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 KIF1B 0 genome.wustl.edu 37 1 10321979 10321979 + Missense_Mutation SNP T T G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 10321979 10321979 T G SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.380 p.F127C 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 46 0 0 30 22 42.3077 ENSG00000227091 0 genome.wustl.edu 37 1 110714700 110714700 + Splice_Site SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 110714700 110714700 A T SNP ENSG00000227091 ENST00000443008 human ensembl 74_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors RP5-1028L10.1 Clone_based_vega_gene ENSG00000227091 57 0 0 20 6 23.0769 CTTNBP2NL 0 genome.wustl.edu 37 1 112998804 112998804 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 112998804 112998804 G T SNP CTTNBP2NL ENST00000271277 human ensembl 74_37 +1 known missense c.690 p.Q230H 1.000 NULL pfam_Cortactin-binding_p2_N - no_errors CTTNBP2NL HGNC ENSG00000143079 77 0 0 67 12 15.1899 CAPZA1 0 genome.wustl.edu 37 1 113212788 113212788 + RNA SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 113212788 113212788 G A SNP CAPZA1 ENST00000466066 human ensembl 74_37 +1 known rna NULL NULL 0.982 - - - no_errors CAPZA1 HGNC ENSG00000116489 45 0 0 36 13 26.5306 NOTCH2 0 genome.wustl.edu 37 1 120497838 120497838 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 120497838 120497838 C G SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.2044 p.D682H 1.000 pirsf_Notch,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 59 0 0 49 6 10.9091 PRAMEF1 0 genome.wustl.edu 37 1 12855915 12855915 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 12855915 12855915 C T SNP PRAMEF1 ENST00000332296 human ensembl 74_37 +1 known missense c.1195 p.R399C 0.012 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 172 0 0 141 14 9.03226 ITGA10 0 genome.wustl.edu 37 1 145530340 145530340 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 145530340 145530340 G C SNP ITGA10 ENST00000369304 human ensembl 74_37 +1 known missense c.555 p.Q185H 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 179 1 0.555556 144 60 29.4118 GJA5 0 genome.wustl.edu 37 1 147231318 147231318 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 147231318 147231318 A C SNP GJA5 ENST00000271348 human ensembl 74_37 -1 known missense c.29 p.F10C 1.000 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40 - no_errors GJA5 HGNC ENSG00000143140 107 0 0 63 21 25 SMCP 0 genome.wustl.edu 37 1 152856909 152856909 + Missense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 152856909 152856909 A T SNP SMCP ENST00000368765 human ensembl 74_37 +1 known missense c.11 p.Q4L 0.024 NULL NULL - no_errors SMCP HGNC ENSG00000163206 67 0 0 57 4 6.55738 FLAD1 0 genome.wustl.edu 37 1 154956093 154956093 + RNA SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 154956093 154956093 G A SNP FLAD1 ENST00000487371 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FLAD1 HGNC ENSG00000160688 36 0 0 31 11 26.1905 DCST2 0 genome.wustl.edu 37 1 155005612 155005612 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 155005612 155005612 G C SNP DCST2 ENST00000368424 human ensembl 74_37 -1 known missense c.397 p.Q133E 1.000 NULL pfam_DC_STAMP-like - no_errors DCST2 HGNC ENSG00000163354 18 0 0 16 4 20 OR10Z1 0 genome.wustl.edu 37 1 158577100 158577100 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 158577100 158577100 G T SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known missense c.872 p.S291I 1.000 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 273 0 0 280 36 11.3924 OLFML2B 0 genome.wustl.edu 37 1 161953891 161953891 + Silent SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 161953891 161953891 G C SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known silent c.1827 p.A609 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 66 0 0 52 8 13.3333 TEX35 0 genome.wustl.edu 37 1 178489991 178489991 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 178489991 178489991 T A SNP TEX35 ENST00000319416 human ensembl 74_37 +1 known missense c.525 p.H175Q 0.000 NULL NULL - no_errors TEX35 HGNC ENSG00000240021 48 0 0 51 22 30.137 ZNF648 0 genome.wustl.edu 37 1 182026102 182026102 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 182026102 182026102 C T SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel silent c.1044 p.S348 0.177 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 30 0 0 23 5 17.8571 HMCN1 0 genome.wustl.edu 37 1 185894223 185894223 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 185894223 185894223 C G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.1330 p.L444V 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 42 0 0 40 4 9.09091 HMCN1 0 genome.wustl.edu 37 1 186056779 186056779 + Splice_Site SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 186056779 186056779 T A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known splice_site c.9363+2 e60+2 1.000 - - - no_errors HMCN1 HGNC ENSG00000143341 118 0 0 131 9 6.42857 PAX7 0 genome.wustl.edu 37 1 19062421 19062421 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 19062421 19062421 C A SNP PAX7 ENST00000375375 human ensembl 74_37 +1 known missense c.1451 p.T484N 0.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX7 HGNC ENSG00000009709 52 0 0 31 6 16.2162 PQLC2 0 genome.wustl.edu 37 1 19653095 19653095 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 19653095 19653095 G T SNP PQLC2 ENST00000375153 human ensembl 74_37 +1 known missense c.596 p.R199L 1.000 smart_CTNS superfamily_MFS_dom_general_subst_transpt,smart_CTNS - no_errors PQLC2 HGNC ENSG00000040487 73 0 0 65 14 17.7215 ASPM 0 genome.wustl.edu 37 1 197073768 197073768 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 197073768 197073768 C T SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.4613 p.R1538Q 0.010 superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS 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 117 0 0 126 20 13.6986 KIF14 0 genome.wustl.edu 37 1 200559309 200559309 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 200559309 200559309 G T SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known missense c.2905 p.L969I 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 146 0 0 125 94 42.9224 PLA2G2E 0 genome.wustl.edu 37 1 20249202 20249202 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 20249202 20249202 C G SNP PLA2G2E ENST00000375116 human ensembl 74_37 -1 known missense c.87 p.E29D 0.883 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G2E HGNC ENSG00000188784 110 0 0 84 35 29.4118 LOC148709 0 genome.wustl.edu 37 1 202843373 202843373 + RNA SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 202843373 202843373 G C SNP LOC148709 ENST00000456105 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-480I12.7 Clone_based_vega_gene ENSG00000234996 13 0 0 5 8 61.5385 MYBPH 0 genome.wustl.edu 37 1 203144770 203144770 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 203144770 203144770 G A SNP MYBPH ENST00000255416 human ensembl 74_37 -1 known silent c.114 p.S38 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPH HGNC ENSG00000133055 240 0 0 221 21 8.67769 NFASC 0 genome.wustl.edu 37 1 204943805 204943805 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 204943805 204943805 G A SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.1412 p.S471N 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 150 0 0 194 29 13.0045 TMCC2 0 genome.wustl.edu 37 1 205210856 205210856 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 205210856 205210856 G A SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known missense c.431 p.R144Q 0.666 NULL pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 30 0 0 36 7 16.2791 IKBKE 0 genome.wustl.edu 37 1 206647762 206647762 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 206647762 206647762 T C SNP IKBKE ENST00000367120 human ensembl 74_37 +1 known missense c.176 p.L59P 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 IKBKE HGNC ENSG00000143466 37 0 0 49 7 12.5 CR1L 0 genome.wustl.edu 37 1 207850787 207850787 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 207850787 207850787 G A SNP CR1L ENST00000508064 human ensembl 74_37 +1 known missense c.151 p.D51N 0.001 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 141 0 0 136 47 25.6831 LAMB3 0 genome.wustl.edu 37 1 209799127 209799127 + Silent SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 209799127 209799127 C G SNP LAMB3 ENST00000356082 human ensembl 74_37 -1 known silent c.1842 p.G614 0.000 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 76 0 0 43 48 52.7473 USH2A 0 genome.wustl.edu 37 1 215844540 215844540 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 215844540 215844540 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.13907 p.P4636H 0.468 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 115 1 0.862069 109 12 9.91736 SLC30A10 0 genome.wustl.edu 37 1 220091794 220091794 + Missense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 220091794 220091794 A T SNP SLC30A10 ENST00000366926 human ensembl 74_37 -1 known missense c.761 p.V254D 0.990 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A10 HGNC ENSG00000196660 149 1 0.666667 104 73 41.2429 CNIH3 0 genome.wustl.edu 37 1 224922345 224922345 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 224922345 224922345 G T SNP CNIH3 ENST00000272133 human ensembl 74_37 +1 known missense c.392 p.C131F 1.000 pfam_Cornichon pfam_Cornichon - no_errors CNIH3 HGNC ENSG00000143786 105 0 0 122 45 26.9461 SDE2 0 genome.wustl.edu 37 1 226175773 226175773 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 226175773 226175773 G C SNP SDE2 ENST00000272091 human ensembl 74_37 -1 known missense c.958 p.Q320E 0.000 NULL superfamily_Mopterin_synth/thiamin_S_b - no_errors SDE2 HGNC ENSG00000143751 189 0 0 115 80 41.0256 EPHA8 0 genome.wustl.edu 37 1 22927279 22927279 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 22927279 22927279 C T SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known silent c.2514 p.P838 0.999 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 EPHA8 HGNC ENSG00000070886 120 0 0 80 26 24.5283 GALNT2 0 genome.wustl.edu 37 1 230379172 230379172 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 230379172 230379172 A C SNP GALNT2 ENST00000366672 human ensembl 74_37 +1 known missense c.728 p.E243A 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT2 HGNC ENSG00000143641 52 0 0 51 9 15 ASAP3 0 genome.wustl.edu 37 1 23763691 23763691 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 23763691 23763691 G C SNP ASAP3 ENST00000336689 human ensembl 74_37 -1 known missense c.1274 p.T425R 0.971 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 17 0 0 13 5 27.7778 ADSS 0 genome.wustl.edu 37 1 244582180 244582180 + Missense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 244582180 244582180 A T SNP ADSS ENST00000366535 human ensembl 74_37 -1 known missense c.827 p.V276D 1.000 pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSS HGNC ENSG00000035687 36 0 0 39 13 25 DESI2 0 genome.wustl.edu 37 1 244849945 244849945 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 244849945 244849945 A C SNP DESI2 ENST00000302550 human ensembl 74_37 +1 novel missense c.89 p.H30P 1.000 pfam_PPPDE_dom pfam_PPPDE_dom - no_errors DESI2 HGNC ENSG00000121644 84 0 0 71 32 31.068 GRHL3 0 genome.wustl.edu 37 1 24663062 24663062 + Silent SNP A A G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 24663062 24663062 A G SNP GRHL3 ENST00000350501 human ensembl 74_37 +1 known silent c.357 p.G119 0.001 NULL pfam_CP2,superfamily_C2_dom - no_errors GRHL3 HGNC ENSG00000158055 172 0 0 135 22 14.0127 OR14A16 0 genome.wustl.edu 37 1 247978674 247978674 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 247978674 247978674 G A SNP OR14A16 ENST00000357627 human ensembl 74_37 -1 known missense c.358 p.R120C 0.996 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 OR14A16 HGNC ENSG00000196772 95 0 0 80 48 37.5 RPS6KA1 0 genome.wustl.edu 37 1 26888123 26888123 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 26888123 26888123 G A SNP RPS6KA1 ENST00000531382 human ensembl 74_37 +1 known missense c.1586 p.G529D 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA1 HGNC ENSG00000117676 106 0 0 82 28 25.4545 CSMD2 0 genome.wustl.edu 37 1 34554768 34554768 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 34554768 34554768 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.214 p.G72S 0.995 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 46 0 0 25 10 28.5714 COL8A2 0 genome.wustl.edu 37 1 36564121 36564121 + Silent SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 36564121 36564121 T A SNP COL8A2 ENST00000303143 human ensembl 74_37 -1 known silent c.1161 p.P387 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A2 HGNC ENSG00000171812 10 0 0 9 4 30.7692 CSF3R 0 genome.wustl.edu 37 1 36932035 36932035 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 36932035 36932035 C A SNP CSF3R ENST00000373103 human ensembl 74_37 -1 known missense c.2515 p.V839F 0.997 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 39 0 0 30 10 25 CSF3R 0 genome.wustl.edu 37 1 36938253 36938253 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 36938253 36938253 G A SNP CSF3R ENST00000373103 human ensembl 74_37 -1 known silent c.708 p.D236 0.000 superfamily_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 24 0 0 14 6 30 CSF3R 0 genome.wustl.edu 37 1 36938254 36938254 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 36938254 36938254 T C SNP CSF3R ENST00000373103 human ensembl 74_37 -1 known missense c.707 p.D236G 0.000 superfamily_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 24 0 0 14 6 30 EPHA10 0 genome.wustl.edu 37 1 38227298 38227298 + Missense_Mutation SNP T T G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 38227298 38227298 T G SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known missense c.629 p.Q210P 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,smart_Ephrin_rcpt_lig-bd_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_SAM/pointed,superfamily_Fibronectin_type3,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 EPHA10 HGNC ENSG00000183317 44 0 0 32 11 25.5814 EPHA10 0 genome.wustl.edu 37 1 38227300 38227300 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 38227300 38227300 C G SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known missense c.627 p.K209N 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_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_SAM/pointed,superfamily_Fibronectin_type3,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 EPHA10 HGNC ENSG00000183317 45 0 0 32 12 27.2727 MACF1 0 genome.wustl.edu 37 1 39749100 39749100 + Silent SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 39749100 39749100 A C SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known silent c.843 p.P281 0.957 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 62 0 0 83 13 13.5417 B4GALT2 0 genome.wustl.edu 37 1 44446826 44446826 + Silent SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 44446826 44446826 C G SNP B4GALT2 ENST00000309519 human ensembl 74_37 +1 known silent c.81 p.A27 0.996 NULL pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT2 HGNC ENSG00000117411 29 0 0 21 6 22.2222 TMEM53 0 genome.wustl.edu 37 1 45120509 45120509 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 45120509 45120509 C G SNP TMEM53 ENST00000372237 human ensembl 74_37 -1 known missense c.556 p.V186L 0.109 pfam_DUF829_TMEM53 pfam_DUF829_TMEM53 - no_errors TMEM53 HGNC ENSG00000126106 50 0 0 34 6 15 DMBX1 0 genome.wustl.edu 37 1 46976756 46976756 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 46976756 46976756 G T SNP DMBX1 ENST00000371956 human ensembl 74_37 +1 known missense c.498 p.Q166H 0.987 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors DMBX1 HGNC ENSG00000197587 75 0 0 92 8 8 C1orf168 0 genome.wustl.edu 37 1 57258129 57258129 + Silent SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 57258129 57258129 T C SNP C1orf168 ENST00000343433 human ensembl 74_37 -1 known silent c.357 p.Q119 0.000 NULL superfamily_SH3_domain - no_errors C1orf168 HGNC ENSG00000187889 163 0 0 139 17 10.8974 C8B 0 genome.wustl.edu 37 1 57411524 57411524 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 57411524 57411524 C T SNP C8B ENST00000371237 human ensembl 74_37 -1 known missense c.1075 p.V359I 0.548 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8B HGNC ENSG00000021852 68 0 0 40 30 42.8571 NPHP4 0 genome.wustl.edu 37 1 5965732 5965732 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 5965732 5965732 G A SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known missense c.1723 p.P575S 0.980 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 32 0 0 22 5 18.5185 ROR1 0 genome.wustl.edu 37 1 64515551 64515551 + Missense_Mutation SNP A A G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 64515551 64515551 A G SNP ROR1 ENST00000371079 human ensembl 74_37 +1 known missense c.352 p.I118V 0.999 pirsf_Tyr_kinase_rcpt_ROR,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR1 HGNC ENSG00000185483 159 0 0 147 28 16 LEPR 0 genome.wustl.edu 37 1 66102502 66102502 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 66102502 66102502 C T SNP LEPR ENST00000349533 human ensembl 74_37 +1 known missense c.3302 p.S1101L 0.000 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 64 0 0 60 12 16.6667 CTH 0 genome.wustl.edu 37 1 70904487 70904487 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 70904487 70904487 T C SNP CTH ENST00000370938 human ensembl 74_37 +1 known missense c.1169 p.L390P 0.987 pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,pirsf_Cys/Met-Metab_PyrdxlP-dep_enz pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cys/Met-Metab_PyrdxlP-dep_enz - no_errors CTH HGNC ENSG00000116761 64 0 0 40 27 40.2985 SYDE2 0 genome.wustl.edu 37 1 85648626 85648626 + Nonsense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 85648626 85648626 G A SNP SYDE2 ENST00000341460 human ensembl 74_37 -1 known nonsense c.1699 p.R567* 0.404 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE2 HGNC ENSG00000097096 222 0 0 135 108 44.4444 COL24A1 0 genome.wustl.edu 37 1 86591326 86591326 + Silent SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 86591326 86591326 A C SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known silent c.693 p.S231 0.904 superfamily_ConA-like_lec_gl_sf pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 57 0 0 42 23 35.3846 ABCC2 0 genome.wustl.edu 37 10 101565153 101565153 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 10 101565153 101565153 G A SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known silent c.1479 p.K493 0.835 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 95 0 0 78 33 29.7297 ARL3 0 genome.wustl.edu 37 10 104459163 104459163 + Nonsense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 10 104459163 104459163 G C SNP ARL3 ENST00000260746 human ensembl 74_37 -1 known nonsense c.231 p.Y77* 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,prints_Gprotein_alpha_su,tigrfam_Small_GTP-bd_dom - no_errors ARL3 HGNC ENSG00000138175 36 0 0 29 7 19.4444 NEURL 0 genome.wustl.edu 37 10 105331527 105331527 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 10 105331527 105331527 G A SNP NEURL ENST00000369780 human ensembl 74_37 +1 known silent c.597 p.P199 0.986 pfscan_Neu_Z pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING - no_errors NEURL HGNC ENSG00000107954 63 0 0 66 13 16.4557 SORCS3 0 genome.wustl.edu 37 10 107016591 107016591 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 10 107016591 107016591 T C SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.3352 p.S1118P 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 49 0 0 24 31 56.3636 DHTKD1 0 genome.wustl.edu 37 10 12136219 12136219 + Missense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 10 12136219 12136219 A T SNP DHTKD1 ENST00000263035 human ensembl 74_37 +1 known missense c.1307 p.N436I 1.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC ENSG00000181192 83 0 0 84 8 8.69565 MKI67 0 genome.wustl.edu 37 10 129908757 129908757 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 10 129908757 129908757 C T SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known silent c.2301 p.P767 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 119 0 0 152 17 10.0592 GPR123 0 genome.wustl.edu 37 10 134896275 134896275 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 10 134896275 134896275 G A SNP GPR123 ENST00000607359 human ensembl 74_37 +1 putative silent c.1287 p.P429 0.000 NULL pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 20 0 0 9 13 59.0909 BEND7 0 genome.wustl.edu 37 10 13523094 13523094 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 10 13523094 13523094 C T SNP BEND7 ENST00000396900 human ensembl 74_37 -1 known missense c.868 p.V290M 1.000 NULL pfam_BEN_domain - no_errors BEND7 HGNC ENSG00000165626 60 0 0 57 7 10.9375 PTF1A 0 genome.wustl.edu 37 10 23481531 23481531 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 10 23481531 23481531 C T SNP PTF1A ENST00000376504 human ensembl 74_37 +1 known silent c.72 p.D24 0.992 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors PTF1A HGNC ENSG00000168267 93 0 0 50 18 26.4706 NRP1 0 genome.wustl.edu 37 10 33481257 33481257 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 10 33481257 33481257 T C SNP NRP1 ENST00000265371 human ensembl 74_37 -1 known missense c.2014 p.K672E 0.988 pirsf_Neuropilin,pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 360 0 0 277 109 28.2383 CDH23 0 genome.wustl.edu 37 10 73544812 73544812 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 10 73544812 73544812 C A SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.5682 p.N1894K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 95 0 0 30 55 64.7059 CDH23 0 genome.wustl.edu 37 10 73553038 73553038 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 10 73553038 73553038 T A SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.6368 p.I2123N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 65 0 0 46 12 20.6897 ITIH5 0 genome.wustl.edu 37 10 7618424 7618424 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 10 7618424 7618424 G A SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.1970 p.T657M 0.001 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 24 0 0 13 6 31.5789 KIF11 0 genome.wustl.edu 37 10 94405294 94405294 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 10 94405294 94405294 G C SNP KIF11 ENST00000260731 human ensembl 74_37 +1 known missense c.2442 p.E814D 0.614 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC ENSG00000138160 60 0 0 29 33 53.2258 TCTN3 0 genome.wustl.edu 37 10 97423868 97423868 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 10 97423868 97423868 G C SNP TCTN3 ENST00000371217 human ensembl 74_37 -1 known missense c.1780 p.L594V 0.037 NULL pfam_DUF1619 - no_errors TCTN3 HGNC ENSG00000119977 228 0 0 242 24 9.02256 DDI1 0 genome.wustl.edu 37 11 103908451 103908451 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 103908451 103908451 C A SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known missense c.901 p.R301S 0.990 pfam_Peptidase_aspartic_DDI1-type,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 97 0 0 45 12 21.0526 AMPD3 0 genome.wustl.edu 37 11 10516557 10516557 + Missense_Mutation SNP T T G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 10516557 10516557 T G SNP AMPD3 ENST00000396553 human ensembl 74_37 +1 known missense c.1246 p.Y416D 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 167 0 0 166 45 21.327 NPAT 0 genome.wustl.edu 37 11 108047806 108047806 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 108047806 108047806 G T SNP NPAT ENST00000278612 human ensembl 74_37 -1 known missense c.918 p.H306Q 0.793 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 53 0 0 28 7 20 GALNT18 0 genome.wustl.edu 37 11 11398919 11398919 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 11398919 11398919 G C SNP GALNT18 ENST00000227756 human ensembl 74_37 -1 known missense c.787 p.P263A 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT18 HGNC ENSG00000110328 58 0 0 33 16 32.6531 ZBTB16 0 genome.wustl.edu 37 11 114057740 114057740 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 114057740 114057740 C G SNP ZBTB16 ENST00000335953 human ensembl 74_37 +1 known missense c.1433 p.T478R 0.994 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZBTB16 HGNC ENSG00000109906 109 0 0 62 12 16.2162 NXPE4 0 genome.wustl.edu 37 11 114453606 114453606 + Silent SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 114453606 114453606 T C SNP NXPE4 ENST00000375478 human ensembl 74_37 -1 known silent c.234 p.K78 0.022 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE4 HGNC ENSG00000137634 258 0 0 186 37 16.5919 MFRP 0 genome.wustl.edu 37 11 119217082 119217082 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 119217082 119217082 G A SNP MFRP ENST00000449574 human ensembl 74_37 -1 known silent c.57 p.T19 0.995 NULL pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 59 0 0 42 11 20.7547 OR8D4 0 genome.wustl.edu 37 11 123778075 123778075 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 123778075 123778075 C G SNP OR8D4 ENST00000321355 human ensembl 74_37 +1 known missense c.937 p.P313A 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D4 HGNC ENSG00000181518 21 0 0 21 3 12.5 VWA5A 0 genome.wustl.edu 37 11 124012317 124012317 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 124012317 124012317 C T SNP VWA5A ENST00000392748 human ensembl 74_37 +1 known missense c.1892 p.A631V 0.000 NULL pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC ENSG00000110002 91 0 0 81 13 13.8298 SOX6 0 genome.wustl.edu 37 11 15994530 15994530 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 15994530 15994530 G T SNP SOX6 ENST00000352083 human ensembl 74_37 -1 known missense c.2312 p.P771H 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX6 HGNC ENSG00000110693 102 0 0 101 14 12.1739 SLC5A12 0 genome.wustl.edu 37 11 26708084 26708084 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 26708084 26708084 T C SNP SLC5A12 ENST00000527405 human ensembl 74_37 -1 known missense c.601 p.I201V 0.175 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter - no_errors SLC5A12 HGNC ENSG00000148942 65 0 0 37 8 17.7778 CAPRIN1 0 genome.wustl.edu 37 11 34112103 34112103 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 34112103 34112103 A C SNP CAPRIN1 ENST00000341394 human ensembl 74_37 +1 known missense c.1432 p.T478P 0.997 pfam_Caprin-1_C pfam_Caprin-1_C - no_errors CAPRIN1 HGNC ENSG00000135387 85 0 0 63 9 12.5 PRDM11 0 genome.wustl.edu 37 11 45204573 45204573 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 45204573 45204573 G A SNP PRDM11 ENST00000263765 human ensembl 74_37 +1 known missense c.487 p.V163M 1.000 NULL pfscan_SET_dom - no_errors PRDM11 HGNC ENSG00000019485 54 0 0 35 14 28.5714 PSMC3 0 genome.wustl.edu 37 11 47446159 47446159 + Missense_Mutation SNP T T G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 47446159 47446159 T G SNP PSMC3 ENST00000298852 human ensembl 74_37 -1 known missense c.389 p.Q130P 1.000 tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC3 HGNC ENSG00000165916 75 0 0 58 21 26.5823 AGBL2 0 genome.wustl.edu 37 11 47712177 47712177 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 47712177 47712177 T C SNP AGBL2 ENST00000357610 human ensembl 74_37 -1 known missense c.1082 p.K361R 0.987 NULL pfam_Peptidase_M14 - no_errors AGBL2 HGNC ENSG00000165923 165 0 0 135 52 27.8075 OR4A15 0 genome.wustl.edu 37 11 55135745 55135745 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 55135745 55135745 T C SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known missense c.386 p.L129P 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A15 HGNC ENSG00000181958 182 0 0 130 48 26.9663 UBQLN3 0 genome.wustl.edu 37 11 5529220 5529220 + Silent SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 5529220 5529220 G C SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known silent c.1569 p.A523 0.931 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 75 0 0 47 5 9.61538 OR4C15 0 genome.wustl.edu 37 11 55322517 55322517 + Silent SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 55322517 55322517 T C SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known silent c.735 p.T245 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 61 0 0 40 18 31.0345 OR8H1 0 genome.wustl.edu 37 11 56058115 56058115 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 56058115 56058115 C T SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known missense c.424 p.A142T 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 OR8H1 HGNC ENSG00000181693 77 0 0 57 21 26.9231 OR8U1 0 genome.wustl.edu 37 11 56143593 56143593 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 56143593 56143593 G A SNP OR8U1 ENST00000302270 human ensembl 74_37 +1 known missense c.494 p.R165H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8U1 HGNC ENSG00000172199 324 0 0 312 22 6.58683 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5656043 5656043 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 5656043 5656043 C T SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 +1 known silent c.1764 p.I588 0.999 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 63 0 0 34 14 29.1667 TNKS1BP1 0 genome.wustl.edu 37 11 57077309 57077309 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 57077309 57077309 C T SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known missense c.2876 p.R959K 0.001 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 205 0 0 174 52 23.0088 OR5B3 0 genome.wustl.edu 37 11 58170549 58170549 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 58170549 58170549 G C SNP OR5B3 ENST00000309403 human ensembl 74_37 -1 known missense c.334 p.L112V 0.333 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B3 HGNC ENSG00000172769 111 0 0 102 25 19.685 RTN3 0 genome.wustl.edu 37 11 63517497 63517497 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 63517497 63517497 G C SNP RTN3 ENST00000377819 human ensembl 74_37 +1 known missense c.2565 p.K855N 1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 34 0 0 22 9 29.0323 RASGRP2 0 genome.wustl.edu 37 11 64504226 64504226 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 64504226 64504226 G A SNP RASGRP2 ENST00000377494 human ensembl 74_37 -1 known missense c.1094 p.T365M 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 9 0 0 11 4 26.6667 SNX32 0 genome.wustl.edu 37 11 65617469 65617469 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 65617469 65617469 T C SNP SNX32 ENST00000308342 human ensembl 74_37 +1 known missense c.220 p.Y74H 0.899 pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX32 HGNC ENSG00000172803 47 0 0 39 13 25 SNX32 0 genome.wustl.edu 37 11 65620002 65620002 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 65620002 65620002 C T SNP SNX32 ENST00000308342 human ensembl 74_37 +1 known missense c.892 p.R298C 0.698 pfam_Vps5_C,pirsf_Snx5_Snx6 pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX32 HGNC ENSG00000172803 85 0 0 65 10 13.3333 RBM4B 0 genome.wustl.edu 37 11 66444180 66444180 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 66444180 66444180 G A SNP RBM4B ENST00000310046 human ensembl 74_37 -1 known missense c.371 p.A124V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4B HGNC ENSG00000173914 166 0 0 123 46 27.2189 NUMA1 0 genome.wustl.edu 37 11 71724269 71724269 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 71724269 71724269 C T SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.4280 p.R1427Q 1.000 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 97 0 0 69 22 24.1758 NUMA1 0 genome.wustl.edu 37 11 71727513 71727513 + Missense_Mutation SNP A A G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 71727513 71727513 A G SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.1183 p.S395P 0.048 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 116 0 0 96 18 15.7895 CLPB 0 genome.wustl.edu 37 11 72006684 72006684 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 72006684 72006684 C T SNP CLPB ENST00000294053 human ensembl 74_37 -1 known silent c.1428 p.L476 1.000 pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Sigma_54_int,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,prints_ClpA/B,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CLPB HGNC ENSG00000162129 32 0 0 21 4 16 PDE2A 0 genome.wustl.edu 37 11 72295356 72295356 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 72295356 72295356 C T SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known silent c.1539 p.E513 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 25 0 0 21 7 25 RNF169 0 genome.wustl.edu 37 11 74545757 74545757 + Silent SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 74545757 74545757 T C SNP RNF169 ENST00000299563 human ensembl 74_37 +1 known silent c.879 p.C293 0.986 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF169 HGNC ENSG00000166439 74 0 0 54 24 30.7692 SLCO2B1 0 genome.wustl.edu 37 11 74876911 74876911 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 74876911 74876911 C A SNP SLCO2B1 ENST00000289575 human ensembl 74_37 +1 known missense c.365 p.A122D 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO2B1 HGNC ENSG00000137491 177 0 0 148 53 26.3682 RSF1 0 genome.wustl.edu 37 11 77412830 77412830 + Missense_Mutation SNP T T G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 77412830 77412830 T G SNP RSF1 ENST00000308488 human ensembl 74_37 -1 known missense c.1444 p.T482P 0.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 135 0 0 105 51 32.6923 NDUFC2 0 genome.wustl.edu 37 11 77784130 77784130 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 77784130 77784130 A C SNP NDUFC2 ENST00000281031 human ensembl 74_37 -1 known missense c.224 p.V75G 1.000 pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su - no_errors NDUFC2 HGNC ENSG00000151366 121 0 0 77 23 23 NLRP10 0 genome.wustl.edu 37 11 7982669 7982669 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 7982669 7982669 G A SNP NLRP10 ENST00000328600 human ensembl 74_37 -1 known silent c.490 p.L164 0.000 superfamily_P-loop_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC ENSG00000182261 57 0 0 45 6 11.7647 TAF1D 0 genome.wustl.edu 37 11 93469380 93469380 + Nonsense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 93469380 93469380 T A SNP TAF1D ENST00000323981 human ensembl 74_37 -1 known nonsense c.784 p.K262* 0.032 NULL NULL - no_errors TAF1D HGNC ENSG00000166012 122 0 0 104 12 10.3448 FUT4 0 genome.wustl.edu 37 11 94277451 94277451 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 94277451 94277451 C G SNP FUT4 ENST00000358752 human ensembl 74_37 +1 known missense c.152 p.A51G 0.143 NULL pfam_Glyco_trans_10 - no_errors FUT4 HGNC ENSG00000196371 13 0 0 8 3 27.2727 GPN3 0 genome.wustl.edu 37 12 110905945 110905945 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 110905945 110905945 C T SNP GPN3 ENST00000537466 human ensembl 74_37 -1 known missense c.64 p.D22N 0.000 pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase - no_errors GPN3 HGNC ENSG00000111231 129 0 0 106 42 28.3784 HECTD4 0 genome.wustl.edu 37 12 112621028 112621028 + Missense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 112621028 112621028 A T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.10306 p.F3436I 0.999 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 227 0 0 229 45 16.4234 TAS2R30 0 genome.wustl.edu 37 12 11286388 11286388 + Silent SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 11286388 11286388 A C SNP TAS2R30 ENST00000539585 human ensembl 74_37 -1 known silent c.456 p.T152 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R30 HGNC ENSG00000256188 167 0 0 175 21 10.7143 KSR2 0 genome.wustl.edu 37 12 117993048 117993048 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 117993048 117993048 G A SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.1444 p.P482S 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 35 0 0 29 14 32.5581 WSB2 0 genome.wustl.edu 37 12 118480940 118480940 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 118480940 118480940 G C SNP WSB2 ENST00000315436 human ensembl 74_37 -1 known missense c.425 p.T142R 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WSB2 HGNC ENSG00000176871 94 0 0 94 5 5.05051 CIT 0 genome.wustl.edu 37 12 120128120 120128120 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 120128120 120128120 G C SNP CIT ENST00000261833 human ensembl 74_37 -1 known missense c.5896 p.L1966V 1.000 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,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,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 15 0 0 19 10 34.4828 CIT 0 genome.wustl.edu 37 12 120148871 120148871 + RNA SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 120148871 120148871 G C SNP CIT ENST00000543324 human ensembl 74_37 -1 known rna NULL NULL 0.763 - - - no_errors CIT HGNC ENSG00000122966 119 0 0 94 19 16.8142 P2RX7 0 genome.wustl.edu 37 12 121622455 121622455 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 121622455 121622455 G A SNP P2RX7 ENST00000546057 human ensembl 74_37 +1 known silent c.1638 p.R546 0.942 NULL pfam_P2X_purnocptor,prints_P2X7_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX7 HGNC ENSG00000089041 13 0 0 6 4 40 ZCCHC8 0 genome.wustl.edu 37 12 122958648 122958648 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 122958648 122958648 G T SNP ZCCHC8 ENST00000336229 human ensembl 74_37 -1 known missense c.1520 p.S507Y 0.003 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 89 0 0 73 28 27.7228 DNAH10 0 genome.wustl.edu 37 12 124352050 124352050 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 124352050 124352050 T C SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.6850 p.Y2284H 0.999 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 43 0 0 35 8 18.6047 TMEM132D 0 genome.wustl.edu 37 12 129558601 129558601 + Nonsense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 129558601 129558601 G C SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known nonsense c.3119 p.S1040* 0.998 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 91 0 0 72 24 25 RIMBP2 0 genome.wustl.edu 37 12 130892274 130892274 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 130892274 130892274 G A SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known silent c.2922 p.V974 0.001 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 326 0 0 282 69 19.6581 ULK1 0 genome.wustl.edu 37 12 132394492 132394492 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 132394492 132394492 C T SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.754 p.R252W 0.157 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 58 0 0 51 22 30.137 GALNT9 0 genome.wustl.edu 37 12 132681779 132681779 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 132681779 132681779 C G SNP GALNT9 ENST00000328957 human ensembl 74_37 -1 known missense c.1685 p.R562P 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT9 HGNC ENSG00000182870 58 0 0 53 7 11.6667 PIK3C2G 0 genome.wustl.edu 37 12 18544106 18544106 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 18544106 18544106 G C SNP PIK3C2G ENST00000538779 human ensembl 74_37 +1 known missense c.2046 p.E682D 0.007 superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 45 0 0 33 17 34 CACNA1C 0 genome.wustl.edu 37 12 2800085 2800085 + Missense_Mutation SNP T T G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 2800085 2800085 T G SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.6350 p.L2117R 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 12 0 0 8 5 38.4615 FGF6 0 genome.wustl.edu 37 12 4554416 4554416 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 4554416 4554416 G A SNP FGF6 ENST00000228837 human ensembl 74_37 -1 known silent c.321 p.S107 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF6 HGNC ENSG00000111241 11 0 0 15 5 25 KCNH3 0 genome.wustl.edu 37 12 49949443 49949443 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 49949443 49949443 C A SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known missense c.2177 p.S726Y 1.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 23 0 0 18 6 25 KRT81 0 genome.wustl.edu 37 12 52681408 52681408 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 52681408 52681408 G A SNP KRT81 ENST00000327741 human ensembl 74_37 -1 known missense c.998 p.T333M 0.116 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT81 HGNC ENSG00000205426 80 0 0 50 16 24.2424 KRT71 0 genome.wustl.edu 37 12 52946543 52946543 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 52946543 52946543 C T SNP KRT71 ENST00000267119 human ensembl 74_37 -1 known missense c.319 p.V107I 0.767 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT71 HGNC ENSG00000139648 116 0 0 85 18 17.4757 KRT4 0 genome.wustl.edu 37 12 53207397 53207397 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 53207397 53207397 G A SNP KRT4 ENST00000293774 human ensembl 74_37 -1 known missense c.668 p.A223V 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT4 HGNC ENSG00000170477 262 0 0 204 54 20.9302 COPZ1 0 genome.wustl.edu 37 12 54743432 54743432 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 54743432 54743432 C A SNP COPZ1 ENST00000262061 human ensembl 74_37 +1 known missense c.476 p.T159N 1.000 NULL pfam_AP_mu_sigma_su,superfamily_Longin-like_dom - no_errors COPZ1 HGNC ENSG00000111481 365 0 0 309 102 24.8175 TESPA1 0 genome.wustl.edu 37 12 55356846 55356846 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 55356846 55356846 G T SNP TESPA1 ENST00000316577 human ensembl 74_37 -1 known missense c.836 p.P279H 1.000 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 53 0 0 32 18 36 B4GALNT3 0 genome.wustl.edu 37 12 659023 659023 + Silent SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 659023 659023 T C SNP B4GALNT3 ENST00000266383 human ensembl 74_37 +1 known silent c.942 p.D314 0.003 NULL pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 46 0 0 32 5 13.5135 PTPRB 0 genome.wustl.edu 37 12 70949667 70949667 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 70949667 70949667 G T SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known missense c.4976 p.T1659N 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 31 0 0 37 17 31.4815 PTPRB 0 genome.wustl.edu 37 12 70974915 70974915 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 70974915 70974915 T A SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known missense c.2479 p.S827C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 169 0 0 160 50 23.8095 OTOGL 0 genome.wustl.edu 37 12 80771646 80771646 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 80771646 80771646 G T SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known missense c.6853 p.D2285Y 1.000 smart_Cys_knot_C,pfscan_Cys_knot_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 27 0 0 33 4 10.8108 SLC2A3 0 genome.wustl.edu 37 12 8083958 8083958 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 8083958 8083958 G A SNP SLC2A3 ENST00000075120 human ensembl 74_37 -1 known silent c.393 p.C131 0.279 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A3 HGNC ENSG00000059804 93 0 0 73 19 20.6522 PPFIA2 0 genome.wustl.edu 37 12 82147870 82147870 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 82147870 82147870 C T SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.131 p.R44H 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 38 0 0 30 7 18.9189 CLEC6A 0 genome.wustl.edu 37 12 8610506 8610506 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 8610506 8610506 G T SNP CLEC6A ENST00000382073 human ensembl 74_37 +1 known missense c.44 p.W15L 0.002 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC6A HGNC ENSG00000205846 70 0 0 57 14 19.7183 COL4A1 0 genome.wustl.edu 37 13 110815821 110815821 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 13 110815821 110815821 G T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.4238 p.A1413D 0.001 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 30 0 0 18 15 45.4545 ATP12A 0 genome.wustl.edu 37 13 25281425 25281425 + Missense_Mutation SNP A A G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 13 25281425 25281425 A G SNP ATP12A ENST00000218548 human ensembl 74_37 +1 known missense c.2365 p.I789V 1.000 tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP12A HGNC ENSG00000075673 170 0 0 169 35 17.1569 PABPC3 0 genome.wustl.edu 37 13 25671743 25671743 + Silent SNP A A G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 13 25671743 25671743 A G SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known silent c.1407 p.R469 0.991 tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 145 0 0 119 15 11.194 SLC7A1 0 genome.wustl.edu 37 13 30109978 30109978 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 13 30109978 30109978 G A SNP SLC7A1 ENST00000380752 human ensembl 74_37 -1 known silent c.348 p.N116 0.987 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A1 HGNC ENSG00000139514 72 0 0 58 17 22.6667 TRPC4 0 genome.wustl.edu 37 13 38237650 38237650 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 13 38237650 38237650 C A SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known missense c.1591 p.A531S 1.000 pfam_Ion_trans_dom,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 63 0 0 54 24 30.7692 SLC25A15 0 genome.wustl.edu 37 13 41383755 41383755 + Silent SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 13 41383755 41383755 C G SNP SLC25A15 ENST00000338625 human ensembl 74_37 +1 known silent c.858 p.A286 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A15 HGNC ENSG00000102743 75 0 0 130 25 16.129 NUFIP1 0 genome.wustl.edu 37 13 45533532 45533532 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 13 45533532 45533532 C G SNP NUFIP1 ENST00000379161 human ensembl 74_37 -1 known missense c.1005 p.L335F 0.496 NULL pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors NUFIP1 HGNC ENSG00000083635 141 0 0 158 9 5.38922 KIAA0226L 0 genome.wustl.edu 37 13 46930568 46930568 + Silent SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 13 46930568 46930568 A C SNP KIAA0226L ENST00000389908 human ensembl 74_37 -1 known silent c.1329 p.P443 0.927 NULL NULL - no_errors KIAA0226L HGNC ENSG00000102445 48 0 0 42 3 6.66667 THSD1 0 genome.wustl.edu 37 13 52972273 52972273 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 13 52972273 52972273 T A SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.115 p.N39Y 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 101 0 0 125 8 6.01504 LECT1 0 genome.wustl.edu 37 13 53298169 53298169 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 13 53298169 53298169 A C SNP LECT1 ENST00000377962 human ensembl 74_37 -1 known missense c.431 p.V144G 1.000 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors LECT1 HGNC ENSG00000136110 53 0 0 38 13 25.4902 PCDH20 0 genome.wustl.edu 37 13 61987872 61987872 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 13 61987872 61987872 G A SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known silent c.360 p.S120 1.000 pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 43 0 0 21 7 25 KLHL1 0 genome.wustl.edu 37 13 70681469 70681469 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 13 70681469 70681469 G A SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known silent c.363 p.Y121 0.964 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 86 0 0 49 20 28.9855 SLITRK6 0 genome.wustl.edu 37 13 86369359 86369359 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 13 86369359 86369359 C T SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.1285 p.G429S 0.126 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 78 0 0 49 9 15.5172 SLITRK5 0 genome.wustl.edu 37 13 88330082 88330082 + Silent SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 13 88330082 88330082 G C SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.2439 p.L813 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 22 0 0 21 4 16 TEP1 0 genome.wustl.edu 37 14 20841456 20841456 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 14 20841456 20841456 G A SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.6787 p.R2263W 0.019 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 123 0 0 95 9 8.65385 SUPT16H 0 genome.wustl.edu 37 14 21829373 21829373 + Splice_Site SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 14 21829373 21829373 C T SNP SUPT16H ENST00000216297 human ensembl 74_37 -1 known splice_site c.1794-1 e16-1 1.000 - - - no_errors SUPT16H HGNC ENSG00000092201 97 0 0 57 25 30.4878 ACIN1 0 genome.wustl.edu 37 14 23531679 23531679 + Silent SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 14 23531679 23531679 G T SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known silent c.3111 p.T1037 0.977 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 326 0 0 251 55 17.9739 NFATC4 0 genome.wustl.edu 37 14 24842993 24842993 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 14 24842993 24842993 G A SNP NFATC4 ENST00000413692 human ensembl 74_37 +1 known missense c.1841 p.R614Q 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 112 1 0.884956 74 11 12.9412 FOXG1 0 genome.wustl.edu 37 14 29237640 29237640 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 14 29237640 29237640 C T SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known silent c.1155 p.A385 0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 43 0 0 26 13 33.3333 SNX6 0 genome.wustl.edu 37 14 35036958 35036958 + Silent SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 14 35036958 35036958 T C SNP SNX6 ENST00000362031 human ensembl 74_37 -1 known silent c.1137 p.T379 0.999 pfam_Vps5_C,pfam_BAR_dom,pirsf_Snx5_Snx6 pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX6 HGNC ENSG00000129515 43 0 0 37 7 15.9091 PELI2 0 genome.wustl.edu 37 14 56757161 56757161 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 14 56757161 56757161 A C SNP PELI2 ENST00000267460 human ensembl 74_37 +1 known missense c.683 p.Q228P 0.571 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI2 HGNC ENSG00000139946 109 0 0 91 30 24.7934 SLC38A6 0 genome.wustl.edu 37 14 61449344 61449344 + Missense_Mutation SNP T T G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 14 61449344 61449344 T G SNP SLC38A6 ENST00000354886 human ensembl 74_37 +1 known missense c.224 p.V75G 0.995 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A6 HGNC ENSG00000139974 108 1 0.917431 107 11 9.32203 ESR2 0 genome.wustl.edu 37 14 64699872 64699872 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 14 64699872 64699872 T A SNP ESR2 ENST00000341099 human ensembl 74_37 -1 known missense c.1576 p.N526Y 0.086 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,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 - no_errors ESR2 HGNC ENSG00000140009 71 0 0 54 20 27.027 RDH11 0 genome.wustl.edu 37 14 68159758 68159758 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 14 68159758 68159758 G T SNP RDH11 ENST00000381346 human ensembl 74_37 -1 known missense c.86 p.S29Y 0.167 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH11 HGNC ENSG00000072042 69 0 0 49 15 23.4375 DCAF4 0 genome.wustl.edu 37 14 73422256 73422256 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 14 73422256 73422256 G A SNP DCAF4 ENST00000358377 human ensembl 74_37 +1 known missense c.1031 p.R344H 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4 HGNC ENSG00000119599 216 0 0 191 58 23.2932 VRTN 0 genome.wustl.edu 37 14 74823592 74823592 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 14 74823592 74823592 C G SNP VRTN ENST00000256362 human ensembl 74_37 +1 known missense c.106 p.Q36E 0.995 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 59 0 0 60 26 30.2326 FLRT2 0 genome.wustl.edu 37 14 86088581 86088581 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 14 86088581 86088581 G A SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known silent c.723 p.S241 0.002 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 109 0 0 86 25 22.5225 SERPINA10 0 genome.wustl.edu 37 14 94756223 94756223 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 14 94756223 94756223 G C SNP SERPINA10 ENST00000261994 human ensembl 74_37 -1 known missense c.708 p.I236M 0.950 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA10 HGNC ENSG00000140093 52 0 0 52 11 17.4603 SNHG14 0 genome.wustl.edu 37 15 25490525 25490525 + RNA SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 25490525 25490525 G T SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 65 0 0 44 10 18.5185 ATP10A 0 genome.wustl.edu 37 15 25924798 25924798 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 25924798 25924798 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.4190 p.A1397V 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 49 0 0 39 11 22 ATP10A 0 genome.wustl.edu 37 15 25966922 25966922 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 25966922 25966922 C T SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known silent c.1245 p.T415 0.034 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase 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 151 0 0 81 39 32.5 TRPM1 0 genome.wustl.edu 37 15 31362292 31362292 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 31362292 31362292 G A SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.272 p.P91L 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 556 1 0.179533 352 166 32.0463 RYR3 0 genome.wustl.edu 37 15 34080419 34080419 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 34080419 34080419 T C SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.9590 p.V3197A 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 192 0 0 155 25 13.8889 RYR3 0 genome.wustl.edu 37 15 34080420 34080420 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 34080420 34080420 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.9591 p.V3197 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 194 0 0 153 26 14.5251 DISP2 0 genome.wustl.edu 37 15 40657356 40657356 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 40657356 40657356 C T SNP DISP2 ENST00000267889 human ensembl 74_37 +1 known missense c.728 p.S243F 0.000 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 153 0 0 109 19 14.8438 CASC5 0 genome.wustl.edu 37 15 40914168 40914168 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 40914168 40914168 G C SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.1784 p.G595A 0.064 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 56 0 0 47 3 6 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42138151 42138151 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 42138151 42138151 C T SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known silent c.2199 p.S733 1.000 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 63 0 0 45 12 21.0526 GLDN 0 genome.wustl.edu 37 15 51687079 51687079 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 51687079 51687079 G C SNP GLDN ENST00000335449 human ensembl 74_37 +1 known missense c.589 p.D197H 1.000 pfam_Collagen pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC ENSG00000186417 48 0 0 38 9 19.1489 CGNL1 0 genome.wustl.edu 37 15 57808977 57808977 + Splice_Site SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 57808977 57808977 G C SNP CGNL1 ENST00000281282 human ensembl 74_37 +1 known splice_site c.2404-1 e8-1 0.955 - - - no_errors CGNL1 HGNC ENSG00000128849 21 0 0 31 6 16.2162 CGNL1 0 genome.wustl.edu 37 15 57815798 57815798 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 57815798 57815798 C T SNP CGNL1 ENST00000281282 human ensembl 74_37 +1 known missense c.2827 p.R943W 1.000 prints_Tropomyosin pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 70 0 0 66 24 26.6667 APH1B 0 genome.wustl.edu 37 15 63571457 63571457 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 63571457 63571457 C G SNP APH1B ENST00000261879 human ensembl 74_37 +1 known missense c.211 p.L71V 0.996 pfam_Aph-1 pfam_Aph-1 - no_errors APH1B HGNC ENSG00000138613 112 0 0 105 32 23.3577 TRIP4 0 genome.wustl.edu 37 15 64686249 64686249 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 64686249 64686249 C A SNP TRIP4 ENST00000261884 human ensembl 74_37 +1 known missense c.206 p.T69N 0.813 NULL pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain - no_errors TRIP4 HGNC ENSG00000103671 46 0 0 39 8 17.0213 PIF1 0 genome.wustl.edu 37 15 65113607 65113607 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 65113607 65113607 C G SNP PIF1 ENST00000333425 human ensembl 74_37 -1 known missense c.930 p.M310I 1.000 pfam_DNA_helicase_Pif1,superfamily_P-loop_NTPase pfam_DNA_helicase_Pif1,pfam_DNA_helicase,superfamily_P-loop_NTPase - no_errors PIF1 HGNC ENSG00000140451 163 0 0 153 13 7.83133 IQCH 0 genome.wustl.edu 37 15 67768148 67768148 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 67768148 67768148 G A SNP IQCH ENST00000335894 human ensembl 74_37 +1 known missense c.2791 p.D931N 0.954 NULL superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 58 0 0 44 28 38.8889 THAP10 0 genome.wustl.edu 37 15 71174850 71174850 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 71174850 71174850 C A SNP THAP10 ENST00000249861 human ensembl 74_37 -1 known missense c.717 p.K239N 0.239 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP10 HGNC ENSG00000129028 166 0 0 102 79 43.6464 MAN2C1 0 genome.wustl.edu 37 15 75648717 75648717 + Silent SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 75648717 75648717 G C SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known silent c.2811 p.P937 0.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 28 0 0 19 8 29.6296 KIAA1199 0 genome.wustl.edu 37 15 81235367 81235367 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 81235367 81235367 C T SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.3781 p.H1261Y 0.966 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 416 0 0 384 45 10.4895 FSD2 0 genome.wustl.edu 37 15 83437669 83437669 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 83437669 83437669 T A SNP FSD2 ENST00000334574 human ensembl 74_37 -1 known missense c.1516 p.T506S 0.787 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD2 HGNC ENSG00000186628 20 0 0 21 4 16 NMB 0 genome.wustl.edu 37 15 85200517 85200517 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 85200517 85200517 G A SNP NMB ENST00000394588 human ensembl 74_37 -1 known missense c.220 p.H74Y 0.006 NULL pfam_Bombesin - no_errors NMB HGNC ENSG00000197696 18 0 0 5 7 58.3333 KLHL25 0 genome.wustl.edu 37 15 86311917 86311917 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 86311917 86311917 C T SNP KLHL25 ENST00000337975 human ensembl 74_37 -1 known silent c.1125 p.L375 0.803 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL25 HGNC ENSG00000183655 49 0 0 53 5 8.62069 ST8SIA2 0 genome.wustl.edu 37 15 93007443 93007443 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 15 93007443 93007443 C T SNP ST8SIA2 ENST00000268164 human ensembl 74_37 +1 known missense c.956 p.P319L 0.996 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA2 HGNC ENSG00000140557 75 0 0 43 42 49.4118 IFT140 0 genome.wustl.edu 37 16 1637198 1637198 + Splice_Site SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 1637198 1637198 C A SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known splice_site c.1009+1 e7+1 1.000 - - - no_errors IFT140 HGNC ENSG00000187535 78 0 0 68 18 20.9302 ACSM1 0 genome.wustl.edu 37 16 20693649 20693649 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 20693649 20693649 G A SNP ACSM1 ENST00000307493 human ensembl 74_37 -1 known silent c.540 p.P180 0.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM1 HGNC ENSG00000166743 57 0 0 55 18 24.6575 CASKIN1 0 genome.wustl.edu 37 16 2231826 2231826 + Nonsense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 2231826 2231826 C T SNP CASKIN1 ENST00000343516 human ensembl 74_37 -1 known nonsense c.1734 p.W578* 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 79 0 0 67 44 39.6396 AQP8 0 genome.wustl.edu 37 16 25238439 25238439 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 25238439 25238439 C T SNP AQP8 ENST00000219660 human ensembl 74_37 +1 known missense c.653 p.A218V 0.999 pfam_MIP,superfamily_Aquaporin-like pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP - no_errors AQP8 HGNC ENSG00000103375 62 0 0 56 5 8.19672 CLN3 0 genome.wustl.edu 37 16 28488892 28488892 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 28488892 28488892 G C SNP CLN3 ENST00000359984 human ensembl 74_37 -1 known missense c.1262 p.S421C 1.000 pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3 pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3 - no_errors CLN3 HGNC ENSG00000188603 74 0 0 64 25 28.0899 LOC101929906 0 genome.wustl.edu 37 16 30311210 30311210 + RNA SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 30311210 30311210 T C SNP LOC101929906 ENST00000411546 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors RP11-347C12.2 Clone_based_vega_gene ENSG00000183604 81 0 0 59 17 22.3684 RNF40 0 genome.wustl.edu 37 16 30783174 30783174 + Silent SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 30783174 30783174 G C SNP RNF40 ENST00000324685 human ensembl 74_37 +1 known silent c.2607 p.L869 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 89 0 0 74 15 16.8539 ARMC5 0 genome.wustl.edu 37 16 31475984 31475984 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 31475984 31475984 C G SNP ARMC5 ENST00000408912 human ensembl 74_37 +1 known missense c.1925 p.A642G 0.840 superfamily_ARM-type_fold superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like - no_errors ARMC5 HGNC ENSG00000140691 18 0 0 24 3 11.1111 ZNF213 0 genome.wustl.edu 37 16 3191066 3191066 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 3191066 3191066 G A SNP ZNF213 ENST00000396878 human ensembl 74_37 +1 known silent c.1098 p.V366 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF213 HGNC ENSG00000085644 31 0 0 38 9 19.1489 ZNF200 0 genome.wustl.edu 37 16 3282916 3282916 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 3282916 3282916 G A SNP ZNF200 ENST00000414144 human ensembl 74_37 -1 known missense c.256 p.P86S 0.012 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF200 HGNC ENSG00000010539 55 0 0 34 5 12.8205 GLYR1 0 genome.wustl.edu 37 16 4862095 4862095 + Missense_Mutation SNP A A G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 4862095 4862095 A G SNP GLYR1 ENST00000321919 human ensembl 74_37 -1 known missense c.1274 p.F425S 1.000 pfam_6PGDH_NADP-bd pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom - no_errors GLYR1 HGNC ENSG00000140632 59 0 0 36 22 37.931 HEATR3 0 genome.wustl.edu 37 16 50100171 50100171 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 50100171 50100171 G C SNP HEATR3 ENST00000285767 human ensembl 74_37 +1 known missense c.44 p.C15S 0.996 NULL superfamily_ARM-type_fold - no_errors HEATR3 HGNC ENSG00000155393 12 0 0 9 4 30.7692 SALL1 0 genome.wustl.edu 37 16 51174348 51174348 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 51174348 51174348 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known silent c.1785 p.S595 0.004 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 53 0 0 45 11 19.6429 CHD9 0 genome.wustl.edu 37 16 53190912 53190912 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 53190912 53190912 A C SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.911 p.D304A 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 106 0 0 87 34 28.0992 SLC12A3 0 genome.wustl.edu 37 16 56903669 56903669 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 56903669 56903669 G A SNP SLC12A3 ENST00000438926 human ensembl 74_37 +1 known silent c.534 p.S178 0.015 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC ENSG00000070915 63 0 0 39 17 30.3571 RRAD 0 genome.wustl.edu 37 16 66958847 66958847 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 66958847 66958847 G A SNP RRAD ENST00000299759 human ensembl 74_37 -1 known missense c.236 p.S79L 1.000 pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RRAD HGNC ENSG00000166592 17 0 0 11 5 31.25 EXOC3L1 0 genome.wustl.edu 37 16 67219060 67219060 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 67219060 67219060 G A SNP EXOC3L1 ENST00000314586 human ensembl 74_37 -1 known silent c.1728 p.R576 0.506 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L1 HGNC ENSG00000179044 55 0 0 50 7 12.2807 SLC9A5 0 genome.wustl.edu 37 16 67290884 67290884 + Silent SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 67290884 67290884 G C SNP SLC9A5 ENST00000299798 human ensembl 74_37 +1 known silent c.1203 p.V401 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 110 0 0 93 32 25.6 RLTPR 0 genome.wustl.edu 37 16 67681832 67681832 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 67681832 67681832 G C SNP RLTPR ENST00000334583 human ensembl 74_37 +1 known missense c.1042 p.G348R 0.999 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 29 0 0 23 4 14.8148 SF3B3 0 genome.wustl.edu 37 16 70575719 70575719 + Silent SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 70575719 70575719 T C SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known silent c.1215 p.S405 0.996 NULL pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 176 1 0.564972 125 41 24.6988 RHBDL1 0 genome.wustl.edu 37 16 727688 727688 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 727688 727688 C A SNP RHBDL1 ENST00000219551 human ensembl 74_37 +1 known missense c.1034 p.A345D 1.000 pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met - no_errors RHBDL1 HGNC ENSG00000103269 51 0 0 35 9 20.4545 ZFHX3 0 genome.wustl.edu 37 16 72992656 72992656 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 72992656 72992656 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.1389 p.A463 0.580 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 61 0 0 56 10 15.1515 RBFOX1 0 genome.wustl.edu 37 16 7568333 7568333 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 7568333 7568333 C T SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known missense c.341 p.T114M 1.000 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 163 0 0 158 37 18.9744 SLC7A5 0 genome.wustl.edu 37 16 87866582 87866582 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 87866582 87866582 C G SNP SLC7A5 ENST00000261622 human ensembl 74_37 -1 known missense c.1518 p.E506D 0.997 NULL pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A5 HGNC ENSG00000103257 227 0 0 150 55 26.8293 GRIN2A 0 genome.wustl.edu 37 16 9858092 9858092 + Silent SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 16 9858092 9858092 G T SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known silent c.3309 p.R1103 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 167 0 0 162 42 20.5882 MYH13 0 genome.wustl.edu 37 17 10227552 10227552 + Silent SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 10227552 10227552 T C SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known silent c.2721 p.E907 0.990 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 97 0 0 65 22 25.2874 MYH4 0 genome.wustl.edu 37 17 10355590 10355590 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 10355590 10355590 C A SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.3406 p.A1136S 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 125 0 0 102 16 13.5593 MYH2 0 genome.wustl.edu 37 17 10435038 10435038 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 10435038 10435038 G T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.2609 p.A870D 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 141 0 0 97 16 14.1593 NCOR1 0 genome.wustl.edu 37 17 16040688 16040688 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 16040688 16040688 C A SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.1446 p.K482N 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 38 0 0 31 12 27.907 EVPLL 0 genome.wustl.edu 37 17 18284812 18284812 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 18284812 18284812 G A SNP EVPLL ENST00000399134 human ensembl 74_37 +1 novel silent c.195 p.P65 0.990 NULL NULL - no_errors EVPLL HGNC ENSG00000214860 41 0 0 30 4 11.7647 SLC13A2 0 genome.wustl.edu 37 17 26817363 26817363 + Silent SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 26817363 26817363 A T SNP SLC13A2 ENST00000444914 human ensembl 74_37 +1 known silent c.270 p.P90 0.466 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 113 0 0 78 30 27.7778 ABHD15 0 genome.wustl.edu 37 17 27893668 27893668 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 27893668 27893668 A C SNP ABHD15 ENST00000307201 human ensembl 74_37 -1 known missense c.317 p.L106R 1.000 pirsf_AB-Hydro_YheT pirsf_AB-Hydro_YheT - no_errors ABHD15 HGNC ENSG00000168792 22 0 0 17 5 22.7273 CPD 0 genome.wustl.edu 37 17 28783287 28783287 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 28783287 28783287 G A SNP CPD ENST00000225719 human ensembl 74_37 +1 known silent c.3351 p.E1117 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 66 0 0 56 24 30 ATAD5 0 genome.wustl.edu 37 17 29161318 29161318 + Missense_Mutation SNP T T G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 29161318 29161318 T G SNP ATAD5 ENST00000321990 human ensembl 74_37 +1 known missense c.219 p.N73K 0.742 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 76 0 0 70 9 11.3924 TMEM98 0 genome.wustl.edu 37 17 31266499 31266499 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 31266499 31266499 G T SNP TMEM98 ENST00000394642 human ensembl 74_37 +1 known missense c.418 p.D140Y 1.000 NULL NULL - no_errors TMEM98 HGNC ENSG00000006042 80 0 0 50 15 23.0769 LIG3 0 genome.wustl.edu 37 17 33328293 33328293 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 33328293 33328293 G T SNP LIG3 ENST00000378526 human ensembl 74_37 +1 known missense c.2349 p.E783D 1.000 pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 49 0 0 39 10 20.4082 RFFL 0 genome.wustl.edu 37 17 33348714 33348714 + Silent SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 33348714 33348714 T C SNP RFFL ENST00000315249 human ensembl 74_37 -1 known silent c.267 p.Q89 1.000 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RFFL HGNC ENSG00000092871 110 0 0 81 33 28.9474 GGNBP2 0 genome.wustl.edu 37 17 34935804 34935804 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 34935804 34935804 G A SNP GGNBP2 ENST00000304718 human ensembl 74_37 +1 known silent c.975 p.Q325 1.000 NULL NULL - no_errors GGNBP2 HGNC ENSG00000005955 191 0 0 135 48 26.2295 SRCIN1 0 genome.wustl.edu 37 17 36717698 36717698 + Splice_Site SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 36717698 36717698 C G SNP SRCIN1 ENST00000264659 human ensembl 74_37 -1 known splice_site c.1700+1 e7+1 1.000 - - - no_errors SRCIN1 HGNC ENSG00000017373 19 0 0 12 5 29.4118 GRB7 0 genome.wustl.edu 37 17 37899172 37899172 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 37899172 37899172 G A SNP GRB7 ENST00000445327 human ensembl 74_37 +1 known missense c.397 p.D133N 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB7 HGNC ENSG00000141738 91 0 0 77 31 28.7037 KRT27 0 genome.wustl.edu 37 17 38938687 38938687 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 38938687 38938687 G C SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known missense c.59 p.S20C 0.790 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 21 0 0 7 7 50 KRT12 0 genome.wustl.edu 37 17 39019999 39019999 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 39019999 39019999 C T SNP KRT12 ENST00000251643 human ensembl 74_37 -1 known missense c.925 p.A309T 0.126 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT12 HGNC ENSG00000187242 49 0 0 49 18 26.8657 KRT37 0 genome.wustl.edu 37 17 39578678 39578678 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 39578678 39578678 C A SNP KRT37 ENST00000225550 human ensembl 74_37 -1 known missense c.741 p.K247N 0.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT37 HGNC ENSG00000108417 159 0 0 114 60 34.4828 KRT38 0 genome.wustl.edu 37 17 39596900 39596900 + Missense_Mutation SNP A A G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 39596900 39596900 A G SNP KRT38 ENST00000246646 human ensembl 74_37 -1 known missense c.274 p.C92R 0.013 NULL pfam_IF,prints_Keratin_I - no_errors KRT38 HGNC ENSG00000171360 108 0 0 59 28 32.1839 KRT36 0 genome.wustl.edu 37 17 39643923 39643923 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 39643923 39643923 C G SNP KRT36 ENST00000328119 human ensembl 74_37 -1 known missense c.766 p.V256L 0.039 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT36 HGNC ENSG00000126337 144 0 0 125 16 11.3475 KCNH4 0 genome.wustl.edu 37 17 40321495 40321495 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 40321495 40321495 C T SNP KCNH4 ENST00000264661 human ensembl 74_37 -1 known silent c.1590 p.E530 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 41 0 0 53 18 25.3521 ATP6V0A1 0 genome.wustl.edu 37 17 40639384 40639384 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 40639384 40639384 C A SNP ATP6V0A1 ENST00000264649 human ensembl 74_37 +1 known missense c.1043 p.T348K 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A1 HGNC ENSG00000033627 54 0 0 77 9 10.4651 CNTNAP1 0 genome.wustl.edu 37 17 40839832 40839832 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 40839832 40839832 G A SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known missense c.1139 p.R380H 0.832 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 97 0 0 71 24 25.2632 CNTNAP1 0 genome.wustl.edu 37 17 40840604 40840604 + Silent SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 40840604 40840604 G C SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known silent c.1431 p.R477 0.021 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 81 0 0 62 23 27.0588 DHX8 0 genome.wustl.edu 37 17 41584565 41584565 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 41584565 41584565 G A SNP DHX8 ENST00000262415 human ensembl 74_37 +1 known silent c.1923 p.E641 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 87 0 0 76 38 33.3333 ZMYND15 0 genome.wustl.edu 37 17 4648177 4648177 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 4648177 4648177 G C SNP ZMYND15 ENST00000433935 human ensembl 74_37 +1 known missense c.1850 p.G617A 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND15 HGNC ENSG00000141497 199 0 0 107 14 11.5702 SCPEP1 0 genome.wustl.edu 37 17 55062741 55062741 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 55062741 55062741 C T SNP SCPEP1 ENST00000575423 human ensembl 74_37 +1 known missense c.193 p.R65W 0.821 NULL NULL - no_errors SCPEP1 HGNC ENSG00000121064 111 0 0 104 10 8.77193 MTMR4 0 genome.wustl.edu 37 17 56581218 56581218 + Nonsense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 56581218 56581218 C T SNP MTMR4 ENST00000323456 human ensembl 74_37 -1 known nonsense c.1698 p.W566* 1.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR4 HGNC ENSG00000108389 258 0 0 303 29 8.73494 TEX14 0 genome.wustl.edu 37 17 56676672 56676672 + Silent SNP A A G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 56676672 56676672 A G SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known silent c.2052 p.D684 0.000 NULL 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 - no_errors TEX14 HGNC ENSG00000121101 141 0 0 171 16 8.55615 DHX40 0 genome.wustl.edu 37 17 57684433 57684433 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 57684433 57684433 G C SNP DHX40 ENST00000251241 human ensembl 74_37 +1 known missense c.2240 p.R747T 1.000 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX40 HGNC ENSG00000108406 96 0 0 128 32 20 USP32 0 genome.wustl.edu 37 17 58258984 58258984 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 58258984 58258984 T C SNP USP32 ENST00000300896 human ensembl 74_37 -1 known missense c.4249 p.K1417E 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 57 0 0 71 5 6.57895 MED13 0 genome.wustl.edu 37 17 60129928 60129928 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 60129928 60129928 T C SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.440 p.Y147C 1.000 pfam_Mediator_Med13_N_met/fun pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 144 0 0 175 16 8.37696 FTSJ3 0 genome.wustl.edu 37 17 61897523 61897523 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 61897523 61897523 C G SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known missense c.2267 p.R756T 1.000 pfam_rRNA_MeTfrase_Spb1_C pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 142 0 0 108 37 25.5172 GH2 0 genome.wustl.edu 37 17 61958081 61958081 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 61958081 61958081 C G SNP GH2 ENST00000332800 human ensembl 74_37 -1 known missense c.507 p.R169S 0.013 NULL pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH2 HGNC ENSG00000136487 134 0 0 125 40 24.2424 SCN4A 0 genome.wustl.edu 37 17 62020205 62020205 + Silent SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 62020205 62020205 G C SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known silent c.4269 p.V1423 0.988 pfam_Ion_trans_dom,prints_PKD_2 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 34 0 0 45 6 11.7647 ERN1 0 genome.wustl.edu 37 17 62125323 62125323 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 62125323 62125323 C G SNP ERN1 ENST00000433197 human ensembl 74_37 -1 known missense c.2424 p.L808F 0.955 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_KEN_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN1 HGNC ENSG00000178607 38 0 0 38 14 26.9231 LRRC37A3 0 genome.wustl.edu 37 17 62893266 62893266 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 62893266 62893266 G C SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known missense c.110 p.A37G 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 117 0 0 145 15 9.375 PITPNC1 0 genome.wustl.edu 37 17 65548449 65548449 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 65548449 65548449 T C SNP PITPNC1 ENST00000335257 human ensembl 74_37 +1 known missense c.274 p.Y92H 1.000 pfam_PI_transfer,prints_PI_transfer pfam_PI_transfer,prints_PI_transfer - no_errors PITPNC1 HGNC ENSG00000154217 99 0 0 89 54 37.7622 C17orf58 0 genome.wustl.edu 37 17 65989053 65989053 + Silent SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 65989053 65989053 T A SNP C17orf58 ENST00000334461 human ensembl 74_37 -1 known silent c.210 p.R70 0.004 NULL NULL - no_errors C17orf58 HGNC ENSG00000186665 51 0 0 79 19 19.3878 MAP2K6 0 genome.wustl.edu 37 17 67519748 67519748 + Missense_Mutation SNP A A G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 67519748 67519748 A G SNP MAP2K6 ENST00000590474 human ensembl 74_37 +1 known missense c.629 p.K210R 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 MAP2K6 HGNC ENSG00000108984 185 0 0 256 35 12.0275 SLC2A4 0 genome.wustl.edu 37 17 7187687 7187687 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 7187687 7187687 C T SNP SLC2A4 ENST00000317370 human ensembl 74_37 +1 known missense c.716 p.P239L 0.952 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_4,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A4 HGNC ENSG00000181856 55 0 0 23 3 11.5385 NLGN2 0 genome.wustl.edu 37 17 7317669 7317669 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 7317669 7317669 G A SNP NLGN2 ENST00000302926 human ensembl 74_37 +1 known missense c.515 p.R172H 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN2 HGNC ENSG00000169992 43 0 0 14 9 39.1304 WRAP53 0 genome.wustl.edu 37 17 7604143 7604143 + Missense_Mutation SNP T T G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 7604143 7604143 T G SNP WRAP53 ENST00000316024 human ensembl 74_37 +1 known missense c.727 p.S243A 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 92 0 0 73 7 8.75 DNAH17 0 genome.wustl.edu 37 17 76503864 76503864 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 76503864 76503864 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known silent c.4248 p.T1416 1.000 pfam_Dynein_heavy_dom-2 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 10 0 0 9 7 43.75 DNAH17 0 genome.wustl.edu 37 17 76557965 76557965 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 76557965 76557965 A C SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.1667 p.L556R 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 43 0 0 41 7 14.5833 DNAH2 0 genome.wustl.edu 37 17 7705023 7705023 + Nonsense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 7705023 7705023 G T SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known nonsense c.8827 p.E2943* 0.997 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 73 0 0 49 7 12.5 PYCR1 0 genome.wustl.edu 37 17 79894654 79894654 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 79894654 79894654 A C SNP PYCR1 ENST00000329875 human ensembl 74_37 -1 known missense c.37 p.F13V 1.000 pfam_G3P_DH_NAD-dep_N,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCR1 HGNC ENSG00000183010 24 0 0 11 6 35.2941 CDH2 0 genome.wustl.edu 37 18 25583075 25583075 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 18 25583075 25583075 C T SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known silent c.906 p.G302 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 77 0 0 50 8 13.7931 SMCHD1 0 genome.wustl.edu 37 18 2674039 2674039 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 18 2674039 2674039 C G SNP SMCHD1 ENST00000320876 human ensembl 74_37 +1 known missense c.533 p.P178R 1.000 superfamily_HATPase_ATP-bd pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 23 0 0 8 3 27.2727 FHOD3 0 genome.wustl.edu 37 18 34192035 34192035 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 18 34192035 34192035 G A SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.934 p.V312M 0.998 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 95 0 0 53 10 15.873 EPB41L3 0 genome.wustl.edu 37 18 5489161 5489161 + Splice_Site SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 18 5489161 5489161 C A SNP EPB41L3 ENST00000545076 human ensembl 74_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors EPB41L3 HGNC ENSG00000082397 57 0 0 46 9 16.3636 RTTN 0 genome.wustl.edu 37 18 67871435 67871435 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 18 67871435 67871435 G C SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.284 p.S95C 0.787 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 104 0 0 83 10 10.7527 CACNA1A 0 genome.wustl.edu 37 19 13397751 13397751 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 13397751 13397751 G A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.3119 p.S1040L 0.838 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 46 0 0 56 20 26.3158 NOTCH3 0 genome.wustl.edu 37 19 15302590 15302590 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 15302590 15302590 G A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known silent c.768 p.N256 1.000 pirsf_Notch,pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 40 0 0 48 13 21.3115 CYP4F8 0 genome.wustl.edu 37 19 15730504 15730504 + RNA SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 15730504 15730504 C A SNP CYP4F8 ENST00000441682 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CYP4F8 HGNC ENSG00000186526 41 0 0 46 15 24.5902 JAK3 0 genome.wustl.edu 37 19 17952465 17952465 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 17952465 17952465 G C SNP JAK3 ENST00000458235 human ensembl 74_37 -1 known missense c.968 p.T323R 0.519 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 40 0 0 50 7 12.2807 UPF1 0 genome.wustl.edu 37 19 18971148 18971148 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 18971148 18971148 G C SNP UPF1 ENST00000599848 human ensembl 74_37 +1 known missense c.2234 p.G745A 1.000 superfamily_P-loop_NTPase pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase - no_errors UPF1 HGNC ENSG00000005007 167 0 0 155 49 24.0196 LMNB2 0 genome.wustl.edu 37 19 2433911 2433911 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 2433911 2433911 G A SNP LMNB2 ENST00000325327 human ensembl 74_37 -1 known silent c.1395 p.A465 0.744 pfam_Lamin_tail_dom pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNB2 HGNC ENSG00000176619 61 0 0 57 11 16.1765 KIAA0355 0 genome.wustl.edu 37 19 34842423 34842423 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 34842423 34842423 C G SNP KIAA0355 ENST00000299505 human ensembl 74_37 +1 known missense c.2830 p.H944D 1.000 NULL NULL - no_errors KIAA0355 HGNC ENSG00000166398 60 0 0 47 7 12.963 FZR1 0 genome.wustl.edu 37 19 3525967 3525967 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 3525967 3525967 G C SNP FZR1 ENST00000395095 human ensembl 74_37 +1 known missense c.171 p.W57C 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FZR1 HGNC ENSG00000105325 19 0 0 21 7 25 RASGRP4 0 genome.wustl.edu 37 19 38912651 38912651 + Missense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 38912651 38912651 A T SNP RASGRP4 ENST00000587738 human ensembl 74_37 -1 known missense c.166 p.C56S 1.000 superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC ENSG00000171777 28 0 0 25 3 10.7143 RYR1 0 genome.wustl.edu 37 19 39068820 39068820 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 39068820 39068820 G C SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.14340 p.K4780N 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 30 0 0 18 6 25 SPTBN4 0 genome.wustl.edu 37 19 41009992 41009992 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 41009992 41009992 G T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.1618 p.V540F 0.997 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 90 0 0 89 6 6.31579 AXL 0 genome.wustl.edu 37 19 41726605 41726605 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 41726605 41726605 C T SNP AXL ENST00000301178 human ensembl 74_37 +1 known silent c.150 p.L50 0.012 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 23 0 0 10 7 41.1765 CEACAM21 0 genome.wustl.edu 37 19 42085888 42085888 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 42085888 42085888 C A SNP CEACAM21 ENST00000401445 human ensembl 74_37 +1 known missense c.607 p.P203T 0.000 pfam_Ig_V-set,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_sub2,pfscan_Ig-like_dom - no_errors CEACAM21 HGNC ENSG00000007129 25 0 0 22 5 18.5185 ZNF404 0 genome.wustl.edu 37 19 44378005 44378005 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 44378005 44378005 G A SNP ZNF404 ENST00000587539 human ensembl 74_37 -1 known missense c.361 p.H121Y 0.815 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF404 HGNC ENSG00000176222 202 0 0 167 57 25.4464 UBXN6 0 genome.wustl.edu 37 19 4446345 4446345 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 4446345 4446345 C T SNP UBXN6 ENST00000301281 human ensembl 74_37 -1 known missense c.986 p.R329Q 1.000 smart_UBX pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX - no_errors UBXN6 HGNC ENSG00000167671 8 0 0 6 6 50 IGFL4 0 genome.wustl.edu 37 19 46543422 46543422 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 46543422 46543422 C G SNP IGFL4 ENST00000377697 human ensembl 74_37 -1 known missense c.323 p.C108S 0.202 NULL NULL - no_errors IGFL4 HGNC ENSG00000204869 114 1 0.869565 127 11 7.97101 IGFL2 0 genome.wustl.edu 37 19 46664038 46664038 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 46664038 46664038 C A SNP IGFL2 ENST00000434646 human ensembl 74_37 +1 known missense c.274 p.L92I 0.187 NULL NULL - no_errors IGFL2 HGNC ENSG00000204866 294 0 0 282 39 12.1495 PPP5C 0 genome.wustl.edu 37 19 46893354 46893354 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 46893354 46893354 G A SNP PPP5C ENST00000012443 human ensembl 74_37 +1 known missense c.1402 p.D468N 1.000 smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5 pfam_PEstase_dom,pfam_PPP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC ENSG00000011485 102 0 0 71 19 21.1111 TICAM1 0 genome.wustl.edu 37 19 4818286 4818286 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 4818286 4818286 G C SNP TICAM1 ENST00000248244 human ensembl 74_37 -1 known missense c.104 p.P35R 0.000 pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 45 0 0 49 9 15.5172 GYS1 0 genome.wustl.edu 37 19 49477581 49477581 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 49477581 49477581 C G SNP GYS1 ENST00000323798 human ensembl 74_37 -1 known missense c.1438 p.E480Q 1.000 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC ENSG00000104812 41 0 0 21 11 34.375 NR1H2 0 genome.wustl.edu 37 19 50883102 50883102 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 50883102 50883102 C T SNP NR1H2 ENST00000253727 human ensembl 74_37 +1 known silent c.993 p.D331 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Liver_X_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC ENSG00000131408 63 0 0 58 8 12.1212 SIGLECL1 0 genome.wustl.edu 37 19 51770751 51770751 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 51770751 51770751 G A SNP SIGLECL1 ENST00000316401 human ensembl 74_37 +1 known missense c.535 p.V179I 0.003 NULL NULL - no_errors SIGLECL1 HGNC ENSG00000179213 138 0 0 93 35 27.3438 PTPRS 0 genome.wustl.edu 37 19 5244018 5244018 + Silent SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 5244018 5244018 C A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known silent c.1467 p.V489 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 63 0 0 33 22 40 ZIM2 0 genome.wustl.edu 37 19 57286491 57286491 + Silent SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 57286491 57286491 A C SNP ZIM2 ENST00000221722 human ensembl 74_37 -1 known silent c.1149 p.T383 0.000 pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ENSG00000269699 85 0 0 62 23 27.0588 TNFSF9 0 genome.wustl.edu 37 19 6535071 6535071 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 6535071 6535071 G A SNP TNFSF9 ENST00000245817 human ensembl 74_37 +1 known silent c.759 p.S253 0.000 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom - no_errors TNFSF9 HGNC ENSG00000125657 18 0 0 18 5 21.7391 ADAMTS10 0 genome.wustl.edu 37 19 8661972 8661972 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 8661972 8661972 G C SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known missense c.939 p.S313R 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 92 0 0 107 35 24.6479 PIN1 0 genome.wustl.edu 37 19 9959825 9959825 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 19 9959825 9959825 G C SNP PIN1 ENST00000247970 human ensembl 74_37 +1 known missense c.442 p.G148R 1.000 pfam_PPIase_PpiC,pfscan_PPIase_PpiC pfam_PPIase_PpiC,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,pfscan_PPIase_PpiC - no_errors PIN1 HGNC ENSG00000127445 38 0 0 14 8 36.3636 SLC9A2 0 genome.wustl.edu 37 2 103281631 103281631 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 103281631 103281631 G A SNP SLC9A2 ENST00000233969 human ensembl 74_37 +1 known missense c.826 p.A276T 0.997 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 175 0 0 155 17 9.88372 POU3F3 0 genome.wustl.edu 37 2 105472909 105472909 + Missense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 105472909 105472909 A T SNP POU3F3 ENST00000361360 human ensembl 74_37 +1 known missense c.941 p.E314V 1.000 smart_POU_specific,pirsf_Transcription_factor_POU,pfscan_POU_specific pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F3 HGNC ENSG00000198914 23 0 0 16 5 23.8095 MARCO 0 genome.wustl.edu 37 2 119735455 119735455 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 119735455 119735455 T A SNP MARCO ENST00000327097 human ensembl 74_37 +1 known missense c.710 p.I237N 0.027 NULL pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 20 0 0 18 7 28 TMEM177 0 genome.wustl.edu 37 2 120439105 120439105 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 120439105 120439105 G T SNP TMEM177 ENST00000272521 human ensembl 74_37 +1 known missense c.676 p.A226S 0.982 NULL NULL - no_errors TMEM177 HGNC ENSG00000144120 70 0 0 57 19 25 GLI2 0 genome.wustl.edu 37 2 121736059 121736059 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 121736059 121736059 G A SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.1418 p.R473H 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 175 0 0 149 58 28.0193 MYO7B 0 genome.wustl.edu 37 2 128351207 128351207 + Missense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 128351207 128351207 A T SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.2232 p.K744N 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 109 0 0 87 34 28.0992 SMPD4 0 genome.wustl.edu 37 2 130918787 130918787 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 130918787 130918787 G C SNP SMPD4 ENST00000409031 human ensembl 74_37 -1 known missense c.1040 p.P347R 1.000 NULL NULL - no_errors SMPD4 HGNC ENSG00000136699 108 0 0 76 12 13.6364 THSD7B 0 genome.wustl.edu 37 2 137814637 137814637 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 137814637 137814637 G A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.787 p.G263R 0.910 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 149 0 0 123 49 28.4884 PRPF40A 0 genome.wustl.edu 37 2 153526775 153526775 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 153526775 153526775 G T SNP PRPF40A ENST00000410080 human ensembl 74_37 -1 known missense c.1600 p.P534T 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom,prints_Antifreeze_1 - no_errors PRPF40A HGNC ENSG00000196504 33 0 0 65 5 7.14286 DPP4 0 genome.wustl.edu 37 2 162873627 162873627 + Missense_Mutation SNP T T G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 162873627 162873627 T G SNP DPP4 ENST00000360534 human ensembl 74_37 -1 known missense c.1459 p.N487H 0.003 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC ENSG00000197635 27 0 0 36 4 10 SCN1A 0 genome.wustl.edu 37 2 166848165 166848165 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 166848165 166848165 G A SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.5620 p.R1874W 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 105 0 0 106 39 26.8966 SCN1A 0 genome.wustl.edu 37 2 166903449 166903449 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 166903449 166903449 A C SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.1208 p.F403C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 123 0 0 96 28 22.5806 KLHL41 0 genome.wustl.edu 37 2 170366566 170366566 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 170366566 170366566 C G SNP KLHL41 ENST00000284669 human ensembl 74_37 +1 known missense c.278 p.S93C 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL41 HGNC ENSG00000239474 124 0 0 115 61 34.6591 UBR3 0 genome.wustl.edu 37 2 170863659 170863659 + Nonsense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 170863659 170863659 A T SNP UBR3 ENST00000272793 human ensembl 74_37 +1 known nonsense c.4189 p.K1397* 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 23 0 0 23 5 17.8571 CYBRD1 0 genome.wustl.edu 37 2 172398199 172398199 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 172398199 172398199 T A SNP CYBRD1 ENST00000321348 human ensembl 74_37 +1 known missense c.298 p.S100T 0.001 pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors CYBRD1 HGNC ENSG00000071967 90 0 0 119 20 14.3885 TTN 0 genome.wustl.edu 37 2 179414985 179414985 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 179414985 179414985 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.83876 p.E27959G 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 104 0 0 95 22 18.8034 TTN 0 genome.wustl.edu 37 2 179569607 179569607 + Silent SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 179569607 179569607 T A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.25959 p.T8653 0.726 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 187 0 0 146 75 33.9367 TTN 0 genome.wustl.edu 37 2 179594203 179594203 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 179594203 179594203 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.14948 p.P4983L 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 120 0 0 124 25 16.7785 PPP1R1C 0 genome.wustl.edu 37 2 182850902 182850902 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 182850902 182850902 C T SNP PPP1R1C ENST00000409137 human ensembl 74_37 +1 known missense c.65 p.P22L 0.994 pfam_PPI_1DARPP-32 pfam_PPI_1DARPP-32 - no_errors PPP1R1C HGNC ENSG00000150722 135 0 0 150 16 9.63855 DNAJC10 0 genome.wustl.edu 37 2 183623585 183623585 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 183623585 183623585 G A SNP DNAJC10 ENST00000264065 human ensembl 74_37 +1 known silent c.1965 p.R655 0.998 pirsf_DnaJ_homolog_subfam-C pfam_Thioredoxin_domain,pfam_DnaJ_domain,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_domain,smart_DnaJ_domain,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_domain,prints_DnaJ_domain,prints_Thioredoxin - no_errors DNAJC10 HGNC ENSG00000077232 94 0 0 91 24 20.8696 TFPI 0 genome.wustl.edu 37 2 188332507 188332507 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 188332507 188332507 G C SNP TFPI ENST00000233156 human ensembl 74_37 -1 known missense c.781 p.Q261E 0.016 pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI HGNC ENSG00000003436 122 0 0 118 9 7.08661 DNAH7 0 genome.wustl.edu 37 2 196750979 196750979 + Silent SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 196750979 196750979 G T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known silent c.5424 p.S1808 0.877 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 61 0 0 40 23 36.5079 CPO 0 genome.wustl.edu 37 2 207820236 207820236 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 207820236 207820236 C A SNP CPO ENST00000272852 human ensembl 74_37 +1 known missense c.215 p.T72K 0.999 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPO HGNC ENSG00000144410 114 0 0 89 20 18.3486 APOB 0 genome.wustl.edu 37 2 21228333 21228333 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 21228333 21228333 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.11407 p.P3803S 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 121 1 0.819672 123 43 25.9036 VWC2L 0 genome.wustl.edu 37 2 215279274 215279274 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 215279274 215279274 C T SNP VWC2L ENST00000312504 human ensembl 74_37 +1 known silent c.357 p.H119 1.000 smart_VWF_C,pfscan_VWF_C smart_VWF_C,pfscan_VWF_C - no_errors VWC2L HGNC ENSG00000174453 41 0 0 25 7 21.875 ABCA12 0 genome.wustl.edu 37 2 215821416 215821416 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 215821416 215821416 G A SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.6204 p.G2068 0.005 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 124 0 0 82 17 17.1717 ABCA12 0 genome.wustl.edu 37 2 215839501 215839501 + Splice_Site SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 215839501 215839501 C A SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known splice_site c.5468+1 e35+1 0.997 - - - no_errors ABCA12 HGNC ENSG00000144452 117 0 0 110 30 21.4286 SPEG 0 genome.wustl.edu 37 2 220357372 220357372 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 220357372 220357372 T A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.9668 p.L3223Q 1.000 superfamily_Kinase-like_dom 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 99 0 0 92 20 17.8571 CCDC140 0 genome.wustl.edu 37 2 223168875 223168875 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 223168875 223168875 T A SNP CCDC140 ENST00000295226 human ensembl 74_37 +1 known missense c.254 p.L85Q 0.000 NULL NULL - no_errors CCDC140 HGNC ENSG00000163081 35 0 0 26 13 33.3333 NYAP2 0 genome.wustl.edu 37 2 226447157 226447157 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 226447157 226447157 G A SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.1024 p.A342T 0.942 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 28 0 0 20 4 16.6667 SLC19A3 0 genome.wustl.edu 37 2 228563524 228563524 + Missense_Mutation SNP A A G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 228563524 228563524 A G SNP SLC19A3 ENST00000258403 human ensembl 74_37 -1 known missense c.907 p.W303R 1.000 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 92 0 0 87 20 18.6916 DAW1 0 genome.wustl.edu 37 2 228788658 228788658 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 228788658 228788658 G T SNP DAW1 ENST00000309931 human ensembl 74_37 +1 known missense c.1222 p.D408Y 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors DAW1 HGNC ENSG00000123977 26 0 0 27 3 10 DNER 0 genome.wustl.edu 37 2 230231600 230231600 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 230231600 230231600 G A SNP DNER ENST00000341772 human ensembl 74_37 -1 known silent c.2091 p.I697 1.000 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 111 0 0 78 20 20.4082 EFHD1 0 genome.wustl.edu 37 2 233527521 233527521 + Silent SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 233527521 233527521 T C SNP EFHD1 ENST00000264059 human ensembl 74_37 +1 known silent c.312 p.A104 0.441 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHD1 HGNC ENSG00000115468 75 0 0 53 11 17.1875 GPR113 0 genome.wustl.edu 37 2 26536310 26536310 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 26536310 26536310 C T SNP GPR113 ENST00000333478 human ensembl 74_37 -1 known missense c.811 p.V271I 0.000 pfam_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 23 0 0 13 3 18.75 VIT 0 genome.wustl.edu 37 2 37041500 37041500 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 37041500 37041500 A C SNP VIT ENST00000379242 human ensembl 74_37 +1 known missense c.2078 p.N693T 1.000 NULL pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 68 0 0 53 20 27.3973 FSHR 0 genome.wustl.edu 37 2 49210097 49210097 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 49210097 49210097 C T SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.622 p.E208K 1.000 pfam_Leu-rich_rpt,prints_FSH_rcpt,prints_TSH_rcpt pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 38 0 0 26 3 10.3448 RPS27A 0 genome.wustl.edu 37 2 55461288 55461288 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 55461288 55461288 C T SNP RPS27A ENST00000272317 human ensembl 74_37 +1 known missense c.137 p.A46V 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin pfam_Ubiquitin_dom,pfam_Ribosomal_S27a,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors RPS27A HGNC ENSG00000143947 79 0 0 63 31 32.9787 CCDC88A 0 genome.wustl.edu 37 2 55615954 55615954 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 55615954 55615954 T C SNP CCDC88A ENST00000436346 human ensembl 74_37 -1 known missense c.233 p.N78S 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 117 0 0 84 34 28.8136 ENSG00000273398 0 genome.wustl.edu 37 2 68384612 68384612 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 68384612 68384612 C G SNP ENSG00000273398 ENST00000406334 human ensembl 74_37 -1 known missense c.977 p.W326S 0.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RP11-474G23.1 Clone_based_vega_gene ENSG00000273398 38 0 0 29 13 30.9524 ACTG2 0 genome.wustl.edu 37 2 74141874 74141874 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 74141874 74141874 G C SNP ACTG2 ENST00000345517 human ensembl 74_37 +1 known missense c.681 p.E227D 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTG2 HGNC ENSG00000163017 69 0 0 54 14 20.5882 CCDC142 0 genome.wustl.edu 37 2 74702165 74702165 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 74702165 74702165 G A SNP CCDC142 ENST00000393965 human ensembl 74_37 -1 known missense c.1874 p.S625F 0.845 NULL NULL - no_errors CCDC142 HGNC ENSG00000135637 129 0 0 94 41 30.3704 HTRA2 0 genome.wustl.edu 37 2 74757811 74757811 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 74757811 74757811 C A SNP HTRA2 ENST00000258080 human ensembl 74_37 +1 known missense c.574 p.L192I 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,prints_Peptidase_S1C pfam_Peptidase_S1,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA2 HGNC ENSG00000115317 66 0 0 50 11 18.0328 CTNNA2 0 genome.wustl.edu 37 2 80101243 80101243 + Silent SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 80101243 80101243 C A SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known silent c.729 p.A243 0.997 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 36 0 0 40 4 9.09091 KCNIP3 0 genome.wustl.edu 37 2 96040133 96040133 + Missense_Mutation SNP A A G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 96040133 96040133 A G SNP KCNIP3 ENST00000295225 human ensembl 74_37 +1 known missense c.271 p.K91E 1.000 prints_Recoverin pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP3 HGNC ENSG00000115041 44 0 0 49 11 18.3333 VWA3B 0 genome.wustl.edu 37 2 98797602 98797602 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 98797602 98797602 G T SNP VWA3B ENST00000477737 human ensembl 74_37 +1 known missense c.1238 p.C413F 0.999 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 113 1 0.877193 97 34 25.9542 CNGA3 0 genome.wustl.edu 37 2 99012681 99012681 + Missense_Mutation SNP A A G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 99012681 99012681 A G SNP CNGA3 ENST00000272602 human ensembl 74_37 +1 known missense c.1048 p.R350G 0.953 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 115 0 0 104 15 12.605 PCSK2 0 genome.wustl.edu 37 20 17462751 17462751 + RNA SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 20 17462751 17462751 C G SNP PCSK2 ENST00000459871 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PCSK2 HGNC ENSG00000125851 17 0 0 16 4 20 PLK1S1 0 genome.wustl.edu 37 20 21224925 21224925 + RNA SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 20 21224925 21224925 T A SNP PLK1S1 ENST00000246027 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PLK1S1 HGNC ENSG00000088970 60 0 0 52 10 16.129 IDH3B 0 genome.wustl.edu 37 20 2641184 2641184 + Missense_Mutation SNP T T G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 20 2641184 2641184 T G SNP IDH3B ENST00000380843 human ensembl 74_37 -1 known missense c.584 p.Q195P 1.000 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3B HGNC ENSG00000101365 135 0 0 145 17 10.4938 VPS16 0 genome.wustl.edu 37 20 2844792 2844792 + RNA SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 20 2844792 2844792 C G SNP VPS16 ENST00000487461 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors VPS16 HGNC ENSG00000215305 71 0 0 63 6 8.69565 POFUT1 0 genome.wustl.edu 37 20 30816106 30816106 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 20 30816106 30816106 G A SNP POFUT1 ENST00000375749 human ensembl 74_37 +1 known missense c.583 p.A195T 1.000 pfam_GDP-Fuc_O-FucTrfase pfam_GDP-Fuc_O-FucTrfase - no_errors POFUT1 HGNC ENSG00000101346 56 0 0 42 7 14.2857 BPIFB3 0 genome.wustl.edu 37 20 31652354 31652354 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 20 31652354 31652354 C T SNP BPIFB3 ENST00000375494 human ensembl 74_37 +1 known silent c.744 p.N248 0.944 superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB3 HGNC ENSG00000186190 71 0 0 52 5 8.77193 ZNF341 0 genome.wustl.edu 37 20 32346586 32346586 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 20 32346586 32346586 C T SNP ZNF341 ENST00000375200 human ensembl 74_37 +1 known silent c.1002 p.N334 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 48 0 0 49 14 22.2222 CHD6 0 genome.wustl.edu 37 20 40044125 40044125 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 20 40044125 40044125 C T SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.6640 p.E2214K 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 33 0 0 29 12 29.2683 SEMG1 0 genome.wustl.edu 37 20 43837255 43837255 + Silent SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 20 43837255 43837255 A T SNP SEMG1 ENST00000372781 human ensembl 74_37 +1 known silent c.1317 p.I439 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG1 HGNC ENSG00000124233 107 0 0 134 16 10.6667 SALL4 0 genome.wustl.edu 37 20 50408838 50408838 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 20 50408838 50408838 T C SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known missense c.184 p.T62A 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 81 0 0 91 16 14.9533 MCM8 0 genome.wustl.edu 37 20 5958554 5958554 + Nonsense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 20 5958554 5958554 T A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known nonsense c.1548 p.Y516* 1.000 pfam_MCM_DNA-dep_ATPase,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 61 0 0 47 4 7.84314 LRRN4 0 genome.wustl.edu 37 20 6022174 6022174 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 20 6022174 6022174 G A SNP LRRN4 ENST00000378858 human ensembl 74_37 -1 known missense c.1717 p.L573F 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 94 0 0 75 12 13.7931 ZBTB46 0 genome.wustl.edu 37 20 62378595 62378595 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 20 62378595 62378595 G A SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known silent c.1458 p.A486 0.914 smart_Znf_C2H2-like pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 9 0 0 3 5 62.5 NPBWR2 0 genome.wustl.edu 37 20 62737475 62737475 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 20 62737475 62737475 C T SNP NPBWR2 ENST00000369768 human ensembl 74_37 -1 known missense c.710 p.R237H 0.201 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors NPBWR2 HGNC ENSG00000125522 25 0 0 22 10 31.25 BAGE2 0 genome.wustl.edu 37 21 11097572 11097572 + RNA SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 21 11097572 11097572 C A SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 0.183 - - - no_errors BAGE2 HGNC ENSG00000187172 103 0 0 100 6 5.66038 APP 0 genome.wustl.edu 37 21 27394255 27394255 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 21 27394255 27394255 C T SNP APP ENST00000346798 human ensembl 74_37 -1 known missense c.766 p.E256K 1.000 NULL pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APP HGNC ENSG00000142192 46 0 0 26 5 16.129 BACH1 0 genome.wustl.edu 37 21 30968834 30968834 + RNA SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 21 30968834 30968834 C G SNP BACH1 ENST00000462262 human ensembl 74_37 +1 known rna NULL NULL 0.059 - - - no_errors BACH1 HGNC ENSG00000156273 168 0 0 131 35 21.0843 GRIK1 0 genome.wustl.edu 37 21 31015175 31015175 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 21 31015175 31015175 C T SNP GRIK1 ENST00000535441 human ensembl 74_37 -1 known missense c.1069 p.G357R 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 59 0 0 43 13 23.2143 KRTAP26-1 0 genome.wustl.edu 37 21 31691743 31691743 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 21 31691743 31691743 C T SNP KRTAP26-1 ENST00000360542 human ensembl 74_37 -1 known missense c.611 p.R204H 0.710 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP26-1 HGNC ENSG00000197683 228 0 0 177 45 20.2703 KRTAP27-1 0 genome.wustl.edu 37 21 31709495 31709495 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 21 31709495 31709495 C T SNP KRTAP27-1 ENST00000382835 human ensembl 74_37 -1 known silent c.492 p.Q164 0.004 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP27-1 HGNC ENSG00000206107 175 0 0 122 39 24.2236 DSCR3 0 genome.wustl.edu 37 21 38639585 38639585 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 21 38639585 38639585 G A SNP DSCR3 ENST00000309117 human ensembl 74_37 -1 known missense c.11 p.A4V 0.048 NULL pfam_VPS26,pfam_Arrestin-like_N,superfamily_Ig_E-set - no_errors DSCR3 HGNC ENSG00000157538 51 0 0 50 6 10.7143 DNMT3L 0 genome.wustl.edu 37 21 45680690 45680690 + Nonsense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 21 45680690 45680690 G A SNP DNMT3L ENST00000270172 human ensembl 74_37 -1 known nonsense c.139 p.R47* 0.002 NULL superfamily_Znf_FYVE_PHD - no_errors DNMT3L HGNC ENSG00000142182 138 0 0 55 29 34.5238 GAB4 0 genome.wustl.edu 37 22 17451031 17451031 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 22 17451031 17451031 T C SNP GAB4 ENST00000400588 human ensembl 74_37 -1 known missense c.739 p.T247A 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 136 0 0 91 40 30.5344 DGCR2 0 genome.wustl.edu 37 22 19028772 19028772 + Missense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 22 19028772 19028772 A T SNP DGCR2 ENST00000263196 human ensembl 74_37 -1 known missense c.1195 p.F399I 1.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin - no_errors DGCR2 HGNC ENSG00000070413 67 0 0 59 7 10.6061 UFD1L 0 genome.wustl.edu 37 22 19442339 19442339 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 22 19442339 19442339 T C SNP UFD1L ENST00000263202 human ensembl 74_37 -1 known missense c.782 p.Y261C 1.000 NULL pfam_UFD1 - no_errors UFD1L HGNC ENSG00000070010 56 0 0 40 6 13.0435 SRRD 0 genome.wustl.edu 37 22 26887495 26887495 + Missense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 22 26887495 26887495 A T SNP SRRD ENST00000215917 human ensembl 74_37 +1 known missense c.877 p.T293S 0.991 NULL pfam_SRR1-like - no_errors SRRD HGNC ENSG00000100104 104 0 0 74 11 12.9412 PES1 0 genome.wustl.edu 37 22 30977396 30977396 + Splice_Site SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 22 30977396 30977396 C G SNP PES1 ENST00000354694 human ensembl 74_37 -1 known splice_site c.748-1 e8-1 1.000 - - - no_errors PES1 HGNC ENSG00000100029 57 0 0 33 6 15.3846 PLA2G3 0 genome.wustl.edu 37 22 31531724 31531724 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 22 31531724 31531724 C A SNP PLA2G3 ENST00000215885 human ensembl 74_37 -1 known missense c.1515 p.K505N 0.000 NULL pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PLA2G3 HGNC ENSG00000100078 92 0 0 76 34 30.9091 PISD 0 genome.wustl.edu 37 22 32058137 32058137 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 22 32058137 32058137 G A SNP PISD ENST00000439502 human ensembl 74_37 -1 known missense c.58 p.R20W 0.995 NULL pfam_PS_Dcarbxylase,tigrfam_PS_decarb - no_errors PISD HGNC ENSG00000241878 167 0 0 108 24 18.1818 YWHAH 0 genome.wustl.edu 37 22 32352156 32352156 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 22 32352156 32352156 G A SNP YWHAH ENST00000248975 human ensembl 74_37 +1 known missense c.118 p.E40K 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAH HGNC ENSG00000128245 109 0 0 78 10 11.3636 SLC5A4 0 genome.wustl.edu 37 22 32630885 32630885 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 22 32630885 32630885 G T SNP SLC5A4 ENST00000266086 human ensembl 74_37 -1 known missense c.860 p.A287D 0.903 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 225 0 0 151 37 19.6809 APOL5 0 genome.wustl.edu 37 22 36122594 36122594 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 22 36122594 36122594 C G SNP APOL5 ENST00000249044 human ensembl 74_37 +1 known missense c.479 p.P160R 0.023 pfam_ApoL pfam_ApoL - no_errors APOL5 HGNC ENSG00000128313 97 0 0 80 31 27.9279 APOL1 0 genome.wustl.edu 37 22 36661728 36661728 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 22 36661728 36661728 C T SNP APOL1 ENST00000319136 human ensembl 74_37 +1 known silent c.894 p.D298 0.000 pfam_ApoL pfam_ApoL - no_errors APOL1 HGNC ENSG00000100342 89 0 0 72 12 14.2857 KCTD17 0 genome.wustl.edu 37 22 37458585 37458585 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 22 37458585 37458585 C G SNP KCTD17 ENST00000403888 human ensembl 74_37 +1 known missense c.917 p.P306R 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD17 HGNC ENSG00000100379 31 0 0 17 5 22.7273 FAM109B 0 genome.wustl.edu 37 22 42473397 42473397 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 22 42473397 42473397 C A SNP FAM109B ENST00000321753 human ensembl 74_37 +1 known missense c.100 p.P34T 0.897 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FAM109B HGNC ENSG00000177096 96 0 0 92 15 14.0187 EFCAB6 0 genome.wustl.edu 37 22 43924769 43924769 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 22 43924769 43924769 G C SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known missense c.4470 p.I1490M 0.568 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 211 0 0 120 59 32.9609 PANX2 0 genome.wustl.edu 37 22 50616220 50616220 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 22 50616220 50616220 C T SNP PANX2 ENST00000395842 human ensembl 74_37 +1 known missense c.1079 p.S360L 1.000 pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 53 0 0 29 7 19.4444 LNP1 0 genome.wustl.edu 37 3 100148706 100148706 + Missense_Mutation SNP A A G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 100148706 100148706 A G SNP LNP1 ENST00000383693 human ensembl 74_37 +1 known missense c.133 p.R45G 0.982 NULL NULL - no_errors LNP1 HGNC ENSG00000206535 164 0 0 176 18 9.27835 ABI3BP 0 genome.wustl.edu 37 3 100645191 100645191 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 100645191 100645191 A C SNP ABI3BP ENST00000284322 human ensembl 74_37 -1 known missense c.235 p.Y79D 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 81 0 0 87 7 7.44681 PHLDB2 0 genome.wustl.edu 37 3 111693337 111693337 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 111693337 111693337 C T SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.3689 p.S1230L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 170 0 0 117 46 28.2209 CCDC80 0 genome.wustl.edu 37 3 112349073 112349073 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 112349073 112349073 T C SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known missense c.1922 p.Q641R 1.000 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 107 0 0 89 22 19.8198 HRH1 0 genome.wustl.edu 37 3 11301940 11301940 + Missense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 11301940 11301940 A T SNP HRH1 ENST00000397056 human ensembl 74_37 +1 known missense c.1217 p.H406L 0.984 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt - no_errors HRH1 HGNC ENSG00000196639 145 0 0 116 21 15.3285 KIAA2018 0 genome.wustl.edu 37 3 113378877 113378877 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 113378877 113378877 T A SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.1652 p.N551I 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 99 0 0 100 32 24.2424 HGD 0 genome.wustl.edu 37 3 120365162 120365162 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 120365162 120365162 A C SNP HGD ENST00000283871 human ensembl 74_37 -1 known missense c.601 p.L201V 1.000 pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase - no_errors HGD HGNC ENSG00000113924 106 0 0 112 24 17.6471 STXBP5L 0 genome.wustl.edu 37 3 120976161 120976161 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 120976161 120976161 G T SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.1813 p.D605Y 1.000 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 87 0 0 61 20 24.6914 KALRN 0 genome.wustl.edu 37 3 124180761 124180761 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 124180761 124180761 G C SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.3873 p.Q1291H 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 86 0 0 68 24 26.087 CNBP 0 genome.wustl.edu 37 3 128890519 128890519 + Nonsense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 128890519 128890519 C A SNP CNBP ENST00000441626 human ensembl 74_37 -1 known nonsense c.82 p.G28* 1.000 superfamily_Znf_CCHC pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors CNBP HGNC ENSG00000169714 58 0 0 41 3 6.81818 MSL2 0 genome.wustl.edu 37 3 135871472 135871472 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 135871472 135871472 C A SNP MSL2 ENST00000309993 human ensembl 74_37 -1 known missense c.251 p.C84F 1.000 pfscan_Znf_RING pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 184 0 0 108 98 47.5728 PPM1L 0 genome.wustl.edu 37 3 160783228 160783228 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 160783228 160783228 C G SNP PPM1L ENST00000498165 human ensembl 74_37 +1 known missense c.612 p.D204E 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1L HGNC ENSG00000163590 120 0 0 65 62 48.8189 TNIK 0 genome.wustl.edu 37 3 170929005 170929005 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 170929005 170929005 T A SNP TNIK ENST00000436636 human ensembl 74_37 -1 known missense c.206 p.E69V 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_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 107 0 0 180 24 11.7647 ZNF639 0 genome.wustl.edu 37 3 179052209 179052209 + Nonstop_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 179052209 179052209 G C SNP ZNF639 ENST00000326361 human ensembl 74_37 +1 known nonstop c.1457 p.*486S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF639 HGNC ENSG00000121864 50 0 0 48 22 31.4286 ATP13A5 0 genome.wustl.edu 37 3 193052762 193052762 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 193052762 193052762 T C SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known missense c.1070 p.K357R 0.999 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 133 0 0 126 66 34.375 ACAP2 0 genome.wustl.edu 37 3 195016595 195016595 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 195016595 195016595 G A SNP ACAP2 ENST00000326793 human ensembl 74_37 -1 known missense c.1514 p.A505V 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP2 HGNC ENSG00000114331 53 0 0 64 5 7.24638 MUC4 0 genome.wustl.edu 37 3 195515615 195515615 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 195515615 195515615 C G SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.2836 p.G946R 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 52 0 0 76 9 10.5882 MFI2 0 genome.wustl.edu 37 3 196748317 196748317 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 196748317 196748317 C T SNP MFI2 ENST00000296350 human ensembl 74_37 -1 known missense c.670 p.V224M 0.997 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors MFI2 HGNC ENSG00000163975 48 0 0 68 27 28.4211 CNTN4 0 genome.wustl.edu 37 3 2924862 2924862 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 2924862 2924862 T A SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.686 p.V229E 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 32 0 0 26 4 13.3333 CNOT10 0 genome.wustl.edu 37 3 32804301 32804301 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 32804301 32804301 C G SNP CNOT10 ENST00000454516 human ensembl 74_37 +1 known missense c.1966 p.P656A 1.000 NULL pfam_TPR_1,smart_TPR_repeat - no_errors CNOT10 HGNC ENSG00000182973 72 0 0 33 19 36.5385 ZNF445 0 genome.wustl.edu 37 3 44496716 44496716 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 44496716 44496716 C G SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known missense c.326 p.G109A 0.480 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 103 0 0 47 16 25.3968 HESX1 0 genome.wustl.edu 37 3 57233803 57233803 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 57233803 57233803 G A SNP HESX1 ENST00000295934 human ensembl 74_37 -1 known silent c.144 p.T48 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HESX1 HGNC ENSG00000163666 107 0 0 43 29 40.2778 CADPS 0 genome.wustl.edu 37 3 62751640 62751640 + Missense_Mutation SNP T T G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 62751640 62751640 T G SNP CADPS ENST00000383710 human ensembl 74_37 -1 known missense c.461 p.Q154P 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 114 0 0 106 15 12.3967 ROBO1 0 genome.wustl.edu 37 3 78795966 78795966 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 78795966 78795966 C A SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.584 p.R195L 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 97 0 0 80 28 25.9259 EGF 0 genome.wustl.edu 37 4 110897291 110897291 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 110897291 110897291 C A SNP EGF ENST00000265171 human ensembl 74_37 +1 known missense c.1953 p.F651L 0.395 pirsf_Pro-epidermal_GF,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 111 0 0 84 34 28.8136 ANK2 0 genome.wustl.edu 37 4 114275081 114275081 + Missense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 114275081 114275081 A T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.5307 p.K1769N 1.000 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 370 0 0 241 106 30.5476 UGT8 0 genome.wustl.edu 37 4 115597140 115597140 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 115597140 115597140 T A SNP UGT8 ENST00000310836 human ensembl 74_37 +1 known missense c.1322 p.V441D 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT8 HGNC ENSG00000174607 100 0 0 67 17 20.2381 TRAM1L1 0 genome.wustl.edu 37 4 118006297 118006297 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 118006297 118006297 A C SNP TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known missense c.253 p.F85V 1.000 pfam_TRAM1,pirsf_Translocation_assoc_membrane pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 36 0 0 34 5 12.8205 PRDM5 0 genome.wustl.edu 37 4 121774656 121774656 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 121774656 121774656 C A SNP PRDM5 ENST00000264808 human ensembl 74_37 -1 known missense c.217 p.A73S 1.000 smart_SET_dom,pirsf_Znf_PRDM5,pfscan_SET_dom pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 373 0 0 321 37 10.3352 INTU 0 genome.wustl.edu 37 4 128628051 128628051 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 128628051 128628051 C T SNP INTU ENST00000335251 human ensembl 74_37 +1 known missense c.2198 p.T733I 0.032 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 223 0 0 179 43 19.3694 C4orf33 0 genome.wustl.edu 37 4 130030807 130030807 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 130030807 130030807 G C SNP C4orf33 ENST00000281146 human ensembl 74_37 +1 known missense c.474 p.Q158H 0.009 NULL NULL - no_errors C4orf33 HGNC ENSG00000151470 53 0 0 49 7 12.5 HHIP 0 genome.wustl.edu 37 4 145655992 145655992 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 145655992 145655992 G A SNP HHIP ENST00000296575 human ensembl 74_37 +1 known silent c.1860 p.T620 0.052 smart_EG-like_dom pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 66 0 0 39 9 18.75 DCHS2 0 genome.wustl.edu 37 4 155237055 155237055 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 155237055 155237055 G A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.3740 p.P1247L 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 47 0 0 55 5 8.33333 DCHS2 0 genome.wustl.edu 37 4 155241793 155241793 + Silent SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 155241793 155241793 T A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known silent c.3393 p.T1131 0.923 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 230 1 0.4329 195 93 32.2917 NEK1 0 genome.wustl.edu 37 4 170508717 170508717 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 170508717 170508717 T A SNP NEK1 ENST00000507142 human ensembl 74_37 -1 known missense c.599 p.K200I 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,prints_Ser-Thr/Tyr_kinase_cat_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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 10 0 0 8 6 42.8571 CLCN3 0 genome.wustl.edu 37 4 170557218 170557218 + Silent SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 170557218 170557218 T C SNP CLCN3 ENST00000347613 human ensembl 74_37 +1 known silent c.139 p.L47 1.000 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-3 - no_errors CLCN3 HGNC ENSG00000109572 67 0 0 85 43 33.5938 TBC1D1 0 genome.wustl.edu 37 4 38138770 38138770 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 38138770 38138770 G C SNP TBC1D1 ENST00000261439 human ensembl 74_37 +1 known missense c.3321 p.R1107S 0.994 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC ENSG00000065882 109 0 0 61 29 32.2222 ATP10D 0 genome.wustl.edu 37 4 47565665 47565665 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 47565665 47565665 G A SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known silent c.2736 p.A912 0.018 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase 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 ATP10D HGNC ENSG00000145246 70 0 0 38 13 25.4902 EVC2 0 genome.wustl.edu 37 4 5567010 5567010 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 5567010 5567010 G A SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known silent c.3634 p.L1212 0.830 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 136 0 0 89 16 15.2381 PPEF2 0 genome.wustl.edu 37 4 76813023 76813023 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 76813023 76813023 C T SNP PPEF2 ENST00000286719 human ensembl 74_37 -1 known missense c.164 p.G55E 1.000 pirsf_Ser/Thr-Pase_EF-hand_contain pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom - no_errors PPEF2 HGNC ENSG00000156194 94 0 0 69 10 12.6582 WDFY3 0 genome.wustl.edu 37 4 85750257 85750257 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 85750257 85750257 G C SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.856 p.L286V 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 83 0 0 83 5 5.68182 PTPN13 0 genome.wustl.edu 37 4 87696333 87696333 + Missense_Mutation SNP A A G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 87696333 87696333 A G SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.5533 p.T1845A 0.991 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 26 0 0 19 3 13.6364 MMRN1 0 genome.wustl.edu 37 4 90848951 90848951 + Missense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 90848951 90848951 A T SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known missense c.961 p.M321L 0.255 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 115 0 0 94 19 16.8142 GRID2 0 genome.wustl.edu 37 4 94690491 94690491 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 94690491 94690491 T A SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.2491 p.F831I 1.000 pfam_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 108 0 0 77 11 12.5 UNC5C 0 genome.wustl.edu 37 4 96123976 96123976 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 4 96123976 96123976 C T SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.2042 p.R681H 1.000 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 79 0 0 72 9 11.1111 ZRSR1 0 genome.wustl.edu 37 5 112228333 112228333 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 112228333 112228333 T A SNP ZRSR1 ENST00000391338 human ensembl 74_37 +1 known missense c.997 p.F333I 1.000 smart_Znf_CCCH,prints_U2_small pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors ZRSR1 HGNC ENSG00000212643 123 0 0 97 8 7.61905 TGFBI 0 genome.wustl.edu 37 5 135382059 135382059 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 135382059 135382059 G A SNP TGFBI ENST00000305126 human ensembl 74_37 +1 known missense c.334 p.V112I 0.163 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,superfamily_FAS1_domain,pfscan_FAS1_domain pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC ENSG00000120708 76 0 0 60 11 15.493 TGFBI 0 genome.wustl.edu 37 5 135396544 135396544 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 135396544 135396544 A C SNP TGFBI ENST00000305126 human ensembl 74_37 +1 known missense c.1825 p.N609H 1.000 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC ENSG00000120708 27 0 0 31 8 20.5128 PCDHA8 0 genome.wustl.edu 37 5 140222821 140222821 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 140222821 140222821 G A SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.1915 p.E639K 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 162 0 0 107 49 31.4103 PCDHA11 0 genome.wustl.edu 37 5 140250586 140250586 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 140250586 140250586 C T SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1898 p.T633M 0.922 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 102 0 0 71 35 33.0189 PCDHB1 0 genome.wustl.edu 37 5 140432602 140432602 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 140432602 140432602 C T SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known missense c.1547 p.A516V 0.976 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 PCDHB1 HGNC ENSG00000171815 67 0 0 54 6 10 PCDHB3 0 genome.wustl.edu 37 5 140482191 140482191 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 140482191 140482191 C T SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1958 p.S653L 0.758 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 PCDHB3 HGNC ENSG00000113205 92 0 0 83 32 27.8261 ENSG00000255622 0 genome.wustl.edu 37 5 140536576 140536576 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 140536576 140536576 G A SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known missense c.1000 p.V334I 0.681 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 PCDHB17 Uniprot_gn ENSG00000255622 13 0 0 6 3 33.3333 PCDHB11 0 genome.wustl.edu 37 5 140581647 140581647 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 140581647 140581647 T C SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.2300 p.L767P 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 115 1 0.862069 88 34 27.8689 PCDHGB1 0 genome.wustl.edu 37 5 140731731 140731731 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 140731731 140731731 G A SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known missense c.1904 p.R635H 0.008 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 PCDHGB1 HGNC ENSG00000254221 34 0 0 45 16 26.2295 FGF1 0 genome.wustl.edu 37 5 141974992 141974992 + Missense_Mutation SNP T T G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 141974992 141974992 T G SNP FGF1 ENST00000337706 human ensembl 74_37 -1 known missense c.331 p.T111P 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF1 HGNC ENSG00000113578 62 0 0 57 16 21.9178 NR3C1 0 genome.wustl.edu 37 5 142779885 142779885 + Missense_Mutation SNP T T G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 142779885 142779885 T G SNP NR3C1 ENST00000231509 human ensembl 74_37 -1 known missense c.520 p.T174P 0.198 pfam_Glcrtcd_rcpt pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR3C1 HGNC ENSG00000113580 82 0 0 75 9 10.7143 FAT2 0 genome.wustl.edu 37 5 150945266 150945266 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 150945266 150945266 C A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.3227 p.G1076V 0.968 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 47 0 0 27 12 30.7692 C5orf54 0 genome.wustl.edu 37 5 159821852 159821852 + Nonsense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 159821852 159821852 C A SNP C5orf54 ENST00000408953 human ensembl 74_37 -1 known nonsense c.646 p.G216* 0.984 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors C5orf54 HGNC ENSG00000221886 66 0 0 61 6 8.95522 ATP10B 0 genome.wustl.edu 37 5 160061518 160061518 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 160061518 160061518 C G SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.1224 p.E408D 0.143 tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase 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 ATP10B HGNC ENSG00000118322 179 0 0 131 46 25.9887 CREBRF 0 genome.wustl.edu 37 5 172513607 172513607 + Missense_Mutation SNP A A G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 172513607 172513607 A G SNP CREBRF ENST00000540014 human ensembl 74_37 +1 known missense c.113 p.D38G 1.000 NULL NULL - no_errors CREBRF HGNC ENSG00000164463 117 0 0 111 14 11.2 DBN1 0 genome.wustl.edu 37 5 176894295 176894295 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 176894295 176894295 C G SNP DBN1 ENST00000292385 human ensembl 74_37 -1 known missense c.522 p.M174I 1.000 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors DBN1 HGNC ENSG00000113758 296 0 0 232 62 21.0884 NHP2 0 genome.wustl.edu 37 5 177580502 177580502 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 177580502 177580502 C G SNP NHP2 ENST00000274606 human ensembl 74_37 -1 known missense c.220 p.G74R 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7Ae/L8/Nhp2 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7Ae/L8/Nhp2,prints_H/ACA_rnp_Nhp2_euk - no_errors NHP2 HGNC ENSG00000145912 146 1 0.680272 128 32 20 ADAMTS2 0 genome.wustl.edu 37 5 178634644 178634644 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 178634644 178634644 C G SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known missense c.761 p.R254T 0.040 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 121 0 0 90 11 10.8911 FLT4 0 genome.wustl.edu 37 5 180057790 180057790 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 180057790 180057790 G A SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known silent c.165 p.H55 0.995 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 10 0 0 21 10 32.2581 MGAT1 0 genome.wustl.edu 37 5 180219900 180219900 + Silent SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 180219900 180219900 C G SNP MGAT1 ENST00000307826 human ensembl 74_37 -1 known silent c.72 p.L24 0.999 pfam_Glyco_trans_13 pfam_Glyco_trans_13 - no_errors MGAT1 HGNC ENSG00000131446 13 0 0 9 6 40 CDH9 0 genome.wustl.edu 37 5 26881298 26881298 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 26881298 26881298 G A SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.2317 p.R773C 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 140 0 0 94 16 14.5455 ZFR 0 genome.wustl.edu 37 5 32420129 32420129 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 32420129 32420129 C A SNP ZFR ENST00000265069 human ensembl 74_37 -1 known missense c.217 p.A73S 1.000 NULL pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 61 0 0 45 7 13.4615 ADAMTS16 0 genome.wustl.edu 37 5 5239336 5239336 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 5239336 5239336 T C SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.2227 p.S743P 1.000 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 201 0 0 131 56 29.9465 KIAA0947 0 genome.wustl.edu 37 5 5462216 5462216 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 5462216 5462216 C G SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.2769 p.S923R 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 61 0 0 46 21 31.3433 MAST4 0 genome.wustl.edu 37 5 66460529 66460529 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 66460529 66460529 C T SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.5531 p.P1844L 0.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 54 0 0 55 5 8.33333 PDE8B 0 genome.wustl.edu 37 5 76721718 76721718 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 76721718 76721718 G A SNP PDE8B ENST00000264917 human ensembl 74_37 +1 known missense c.2545 p.D849N 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8B HGNC ENSG00000113231 65 0 0 52 15 22.3881 GPR98 0 genome.wustl.edu 37 5 90008210 90008210 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 90008210 90008210 C T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.9149 p.P3050L 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 23 0 0 2 3 60 ELL2 0 genome.wustl.edu 37 5 95242421 95242421 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 95242421 95242421 A C SNP ELL2 ENST00000237853 human ensembl 74_37 -1 known missense c.547 p.S183A 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 147 1 0.675676 140 42 23.0769 HIVEP1 0 genome.wustl.edu 37 6 12125636 12125636 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 12125636 12125636 A C SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.5608 p.T1870P 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 73 0 0 52 11 17.4603 GJA1 0 genome.wustl.edu 37 6 121768639 121768639 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 121768639 121768639 G C SNP GJA1 ENST00000282561 human ensembl 74_37 +1 known missense c.646 p.V216L 1.000 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 195 0 0 176 23 11.5578 LAMA2 0 genome.wustl.edu 37 6 129371152 129371152 + Nonsense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 129371152 129371152 A T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known nonsense c.202 p.K68* 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 81 0 0 65 14 17.7215 LAMA2 0 genome.wustl.edu 37 6 129465225 129465225 + Missense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 129465225 129465225 A T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.819 p.R273S 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 49 0 0 35 17 32.6923 MED23 0 genome.wustl.edu 37 6 131919758 131919758 + Silent SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 131919758 131919758 G C SNP MED23 ENST00000368058 human ensembl 74_37 -1 known silent c.2382 p.L794 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 55 0 0 61 10 14.0845 MED23 0 genome.wustl.edu 37 6 131944588 131944588 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 131944588 131944588 G A SNP MED23 ENST00000368058 human ensembl 74_37 -1 known missense c.299 p.S100F 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 84 0 0 60 14 18.9189 KIAA1244 0 genome.wustl.edu 37 6 138583879 138583879 + Missense_Mutation SNP T T G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 138583879 138583879 T G SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.1259 p.I420S 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 123 0 0 154 20 11.4943 GRM1 0 genome.wustl.edu 37 6 146755717 146755717 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 146755717 146755717 C T SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known silent c.3370 p.L1124 0.976 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 99 0 0 112 10 8.19672 SYNE1 0 genome.wustl.edu 37 6 152650897 152650897 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 152650897 152650897 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.14923 p.G4975R 0.415 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 147 0 0 90 37 29.1339 SYNE1 0 genome.wustl.edu 37 6 152712632 152712632 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 152712632 152712632 C A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.7784 p.G2595V 0.551 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 80 0 0 40 22 35.4839 SYNE1 0 genome.wustl.edu 37 6 152841659 152841659 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 152841659 152841659 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.244 p.R82W 0.993 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 204 0 0 91 47 34.058 PARK2 0 genome.wustl.edu 37 6 161969977 161969977 + Nonsense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 161969977 161969977 A T SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known nonsense c.992 p.L331* 1.000 pfam_Znf_C6HC,smart_Znf_C6HC,pirsf_Parkin,prints_Parkin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 116 0 0 51 12 19.0476 RPS6KA2 0 genome.wustl.edu 37 6 166883360 166883360 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 166883360 166883360 C T SNP RPS6KA2 ENST00000510118 human ensembl 74_37 -1 known missense c.1016 p.R339H 0.979 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KA2 HGNC ENSG00000071242 72 0 0 52 13 20 TPMT 0 genome.wustl.edu 37 6 18149277 18149277 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 18149277 18149277 C G SNP TPMT ENST00000309983 human ensembl 74_37 -1 known missense c.82 p.E28Q 1.000 pfam_TPMT,pirsf_Thiopurine_S-MeTrfase pfam_TPMT,pirsf_Thiopurine_S-MeTrfase - no_errors TPMT HGNC ENSG00000137364 238 0 0 199 38 16.0338 DCDC2 0 genome.wustl.edu 37 6 24289091 24289091 + Missense_Mutation SNP A A G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 24289091 24289091 A G SNP DCDC2 ENST00000378454 human ensembl 74_37 -1 known missense c.748 p.S250P 1.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC2 HGNC ENSG00000146038 31 0 0 31 4 11.4286 SLC17A4 0 genome.wustl.edu 37 6 25769239 25769239 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 25769239 25769239 G T SNP SLC17A4 ENST00000377905 human ensembl 74_37 +1 known missense c.118 p.A40S 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 70 0 0 48 28 36.8421 SLC17A2 0 genome.wustl.edu 37 6 25916075 25916075 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 25916075 25916075 G A SNP SLC17A2 ENST00000377850 human ensembl 74_37 -1 known missense c.952 p.P318S 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A2 HGNC ENSG00000112337 39 0 0 20 13 39.3939 HIST1H3J 0 genome.wustl.edu 37 6 27858481 27858481 + Silent SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 27858481 27858481 A C SNP HIST1H3J ENST00000359303 human ensembl 74_37 -1 known silent c.90 p.A30 0.066 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3J HGNC ENSG00000197153 81 0 0 77 8 9.41176 ZSCAN31 0 genome.wustl.edu 37 6 28293917 28293917 + RNA SNP T T G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 28293917 28293917 T G SNP ZSCAN31 ENST00000481934 human ensembl 74_37 -1 putative rna NULL NULL 0.118 - - - no_errors ZSCAN31 HGNC ENSG00000235109 378 0 0 313 48 13.2964 TRIM40 0 genome.wustl.edu 37 6 30114861 30114861 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 30114861 30114861 C G SNP TRIM40 ENST00000376724 human ensembl 74_37 +1 known missense c.541 p.Q181E 0.021 NULL pfam_Znf_C3HC4_RING-type,superfamily_tRNA-bd_arm,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM40 HGNC ENSG00000204614 42 0 0 25 15 37.5 TUBB2A 0 genome.wustl.edu 37 6 3154817 3154817 + Silent SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 3154817 3154817 G C SNP TUBB2A ENST00000333628 human ensembl 74_37 -1 known silent c.618 p.A206 0.983 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2A HGNC ENSG00000137267 160 0 0 100 63 38.6503 TNXB 0 genome.wustl.edu 37 6 32065796 32065796 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 32065796 32065796 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.180 p.Y60 0.960 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 46 0 0 37 3 7.5 UHRF1BP1 0 genome.wustl.edu 37 6 34825517 34825517 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 34825517 34825517 C T SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known silent c.1590 p.L530 0.999 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 145 0 0 131 19 12.6667 SCUBE3 0 genome.wustl.edu 37 6 35199608 35199608 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 35199608 35199608 C G SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known missense c.441 p.N147K 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 57 0 0 48 9 15.7895 SLC26A8 0 genome.wustl.edu 37 6 35980070 35980070 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 35980070 35980070 C A SNP SLC26A8 ENST00000355574 human ensembl 74_37 -1 known missense c.268 p.D90Y 0.996 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 207 2 0.956938 138 95 40.7725 BRPF3 0 genome.wustl.edu 37 6 36169369 36169369 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 36169369 36169369 G A SNP BRPF3 ENST00000357641 human ensembl 74_37 +1 known missense c.1270 p.E424K 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC ENSG00000096070 31 0 0 17 9 34.6154 FOXP4 0 genome.wustl.edu 37 6 41558042 41558042 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 41558042 41558042 C A SNP FOXP4 ENST00000307972 human ensembl 74_37 +1 known missense c.1391 p.A464D 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP4 HGNC ENSG00000137166 161 0 0 129 53 29.1209 SRF 0 genome.wustl.edu 37 6 43141605 43141605 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 43141605 43141605 G A SNP SRF ENST00000265354 human ensembl 74_37 +1 known silent c.534 p.L178 1.000 pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors SRF HGNC ENSG00000112658 57 0 0 62 21 25.3012 MEP1A 0 genome.wustl.edu 37 6 46801255 46801255 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 46801255 46801255 C T SNP MEP1A ENST00000230588 human ensembl 74_37 +1 known missense c.1589 p.S530L 0.546 pirsf_Pept_M12A_Meprin,pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 121 0 0 136 13 8.72483 PKHD1 0 genome.wustl.edu 37 6 51640698 51640698 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 51640698 51640698 T C SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.8462 p.E2821G 0.117 pfam_G8_domain pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 98 0 0 67 25 27.1739 GSTA5 0 genome.wustl.edu 37 6 52696671 52696671 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 52696671 52696671 T A SNP GSTA5 ENST00000284562 human ensembl 74_37 -1 known missense c.644 p.E215V 0.012 superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA5 HGNC ENSG00000182793 135 0 0 108 29 21.1679 KIAA1586 0 genome.wustl.edu 37 6 56917860 56917860 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 56917860 56917860 T C SNP KIAA1586 ENST00000370733 human ensembl 74_37 +1 known missense c.563 p.L188S 0.999 NULL superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 58 0 0 62 8 11.4286 LGSN 0 genome.wustl.edu 37 6 63989980 63989980 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 63989980 63989980 C G SNP LGSN ENST00000370657 human ensembl 74_37 -1 known missense c.1476 p.L492F 1.000 NULL pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors LGSN HGNC ENSG00000146166 100 0 0 65 23 26.1364 COL19A1 0 genome.wustl.edu 37 6 70812095 70812095 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 70812095 70812095 C T SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.1259 p.P420L 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 112 0 0 47 14 22.9508 ZAN 0 genome.wustl.edu 37 7 100350051 100350051 + Missense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 100350051 100350051 A T SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.2323 p.I775F 0.000 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 111 0 0 64 37 36.6337 ZAN 0 genome.wustl.edu 37 7 100386946 100386946 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 100386946 100386946 G C SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.7331 p.S2444T 0.769 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 90 0 0 59 22 27.1605 MOGAT3 0 genome.wustl.edu 37 7 100843711 100843711 + Silent SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 100843711 100843711 C G SNP MOGAT3 ENST00000440203 human ensembl 74_37 -1 known silent c.195 p.V65 0.256 pfam_DAGAT pfam_DAGAT - no_errors MOGAT3 HGNC ENSG00000106384 26 0 0 14 9 39.1304 LHFPL3 0 genome.wustl.edu 37 7 104377251 104377251 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 104377251 104377251 T C SNP LHFPL3 ENST00000535008 human ensembl 74_37 +1 known missense c.575 p.L192P 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL3 HGNC ENSG00000187416 34 0 0 30 14 31.8182 KMT2E 0 genome.wustl.edu 37 7 104753013 104753013 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 104753013 104753013 G C SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.4810 p.V1604L 0.964 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 142 0 0 117 52 30.7692 IMMP2L 0 genome.wustl.edu 37 7 111127338 111127338 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 111127338 111127338 T A SNP IMMP2L ENST00000331762 human ensembl 74_37 -1 known missense c.195 p.K65N 1.000 pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,tigrfam_Pept_S26A_signal_pept_1 pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1 - no_errors IMMP2L HGNC ENSG00000184903 115 0 0 78 29 27.1028 TRIM24 0 genome.wustl.edu 37 7 138252371 138252371 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 138252371 138252371 C T SNP TRIM24 ENST00000343526 human ensembl 74_37 +1 known missense c.1676 p.A559V 1.000 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM24 HGNC ENSG00000122779 69 0 0 51 23 31.0811 ATP6V0A4 0 genome.wustl.edu 37 7 138453928 138453928 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 138453928 138453928 C G SNP ATP6V0A4 ENST00000310018 human ensembl 74_37 -1 known missense c.186 p.E62D 0.994 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A4 HGNC ENSG00000105929 100 0 0 92 9 8.91089 CHPF2 0 genome.wustl.edu 37 7 150934818 150934818 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 150934818 150934818 G C SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known missense c.1370 p.G457A 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 72 0 0 53 7 11.6667 ACTR3B 0 genome.wustl.edu 37 7 152517527 152517527 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 152517527 152517527 G T SNP ACTR3B ENST00000256001 human ensembl 74_37 +1 known missense c.684 p.K228N 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR3B HGNC ENSG00000133627 22 0 0 7 6 46.1538 GPNMB 0 genome.wustl.edu 37 7 23296606 23296606 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 23296606 23296606 G A SNP GPNMB ENST00000381990 human ensembl 74_37 +1 known missense c.463 p.V155I 0.899 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors GPNMB HGNC ENSG00000136235 94 0 0 120 23 16.0839 GPNMB 0 genome.wustl.edu 37 7 23307588 23307588 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 23307588 23307588 G C SNP GPNMB ENST00000381990 human ensembl 74_37 +1 known missense c.1237 p.V413L 0.514 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors GPNMB HGNC ENSG00000136235 170 0 0 158 37 18.9744 IGF2BP3 0 genome.wustl.edu 37 7 23385595 23385595 + Missense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 23385595 23385595 A T SNP IGF2BP3 ENST00000258729 human ensembl 74_37 -1 known missense c.905 p.I302N 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 IGF2BP3 HGNC ENSG00000136231 78 0 0 55 36 39.5604 PDE1C 0 genome.wustl.edu 37 7 31829844 31829844 + RNA SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 31829844 31829844 G A SNP PDE1C ENST00000479980 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors PDE1C HGNC ENSG00000154678 91 0 0 77 11 12.5 HERPUD2 0 genome.wustl.edu 37 7 35673968 35673968 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 35673968 35673968 A C SNP HERPUD2 ENST00000311350 human ensembl 74_37 -1 known missense c.1013 p.V338G 0.328 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors HERPUD2 HGNC ENSG00000122557 68 0 0 45 14 23.7288 ABCA13 0 genome.wustl.edu 37 7 48321025 48321025 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 48321025 48321025 G A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.8812 p.V2938I 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 10 0 0 13 3 18.75 ABCA13 0 genome.wustl.edu 37 7 48494772 48494772 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 48494772 48494772 T A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.12704 p.L4235H 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 12 0 0 7 3 30 ABCA13 0 genome.wustl.edu 37 7 48559761 48559761 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 48559761 48559761 G T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.13922 p.G4641V 0.976 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 49 0 0 46 8 14.8148 GTF2IRD1 0 genome.wustl.edu 37 7 73973284 73973284 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 73973284 73973284 G T SNP GTF2IRD1 ENST00000265755 human ensembl 74_37 +1 known missense c.2246 p.G749V 0.992 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 92 0 0 78 29 27.1028 COL28A1 0 genome.wustl.edu 37 7 7555464 7555464 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 7555464 7555464 G T SNP COL28A1 ENST00000399429 human ensembl 74_37 -1 known missense c.863 p.P288H 0.997 NULL pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 96 0 0 121 21 14.7887 ZNF804B 0 genome.wustl.edu 37 7 88956755 88956755 + Missense_Mutation SNP A A G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 88956755 88956755 A G SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.347 p.H116R 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 51 0 0 49 20 28.9855 KRIT1 0 genome.wustl.edu 37 7 91871404 91871404 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 91871404 91871404 G A SNP KRIT1 ENST00000340022 human ensembl 74_37 -1 known missense c.46 p.R16C 1.000 NULL pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain - no_errors KRIT1 HGNC ENSG00000001631 161 0 0 172 25 12.6904 SAMD9L 0 genome.wustl.edu 37 7 92763243 92763243 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 92763243 92763243 T A SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.2042 p.K681I 0.018 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 63 0 0 68 6 8.10811 CALCR 0 genome.wustl.edu 37 7 93108743 93108743 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 93108743 93108743 A C SNP CALCR ENST00000359558 human ensembl 74_37 -1 known missense c.182 p.V61G 0.001 prints_GPCR_2_calcitonin_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCR HGNC ENSG00000004948 167 0 0 132 44 25 ASB4 0 genome.wustl.edu 37 7 95165756 95165756 + Missense_Mutation SNP A A G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 95165756 95165756 A G SNP ASB4 ENST00000325885 human ensembl 74_37 +1 known missense c.986 p.Q329R 1.000 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB4 HGNC ENSG00000005981 37 0 0 32 10 23.8095 RGS22 0 genome.wustl.edu 37 8 101083727 101083727 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 101083727 101083727 G C SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known missense c.464 p.S155C 0.763 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 59 0 0 70 17 19.5402 ABRA 0 genome.wustl.edu 37 8 107773616 107773616 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 107773616 107773616 G A SNP ABRA ENST00000311955 human ensembl 74_37 -1 known silent c.795 p.F265 1.000 NULL NULL - no_errors ABRA HGNC ENSG00000174429 127 0 0 110 12 9.83607 EBAG9 0 genome.wustl.edu 37 8 110569219 110569219 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 110569219 110569219 G T SNP EBAG9 ENST00000337573 human ensembl 74_37 +1 known missense c.377 p.G126V 1.000 pirsf_Cancer-assoc_antigen_RCAS1 pirsf_Cancer-assoc_antigen_RCAS1 - no_errors EBAG9 HGNC ENSG00000147654 41 0 0 38 5 11.6279 CSMD3 0 genome.wustl.edu 37 8 113363439 113363439 + Missense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 113363439 113363439 A T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.6290 p.V2097E 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 155 0 0 154 13 7.78443 CSMD3 0 genome.wustl.edu 37 8 113662442 113662442 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 113662442 113662442 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.3141 p.P1047 0.495 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 115 0 0 69 49 41.5254 COL14A1 0 genome.wustl.edu 37 8 121293176 121293176 + Missense_Mutation SNP A A C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 121293176 121293176 A C SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.3702 p.E1234D 0.998 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 51 0 0 33 4 10.8108 C8orf76 0 genome.wustl.edu 37 8 124251354 124251354 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 124251354 124251354 C A SNP C8orf76 ENST00000276704 human ensembl 74_37 -1 known missense c.148 p.D50Y 0.989 NULL NULL - no_errors C8orf76 HGNC ENSG00000189376 125 0 0 140 43 23.4973 ADCY8 0 genome.wustl.edu 37 8 131859736 131859736 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 131859736 131859736 C T SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.2436 p.S812 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 66 0 0 79 8 9.1954 COL22A1 0 genome.wustl.edu 37 8 139636017 139636017 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 139636017 139636017 G A SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known silent c.3729 p.G1243 1.000 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 244 0 0 188 126 40.1274 BAI1 0 genome.wustl.edu 37 8 143558756 143558756 + Silent SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 143558756 143558756 C G SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known silent c.1233 p.A411 0.997 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 105 0 0 94 16 14.5455 LZTS1 0 genome.wustl.edu 37 8 20107748 20107748 + Silent SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 20107748 20107748 G A SNP LZTS1 ENST00000265801 human ensembl 74_37 -1 known silent c.1276 p.L426 1.000 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 140 0 0 60 21 25.9259 XPO7 0 genome.wustl.edu 37 8 21842211 21842211 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 21842211 21842211 C G SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known missense c.1359 p.D453E 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 43 0 0 16 6 27.2727 FAM160B2 0 genome.wustl.edu 37 8 21959336 21959336 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 21959336 21959336 G C SNP FAM160B2 ENST00000289921 human ensembl 74_37 +1 known missense c.1825 p.D609H 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160B2 HGNC ENSG00000158863 21 0 0 18 4 18.1818 LGI3 0 genome.wustl.edu 37 8 22006340 22006340 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 22006340 22006340 C T SNP LGI3 ENST00000306317 human ensembl 74_37 -1 known missense c.980 p.R327H 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI3 HGNC ENSG00000168481 56 0 0 28 5 15.1515 C8orf58 0 genome.wustl.edu 37 8 22458487 22458487 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 22458487 22458487 T A SNP C8orf58 ENST00000289989 human ensembl 74_37 +1 known missense c.133 p.S45T 0.000 NULL NULL - no_errors C8orf58 HGNC ENSG00000241852 52 0 0 35 8 18.6047 PTK2B 0 genome.wustl.edu 37 8 27278199 27278199 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 27278199 27278199 C A SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known missense c.409 p.P137T 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 123 0 0 98 15 13.2743 CLU 0 genome.wustl.edu 37 8 27462624 27462624 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 27462624 27462624 G T SNP CLU ENST00000560366 human ensembl 74_37 -1 known missense c.802 p.P268T 0.000 pfam_Clusterin-like,smart_Clusterin_N pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLU HGNC ENSG00000120885 82 0 0 75 8 9.63855 EXTL3 0 genome.wustl.edu 37 8 28574839 28574839 + Silent SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 28574839 28574839 C G SNP EXTL3 ENST00000220562 human ensembl 74_37 +1 known silent c.1263 p.R421 0.530 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 66 0 0 60 6 9.09091 ADAM2 0 genome.wustl.edu 37 8 39613329 39613329 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 39613329 39613329 C T SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known missense c.1715 p.C572Y 0.125 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 83 0 0 62 14 18.4211 PENK 0 genome.wustl.edu 37 8 57358361 57358361 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 57358361 57358361 C T SNP PENK ENST00000518770 human ensembl 74_37 -1 putative missense c.152 p.R51H 0.000 NULL pfam_Opioid_neupept,prints_Proenkphlin_A - no_errors PENK HGNC ENSG00000181195 92 0 0 69 8 10.3896 FAM110B 0 genome.wustl.edu 37 8 59058842 59058842 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 59058842 59058842 C T SNP FAM110B ENST00000361488 human ensembl 74_37 +1 known missense c.53 p.A18V 0.999 NULL NULL - no_errors FAM110B HGNC ENSG00000169122 43 0 0 16 10 38.4615 ERICH1 0 genome.wustl.edu 37 8 618699 618699 + Missense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 618699 618699 A T SNP ERICH1 ENST00000262109 human ensembl 74_37 -1 known missense c.1157 p.V386E 0.003 NULL NULL - no_errors ERICH1 HGNC ENSG00000104714 68 0 0 47 5 9.61538 PALM2-AKAP2 0 genome.wustl.edu 37 9 112900351 112900351 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 9 112900351 112900351 G T SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.2527 p.A843S 0.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 41 0 0 47 11 18.9655 OR1Q1 0 genome.wustl.edu 37 9 125377696 125377696 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 9 125377696 125377696 G A SNP OR1Q1 ENST00000297913 human ensembl 74_37 +1 known missense c.680 p.R227Q 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1Q1 HGNC ENSG00000165202 151 0 0 125 20 13.7931 NEK6 0 genome.wustl.edu 37 9 127089678 127089678 + Silent SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 9 127089678 127089678 T C SNP NEK6 ENST00000373600 human ensembl 74_37 +1 known silent c.678 p.G226 0.824 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK6 HGNC ENSG00000119408 219 1 0.454545 183 22 10.7317 OLFML2A 0 genome.wustl.edu 37 9 127572405 127572405 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 9 127572405 127572405 T C SNP OLFML2A ENST00000373580 human ensembl 74_37 +1 known missense c.1673 p.L558P 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 46 0 0 36 24 40 SH2D3C 0 genome.wustl.edu 37 9 130507127 130507127 + Nonsense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 9 130507127 130507127 G A SNP SH2D3C ENST00000314830 human ensembl 74_37 -1 known nonsense c.1516 p.R506* 0.534 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors SH2D3C HGNC ENSG00000095370 201 1 0.49505 128 69 35.0254 GTF3C5 0 genome.wustl.edu 37 9 135926336 135926336 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 9 135926336 135926336 G A SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known missense c.739 p.D247N 0.997 pfam_TF_IIIC_su-5 pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 28 0 0 25 4 13.7931 MAMDC4 0 genome.wustl.edu 37 9 139753255 139753255 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 9 139753255 139753255 C T SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known missense c.3143 p.P1048L 0.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 32 0 0 28 6 17.6471 CACNA1B 0 genome.wustl.edu 37 9 140773521 140773521 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 9 140773521 140773521 G A SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.300 p.M100I 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 51 0 0 26 7 21.2121 SMARCA2 0 genome.wustl.edu 37 9 2029104 2029104 + Missense_Mutation SNP G G T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 9 2029104 2029104 G T SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.82 p.G28W 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 13 0 0 8 2 20 SMARCA2 0 genome.wustl.edu 37 9 2086906 2086906 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 9 2086906 2086906 C A SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.2604 p.N868K 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 93 0 0 84 30 26.3158 LINGO2 0 genome.wustl.edu 37 9 27949741 27949741 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 9 27949741 27949741 C T SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.929 p.R310H 0.993 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 119 0 0 121 9 6.92308 DNAJB5 0 genome.wustl.edu 37 9 34993435 34993435 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 9 34993435 34993435 G C SNP DNAJB5 ENST00000454002 human ensembl 74_37 +1 known missense c.421 p.E141Q 1.000 superfamily_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB5 HGNC ENSG00000137094 116 0 0 96 53 35.5705 PLGRKT 0 genome.wustl.edu 37 9 5431897 5431897 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 9 5431897 5431897 C T SNP PLGRKT ENST00000223864 human ensembl 74_37 -1 known silent c.81 p.Q27 1.000 pfam_DUF2368 pfam_DUF2368 - no_errors PLGRKT HGNC ENSG00000107020 48 0 0 43 8 15.6863 FAM189A2 0 genome.wustl.edu 37 9 72006631 72006631 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 9 72006631 72006631 G A SNP FAM189A2 ENST00000257515 human ensembl 74_37 +1 known missense c.1264 p.G422R 0.967 NULL pfam_CD20-like - no_errors FAM189A2 HGNC ENSG00000135063 36 0 0 57 9 13.6364 VPS13A 0 genome.wustl.edu 37 9 79824435 79824435 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 9 79824435 79824435 G A SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.482 p.R161H 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 22 0 0 28 3 9.67742 OGN 0 genome.wustl.edu 37 9 95152246 95152246 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 9 95152246 95152246 G C SNP OGN ENST00000262551 human ensembl 74_37 -1 known missense c.520 p.L174V 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors OGN HGNC ENSG00000106809 112 0 0 56 43 43.4343 TBC1D8B 0 genome.wustl.edu 37 X 106083920 106083920 + Missense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 X 106083920 106083920 A T SNP TBC1D8B ENST00000357242 human ensembl 74_37 +1 known missense c.1525 p.T509S 0.932 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 94 0 0 46 44 48.8889 FRMPD3 0 genome.wustl.edu 37 X 106769952 106769952 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 X 106769952 106769952 G A SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known missense c.233 p.R78Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 55 0 0 28 32 53.3333 THOC2 0 genome.wustl.edu 37 X 122820398 122820398 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 X 122820398 122820398 C G SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known missense c.768 p.Q256H 1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 29 0 0 27 19 41.3043 THOC2 0 genome.wustl.edu 37 X 122829949 122829949 + Missense_Mutation SNP G G C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 X 122829949 122829949 G C SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known missense c.523 p.L175V 1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 24 0 0 15 23 60.5263 GPC4 0 genome.wustl.edu 37 X 132439865 132439865 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 X 132439865 132439865 G A SNP GPC4 ENST00000370828 human ensembl 74_37 -1 known missense c.1090 p.R364C 1.000 pfam_Glypican pfam_Glypican - no_errors GPC4 HGNC ENSG00000076716 206 0 0 107 121 53.0702 MAMLD1 0 genome.wustl.edu 37 X 149638353 149638353 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 X 149638353 149638353 C T SNP MAMLD1 ENST00000432680 human ensembl 74_37 +1 known missense c.433 p.P145S 0.006 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 62 0 0 38 51 57.3034 PASD1 0 genome.wustl.edu 37 X 150832640 150832640 + Silent SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 X 150832640 150832640 C T SNP PASD1 ENST00000370357 human ensembl 74_37 +1 known silent c.891 p.Y297 0.000 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 69 0 0 69 13 15.8537 FLNA 0 genome.wustl.edu 37 X 153580566 153580566 + Missense_Mutation SNP G G A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 X 153580566 153580566 G A SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.6752 p.A2251V 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 8 0 0 3 10 76.9231 GAB3 0 genome.wustl.edu 37 X 153925470 153925470 + Missense_Mutation SNP T T C TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 X 153925470 153925470 T C SNP GAB3 ENST00000424127 human ensembl 74_37 -1 known missense c.1364 p.D455G 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 41 0 0 30 35 53.8462 MAGEB6 0 genome.wustl.edu 37 X 26212099 26212099 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 X 26212099 26212099 C T SNP MAGEB6 ENST00000379034 human ensembl 74_37 +1 known missense c.136 p.R46C 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 56 0 0 37 14 27.451 SYTL5 0 genome.wustl.edu 37 X 37961644 37961644 + Missense_Mutation SNP A A T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 X 37961644 37961644 A T SNP SYTL5 ENST00000456733 human ensembl 74_37 +1 known missense c.1112 p.Q371L 0.002 NULL pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL5 HGNC ENSG00000147041 48 0 0 21 21 50 MAGED1 0 genome.wustl.edu 37 X 51640305 51640305 + Missense_Mutation SNP C C T TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 X 51640305 51640305 C T SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known missense c.1592 p.A531V 0.994 pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 50 0 0 21 22 51.1628 HEPH 0 genome.wustl.edu 37 X 65417541 65417541 + Silent SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 X 65417541 65417541 C A SNP HEPH ENST00000519389 human ensembl 74_37 +1 known silent c.1680 p.G560 0.232 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 34 0 0 22 19 46.3415 ZMYM3 0 genome.wustl.edu 37 X 70466474 70466474 + Missense_Mutation SNP T T A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 X 70466474 70466474 T A SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known missense c.2389 p.T797S 0.587 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 36 0 0 15 20 57.1429 SLC16A2 0 genome.wustl.edu 37 X 73749163 73749163 + Missense_Mutation SNP C C G TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 X 73749163 73749163 C G SNP SLC16A2 ENST00000276033 human ensembl 74_37 +1 known missense c.1508 p.T503S 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A2 HGNC ENSG00000147100 19 0 0 23 4 14.8148 KIAA2022 0 genome.wustl.edu 37 X 73960252 73960252 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 X 73960252 73960252 C A SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.4140 p.K1380N 0.962 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 96 0 0 79 5 5.95238 HDX 0 genome.wustl.edu 37 X 83576953 83576953 + Missense_Mutation SNP C C A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 X 83576953 83576953 C A SNP HDX ENST00000297977 human ensembl 74_37 -1 known missense c.2017 p.D673Y 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HDX HGNC ENSG00000165259 21 0 0 10 8 44.4444 LAD1 0 genome.wustl.edu 37 1 201354882 201354918 + Frame_Shift_Del DEL GCTGTGTGGGTGAGGACATATCTGCCTCTTCCTCCTT GCTGTGTGGGTGAGGACATATCTGCCTCTTCCTCCTT - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 GCTGTGTGGGTGAGGACATATCTGCCTCTTCCTCCTT GCTGTGTGGGTGAGGACATATCTGCCTCTTCCTCCTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 201354882 201354918 GCTGTGTGGGTGAGGACATATCTGCCTCTTCCTCCTT - DEL LAD1 ENST00000367313 human ensembl 74_37 -1 known frame_shift_del c.1120_1084 p.K362fs 0.016:0.034:0.038:0.076:0.075:0.204:0.241:0.240:0.633:0.636:0.320:0.617:0.601:0.111:0.004:0.000:0.000:0.000:0.000:0.000:0.010:0.009:0.000:0.000:0.000:0.000:0.046:0.051:0.025:0.185:0.426:0.476:0.955:0.974:0.970:0.967:0.995 pirsf_Ladinin_1 pirsf_Ladinin_1 - no_errors LAD1 HGNC ENSG00000159166 161 0 0 133 11 7.63889 ARHGAP29 0 genome.wustl.edu 37 1 94643575 94643601 + In_Frame_Del DEL ACTCTACCAAGCGTGCTTGATTTGAAT ACTCTACCAAGCGTGCTTGATTTGAAT - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 ACTCTACCAAGCGTGCTTGATTTGAAT ACTCTACCAAGCGTGCTTGATTTGAAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 1 94643575 94643601 ACTCTACCAAGCGTGCTTGATTTGAAT - DEL ARHGAP29 ENST00000260526 human ensembl 74_37 -1 known in_frame_del c.2629_2603 p.YSNQARLVE868in_frame_del 1.000:1.000:1.000:1.000:0.059:0.973:0.971:0.340:0.410:0.000:0.000:0.084:0.066:0.002:0.999:1.000:1.000:1.000:1.000:0.582:0.576:0.430:0.020:0.990:0.986:0.941:1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 109 0 0 67 12 15.1899 OR52N5 0 genome.wustl.edu 37 11 5798936 5798956 + In_Frame_Del DEL CGTATCTGTTTTGTCTTTACT CGTATCTGTTTTGTCTTTACT - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 CGTATCTGTTTTGTCTTTACT CGTATCTGTTTTGTCTTTACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 5798936 5798956 CGTATCTGTTTTGTCTTTACT - DEL OR52N5 ENST00000317093 human ensembl 74_37 -1 known in_frame_del c.929_909 p.VKTKQIR304in_frame_del 0.003:0.000:0.004:0.921:0.937:0.941:0.991:0.997:0.986:1.000:1.000:0.995:0.997:0.981:0.158:0.144:0.116:0.008:0.054:0.005:0.003 prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N5 HGNC ENSG00000181009 103 0 0 80 9 10.1124 CCDC83 0 genome.wustl.edu 37 11 85593584 85593592 + In_Frame_Del DEL GGCACATAC GGCACATAC - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 GGCACATAC GGCACATAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 11 85593584 85593592 GGCACATAC - DEL CCDC83 ENST00000280245 human ensembl 74_37 +1 known in_frame_del c.209_217 p.IRH72in_frame_del 0.992:1.000:1.000:1.000:0.985:0.579:0.575:0.170:0.014 NULL NULL - no_errors CCDC83 HGNC ENSG00000150676 119 0 0 79 15 15.9574 CABP1 0 genome.wustl.edu 37 12 121088444 121088465 + Frame_Shift_Del DEL GGCAACTGTGTCAAGTATCCAC GGCAACTGTGTCAAGTATCCAC - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 GGCAACTGTGTCAAGTATCCAC GGCAACTGTGTCAAGTATCCAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 121088444 121088465 GGCAACTGTGTCAAGTATCCAC - DEL CABP1 ENST00000288616 human ensembl 74_37 +1 known frame_shift_del c.4_25 p.G2fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.994:1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP1 HGNC ENSG00000157782 111 0 0 94 15 13.7615 SYT10 0 genome.wustl.edu 37 12 33560234 33560234 + Frame_Shift_Del DEL A A - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 12 33560234 33560234 A - DEL SYT10 ENST00000228567 human ensembl 74_37 -1 known frame_shift_del c.567 p.F189fs 0.997 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 133 0 0 139 16 10.3226 TM9SF2 0 genome.wustl.edu 37 13 100181797 100181816 + Frame_Shift_Del DEL AAAAGTTAGAATTCTTGAAA AAAAGTTAGAATTCTTGAAA - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 AAAAGTTAGAATTCTTGAAA AAAAGTTAGAATTCTTGAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 13 100181797 100181816 AAAAGTTAGAATTCTTGAAA - DEL TM9SF2 ENST00000376387 human ensembl 74_37 +1 known frame_shift_del c.410_429 p.L139fs 1.000:0.999:1.000:1.000:0.981:0.996:1.000:1.000:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF2 HGNC ENSG00000125304 108 0 0 102 12 10.5263 IRS2 0 genome.wustl.edu 37 13 110434390 110434390 + Frame_Shift_Del DEL T T - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 13 110434390 110434390 T - DEL IRS2 ENST00000375856 human ensembl 74_37 -1 known frame_shift_del c.4011 p.E1338fs 1.000 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS2 HGNC ENSG00000185950 50 0 0 55 7 11.2903 KBTBD7 0 genome.wustl.edu 37 13 41766424 41766437 + Frame_Shift_Del DEL CCTGACTCAGAGTC CCTGACTCAGAGTC - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 CCTGACTCAGAGTC CCTGACTCAGAGTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 13 41766424 41766437 CCTGACTCAGAGTC - DEL KBTBD7 ENST00000379483 human ensembl 74_37 -1 known frame_shift_del c.1970_1957 p.D653fs 1.000:1.000:0.944:1.000:1.000:1.000:1.000:1.000:0.910:0.999:1.000:1.000:1.000:1.000 NULL pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD7 HGNC ENSG00000120696 116 0 0 173 18 9.42408 MMP14 0 genome.wustl.edu 37 14 23311122 23311132 + Frame_Shift_Del DEL GGCCATGAGGC GGCCATGAGGC - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 GGCCATGAGGC GGCCATGAGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 14 23311122 23311132 GGCCATGAGGC - DEL MMP14 ENST00000311852 human ensembl 74_37 +1 known frame_shift_del c.258_268 p.A87fs 1.000:1.000:1.000:0.995:1.000:1.000:1.000:1.000:0.998:1.000:1.000 pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP14 HGNC ENSG00000157227 111 0 0 79 9 10.2273 SYNE2 0 genome.wustl.edu 37 14 64554530 64554531 + Frame_Shift_Ins INS - - A TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 14 64554530 64554531 - A INS SYNE2 ENST00000358025 human ensembl 74_37 +1 known frame_shift_ins c.11626_11627 p.I3878fs 0.998:1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 65 0 0 51 16 23.8806 GRIN2C 0 genome.wustl.edu 37 17 72848621 72848626 + In_Frame_Del DEL GCGCGT GCGCGT - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 GCGCGT GCGCGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 17 72848621 72848626 GCGCGT - DEL GRIN2C ENST00000293190 human ensembl 74_37 -1 known in_frame_del c.529_524 p.HA175in_frame_del 0.851:0.787:0.814:0.836:0.997:1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 23 0 0 5 3 37.5 COBLL1 0 genome.wustl.edu 37 2 165550830 165550830 + Frame_Shift_Del DEL A A - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 165550830 165550830 A - DEL COBLL1 ENST00000194871 human ensembl 74_37 -1 known frame_shift_del c.3387 p.H1130fs 0.000 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 101 0 0 122 13 9.62963 SCN1A 0 genome.wustl.edu 37 2 166903444 166903445 + Frame_Shift_Del DEL AT AT - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 2 166903444 166903445 AT - DEL SCN1A ENST00000303395 human ensembl 74_37 -1 known frame_shift_del c.1213_1212 p.L405fs 1.000:0.996 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 145 0 0 114 28 19.7183 KALRN 0 genome.wustl.edu 37 3 124437938 124437950 + Frame_Shift_Del DEL CAGACATCTGGAG CAGACATCTGGAG - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 CAGACATCTGGAG CAGACATCTGGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 3 124437938 124437950 CAGACATCTGGAG - DEL KALRN ENST00000360013 human ensembl 74_37 +1 known frame_shift_del c.8582_8594 p.D2862fs 1.000:0.351:1.000:1.000:0.994:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 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_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 60 0 0 41 14 25.4545 PCDHA1 0 genome.wustl.edu 37 5 140167654 140167677 + In_Frame_Del DEL GGTGCGCGCAGTGGACGCCGACTC GGTGCGCGCAGTGGACGCCGACTC - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 GGTGCGCGCAGTGGACGCCGACTC GGTGCGCGCAGTGGACGCCGACTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 5 140167654 140167677 GGTGCGCGCAGTGGACGCCGACTC - DEL PCDHA1 ENST00000504120 human ensembl 74_37 +1 known in_frame_del c.1779_1802 p.VRAVDADS594in_frame_del 0.992:0.985:0.982:0.117:0.092:0.070:0.053:0.995:0.995:0.272:0.685:0.897:0.962:1.000:1.000:0.949:0.971:0.971:0.364:0.996:0.996:0.939:0.901:0.893 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 123 0 0 89 9 9.18367 TAAR1 0 genome.wustl.edu 37 6 132967012 132967043 + Frame_Shift_Del DEL ACTATCAGATTGCCAACGAGTGTGGTCAGAAT ACTATCAGATTGCCAACGAGTGTGGTCAGAAT - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 ACTATCAGATTGCCAACGAGTGTGGTCAGAAT ACTATCAGATTGCCAACGAGTGTGGTCAGAAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 132967012 132967043 ACTATCAGATTGCCAACGAGTGTGGTCAGAAT - DEL TAAR1 ENST00000275216 human ensembl 74_37 -1 known frame_shift_del c.131_100 p.I34fs 1.000:1.000:0.850:0.978:0.983:0.986:1.000:1.000:1.000:1.000:1.000:0.975:1.000:1.000:0.002:0.001:0.005:0.010:0.095:0.050:0.055:1.000:1.000:0.080:0.081:0.030:0.015:0.930:0.918:0.900:0.942:0.930 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_TAAR1,prints_TAAR_fam,pfscan_GPCR_Rhodpsn_7TM - no_errors TAAR1 HGNC ENSG00000146399 149 0 0 160 9 5.32544 ABRACL 0 genome.wustl.edu 37 6 139355334 139355358 + Frame_Shift_Del DEL GAAATTCATCGTTTGGGTTCAAAAA GAAATTCATCGTTTGGGTTCAAAAA - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 GAAATTCATCGTTTGGGTTCAAAAA GAAATTCATCGTTTGGGTTCAAAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 139355334 139355358 GAAATTCATCGTTTGGGTTCAAAAA - DEL ABRACL ENST00000367660 human ensembl 74_37 +1 known frame_shift_del c.37_61 p.E13fs 1.000:1.000:1.000:1.000:1.000:0.998:1.000:0.999:0.991:1.000:1.000:0.975:0.988:0.998:0.988:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL NULL - no_errors ABRACL HGNC ENSG00000146386 61 0 0 64 8 11.1111 ZSCAN16 0 genome.wustl.edu 37 6 28097226 28097243 + In_Frame_Del DEL AGAATGAAGAGTTGTTCC AGAATGAAGAGTTGTTCC - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 AGAATGAAGAGTTGTTCC AGAATGAAGAGTTGTTCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 6 28097226 28097243 AGAATGAAGAGTTGTTCC - DEL ZSCAN16 ENST00000340487 human ensembl 74_37 +1 known in_frame_del c.545_562 p.NEELFQ183in_frame_del 0.003:0.001:0.000:0.000:0.000:0.002:0.002:0.012:0.016:0.009:0.002:0.000:0.000:0.000:0.000:0.000:0.013:0.016 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN16 HGNC ENSG00000196812 53 0 0 49 7 12.5 CNOT4 0 genome.wustl.edu 37 7 135122926 135122932 + Frame_Shift_Del DEL GCCCATT GCCCATT - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 GCCCATT GCCCATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 135122926 135122932 GCCCATT - DEL CNOT4 ENST00000541284 human ensembl 74_37 -1 known frame_shift_del c.154_148 p.N50fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfscan_Znf_RING pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom - no_errors CNOT4 HGNC ENSG00000080802 78 0 0 75 6 7.40741 ABCA13 0 genome.wustl.edu 37 7 48443297 48443301 + Frame_Shift_Del DEL ACTTA ACTTA - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 ACTTA ACTTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 7 48443297 48443301 ACTTA - DEL ABCA13 ENST00000435803 human ensembl 74_37 +1 known frame_shift_del c.11891_11895 p.L3965fs 0.002:0.001:0.001:0.117:0.010 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 47 0 0 35 10 22.2222 PI15 0 genome.wustl.edu 37 8 75757475 75757487 + Frame_Shift_Del DEL ATGTGCACACATT ATGTGCACACATT - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 ATGTGCACACATT ATGTGCACACATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 8 75757475 75757487 ATGTGCACACATT - DEL PI15 ENST00000260113 human ensembl 74_37 +1 known frame_shift_del c.505_517 p.M169fs 1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI15 HGNC ENSG00000137558 183 0 0 165 16 8.83978 ABCA1 0 genome.wustl.edu 37 9 107599709 107599740 + Frame_Shift_Del DEL CTCAGCCATGACCTGCCTTGTGGCTGGAGTGT CTCAGCCATGACCTGCCTTGTGGCTGGAGTGT - TCGA-CG-4437-01A-01D-1800-08 TCGA-CG-4437-10A-01D-1800-08 CTCAGCCATGACCTGCCTTGTGGCTGGAGTGT CTCAGCCATGACCTGCCTTGTGGCTGGAGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c7af611a-7351-4fe8-b3b3-fabe89a44ea6 cd37ded9-4afc-410a-b58b-e20900435be4 9 107599709 107599740 CTCAGCCATGACCTGCCTTGTGGCTGGAGTGT - DEL ABCA1 ENST00000374736 human ensembl 74_37 -1 known frame_shift_del c.1194_1163 p.D388fs 1.000:1.000:1.000:0.997:1.000:1.000:1.000:1.000:1.000:0.913:0.974:0.933:0.859:0.850:0.967:0.973:0.999:1.000:0.967:1.000:1.000:0.977:0.995:1.000:0.999:1.000:1.000:0.994:1.000:1.000:1.000:1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 57 0 0 49 6 10.9091