAAH2 ENST00000374900 human ensembl 74_37 +1 known missense c.1185 p.I395M 0.423 pfam_Amidase,superfamily_Amidase_dom pfam_Amidase,superfamily_Amidase_dom - no_errors FAAH2 HGNC ENSG00000165591 23 0 0 8 11 57.8947 ZXDA 0 genome.wustl.edu 37 X 57936570 57936570 + Silent SNP C C T TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 X 57936570 57936570 C T SNP ZXDA ENST00000358697 human ensembl 74_37 -1 known silent c.285 p.P95 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDA HGNC ENSG00000198205 50 0 0 17 4 19.0476 VSIG4 0 genome.wustl.edu 37 X 65252408 65252408 + Missense_Mutation SNP T T G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 X 65252408 65252408 T G SNP VSIG4 ENST00000374737 human ensembl 74_37 -1 known missense c.596 p.K199T 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors VSIG4 HGNC ENSG00000155659 101 0 0 46 18 28.125 ITGB1BP2 0 genome.wustl.edu 37 X 70524458 70524458 + RNA SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 X 70524458 70524458 A C SNP ITGB1BP2 ENST00000465388 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ITGB1BP2 HGNC ENSG00000147166 17 0 0 8 3 27.2727 XIST 0 genome.wustl.edu 37 X 73063913 73063913 + RNA SNP A A C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 X 73063913 73063913 A C SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 65 0 0 60 20 25 KIAA2022 0 genome.wustl.edu 37 X 73960013 73960013 + Missense_Mutation SNP T T C TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 X 73960013 73960013 T C SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.4379 p.E1460G 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 62 0 0 27 34 55.7377 SHROOM2 0 genome.wustl.edu 37 X 9863306 9863306 + Missense_Mutation SNP A A G TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 X 9863306 9863306 A G SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known missense c.1358 p.Q453R 0.001 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 159 0 0 50 6 10.7143 C1orf86 0 genome.wustl.edu 37 1 2125333 2125333 + Frame_Shift_Del DEL G G - TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 1 2125333 2125333 G - DEL C1orf86 ENST00000378545 human ensembl 74_37 -1 known frame_shift_del c.524 p.P175fs 0.001 NULL NULL - no_errors C1orf86 HGNC ENSG00000162585 130 0 0 94 13 12.1495 CNTROB 0 genome.wustl.edu 37 17 7851480 7851483 + Frame_Shift_Del DEL CTGA CTGA - TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 CTGA CTGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 17 7851480 7851483 CTGA - DEL CNTROB ENST00000380262 human ensembl 74_37 +1 known frame_shift_del c.2215_2218 p.T740fs 0.184:0.028:0.011:0.000 NULL NULL - no_errors CNTROB HGNC ENSG00000170037 141 0 0 112 17 13.1783 CCL20 0 genome.wustl.edu 37 2 228681080 228681081 + Frame_Shift_Del DEL AT AT - TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 2 228681080 228681081 AT - DEL CCL20 ENST00000358813 human ensembl 74_37 +1 known frame_shift_del c.249_250 p.I85fs 0.124:0.002 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL20 HGNC ENSG00000115009 39 0 0 48 24 33.3333 TRMT10C 0 genome.wustl.edu 37 3 101284009 101284009 + Frame_Shift_Del DEL A A - TCGA-CD-A48C-01A-11D-A24D-08 TCGA-CD-A48C-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2629acc1-8374-47d4-8533-291336e08829 1f4a9466-3d59-47c1-9092-32498e07a789 3 101284009 101284009 A - DEL TRMT10C ENST00000309922 human ensembl 74_37 +1 known frame_shift_del c.384 p.K131fs 0.514 NULL pfam_tRNA_m1G_MeTrfase - no_errors TRMT10C HGNC ENSG00000174173 30 0 0 24 3 11.1111