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 RTCA 0 genome.wustl.edu 37 1 100741243 100741243 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 100741243 100741243 C T SNP RTCA ENST00000260563 human ensembl 74_37 +1 known missense c.743 p.P248L 1.000 pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'-term_phos_cycl_insert,superfamily_RNA3'-term_phos_cycl_insert,tigrfam_RNA3'_term_phos_cyc_type_1 pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'-term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,superfamily_RNA3'-term_phos_cycl_insert,tigrfam_RNA3'_term_phos_cyc_type_1 - no_errors RTCA HGNC ENSG00000137996 121 0 0 80 8 9.09091 GPSM2 0 genome.wustl.edu 37 1 109465061 109465061 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 109465061 109465061 G C SNP GPSM2 ENST00000264126 human ensembl 74_37 +1 known missense c.1463 p.G488A 1.000 NULL pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM2 HGNC ENSG00000121957 150 0 0 103 10 8.84956 KCND3 0 genome.wustl.edu 37 1 112525166 112525166 + Nonsense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 112525166 112525166 G C SNP KCND3 ENST00000315987 human ensembl 74_37 -1 known nonsense c.183 p.Y61* 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 136 0 0 70 8 10.2564 VTCN1 0 genome.wustl.edu 37 1 117699584 117699584 + RNA SNP T T G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 117699584 117699584 T G SNP VTCN1 ENST00000463461 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors VTCN1 HGNC ENSG00000134258 79 0 0 38 6 13.6364 PDZK1 0 genome.wustl.edu 37 1 145747082 145747082 + Silent SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 145747082 145747082 C G SNP PDZK1 ENST00000344770 human ensembl 74_37 +1 known silent c.39 p.S13 0.982 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZK1 HGNC ENSG00000174827 339 0 0 211 12 5.38117 SV2A 0 genome.wustl.edu 37 1 149882377 149882377 + Splice_Site SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 149882377 149882377 C A SNP SV2A ENST00000369146 human ensembl 74_37 -1 known splice_site c.955+1 e3+1 1.000 - - - no_errors SV2A HGNC ENSG00000159164 108 0 0 53 4 7.01754 C1orf56 0 genome.wustl.edu 37 1 151020376 151020376 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 151020376 151020376 C T SNP C1orf56 ENST00000368926 human ensembl 74_37 +1 known missense c.53 p.P18L 0.010 NULL superfamily_Thrombospondin_1_rpt - no_errors C1orf56 HGNC ENSG00000143443 28 0 0 29 3 9.375 THEM5 0 genome.wustl.edu 37 1 151820670 151820670 + Missense_Mutation SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 151820670 151820670 A T SNP THEM5 ENST00000368817 human ensembl 74_37 -1 known missense c.563 p.I188N 1.000 pfam_Thioestr_supf pfam_Thioestr_supf - no_errors THEM5 HGNC ENSG00000196407 232 0 0 120 39 24.5283 KAZN 0 genome.wustl.edu 37 1 15386779 15386779 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 15386779 15386779 G A SNP KAZN ENST00000376030 human ensembl 74_37 +1 known missense c.1028 p.R343Q 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 355 0 0 153 20 11.5607 CRTC2 0 genome.wustl.edu 37 1 153920629 153920629 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 153920629 153920629 C G SNP CRTC2 ENST00000368633 human ensembl 74_37 -1 known missense c.2038 p.D680H 0.997 NULL NULL - no_errors CRTC2 HGNC ENSG00000160741 123 0 0 73 4 5.19481 ADAM15 0 genome.wustl.edu 37 1 155034398 155034398 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 155034398 155034398 C T SNP ADAM15 ENST00000356955 human ensembl 74_37 +1 known missense c.2371 p.P791S 1.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ENSG00000143537 386 1 0.258398 198 11 5.26316 GBA 0 genome.wustl.edu 37 1 155208400 155208400 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 155208400 155208400 C T SNP GBA ENST00000327247 human ensembl 74_37 -1 known missense c.496 p.D166N 1.000 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 - no_errors GBA HGNC ENSG00000177628 173 0 0 87 5 5.43478 KIAA0907 0 genome.wustl.edu 37 1 155895441 155895441 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 155895441 155895441 G C SNP KIAA0907 ENST00000368321 human ensembl 74_37 -1 known missense c.875 p.P292R 1.000 NULL NULL - no_errors KIAA0907 HGNC ENSG00000132680 202 0 0 137 15 9.86842 ARHGEF2 0 genome.wustl.edu 37 1 155935499 155935499 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 155935499 155935499 C T SNP ARHGEF2 ENST00000368315 human ensembl 74_37 -1 known silent c.396 p.R132 0.979 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 105 0 0 48 9 15.7895 FCRL3 0 genome.wustl.edu 37 1 157667565 157667565 + Missense_Mutation SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 157667565 157667565 T C SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.443 p.K148R 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 209 0 0 172 18 9.47368 OR10K1 0 genome.wustl.edu 37 1 158435864 158435864 + Silent SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 158435864 158435864 C A SNP OR10K1 ENST00000289451 human ensembl 74_37 +1 known silent c.513 p.S171 0.332 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K1 HGNC ENSG00000173285 367 0 0 322 18 5.29412 SPTA1 0 genome.wustl.edu 37 1 158581078 158581078 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 158581078 158581078 G T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.7236 p.F2412L 1.000 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 71 0 0 77 10 11.4943 IFI16 0 genome.wustl.edu 37 1 158985728 158985728 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 158985728 158985728 C G SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.332 p.T111R 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 91 0 0 58 4 6.45161 ATF6 0 genome.wustl.edu 37 1 161753838 161753838 + Silent SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 161753838 161753838 C G SNP ATF6 ENST00000367942 human ensembl 74_37 +1 known silent c.306 p.V102 0.861 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF6 HGNC ENSG00000118217 256 0 0 170 12 6.59341 POU2F1 0 genome.wustl.edu 37 1 167334762 167334762 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 167334762 167334762 C G SNP POU2F1 ENST00000367866 human ensembl 74_37 +1 known missense c.186 p.I62M 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F1 HGNC ENSG00000143190 92 0 0 64 7 9.85915 TIPRL 0 genome.wustl.edu 37 1 168165873 168165873 + Missense_Mutation SNP A A C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 168165873 168165873 A C SNP TIPRL ENST00000367833 human ensembl 74_37 +1 known missense c.605 p.Y202S 1.000 pfam_TIP41-like pfam_TIP41-like - no_errors TIPRL HGNC ENSG00000143155 80 0 0 57 6 9.52381 NME7 0 genome.wustl.edu 37 1 169267893 169267893 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 169267893 169267893 C T SNP NME7 ENST00000367811 human ensembl 74_37 -1 known silent c.549 p.V183 0.994 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK7 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase - no_errors NME7 HGNC ENSG00000143156 110 0 0 63 7 10 F5 0 genome.wustl.edu 37 1 169511612 169511612 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 169511612 169511612 G A SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.2716 p.P906S 0.045 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 214 0 0 167 21 11.1702 SELP 0 genome.wustl.edu 37 1 169580849 169580849 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 169580849 169580849 G T SNP SELP ENST00000263686 human ensembl 74_37 -1 known missense c.1028 p.A343D 0.254 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 234 0 0 90 15 14.2857 FASLG 0 genome.wustl.edu 37 1 172635113 172635113 + Missense_Mutation SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 172635113 172635113 A T SNP FASLG ENST00000367721 human ensembl 74_37 +1 known missense c.803 p.N268I 0.705 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_FASL,prints_TNF_C pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_FASL,prints_TNF,prints_TNF_C - no_errors FASLG HGNC ENSG00000117560 109 0 0 87 10 10.3093 TNN 0 genome.wustl.edu 37 1 175087841 175087841 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 175087841 175087841 G T SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.2531 p.G844V 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 173 0 0 63 5 7.35294 MR1 0 genome.wustl.edu 37 1 181022743 181022743 + Silent SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 181022743 181022743 C G SNP MR1 ENST00000367580 human ensembl 74_37 +1 known silent c.915 p.V305 0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors MR1 HGNC ENSG00000153029 164 0 0 62 7 10.1449 PTGS2 0 genome.wustl.edu 37 1 186645623 186645623 + Nonsense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 186645623 186645623 G A SNP PTGS2 ENST00000367468 human ensembl 74_37 -1 known nonsense c.946 p.Q316* 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS2 HGNC ENSG00000073756 187 0 0 123 12 8.88889 BRINP3 0 genome.wustl.edu 37 1 190195232 190195232 + Missense_Mutation SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 190195232 190195232 T C SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.941 p.N314S 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 47 0 0 45 10 18.1818 RGS18 0 genome.wustl.edu 37 1 192127852 192127852 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 192127852 192127852 G A SNP RGS18 ENST00000367460 human ensembl 74_37 +1 known missense c.85 p.G29R 0.974 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS18 HGNC ENSG00000150681 72 0 0 53 13 19.697 CAMSAP2 0 genome.wustl.edu 37 1 200819236 200819236 + Missense_Mutation SNP T T G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 200819236 200819236 T G SNP CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known missense c.3372 p.I1124M 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 195 0 0 115 29 20.1389 LRRN2 0 genome.wustl.edu 37 1 204588700 204588700 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 204588700 204588700 C G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.421 p.A141P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 315 0 0 102 27 20.9302 CR1 0 genome.wustl.edu 37 1 207697126 207697126 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 207697126 207697126 G A SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.658 p.D220N 0.000 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 CR1 HGNC ENSG00000203710 56 0 0 44 7 13.7255 CENPF 0 genome.wustl.edu 37 1 214795534 214795534 + Missense_Mutation SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 214795534 214795534 A T SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.978 p.K326N 0.008 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 140 0 0 49 8 14.0351 USH2A 0 genome.wustl.edu 37 1 215848522 215848522 + Missense_Mutation SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 215848522 215848522 T C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.12731 p.N4244S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 64 0 0 63 9 12.5 ESRRG 0 genome.wustl.edu 37 1 216680463 216680463 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 216680463 216680463 G A SNP ESRRG ENST00000408911 human ensembl 74_37 -1 known silent c.1195 p.L399 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC ENSG00000196482 126 0 0 102 17 14.2857 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 407 0 0 104 51 32.9032 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 228434292 228434292 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3821 p.A1274G 0.014 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 179 1 0.555556 36 27 42.8571 OBSCN 0 genome.wustl.edu 37 1 228491466 228491466 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 228491466 228491466 C A SNP OBSCN ENST00000366707 human ensembl 74_37 +1 known missense c.3899 p.A1300D 0.162 pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 225 0 0 96 24 20 URB2 0 genome.wustl.edu 37 1 229772997 229772997 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 229772997 229772997 G A SNP URB2 ENST00000258243 human ensembl 74_37 +1 known silent c.2637 p.K879 0.006 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 192 0 0 122 16 11.5942 LYST 0 genome.wustl.edu 37 1 235976313 235976313 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 235976313 235976313 G C SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.241 p.P81A 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 66 0 0 40 4 9.09091 OPN3 0 genome.wustl.edu 37 1 241761205 241761205 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 241761205 241761205 G A SNP OPN3 ENST00000366554 human ensembl 74_37 -1 known missense c.788 p.T263I 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OPN3 HGNC ENSG00000054277 209 0 0 93 23 19.8276 MYOM3 0 genome.wustl.edu 37 1 24392325 24392325 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 24392325 24392325 C T SNP MYOM3 ENST00000329601 human ensembl 74_37 -1 known missense c.3596 p.R1199K 0.005 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 60 0 0 29 3 9.375 OR2L3 0 genome.wustl.edu 37 1 248224783 248224783 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 248224783 248224783 C A SNP OR2L3 ENST00000359959 human ensembl 74_37 +1 known missense c.800 p.P267Q 0.004 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 OR2L3 HGNC ENSG00000198128 183 0 0 121 11 8.33333 PGBD2 0 genome.wustl.edu 37 1 249212076 249212076 + Silent SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 249212076 249212076 G T SNP PGBD2 ENST00000329291 human ensembl 74_37 +1 known silent c.1293 p.V431 0.016 NULL NULL - no_errors PGBD2 HGNC ENSG00000185220 86 0 0 69 7 9.21053 HMGN2 0 genome.wustl.edu 37 1 26801762 26801762 + RNA SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 26801762 26801762 G T SNP HMGN2 ENST00000460563 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC ENSG00000198830 10 0 0 7 9 56.25 CSMD2 0 genome.wustl.edu 37 1 34049315 34049315 + Silent SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 34049315 34049315 G C SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.7167 p.P2389 0.020 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 215 0 0 126 14 10 MACF1 0 genome.wustl.edu 37 1 39797109 39797109 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 39797109 39797109 G C SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative missense c.4960 p.D1654H 1.000 superfamily_RNaseH-like_dom,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 219 0 0 104 13 11.1111 RLF 0 genome.wustl.edu 37 1 40704491 40704491 + Missense_Mutation SNP T T G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 40704491 40704491 T G SNP RLF ENST00000372771 human ensembl 74_37 +1 known missense c.4117 p.F1373V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 128 0 0 70 5 6.66667 TIE1 0 genome.wustl.edu 37 1 43774661 43774661 + Silent SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 43774661 43774661 G T SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known silent c.1047 p.R349 0.998 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 123 0 0 61 6 8.95522 TIE1 0 genome.wustl.edu 37 1 43783012 43783012 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 43783012 43783012 G T SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.2552 p.G851V 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 198 0 0 76 7 8.43373 MAST2 0 genome.wustl.edu 37 1 46495141 46495141 + Missense_Mutation SNP A A C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 46495141 46495141 A C SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known missense c.2222 p.E741A 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_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 92 0 0 36 5 12.1951 PODN 0 genome.wustl.edu 37 1 53542984 53542984 + Missense_Mutation SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 53542984 53542984 A T SNP PODN ENST00000312553 human ensembl 74_37 +1 known missense c.848 p.H283L 1.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors PODN HGNC ENSG00000174348 295 0 0 120 9 6.97674 LRRC7 0 genome.wustl.edu 37 1 70303923 70303923 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 70303923 70303923 C T SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.490 p.R164W 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 69 0 0 52 5 8.77193 LRRC8B 0 genome.wustl.edu 37 1 90058373 90058373 + Missense_Mutation SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 90058373 90058373 A G SNP LRRC8B ENST00000330947 human ensembl 74_37 +1 known missense c.2183 p.Q728R 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC ENSG00000197147 154 0 0 99 9 8.33333 PKD2L1 0 genome.wustl.edu 37 10 102056924 102056924 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 10 102056924 102056924 G A SNP PKD2L1 ENST00000318222 human ensembl 74_37 -1 known missense c.998 p.S333F 1.000 pfam_PKD1_2_channel pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC ENSG00000107593 185 0 0 87 8 8.42105 SEMA4G 0 genome.wustl.edu 37 10 102739929 102739929 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 10 102739929 102739929 G A SNP SEMA4G ENST00000210633 human ensembl 74_37 +1 known silent c.1179 p.L393 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4G HGNC ENSG00000095539 86 0 0 48 6 11.1111 ADRA2A 0 genome.wustl.edu 37 10 112838907 112838907 + Missense_Mutation SNP A A C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 10 112838907 112838907 A C SNP ADRA2A ENST00000280155 human ensembl 74_37 +1 known missense c.1153 p.K385Q 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_Musac_Ach_rcpt - no_errors ADRA2A HGNC ENSG00000150594 68 0 0 59 6 9.23077 TCF7L2 0 genome.wustl.edu 37 10 114799863 114799863 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 10 114799863 114799863 C A SNP TCF7L2 ENST00000355995 human ensembl 74_37 +1 known missense c.530 p.S177Y 1.000 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L2 HGNC ENSG00000148737 93 0 0 47 14 22.9508 GFRA1 0 genome.wustl.edu 37 10 117884837 117884837 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 10 117884837 117884837 G T SNP GFRA1 ENST00000355422 human ensembl 74_37 -1 known missense c.665 p.T222K 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC ENSG00000151892 71 0 0 43 18 29.5082 BTBD16 0 genome.wustl.edu 37 10 124036316 124036316 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 10 124036316 124036316 G A SNP BTBD16 ENST00000368994 human ensembl 74_37 +1 known missense c.32 p.R11Q 0.032 NULL superfamily_BTB/POZ_fold - no_errors BTBD16 HGNC ENSG00000138152 120 0 0 73 8 9.87654 OPTN 0 genome.wustl.edu 37 10 13154606 13154606 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 10 13154606 13154606 G C SNP OPTN ENST00000263036 human ensembl 74_37 +1 known missense c.523 p.E175Q 0.973 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 196 0 0 99 8 7.47664 PTER 0 genome.wustl.edu 37 10 16553049 16553049 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 10 16553049 16553049 C T SNP PTER ENST00000298942 human ensembl 74_37 +1 known missense c.844 p.R282C 0.996 pfam_Aryldialkylphosphatase pfam_Aryldialkylphosphatase,pfam_TatD_family - no_errors PTER HGNC ENSG00000165983 27 0 0 18 5 21.7391 VIM 0 genome.wustl.edu 37 10 17277193 17277193 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 10 17277193 17277193 G A SNP VIM ENST00000224237 human ensembl 74_37 +1 known missense c.1034 p.R345H 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors VIM HGNC ENSG00000026025 110 0 0 58 8 12.1212 ARHGAP21 0 genome.wustl.edu 37 10 24874802 24874802 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 10 24874802 24874802 G A SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known silent c.4416 p.I1472 0.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 298 0 0 175 24 12.0603 GDF10 0 genome.wustl.edu 37 10 48438481 48438481 + Missense_Mutation SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 10 48438481 48438481 A G SNP GDF10 ENST00000224605 human ensembl 74_37 -1 known missense c.230 p.V77A 0.998 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors GDF10 HGNC ENSG00000107623 33 0 0 2 4 66.6667 CHAT 0 genome.wustl.edu 37 10 50872977 50872977 + Missense_Mutation SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 10 50872977 50872977 T C SNP CHAT ENST00000337653 human ensembl 74_37 +1 known missense c.2132 p.V711A 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 311 0 0 168 20 10.6383 PCDH15 0 genome.wustl.edu 37 10 55955580 55955580 + Missense_Mutation SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 10 55955580 55955580 T A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.1168 p.N390Y 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 108 0 0 64 9 12.3288 FAM13C 0 genome.wustl.edu 37 10 61029744 61029744 + Silent SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 10 61029744 61029744 G T SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known silent c.718 p.R240 0.999 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 79 0 0 47 5 9.61538 TMEM26 0 genome.wustl.edu 37 10 63170177 63170177 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 10 63170177 63170177 G A SNP TMEM26 ENST00000399298 human ensembl 74_37 -1 known missense c.1010 p.P337L 0.000 NULL pfam_Transmembrane_26 - no_errors TMEM26 HGNC ENSG00000196932 104 1 0.952381 76 5 6.17284 CCAR1 0 genome.wustl.edu 37 10 70507010 70507010 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 10 70507010 70507010 G A SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.611 p.R204K 1.000 superfamily_NA-bd_OB-fold pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 143 0 0 59 5 7.8125 OPN4 0 genome.wustl.edu 37 10 88419067 88419067 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 10 88419067 88419067 C T SNP OPN4 ENST00000372071 human ensembl 74_37 +1 known silent c.675 p.P225 0.669 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN4 HGNC ENSG00000122375 154 0 0 60 5 7.69231 TM9SF3 0 genome.wustl.edu 37 10 98325076 98325076 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 10 98325076 98325076 C T SNP TM9SF3 ENST00000371142 human ensembl 74_37 -1 known missense c.406 p.D136N 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 166 0 0 134 16 10.6667 SBF2 0 genome.wustl.edu 37 11 10024150 10024150 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 10024150 10024150 C T SNP SBF2 ENST00000256190 human ensembl 74_37 -1 known missense c.706 p.D236N 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 82 0 0 55 6 9.83607 MUC6 0 genome.wustl.edu 37 11 1030228 1030228 + Missense_Mutation SNP A A C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 1030228 1030228 A C SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.1000 p.C334G 1.000 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,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 MUC6 HGNC ENSG00000184956 12 0 0 0 4 100 CASP4 0 genome.wustl.edu 37 11 104825631 104825631 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 104825631 104825631 C T SNP CASP4 ENST00000444739 human ensembl 74_37 -1 known silent c.105 p.L35 0.002 pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP4 HGNC ENSG00000196954 137 0 0 76 10 11.6279 AMPD3 0 genome.wustl.edu 37 11 10506555 10506555 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 10506555 10506555 C T SNP AMPD3 ENST00000396553 human ensembl 74_37 +1 known missense c.778 p.H260Y 1.000 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 60 0 0 41 5 10.8696 CEP164 0 genome.wustl.edu 37 11 117261589 117261589 + Silent SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 117261589 117261589 C G SNP CEP164 ENST00000278935 human ensembl 74_37 +1 known silent c.2031 p.V677 0.094 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 156 0 0 67 9 11.8421 DDX6 0 genome.wustl.edu 37 11 118630742 118630742 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 118630742 118630742 C G SNP DDX6 ENST00000264018 human ensembl 74_37 -1 known missense c.753 p.L251F 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX6 HGNC ENSG00000110367 79 0 0 35 8 18.6047 SPTY2D1 0 genome.wustl.edu 37 11 18636837 18636837 + Silent SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 18636837 18636837 A T SNP SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known silent c.984 p.S328 0.085 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 411 0 0 202 18 8.18182 IGSF22 0 genome.wustl.edu 37 11 18738373 18738373 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 18738373 18738373 G A SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known missense c.1148 p.T383M 1.000 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF22 HGNC ENSG00000179057 296 0 0 167 15 8.24176 NELL1 0 genome.wustl.edu 37 11 21250984 21250984 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 21250984 21250984 C T SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known silent c.1533 p.N511 0.872 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_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 80 0 0 40 9 18.3673 OSBPL5 0 genome.wustl.edu 37 11 3129140 3129140 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 3129140 3129140 G A SNP OSBPL5 ENST00000263650 human ensembl 74_37 -1 known missense c.727 p.R243C 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 56 0 0 31 2 6.06061 PAX6 0 genome.wustl.edu 37 11 31815288 31815288 + Silent SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 31815288 31815288 T C SNP PAX6 ENST00000379107 human ensembl 74_37 -1 known silent c.870 p.R290 0.941 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 196 0 0 108 11 9.2437 PAX6 0 genome.wustl.edu 37 11 31816307 31816307 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 31816307 31816307 C G SNP PAX6 ENST00000379107 human ensembl 74_37 -1 known missense c.595 p.E199Q 0.999 superfamily_Homeodomain-like pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 137 0 0 64 10 13.5135 ENSG00000221019 0 genome.wustl.edu 37 11 3578685 3578685 + RNA SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 3578685 3578685 T C SNP ENSG00000221019 ENST00000408092 human ensembl 74_37 +1 novel rna NULL NULL 0.075 - - - no_errors AC127526.1 Clone_based_ensembl_gene ENSG00000221019 251 0 0 126 21 14.2857 C11orf74 0 genome.wustl.edu 37 11 36680701 36680701 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 36680701 36680701 G A SNP C11orf74 ENST00000334307 human ensembl 74_37 +1 known missense c.631 p.D211N 0.000 NULL NULL - no_errors C11orf74 HGNC ENSG00000166352 104 0 0 50 4 7.40741 RRM1 0 genome.wustl.edu 37 11 4156468 4156468 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 4156468 4156468 C G SNP RRM1 ENST00000300738 human ensembl 74_37 +1 known missense c.2158 p.L720V 1.000 pfam_RNR_lg_C,tigrfam_NrdE_NrdA pfam_RNR_lg_C,pfam_RNR_lsu_N,pfam_ATP-cone,superfamily_RNR_R1-su_N,pfscan_ATP-cone,prints_RNR_lg_C,tigrfam_NrdE_NrdA - no_errors RRM1 HGNC ENSG00000167325 102 0 0 54 6 10 TSPAN18 0 genome.wustl.edu 37 11 44931284 44931284 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 44931284 44931284 G A SNP TSPAN18 ENST00000340160 human ensembl 74_37 +1 known missense c.92 p.G31D 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN18 HGNC ENSG00000157570 187 1 0.531915 64 8 11.1111 AMBRA1 0 genome.wustl.edu 37 11 46419435 46419435 + Silent SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 46419435 46419435 C A SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known silent c.3462 p.L1154 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 96 0 0 46 4 8 OR5M1 0 genome.wustl.edu 37 11 56380424 56380424 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 56380424 56380424 G A SNP OR5M1 ENST00000526538 human ensembl 74_37 -1 known silent c.555 p.I185 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M1 HGNC ENSG00000255012 101 0 0 59 6 9.23077 OR5AR1 0 genome.wustl.edu 37 11 56431887 56431887 + Silent SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 56431887 56431887 G T SNP OR5AR1 ENST00000302969 human ensembl 74_37 +1 known silent c.726 p.G242 0.707 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 OR5AR1 HGNC ENSG00000172459 169 0 0 95 12 11.215 TNKS1BP1 0 genome.wustl.edu 37 11 57076370 57076370 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 57076370 57076370 C A SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known missense c.3815 p.R1272M 0.911 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 354 1 0.28169 197 13 6.19048 TNKS1BP1 0 genome.wustl.edu 37 11 57076371 57076371 + Missense_Mutation SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 57076371 57076371 T C SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known missense c.3814 p.R1272G 0.439 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 355 0 0 199 13 6.13208 OR56B1 0 genome.wustl.edu 37 11 5757906 5757906 + Missense_Mutation SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 5757906 5757906 A T SNP OR56B1 ENST00000317121 human ensembl 74_37 +1 known missense c.160 p.I54F 0.973 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR56B1 HGNC ENSG00000181023 84 0 0 54 4 6.89655 OR9Q1 0 genome.wustl.edu 37 11 57946985 57946985 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 57946985 57946985 G C SNP OR9Q1 ENST00000335397 human ensembl 74_37 +1 known missense c.69 p.W23C 0.008 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9Q1 HGNC ENSG00000186509 194 0 0 145 16 9.93789 SCYL1 0 genome.wustl.edu 37 11 65298186 65298186 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 65298186 65298186 G C SNP SCYL1 ENST00000270176 human ensembl 74_37 +1 known missense c.936 p.K312N 1.000 superfamily_ARM-type_fold,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors SCYL1 HGNC ENSG00000142186 202 0 0 70 13 15.6627 PCNXL3 0 genome.wustl.edu 37 11 65386206 65386206 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 65386206 65386206 C G SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.1373 p.S458C 0.999 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 72 0 0 20 4 16.6667 B3GNT1 0 genome.wustl.edu 37 11 66114059 66114059 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 66114059 66114059 G T SNP B3GNT1 ENST00000311181 human ensembl 74_37 -1 known missense c.958 p.P320T 0.393 NULL NULL - no_errors B3GNT1 HGNC ENSG00000174684 212 0 0 87 8 8.42105 NLRP14 0 genome.wustl.edu 37 11 7060959 7060959 + Missense_Mutation SNP A A C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 7060959 7060959 A C SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known missense c.304 p.I102L 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC ENSG00000158077 207 0 0 117 11 8.59375 NLRP14 0 genome.wustl.edu 37 11 7064426 7064426 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 7064426 7064426 C A SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known missense c.1169 p.T390K 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC ENSG00000158077 226 0 0 161 14 8 SLC25A22 0 genome.wustl.edu 37 11 792877 792877 + Silent SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 792877 792877 C A SNP SLC25A22 ENST00000320230 human ensembl 74_37 -1 known silent c.405 p.G135 0.354 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A22 HGNC ENSG00000177542 52 0 0 19 6 24 FAT3 0 genome.wustl.edu 37 11 92577512 92577512 + Missense_Mutation SNP A A C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 92577512 92577512 A C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.10979 p.D3660A 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 128 1 0.775194 71 9 11.25 STAB2 0 genome.wustl.edu 37 12 104149101 104149101 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 104149101 104149101 G C SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.6736 p.A2246P 0.998 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 227 0 0 123 13 9.55882 POLR3B 0 genome.wustl.edu 37 12 106820975 106820975 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 106820975 106820975 C T SNP POLR3B ENST00000228347 human ensembl 74_37 +1 known missense c.1102 p.L368F 1.000 pfam_RNA_pol_bsu_protrusion pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 30 0 0 11 5 31.25 POLR3B 0 genome.wustl.edu 37 12 106824074 106824074 + Missense_Mutation SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 106824074 106824074 T A SNP POLR3B ENST00000228347 human ensembl 74_37 +1 known missense c.1287 p.F429L 1.000 NULL pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 261 0 0 176 21 10.6599 IQCD 0 genome.wustl.edu 37 12 113633586 113633586 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 113633586 113633586 C G SNP IQCD ENST00000416617 human ensembl 74_37 -1 known missense c.1144 p.E382Q 0.177 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCD HGNC ENSG00000166578 233 0 0 108 10 8.47458 MED13L 0 genome.wustl.edu 37 12 116429002 116429002 + Missense_Mutation SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 116429002 116429002 T A SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.3757 p.T1253S 0.993 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 169 0 0 101 13 11.4035 LRRC43 0 genome.wustl.edu 37 12 122669241 122669241 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 122669241 122669241 G C SNP LRRC43 ENST00000339777 human ensembl 74_37 +1 known missense c.326 p.R109T 0.940 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 73 0 0 24 3 11.1111 TCTN2 0 genome.wustl.edu 37 12 124156631 124156631 + Silent SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 124156631 124156631 G T SNP TCTN2 ENST00000303372 human ensembl 74_37 +1 known silent c.219 p.V73 0.115 NULL pfam_DUF1619 - no_errors TCTN2 HGNC ENSG00000168778 259 0 0 114 7 5.78512 GPRC5D 0 genome.wustl.edu 37 12 13103126 13103126 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 13103126 13103126 G A SNP GPRC5D ENST00000228887 human ensembl 74_37 -1 known missense c.193 p.L65F 0.681 pfam_GPCR_3_C pfam_GPCR_3_C - no_errors GPRC5D HGNC ENSG00000111291 149 0 0 49 5 9.25926 C12orf36 0 genome.wustl.edu 37 12 13529227 13529227 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 13529227 13529227 G A SNP C12orf36 ENST00000318426 human ensembl 74_37 -1 known missense c.113 p.P38L 0.033 NULL NULL - no_errors C12orf36 HGNC ENSG00000180861 57 0 0 40 4 9.09091 CACNA2D4 0 genome.wustl.edu 37 12 2019093 2019093 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 2019093 2019093 G A SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known silent c.465 p.H155 0.714 pfam_VWA_N pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 48 0 0 27 5 15.625 LINC00477 0 genome.wustl.edu 37 12 24736768 24736768 + RNA SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 24736768 24736768 C A SNP LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00477 HGNC ENSG00000197503 100 0 0 58 16 21.6216 CNTN1 0 genome.wustl.edu 37 12 41410613 41410613 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 41410613 41410613 G A SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.2314 p.E772K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 154 0 0 107 9 7.75862 GXYLT1 0 genome.wustl.edu 37 12 42491366 42491366 + Missense_Mutation SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 42491366 42491366 T A SNP GXYLT1 ENST00000398675 human ensembl 74_37 -1 known missense c.1039 p.I347L 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC ENSG00000151233 174 0 0 113 13 10.3175 ANKRD33 0 genome.wustl.edu 37 12 52282873 52282873 + Missense_Mutation SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 52282873 52282873 A T SNP ANKRD33 ENST00000340970 human ensembl 74_37 +1 known missense c.14 p.Y5F 0.095 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD33 HGNC ENSG00000167612 172 0 0 62 9 12.6761 KRT83 0 genome.wustl.edu 37 12 52714937 52714937 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 52714937 52714937 G A SNP KRT83 ENST00000293670 human ensembl 74_37 -1 known silent c.183 p.A61 0.001 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT83 HGNC ENSG00000170523 95 0 0 61 6 8.95522 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 167 1 0.595238 35 31 46.9697 OR10P1 0 genome.wustl.edu 37 12 56030784 56030784 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 56030784 56030784 G A SNP OR10P1 ENST00000309675 human ensembl 74_37 +1 known missense c.109 p.V37I 0.835 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10P1 HGNC ENSG00000175398 225 0 0 119 11 8.46154 PAN2 0 genome.wustl.edu 37 12 56718164 56718164 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 56718164 56718164 C G SNP PAN2 ENST00000425394 human ensembl 74_37 -1 known missense c.1842 p.Q614H 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67 - no_errors PAN2 HGNC ENSG00000135473 209 0 0 85 7 7.6087 C1RL 0 genome.wustl.edu 37 12 7254481 7254481 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 7254481 7254481 G A SNP C1RL ENST00000545337 human ensembl 74_37 -1 putative missense c.503 p.S168F 0.000 NULL pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom - no_errors C1RL HGNC ENSG00000139178 252 0 0 138 10 6.75676 PPFIA2 0 genome.wustl.edu 37 12 81657147 81657147 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 81657147 81657147 C T SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.3578 p.R1193H 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 48 0 0 44 4 8.33333 TMTC4 0 genome.wustl.edu 37 13 101278038 101278038 + Splice_Site SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 13 101278038 101278038 C A SNP TMTC4 ENST00000342624 human ensembl 74_37 -1 known splice_site c.1694+1 e13+1 1.000 - - - no_errors TMTC4 HGNC ENSG00000125247 73 0 0 38 25 39.6825 COL4A1 0 genome.wustl.edu 37 13 110826862 110826862 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 13 110826862 110826862 G A SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known silent c.3337 p.L1113 0.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 73 0 0 86 7 7.52688 ARHGEF7 0 genome.wustl.edu 37 13 111955391 111955391 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 13 111955391 111955391 C G SNP ARHGEF7 ENST00000370623 human ensembl 74_37 +1 known missense c.2127 p.D709E 0.793 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CH-domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 62 0 0 37 5 11.9048 AMER2 0 genome.wustl.edu 37 13 25743820 25743820 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 13 25743820 25743820 G A SNP AMER2 ENST00000515384 human ensembl 74_37 -1 known silent c.1938 p.V646 1.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER2 HGNC ENSG00000165566 158 0 0 96 9 8.57143 FREM2 0 genome.wustl.edu 37 13 39264430 39264430 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 13 39264430 39264430 C G SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.2949 p.F983L 0.987 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 185 0 0 138 12 8 PCDH20 0 genome.wustl.edu 37 13 61986911 61986911 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 13 61986911 61986911 G T SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.1321 p.L441M 0.965 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 161 0 0 102 13 11.3043 PCDH9 0 genome.wustl.edu 37 13 67801945 67801945 + Silent SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 13 67801945 67801945 A G SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known silent c.628 p.L210 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 199 0 0 113 13 10.3175 COMMD6 0 genome.wustl.edu 37 13 76111694 76111694 + RNA SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 13 76111694 76111694 G C SNP COMMD6 ENST00000471682 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COMMD6 HGNC ENSG00000188243 25 0 0 6 13 68.4211 MYCBP2 0 genome.wustl.edu 37 13 77651284 77651284 + Missense_Mutation SNP T T G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 13 77651284 77651284 T G SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.11723 p.Q3908P 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 87 0 0 59 5 7.8125 MYCBP2 0 genome.wustl.edu 37 13 77834716 77834716 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 13 77834716 77834716 G A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.1864 p.R622W 0.995 superfamily_RCC1/BLIP-II,superfamily_ARM-type_fold,pfscan_Reg_chr_condens pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 64 0 0 56 12 17.6471 CLDN10 0 genome.wustl.edu 37 13 96086276 96086276 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 13 96086276 96086276 G A SNP CLDN10 ENST00000376873 human ensembl 74_37 +1 known silent c.189 p.P63 0.169 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin10 - no_errors CLDN10 HGNC ENSG00000134873 80 0 0 56 11 16.4179 DYNC1H1 0 genome.wustl.edu 37 14 102493538 102493538 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 102493538 102493538 G C SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.8799 p.L2933F 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 562 0 0 286 28 8.9172 DYNC1H1 0 genome.wustl.edu 37 14 102510823 102510823 + Silent SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 102510823 102510823 C A SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.12897 p.G4299 0.993 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 106 0 0 61 8 11.5942 AHNAK2 0 genome.wustl.edu 37 14 105416425 105416425 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 105416425 105416425 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.5363 p.S1788N 0.003 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 501 0 0 273 23 7.77027 POTEG 0 genome.wustl.edu 37 14 19571357 19571357 + Missense_Mutation SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 19571357 19571357 T C SNP POTEG ENST00000409832 human ensembl 74_37 +1 known missense c.1136 p.L379S 0.021 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEG HGNC ENSG00000222036 37 0 0 24 4 14.2857 OR4K1 0 genome.wustl.edu 37 14 20404690 20404690 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 20404690 20404690 C A SNP OR4K1 ENST00000285600 human ensembl 74_37 +1 known missense c.865 p.L289M 0.944 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 OR4K1 HGNC ENSG00000155249 187 0 0 138 13 8.60927 OR4K15 0 genome.wustl.edu 37 14 20444560 20444560 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 20444560 20444560 C G SNP OR4K15 ENST00000305051 human ensembl 74_37 +1 known missense c.883 p.L295V 0.004 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 OR4K15 HGNC ENSG00000169488 146 0 0 103 6 5.50459 RNASE10 0 genome.wustl.edu 37 14 20978867 20978867 + Silent SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 20978867 20978867 C A SNP RNASE10 ENST00000328444 human ensembl 74_37 +1 known silent c.237 p.G79 0.200 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE10 HGNC ENSG00000182545 121 0 0 46 7 13.2075 CHD8 0 genome.wustl.edu 37 14 21863166 21863166 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 21863166 21863166 C T SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.5295 p.M1765I 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,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 CHD8 HGNC ENSG00000100888 82 0 0 55 4 6.77966 OXA1L 0 genome.wustl.edu 37 14 23235817 23235817 + Missense_Mutation SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 23235817 23235817 A T SNP OXA1L ENST00000285848 human ensembl 74_37 +1 known missense c.87 p.Q29H 0.003 NULL pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membr_insert_YidC/Oxa1_C - no_errors OXA1L HGNC ENSG00000155463 330 1 0.302115 165 14 7.82123 NFATC4 0 genome.wustl.edu 37 14 24843060 24843060 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 24843060 24843060 G A SNP NFATC4 ENST00000413692 human ensembl 74_37 +1 known silent c.1908 p.V636 0.876 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NFAT 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 91 0 0 38 8 17.3913 ARHGAP5 0 genome.wustl.edu 37 14 32560468 32560468 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 32560468 32560468 C G SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.593 p.A198G 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,prints_Small_GTPase pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 148 0 0 116 12 9.375 PSMA6 0 genome.wustl.edu 37 14 35782239 35782239 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 35782239 35782239 G C SNP PSMA6 ENST00000261479 human ensembl 74_37 +1 known missense c.562 p.D188H 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA6 HGNC ENSG00000100902 301 0 0 112 14 11.1111 SEC23A 0 genome.wustl.edu 37 14 39510066 39510066 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 39510066 39510066 C G SNP SEC23A ENST00000307712 human ensembl 74_37 -1 known missense c.2012 p.G671A 1.000 pfam_Gelsolin_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 53 0 0 65 10 13.3333 LRR1 0 genome.wustl.edu 37 14 50074222 50074222 + Silent SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 50074222 50074222 A G SNP LRR1 ENST00000298288 human ensembl 74_37 +1 known silent c.387 p.S129 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRR1 HGNC ENSG00000165501 88 0 0 64 5 7.24638 NAA30 0 genome.wustl.edu 37 14 57858401 57858401 + Nonsense_Mutation SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 57858401 57858401 T A SNP NAA30 ENST00000556492 human ensembl 74_37 +1 known nonsense c.726 p.Y242* 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA30 HGNC ENSG00000139977 511 0 0 256 33 11.4187 ZFYVE26 0 genome.wustl.edu 37 14 68234421 68234421 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 68234421 68234421 C A SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known missense c.5790 p.Q1930H 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 146 0 0 120 11 8.39695 ADAM21 0 genome.wustl.edu 37 14 70925356 70925356 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 70925356 70925356 C T SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known silent c.1140 p.Y380 0.188 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 122 0 0 101 10 9.00901 RBM25 0 genome.wustl.edu 37 14 73544115 73544115 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 73544115 73544115 G C SNP RBM25 ENST00000261973 human ensembl 74_37 +1 known missense c.195 p.L65F 1.000 NULL pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 99 0 0 51 10 16.3934 RBM25 0 genome.wustl.edu 37 14 73544125 73544125 + Missense_Mutation SNP A A C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 73544125 73544125 A C SNP RBM25 ENST00000261973 human ensembl 74_37 +1 known missense c.205 p.K69Q 1.000 NULL pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 100 0 0 46 6 11.5385 TTLL5 0 genome.wustl.edu 37 14 76249678 76249678 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 76249678 76249678 C G SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known missense c.2791 p.Q931E 0.865 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 164 0 0 105 12 10.2564 ADCK1 0 genome.wustl.edu 37 14 78392220 78392220 + Nonsense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 78392220 78392220 C A SNP ADCK1 ENST00000238561 human ensembl 74_37 +1 known nonsense c.1122 p.Y374* 1.000 NULL pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 391 0 0 184 10 5.15464 KCNK10 0 genome.wustl.edu 37 14 88729835 88729835 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 88729835 88729835 G A SNP KCNK10 ENST00000312350 human ensembl 74_37 -1 known missense c.113 p.P38L 0.984 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 190 0 0 78 7 8.23529 TDP1 0 genome.wustl.edu 37 14 90429519 90429519 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 90429519 90429519 G C SNP TDP1 ENST00000335725 human ensembl 74_37 +1 known missense c.61 p.E21Q 0.866 NULL pfam_Tyr-DNA_phospho - no_errors TDP1 HGNC ENSG00000042088 137 0 0 85 8 8.60215 UNC79 0 genome.wustl.edu 37 14 94044294 94044294 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 94044294 94044294 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.2318 p.R773H 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 311 0 0 150 11 6.8323 UNC79 0 genome.wustl.edu 37 14 94088842 94088842 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 94088842 94088842 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.5329 p.A1777T 0.934 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 162 0 0 89 11 11 MKRN3 0 genome.wustl.edu 37 15 23811185 23811185 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 15 23811185 23811185 C A SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.256 p.P86T 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 89 0 0 48 5 9.43396 SNORD116-3 0 genome.wustl.edu 37 15 25302085 25302085 + RNA SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 15 25302085 25302085 C T SNP SNORD116-3 ENST00000384287 human ensembl 74_37 +1 known rna NULL NULL 0.795 - - - no_errors SNORD116-3 HGNC ENSG00000207014 229 0 0 147 13 8.125 SNHG14 0 genome.wustl.edu 37 15 25349781 25349781 + RNA SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 15 25349781 25349781 A G SNP SNHG14 ENST00000546682 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 98 0 0 59 8 11.9403 HERC2 0 genome.wustl.edu 37 15 28358272 28358272 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 15 28358272 28358272 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.14177 p.R4726Q 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 109 0 0 50 5 9.09091 HERC2 0 genome.wustl.edu 37 15 28515891 28515891 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 15 28515891 28515891 G C SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.1207 p.L403V 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 125 0 0 66 5 7.04225 PLA2G4D 0 genome.wustl.edu 37 15 42374530 42374530 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 15 42374530 42374530 G A SNP PLA2G4D ENST00000290472 human ensembl 74_37 -1 known silent c.730 p.L244 0.812 NULL pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4D HGNC ENSG00000159337 152 0 0 42 10 19.2308 CEP152 0 genome.wustl.edu 37 15 49044627 49044627 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 15 49044627 49044627 C A SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known missense c.3385 p.G1129C 0.000 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 187 0 0 108 6 5.26316 SPPL2A 0 genome.wustl.edu 37 15 51031977 51031977 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 15 51031977 51031977 C G SNP SPPL2A ENST00000261854 human ensembl 74_37 -1 known missense c.633 p.K211N 0.978 NULL pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2A HGNC ENSG00000138600 77 0 0 51 7 12.069 DMXL2 0 genome.wustl.edu 37 15 51766637 51766637 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 15 51766637 51766637 C A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.7117 p.A2373S 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 92 0 0 31 18 36.7347 VPS13C 0 genome.wustl.edu 37 15 62174893 62174893 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 15 62174893 62174893 G A SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.9526 p.R3176C 0.011 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 140 0 0 90 10 10 MTFMT 0 genome.wustl.edu 37 15 65319186 65319186 + Silent SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 15 65319186 65319186 A G SNP MTFMT ENST00000220058 human ensembl 74_37 -1 known silent c.402 p.L134 1.000 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,tigrfam_Fmt pfam_Formyl_transf_N,pfam_Formyl_trans_C,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,tigrfam_Fmt - no_errors MTFMT HGNC ENSG00000103707 105 0 0 54 8 12.9032 MTFMT 0 genome.wustl.edu 37 15 65319188 65319188 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 15 65319188 65319188 G C SNP MTFMT ENST00000220058 human ensembl 74_37 -1 known missense c.400 p.L134V 0.999 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,tigrfam_Fmt pfam_Formyl_transf_N,pfam_Formyl_trans_C,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,tigrfam_Fmt - no_errors MTFMT HGNC ENSG00000103707 103 0 0 54 8 12.9032 GOLGA6C 0 genome.wustl.edu 37 15 75557726 75557726 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 15 75557726 75557726 G T SNP GOLGA6C ENST00000300576 human ensembl 74_37 +1 known missense c.720 p.R240S 0.757 NULL NULL - no_errors GOLGA6C HGNC ENSG00000167195 159 0 0 96 12 11.1111 WDR73 0 genome.wustl.edu 37 15 85197506 85197506 + RNA SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 15 85197506 85197506 G A SNP WDR73 ENST00000398528 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors WDR73 HGNC ENSG00000177082 407 1 0.245098 141 30 17.5439 POLG 0 genome.wustl.edu 37 15 89868908 89868908 + Silent SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 15 89868908 89868908 C A SNP POLG ENST00000268124 human ensembl 74_37 -1 known silent c.1722 p.R574 1.000 pirsf_DNA-dir_DNA_pol_A_mt_sub pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 142 0 0 74 5 6.32911 FURIN 0 genome.wustl.edu 37 15 91424172 91424172 + Missense_Mutation SNP A A C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 15 91424172 91424172 A C SNP FURIN ENST00000268171 human ensembl 74_37 +1 known missense c.1694 p.K565T 1.000 pfam_PrprotnconvertsP,superfamily_Galactose-bd-like pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors FURIN HGNC ENSG00000140564 242 0 0 116 8 6.45161 HDDC3 0 genome.wustl.edu 37 15 91475027 91475027 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 15 91475027 91475027 C T SNP HDDC3 ENST00000394272 human ensembl 74_37 -1 known missense c.316 p.E106K 1.000 pfam_HD_domain,smart_HD/PDEase_dom pfam_HD_domain,smart_HD/PDEase_dom - no_errors HDDC3 HGNC ENSG00000184508 241 0 0 146 10 6.41026 PDXDC1 0 genome.wustl.edu 37 16 15098145 15098145 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 15098145 15098145 C T SNP PDXDC1 ENST00000396410 human ensembl 74_37 +1 known missense c.344 p.T115I 1.000 superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors PDXDC1 HGNC ENSG00000179889 430 0 0 264 15 5.37634 TMC5 0 genome.wustl.edu 37 16 19477458 19477458 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 19477458 19477458 C A SNP TMC5 ENST00000396229 human ensembl 74_37 +1 known missense c.1540 p.Q514K 0.196 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 86 0 0 60 7 10.4478 DNAH3 0 genome.wustl.edu 37 16 20970669 20970669 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 20970669 20970669 G C SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.10658 p.S3553C 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 234 0 0 120 15 11.1111 DNAH3 0 genome.wustl.edu 37 16 20999373 20999373 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 20999373 20999373 G C SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.6616 p.H2206D 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 179 0 0 115 8 6.50407 DNAH3 0 genome.wustl.edu 37 16 21042585 21042585 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 21042585 21042585 C G SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.5221 p.V1741L 0.999 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 100 0 0 62 9 12.6761 ANKS4B 0 genome.wustl.edu 37 16 21261950 21261950 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 21261950 21261950 C A SNP ANKS4B ENST00000311620 human ensembl 74_37 +1 known missense c.1063 p.Q355K 0.849 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKS4B HGNC ENSG00000175311 85 0 0 49 4 7.54717 KIF22 0 genome.wustl.edu 37 16 29816605 29816605 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 29816605 29816605 G T SNP KIF22 ENST00000160827 human ensembl 74_37 +1 known missense c.1972 p.A658S 0.723 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF22 HGNC ENSG00000079616 493 0 0 190 16 7.76699 CD2BP2 0 genome.wustl.edu 37 16 30364910 30364910 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 30364910 30364910 G A SNP CD2BP2 ENST00000305596 human ensembl 74_37 -1 known missense c.587 p.P196L 0.994 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors CD2BP2 HGNC ENSG00000169217 67 0 0 27 4 12.9032 BCL7C 0 genome.wustl.edu 37 16 30904233 30904233 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 30904233 30904233 G A SNP BCL7C ENST00000380317 human ensembl 74_37 -1 known missense c.208 p.R70C 1.000 NULL pfam_BCL7 - no_errors BCL7C HGNC ENSG00000099385 230 0 0 79 17 17.7083 ITGAX 0 genome.wustl.edu 37 16 31382721 31382721 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 31382721 31382721 G A SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known silent c.1908 p.A636 0.996 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 89 0 0 45 8 15.0943 ITGAD 0 genome.wustl.edu 37 16 31424270 31424270 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 31424270 31424270 G C SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known missense c.1819 p.G607R 0.977 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 184 0 0 71 10 12.3457 NAA60 0 genome.wustl.edu 37 16 3533413 3533413 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 3533413 3533413 G A SNP NAA60 ENST00000407558 human ensembl 74_37 +1 known missense c.388 p.D130N 1.000 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA60 HGNC ENSG00000122390 60 0 0 30 6 16.6667 MYLK3 0 genome.wustl.edu 37 16 46746663 46746663 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 46746663 46746663 C G SNP MYLK3 ENST00000394809 human ensembl 74_37 -1 known missense c.2011 p.V671L 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 MYLK3 HGNC ENSG00000140795 107 0 0 58 6 9.375 ABCC11 0 genome.wustl.edu 37 16 48212523 48212523 + Silent SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 48212523 48212523 T A SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known silent c.3333 p.I1111 0.003 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 171 0 0 87 9 9.375 CYLD 0 genome.wustl.edu 37 16 50813850 50813850 + Missense_Mutation SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 50813850 50813850 A T SNP CYLD ENST00000311559 human ensembl 74_37 +1 known missense c.1413 p.E471D 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67 - no_errors CYLD HGNC ENSG00000083799 102 0 0 72 21 22.5806 SLC6A2 0 genome.wustl.edu 37 16 55690822 55690822 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 55690822 55690822 C T SNP SLC6A2 ENST00000219833 human ensembl 74_37 +1 known silent c.216 p.F72 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 250 0 0 112 14 11.1111 CNGB1 0 genome.wustl.edu 37 16 57931344 57931344 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 57931344 57931344 C T SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known missense c.3199 p.V1067M 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 93 0 0 53 8 13.1148 CNOT1 0 genome.wustl.edu 37 16 58562514 58562514 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 58562514 58562514 G A SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known silent c.6318 p.F2106 1.000 pfam_CCR4-Not_Not1_C pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 99 0 0 50 23 31.5068 CDH16 0 genome.wustl.edu 37 16 66948278 66948278 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 66948278 66948278 G A SNP CDH16 ENST00000299752 human ensembl 74_37 -1 known silent c.621 p.Y207 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 88 0 0 37 9 19.5652 DUS2 0 genome.wustl.edu 37 16 68100496 68100496 + Silent SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 68100496 68100496 C A SNP DUS2 ENST00000358896 human ensembl 74_37 +1 known silent c.511 p.R171 1.000 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom - no_errors DUS2 HGNC ENSG00000167264 391 0 0 249 15 5.68182 WWP2 0 genome.wustl.edu 37 16 69832599 69832599 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 69832599 69832599 C T SNP WWP2 ENST00000356003 human ensembl 74_37 +1 known missense c.85 p.P29S 1.000 superfamily_C2_dom,smart_C2_dom pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors WWP2 HGNC ENSG00000198373 248 0 0 129 10 7.19424 STUB1 0 genome.wustl.edu 37 16 731803 731803 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 731803 731803 G C SNP STUB1 ENST00000219548 human ensembl 74_37 +1 known missense c.535 p.E179Q 0.891 NULL pfam_Ubox_domain,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ubox_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STUB1 HGNC ENSG00000103266 129 0 0 65 8 10.9589 GRIN2A 0 genome.wustl.edu 37 16 9892258 9892258 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 9892258 9892258 G A SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known silent c.2232 p.G744 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt 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 102 0 0 88 8 8.33333 MYH3 0 genome.wustl.edu 37 17 10544004 10544004 + Splice_Site SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 10544004 10544004 C A SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known splice_site c.2166-1 e18-1 1.000 - - - no_errors MYH3 HGNC ENSG00000109063 60 0 0 32 7 17.9487 DNAH9 0 genome.wustl.edu 37 17 11696840 11696840 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 11696840 11696840 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known silent c.8082 p.V2694 0.247 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 125 0 0 70 11 13.5802 MYOCD 0 genome.wustl.edu 37 17 12649277 12649277 + Nonsense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 12649277 12649277 C A SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known nonsense c.1013 p.S338* 0.795 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 305 0 0 134 13 8.84354 INPP5K 0 genome.wustl.edu 37 17 1416808 1416808 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 1416808 1416808 G T SNP INPP5K ENST00000421807 human ensembl 74_37 -1 known missense c.200 p.A67D 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5K HGNC ENSG00000132376 259 1 0.384615 123 13 9.55882 RAP1GAP2 0 genome.wustl.edu 37 17 2901595 2901595 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 2901595 2901595 G T SNP RAP1GAP2 ENST00000254695 human ensembl 74_37 +1 known missense c.1125 p.M375I 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom - no_errors RAP1GAP2 HGNC ENSG00000132359 208 0 0 107 8 6.95652 RAP1GAP2 0 genome.wustl.edu 37 17 2901596 2901596 + Missense_Mutation SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 2901596 2901596 A G SNP RAP1GAP2 ENST00000254695 human ensembl 74_37 +1 known missense c.1126 p.I376V 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom - no_errors RAP1GAP2 HGNC ENSG00000132359 207 0 0 107 8 6.95652 EVI2B 0 genome.wustl.edu 37 17 29632128 29632128 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 29632128 29632128 G A SNP EVI2B ENST00000544462 human ensembl 74_37 -1 known missense c.545 p.S182F 0.086 NULL NULL - no_errors EVI2B HGNC ENSG00000185862 278 0 0 211 30 12.4481 OR1G1 0 genome.wustl.edu 37 17 3030266 3030266 + Missense_Mutation SNP T T G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 3030266 3030266 T G SNP OR1G1 ENST00000328890 human ensembl 74_37 -1 known missense c.580 p.T194P 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1G1 HGNC ENSG00000183024 181 1 0.549451 92 6 6.12245 SRCIN1 0 genome.wustl.edu 37 17 36717777 36717777 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 36717777 36717777 G A SNP SRCIN1 ENST00000264659 human ensembl 74_37 -1 known missense c.1622 p.S541L 0.355 NULL pfam_AIP3_C - no_errors SRCIN1 HGNC ENSG00000017373 51 0 0 18 5 21.7391 THRA 0 genome.wustl.edu 37 17 38233842 38233842 + Missense_Mutation SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 38233842 38233842 T C SNP THRA ENST00000264637 human ensembl 74_37 +1 known missense c.203 p.I68T 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRA HGNC ENSG00000126351 199 1 0.5 114 11 8.8 WIPF2 0 genome.wustl.edu 37 17 38434461 38434461 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 38434461 38434461 C A SNP WIPF2 ENST00000323571 human ensembl 74_37 +1 known missense c.1307 p.P436Q 1.000 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF2 HGNC ENSG00000171475 54 0 0 25 3 10.7143 CDC6 0 genome.wustl.edu 37 17 38450635 38450635 + Missense_Mutation SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 38450635 38450635 T A SNP CDC6 ENST00000209728 human ensembl 74_37 +1 known missense c.963 p.D321E 0.999 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18 pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18 - no_errors CDC6 HGNC ENSG00000094804 106 0 0 75 7 8.53659 KRT12 0 genome.wustl.edu 37 17 39019794 39019794 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 39019794 39019794 G A SNP KRT12 ENST00000251643 human ensembl 74_37 -1 known silent c.1038 p.T346 0.067 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT12 HGNC ENSG00000187242 88 0 0 82 6 6.81818 KRT19 0 genome.wustl.edu 37 17 39684234 39684234 + Missense_Mutation SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 39684234 39684234 T A SNP KRT19 ENST00000361566 human ensembl 74_37 -1 known missense c.266 p.D89V 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT19 HGNC ENSG00000171345 246 1 0.404858 133 9 6.33803 KRT16 0 genome.wustl.edu 37 17 39767353 39767353 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 39767353 39767353 G T SNP KRT16 ENST00000301653 human ensembl 74_37 -1 known missense c.901 p.R301S 0.995 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT16 HGNC ENSG00000186832 356 0 0 233 19 7.53968 EIF1 0 genome.wustl.edu 37 17 39846155 39846155 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 39846155 39846155 G T SNP EIF1 ENST00000469257 human ensembl 74_37 +1 known missense c.157 p.D53Y 1.000 pfam_TIF_SUI1,superfamily_TIF_SUI1,pirsf_SUI1_euk,pfscan_TIF_SUI1,tigrfam_SUI1_euk pfam_TIF_SUI1,superfamily_TIF_SUI1,pirsf_SUI1_euk,pfscan_TIF_SUI1,tigrfam_SUI1_euk - no_errors EIF1 HGNC ENSG00000173812 162 0 0 113 14 11.0236 CNP 0 genome.wustl.edu 37 17 40125917 40125917 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 40125917 40125917 C G SNP CNP ENST00000393892 human ensembl 74_37 +1 known missense c.1241 p.A414G 0.018 pfam_CNPase,pirsf_CNPase pfam_CNPase,pfam_Zeta_toxin_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,superfamily_P-loop_NTPase,pirsf_CNPase - no_errors CNP HGNC ENSG00000173786 100 0 0 37 6 13.9535 AOC4P 0 genome.wustl.edu 37 17 41019545 41019545 + RNA SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 41019545 41019545 G C SNP AOC4P ENST00000569586 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AOC4P HGNC ENSG00000260105 388 0 0 230 13 5.34979 GJC1 0 genome.wustl.edu 37 17 42883207 42883207 + Splice_Site SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 42883207 42883207 T A SNP GJC1 ENST00000330514 human ensembl 74_37 -1 known splice_site c.1-2 e1-2 0.994 - - - no_errors GJC1 HGNC ENSG00000182963 39 0 0 24 7 22.5806 EFTUD2 0 genome.wustl.edu 37 17 42961022 42961022 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 42961022 42961022 C T SNP EFTUD2 ENST00000426333 human ensembl 74_37 -1 known missense c.421 p.G141S 1.000 pfam_EF_GTP-bd_dom,pfam_MIRO-like,superfamily_P-loop_NTPase,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 147 0 0 73 4 5.19481 NFE2L1 0 genome.wustl.edu 37 17 46136555 46136555 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 46136555 46136555 C G SNP NFE2L1 ENST00000362042 human ensembl 74_37 +1 known missense c.1871 p.P624R 1.000 superfamily_TF_DNA-bd pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 108 0 0 69 6 8 COL1A1 0 genome.wustl.edu 37 17 48274405 48274405 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 48274405 48274405 C G SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known missense c.770 p.G257A 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 130 0 0 72 4 5.26316 SPATA20 0 genome.wustl.edu 37 17 48628511 48628511 + Silent SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 48628511 48628511 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known silent c.1536 p.P512 0.001 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 74 0 0 12 9 42.8571 SMG8 0 genome.wustl.edu 37 17 57290168 57290168 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 57290168 57290168 C T SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known missense c.1984 p.P662S 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 568 0 0 200 21 9.50226 GNA13 0 genome.wustl.edu 37 17 63010790 63010790 + Missense_Mutation SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 63010790 63010790 A G SNP GNA13 ENST00000439174 human ensembl 74_37 -1 known missense c.719 p.V240A 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12 - no_errors GNA13 HGNC ENSG00000120063 141 0 0 115 13 10.1562 CEP112 0 genome.wustl.edu 37 17 64092744 64092744 + Missense_Mutation SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 64092744 64092744 T A SNP CEP112 ENST00000392769 human ensembl 74_37 -1 known missense c.649 p.N217Y 1.000 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 71 0 0 48 4 7.69231 WBP2 0 genome.wustl.edu 37 17 73843051 73843051 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 73843051 73843051 C T SNP WBP2 ENST00000254806 human ensembl 74_37 -1 known missense c.670 p.A224T 0.999 NULL pfam_WW-domain-binding,pfam_GRAM - no_errors WBP2 HGNC ENSG00000132471 103 0 0 27 4 12.9032 GLP2R 0 genome.wustl.edu 37 17 9760878 9760878 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 17 9760878 9760878 G A SNP GLP2R ENST00000262441 human ensembl 74_37 +1 known missense c.750 p.M250I 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GLP2R HGNC ENSG00000065325 122 0 0 55 4 6.77966 IMPA2 0 genome.wustl.edu 37 18 12009979 12009979 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 18 12009979 12009979 G C SNP IMPA2 ENST00000269159 human ensembl 74_37 +1 known missense c.328 p.V110L 1.000 pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen - no_errors IMPA2 HGNC ENSG00000141401 152 0 0 95 12 11.215 DSG4 0 genome.wustl.edu 37 18 28968948 28968948 + Missense_Mutation SNP T T G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 18 28968948 28968948 T G SNP DSG4 ENST00000359747 human ensembl 74_37 +1 known missense c.484 p.Y162D 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG4 HGNC ENSG00000175065 166 0 0 83 10 10.7527 CELF4 0 genome.wustl.edu 37 18 35145451 35145451 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 18 35145451 35145451 C G SNP CELF4 ENST00000420428 human ensembl 74_37 -1 known missense c.154 p.D52H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 105 0 0 50 4 7.40741 SMAD4 0 genome.wustl.edu 37 18 48591892 48591892 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 18 48591892 48591892 G C SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1055 p.G352A 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 166 0 0 81 6 6.89655 RNF152 0 genome.wustl.edu 37 18 59483514 59483514 + Silent SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 18 59483514 59483514 A G SNP RNF152 ENST00000312828 human ensembl 74_37 -1 known silent c.183 p.P61 0.992 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF152 HGNC ENSG00000176641 94 0 0 37 4 9.7561 DOK6 0 genome.wustl.edu 37 18 67345090 67345090 + Splice_Site SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 18 67345090 67345090 G T SNP DOK6 ENST00000382713 human ensembl 74_37 +1 known splice_site c.409+1 e4+1 1.000 - - - no_errors DOK6 HGNC ENSG00000206052 43 0 0 28 5 15.1515 ATP9B 0 genome.wustl.edu 37 18 77096644 77096644 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 18 77096644 77096644 G C SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.2045 p.R682P 0.832 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp 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 ATP9B HGNC ENSG00000166377 58 0 0 17 15 46.875 ATG4D 0 genome.wustl.edu 37 19 10657566 10657566 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 10657566 10657566 C T SNP ATG4D ENST00000309469 human ensembl 74_37 +1 known missense c.545 p.S182L 0.000 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4D HGNC ENSG00000130734 100 0 0 36 4 10 OR10H1 0 genome.wustl.edu 37 19 15918371 15918371 + Silent SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 15918371 15918371 C G SNP OR10H1 ENST00000334920 human ensembl 74_37 -1 known silent c.477 p.V159 0.993 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 OR10H1 HGNC ENSG00000186723 138 0 0 50 6 10.7143 CYP4F11 0 genome.wustl.edu 37 19 16024662 16024662 + Silent SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 16024662 16024662 G C SNP CYP4F11 ENST00000248041 human ensembl 74_37 -1 known silent c.1455 p.T485 0.182 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC ENSG00000171903 78 0 0 33 4 10.8108 NWD1 0 genome.wustl.edu 37 19 16860087 16860087 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 16860087 16860087 G C SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.634 p.A212P 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 264 1 0.377358 55 44 44.4444 SUGP2 0 genome.wustl.edu 37 19 19135888 19135888 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 19135888 19135888 C G SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known missense c.1269 p.K423N 1.000 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 218 0 0 112 7 5.88235 NDUFA13 0 genome.wustl.edu 37 19 19626962 19626962 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 19626962 19626962 C T SNP NDUFA13 ENST00000252576 human ensembl 74_37 +1 known missense c.164 p.T55I 0.000 NULL pfam_GRIM-19 - no_errors NDUFA13 HGNC ENSG00000186010 93 0 0 39 8 17.0213 TSHZ3 0 genome.wustl.edu 37 19 31767827 31767827 + Silent SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 31767827 31767827 G T SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.2872 p.R958 0.892 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 100 0 0 69 5 6.75676 ANKRD27 0 genome.wustl.edu 37 19 33140660 33140660 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 33140660 33140660 G C SNP ANKRD27 ENST00000306065 human ensembl 74_37 -1 known missense c.141 p.I47M 0.001 NULL pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 312 0 0 166 16 8.79121 FXYD3 0 genome.wustl.edu 37 19 35612168 35612168 + Missense_Mutation SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 35612168 35612168 T A SNP FXYD3 ENST00000454903 human ensembl 74_37 +1 known missense c.116 p.L39H 0.000 NULL NULL - no_errors FXYD3 HGNC ENSG00000089356 180 1 0.552486 64 4 5.88235 NPHS1 0 genome.wustl.edu 37 19 36336428 36336428 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 36336428 36336428 G C SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known missense c.1772 p.A591G 0.012 pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 46 0 0 9 4 30.7692 LRFN3 0 genome.wustl.edu 37 19 36430947 36430947 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 36430947 36430947 C A SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.620 p.A207D 0.947 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 498 0 0 150 12 7.40741 ZNF568 0 genome.wustl.edu 37 19 37441301 37441301 + Nonsense_Mutation SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 37441301 37441301 A T SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known nonsense c.1246 p.K416* 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 130 0 0 75 10 11.7647 ZNF793 0 genome.wustl.edu 37 19 38028263 38028263 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 38028263 38028263 G C SNP ZNF793 ENST00000445217 human ensembl 74_37 +1 known missense c.703 p.A235P 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF793 HGNC ENSG00000188227 38 0 0 16 5 23.8095 ZFP30 0 genome.wustl.edu 37 19 38126854 38126854 + Silent SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 38126854 38126854 T C SNP ZFP30 ENST00000351218 human ensembl 74_37 -1 known silent c.588 p.R196 0.146 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP30 HGNC ENSG00000120784 177 0 0 100 7 6.54206 RYR1 0 genome.wustl.edu 37 19 38946294 38946294 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 38946294 38946294 G T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.1694 p.C565F 1.000 pfam_Ca-rel_channel,prints_Ryan_recept 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 121 0 0 54 7 11.4754 EEF2 0 genome.wustl.edu 37 19 3980525 3980525 + Missense_Mutation SNP T T G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 3980525 3980525 T G SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known missense c.1333 p.K445Q 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 109 0 0 34 3 8.10811 LTBP4 0 genome.wustl.edu 37 19 41117887 41117887 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 41117887 41117887 G A SNP LTBP4 ENST00000308370 human ensembl 74_37 +1 known missense c.2377 p.E793K 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 58 0 0 24 4 14.2857 CYP2F1 0 genome.wustl.edu 37 19 41622244 41622244 + Missense_Mutation SNP A A C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 41622244 41622244 A C SNP CYP2F1 ENST00000331105 human ensembl 74_37 +1 known missense c.151 p.M51L 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_CYP2_fam pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 650 0 0 278 32 10.3226 AXL 0 genome.wustl.edu 37 19 41749531 41749531 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 41749531 41749531 G C SNP AXL ENST00000301178 human ensembl 74_37 +1 known missense c.1456 p.E486Q 1.000 NULL 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 384 0 0 147 11 6.96203 BCKDHA 0 genome.wustl.edu 37 19 41884322 41884322 + Silent SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 41884322 41884322 A G SNP BCKDHA ENST00000595085 human ensembl 74_37 +1 known silent c.108 p.R36 0.030 NULL pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 187 0 0 96 11 10.2804 RELB 0 genome.wustl.edu 37 19 45540843 45540843 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 45540843 45540843 C G SNP RELB ENST00000221452 human ensembl 74_37 +1 known missense c.1535 p.A512G 0.204 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELB HGNC ENSG00000104856 60 0 0 29 8 21.6216 OPA3 0 genome.wustl.edu 37 19 46056952 46056952 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 46056952 46056952 G A SNP OPA3 ENST00000263275 human ensembl 74_37 -1 known silent c.360 p.N120 0.479 pfam_OPA3-like pfam_OPA3-like - no_errors OPA3 HGNC ENSG00000125741 46 0 0 20 6 23.0769 NOVA2 0 genome.wustl.edu 37 19 46457192 46457192 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 46457192 46457192 C T SNP NOVA2 ENST00000263257 human ensembl 74_37 -1 known missense c.242 p.R81Q 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA2 HGNC ENSG00000104967 196 0 0 86 7 7.52688 SLC6A16 0 genome.wustl.edu 37 19 49812135 49812135 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 49812135 49812135 C G SNP SLC6A16 ENST00000335875 human ensembl 74_37 -1 known missense c.1227 p.E409D 0.679 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A16 HGNC ENSG00000063127 240 0 0 113 10 8.13008 IL4I1 0 genome.wustl.edu 37 19 50397628 50397628 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 50397628 50397628 C T SNP IL4I1 ENST00000341114 human ensembl 74_37 -1 known missense c.530 p.R177H 0.752 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ENSG00000104951 124 0 0 61 5 7.57576 ZNF473 0 genome.wustl.edu 37 19 50548172 50548172 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 50548172 50548172 C T SNP ZNF473 ENST00000270617 human ensembl 74_37 +1 known missense c.472 p.P158S 0.046 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 ZNF473 HGNC ENSG00000142528 120 0 0 59 8 11.9403 POLD1 0 genome.wustl.edu 37 19 50910318 50910318 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 50910318 50910318 C T SNP POLD1 ENST00000440232 human ensembl 74_37 +1 known missense c.1573 p.R525W 1.000 superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 187 0 0 82 9 9.89011 MYBPC2 0 genome.wustl.edu 37 19 50957402 50957402 + Silent SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 50957402 50957402 C G SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known silent c.1875 p.G625 1.000 pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 55 0 0 21 3 12.5 ZNF615 0 genome.wustl.edu 37 19 52496905 52496905 + Missense_Mutation SNP T T G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 52496905 52496905 T G SNP ZNF615 ENST00000594083 human ensembl 74_37 -1 known missense c.1457 p.Q486P 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF615 HGNC ENSG00000197619 62 0 0 51 6 10.5263 ZNF614 0 genome.wustl.edu 37 19 52520497 52520497 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 52520497 52520497 C G SNP ZNF614 ENST00000270649 human ensembl 74_37 -1 known missense c.354 p.K118N 0.625 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF614 HGNC ENSG00000142556 50 0 0 47 5 9.61538 ZNF320 0 genome.wustl.edu 37 19 53384030 53384030 + Missense_Mutation SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 53384030 53384030 A G SNP ZNF320 ENST00000391781 human ensembl 74_37 -1 known missense c.1349 p.F450S 0.066 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF320 HGNC ENSG00000182986 112 0 0 82 9 9.89011 ZNF665 0 genome.wustl.edu 37 19 53668165 53668165 + Missense_Mutation SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 53668165 53668165 A T SNP ZNF665 ENST00000396424 human ensembl 74_37 -1 known missense c.1578 p.H526Q 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF665 HGNC ENSG00000197497 282 0 0 168 12 6.66667 ZSCAN18 0 genome.wustl.edu 37 19 58596573 58596573 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 58596573 58596573 G C SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known missense c.1180 p.P394A 0.020 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 72 0 0 24 4 14.2857 FUT5 0 genome.wustl.edu 37 19 5866954 5866954 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 5866954 5866954 C G SNP FUT5 ENST00000252675 human ensembl 74_37 -1 known missense c.783 p.E261D 1.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT5 HGNC ENSG00000130383 159 0 0 64 13 16.8831 MISP 0 genome.wustl.edu 37 19 757412 757412 + Missense_Mutation SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 757412 757412 A G SNP MISP ENST00000215582 human ensembl 74_37 +1 known missense c.466 p.S156G 0.000 NULL NULL - no_errors MISP HGNC ENSG00000099812 16 0 0 6 6 50 MUC16 0 genome.wustl.edu 37 19 9011337 9011337 + Missense_Mutation SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 9011337 9011337 T A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.38896 p.S12966C 0.971 smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 440 0 0 206 17 7.62332 MUC16 0 genome.wustl.edu 37 19 9046424 9046424 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 9046424 9046424 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.35207 p.S11736L 0.014 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 218 0 0 78 9 10.3448 MUC16 0 genome.wustl.edu 37 19 9082932 9082932 + Silent SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 9082932 9082932 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.8883 p.T2961 0.005 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 215 0 0 89 7 7.29167 AFF3 0 genome.wustl.edu 37 2 100185340 100185340 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 100185340 100185340 G C SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.3031 p.R1011G 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 261 0 0 125 8 6.01504 ST6GAL2 0 genome.wustl.edu 37 2 107460196 107460196 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 107460196 107460196 G T SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known missense c.238 p.L80M 0.000 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 68 0 0 38 5 11.6279 RANBP2 0 genome.wustl.edu 37 2 109389389 109389389 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 109389389 109389389 G C SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.8179 p.D2727H 1.000 pfam_IR1-M pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 69 0 0 39 4 9.30233 BUB1 0 genome.wustl.edu 37 2 111395577 111395577 + Missense_Mutation SNP A A C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 111395577 111395577 A C SNP BUB1 ENST00000302759 human ensembl 74_37 -1 known missense c.3222 p.I1074M 0.917 pfscan_Prot_kinase_dom pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors BUB1 HGNC ENSG00000169679 111 0 0 69 6 8 RIF1 0 genome.wustl.edu 37 2 152320512 152320512 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 152320512 152320512 C G SNP RIF1 ENST00000243326 human ensembl 74_37 +1 known missense c.4478 p.T1493S 0.473 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 141 0 0 78 9 10.3448 SCN3A 0 genome.wustl.edu 37 2 165987898 165987898 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 165987898 165987898 C G SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.2421 p.M807I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 146 0 0 52 6 10.3448 SCN2A 0 genome.wustl.edu 37 2 166201292 166201292 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 166201292 166201292 C A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.2790 p.H930Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 284 0 0 151 18 10.6509 PHOSPHO2 0 genome.wustl.edu 37 2 170558070 170558070 + Missense_Mutation SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 170558070 170558070 A T SNP PHOSPHO2 ENST00000359744 human ensembl 74_37 +1 known missense c.589 p.M197L 1.000 pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PHOSPHO2 HGNC ENSG00000144362 145 0 0 104 13 11.1111 DCAF17 0 genome.wustl.edu 37 2 172337582 172337582 + Missense_Mutation SNP T T G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 172337582 172337582 T G SNP DCAF17 ENST00000375255 human ensembl 74_37 +1 known missense c.1521 p.C507W 1.000 NULL NULL - no_errors DCAF17 HGNC ENSG00000115827 216 0 0 97 27 21.7742 DLX1 0 genome.wustl.edu 37 2 172950413 172950413 + Missense_Mutation SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 172950413 172950413 T A SNP DLX1 ENST00000361725 human ensembl 74_37 +1 known missense c.8 p.M3K 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX1 HGNC ENSG00000144355 225 0 0 120 10 7.69231 TTC30A 0 genome.wustl.edu 37 2 178481441 178481441 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 178481441 178481441 C G SNP TTC30A ENST00000355689 human ensembl 74_37 -1 known missense c.1989 p.W663C 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC ENSG00000197557 147 0 0 115 7 5.7377 MSGN1 0 genome.wustl.edu 37 2 17998331 17998331 + Silent SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 17998331 17998331 T C SNP MSGN1 ENST00000281047 human ensembl 74_37 +1 known silent c.546 p.L182 0.992 superfamily_bHLH_dom,smart_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MSGN1 HGNC ENSG00000151379 104 0 0 36 5 12.1951 SSFA2 0 genome.wustl.edu 37 2 182763743 182763743 + Missense_Mutation SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 182763743 182763743 A T SNP SSFA2 ENST00000431877 human ensembl 74_37 +1 known missense c.407 p.N136I 0.833 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 127 0 0 83 18 17.8218 PMS1 0 genome.wustl.edu 37 2 190742011 190742011 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 190742011 190742011 G A SNP PMS1 ENST00000441310 human ensembl 74_37 +1 known missense c.2648 p.R883H 0.817 NULL pfam_DNA_mismatch_repair_C,pfam_HMG_box_dom,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 85 0 0 57 8 12.3077 MYO1B 0 genome.wustl.edu 37 2 192141703 192141703 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 192141703 192141703 G A SNP MYO1B ENST00000304164 human ensembl 74_37 +1 known missense c.82 p.E28K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 173 0 0 106 8 7.01754 ABCA12 0 genome.wustl.edu 37 2 215866456 215866456 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 215866456 215866456 G C SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.2689 p.L897V 0.706 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 74 0 0 48 12 20 PECR 0 genome.wustl.edu 37 2 216930156 216930156 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 216930156 216930156 G A SNP PECR ENST00000265322 human ensembl 74_37 -1 known silent c.303 p.I101 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH - no_errors PECR HGNC ENSG00000115425 141 0 0 76 7 8.43373 TNS1 0 genome.wustl.edu 37 2 218713225 218713225 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 218713225 218713225 G A SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.1640 p.S547F 0.913 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 109 0 0 56 10 15.1515 SLC11A1 0 genome.wustl.edu 37 2 219254705 219254705 + Missense_Mutation SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 219254705 219254705 T C SNP SLC11A1 ENST00000233202 human ensembl 74_37 +1 known missense c.908 p.M303T 1.000 pfam_NRAMP-like,tigrfam_NRAMP-like pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A1 HGNC ENSG00000018280 92 0 0 45 5 10 CCDC108 0 genome.wustl.edu 37 2 219868898 219868898 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 219868898 219868898 C G SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.5331 p.E1777D 0.375 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 133 0 0 65 6 8.4507 CCDC108 0 genome.wustl.edu 37 2 219892492 219892492 + Nonsense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 219892492 219892492 C T SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known nonsense c.2091 p.W697* 1.000 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 148 0 0 71 5 6.57895 MYEOV2 0 genome.wustl.edu 37 2 241066106 241066106 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 241066106 241066106 G T SNP MYEOV2 ENST00000307266 human ensembl 74_37 -1 known missense c.633 p.S211R 0.000 NULL NULL - no_errors MYEOV2 HGNC ENSG00000172428 182 0 0 100 11 9.90991 HADHB 0 genome.wustl.edu 37 2 26496598 26496598 + Missense_Mutation SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 26496598 26496598 A T SNP HADHB ENST00000317799 human ensembl 74_37 +1 known missense c.334 p.T112S 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,tigrfam_Thiolase - no_errors HADHB HGNC ENSG00000138029 72 0 0 47 3 6 MRPL33 0 genome.wustl.edu 37 2 28002457 28002457 + RNA SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 28002457 28002457 C T SNP MRPL33 ENST00000476552 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MRPL33 HGNC ENSG00000243147 113 0 0 63 8 11.2676 CALM2 0 genome.wustl.edu 37 2 47389473 47389473 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 47389473 47389473 G T SNP CALM2 ENST00000272298 human ensembl 74_37 -1 known missense c.237 p.D79E 1.000 pfam_EF-hand_Ca_insen,pfscan_EF_hand_dom pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors CALM2 HGNC ENSG00000143933 130 0 0 46 9 16.3636 NRXN1 0 genome.wustl.edu 37 2 50318609 50318609 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 50318609 50318609 C T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.3546 p.K1182 0.994 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 114 0 0 101 8 7.33945 CLEC4F 0 genome.wustl.edu 37 2 71039583 71039583 + Missense_Mutation SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 71039583 71039583 T A SNP CLEC4F ENST00000272367 human ensembl 74_37 -1 known missense c.1535 p.E512V 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC ENSG00000152672 137 0 0 80 5 5.88235 RTKN 0 genome.wustl.edu 37 2 74659594 74659594 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 74659594 74659594 C T SNP RTKN ENST00000272430 human ensembl 74_37 -1 known missense c.311 p.R104Q 1.000 NULL pfam_Pleckstrin_homology,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN HGNC ENSG00000114993 223 0 0 101 8 7.33945 ANKRD36 0 genome.wustl.edu 37 2 97860487 97860487 + Missense_Mutation SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 97860487 97860487 T C SNP ANKRD36 ENST00000420699 human ensembl 74_37 +1 known missense c.2474 p.L825S 0.064 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 36 0 0 28 3 9.67742 CNGA3 0 genome.wustl.edu 37 2 99013226 99013226 + Silent SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 2 99013226 99013226 T A SNP CNGA3 ENST00000272602 human ensembl 74_37 +1 known silent c.1593 p.A531 0.275 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_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 251 0 0 137 13 8.66667 PSMF1 0 genome.wustl.edu 37 20 1145715 1145715 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 1145715 1145715 G A SNP PSMF1 ENST00000333082 human ensembl 74_37 +1 known missense c.807 p.M269I 1.000 NULL pfam_FP_dom,pfam_PI31_Prot_Reg - no_errors PSMF1 HGNC ENSG00000125818 150 0 0 69 5 6.75676 FKBP1A 0 genome.wustl.edu 37 20 1352875 1352875 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 1352875 1352875 C A SNP FKBP1A ENST00000381719 human ensembl 74_37 -1 known missense c.208 p.G70C 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP1A HGNC ENSG00000088832 138 0 0 72 9 11.1111 CRNKL1 0 genome.wustl.edu 37 20 20026089 20026089 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 20026089 20026089 C G SNP CRNKL1 ENST00000377340 human ensembl 74_37 -1 known missense c.1147 p.A383P 1.000 pfam_HAT,smart_HAT pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 202 0 0 139 12 7.94702 XRN2 0 genome.wustl.edu 37 20 21307129 21307129 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 21307129 21307129 C G SNP XRN2 ENST00000377191 human ensembl 74_37 +1 known missense c.205 p.P69A 1.000 pfam_Put_53exo,pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 120 0 0 76 10 11.6279 ZNF337 0 genome.wustl.edu 37 20 25666808 25666808 + RNA SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 25666808 25666808 G A SNP ZNF337 ENST00000481610 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors ZNF337 HGNC ENSG00000130684 104 0 0 57 7 10.9375 REM1 0 genome.wustl.edu 37 20 30064443 30064443 + Missense_Mutation SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 30064443 30064443 T A SNP REM1 ENST00000201979 human ensembl 74_37 +1 known missense c.195 p.D65E 0.000 pirsf_Small_GTPase_GEM/REM/Rad pirsf_Small_GTPase_GEM/REM/Rad,pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors REM1 HGNC ENSG00000088320 177 0 0 79 9 10.2273 TRPC4AP 0 genome.wustl.edu 37 20 33657209 33657209 + Missense_Mutation SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 33657209 33657209 A T SNP TRPC4AP ENST00000252015 human ensembl 74_37 -1 known missense c.304 p.S102T 1.000 NULL pfam_DUF3689 - no_errors TRPC4AP HGNC ENSG00000100991 96 0 0 76 5 6.17284 DLGAP4 0 genome.wustl.edu 37 20 35060579 35060579 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 35060579 35060579 G A SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known silent c.459 p.K153 1.000 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 153 0 0 63 5 7.35294 BLCAP 0 genome.wustl.edu 37 20 36147487 36147487 + Silent SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 36147487 36147487 G C SNP BLCAP ENST00000373537 human ensembl 74_37 -1 known silent c.90 p.G30 1.000 pfam_BC10-like pfam_BC10-like - no_errors BLCAP HGNC ENSG00000166619 55 0 0 34 4 10.5263 SLC32A1 0 genome.wustl.edu 37 20 37356421 37356421 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 37356421 37356421 G A SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known silent c.717 p.S239 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 75 0 0 45 3 6.25 PTPRT 0 genome.wustl.edu 37 20 40743892 40743892 + Missense_Mutation SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 40743892 40743892 T C SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.3103 p.I1035V 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 185 0 0 96 8 7.69231 MATN4 0 genome.wustl.edu 37 20 43933364 43933364 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 43933364 43933364 C T SNP MATN4 ENST00000372754 human ensembl 74_37 -1 known silent c.147 p.E49 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A - no_errors MATN4 HGNC ENSG00000124159 68 0 0 51 6 10.5263 TNNC2 0 genome.wustl.edu 37 20 44453269 44453269 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 44453269 44453269 C T SNP TNNC2 ENST00000372555 human ensembl 74_37 -1 known missense c.64 p.A22T 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors TNNC2 HGNC ENSG00000101470 102 0 0 61 4 6.15385 PREX1 0 genome.wustl.edu 37 20 47274717 47274717 + Missense_Mutation SNP T T G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 47274717 47274717 T G SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.1931 p.K644T 1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 793 0 0 296 22 6.91824 CASS4 0 genome.wustl.edu 37 20 55033451 55033451 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 55033451 55033451 C A SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known missense c.2009 p.P670H 0.000 pfam_CAS_DUF3513 pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 114 0 0 79 6 7.05882 MCM8 0 genome.wustl.edu 37 20 5932800 5932800 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 5932800 5932800 C A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.139 p.R47S 0.007 NULL 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 130 0 0 59 14 19.1781 MCM8 0 genome.wustl.edu 37 20 5948171 5948171 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 5948171 5948171 G A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.965 p.S322N 1.000 superfamily_NA-bd_OB-fold,smart_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 149 0 0 70 31 30.6931 FERMT1 0 genome.wustl.edu 37 20 6088221 6088221 + Silent SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 6088221 6088221 G C SNP FERMT1 ENST00000217289 human ensembl 74_37 -1 known silent c.807 p.L269 0.996 pfam_FERM_N,smart_Band_41_domain pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT1 HGNC ENSG00000101311 65 0 0 37 5 11.9048 RBBP8NL 0 genome.wustl.edu 37 20 60986024 60986024 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 60986024 60986024 C T SNP RBBP8NL ENST00000252998 human ensembl 74_37 -1 known silent c.1905 p.R635 0.001 NULL pfam_CtIP_N - no_errors RBBP8NL HGNC ENSG00000130701 234 1 0.425532 155 9 5.4878 GID8 0 genome.wustl.edu 37 20 61574443 61574443 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 61574443 61574443 C G SNP GID8 ENST00000266069 human ensembl 74_37 +1 known missense c.223 p.L75V 0.542 smart_CTLH_C,pfscan_CTLH_C pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors GID8 HGNC ENSG00000101193 145 0 0 130 7 5.10949 ZGPAT 0 genome.wustl.edu 37 20 62367201 62367201 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 20 62367201 62367201 G A SNP ZGPAT ENST00000328969 human ensembl 74_37 +1 known missense c.1526 p.R509Q 1.000 NULL pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom - no_errors ZGPAT HGNC ENSG00000197114 91 0 0 44 4 8.33333 IFNAR2 0 genome.wustl.edu 37 21 34621112 34621112 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 21 34621112 34621112 G C SNP IFNAR2 ENST00000342136 human ensembl 74_37 +1 known missense c.493 p.D165H 0.000 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IFNAR2 HGNC ENSG00000159110 227 0 0 157 14 8.18713 TFF3 0 genome.wustl.edu 37 21 43733598 43733598 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 21 43733598 43733598 C T SNP TFF3 ENST00000291525 human ensembl 74_37 -1 known missense c.376 p.A126T 0.004 superfamily_P_trefoil,smart_P_trefoil pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,prints_P_trefoil_chordata - no_errors TFF3 HGNC ENSG00000160180 89 0 0 43 10 18.8679 TMPRSS3 0 genome.wustl.edu 37 21 43795903 43795903 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 21 43795903 43795903 G A SNP TMPRSS3 ENST00000380399 human ensembl 74_37 -1 known silent c.1521 p.I507 0.001 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SRCR,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS3 HGNC ENSG00000160183 406 0 0 167 15 8.24176 KRTAP12-3 0 genome.wustl.edu 37 21 46078067 46078067 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 21 46078067 46078067 C T SNP KRTAP12-3 ENST00000397907 human ensembl 74_37 +1 known silent c.171 p.P57 0.101 NULL NULL - no_errors KRTAP12-3 HGNC ENSG00000205439 217 0 0 104 10 8.77193 KRTAP10-12 0 genome.wustl.edu 37 21 46117179 46117179 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 21 46117179 46117179 C A SNP KRTAP10-12 ENST00000400365 human ensembl 74_37 +1 known missense c.63 p.D21E 0.030 NULL NULL - no_errors KRTAP10-12 HGNC ENSG00000189169 263 0 0 130 13 9.09091 DIP2A 0 genome.wustl.edu 37 21 47918594 47918594 + Missense_Mutation SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 21 47918594 47918594 A T SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known missense c.503 p.D168V 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 253 0 0 166 15 8.28729 ZDHHC8 0 genome.wustl.edu 37 22 20128487 20128487 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 22 20128487 20128487 G T SNP ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known missense c.846 p.K282N 0.999 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 181 0 0 85 14 14.1414 LZTR1 0 genome.wustl.edu 37 22 21333857 21333857 + RNA SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 22 21333857 21333857 G T SNP LZTR1 ENST00000479606 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LZTR1 HGNC ENSG00000099949 122 0 0 82 14 14.5833 IGLV11-55 0 genome.wustl.edu 37 22 22556522 22556522 + Silent SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 22 22556522 22556522 T C SNP IGLV11-55 ENST00000390286 human ensembl 74_37 +1 known silent c.336 p.D112 0.971 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGLV11-55 HGNC ENSG00000211641 170 0 0 82 8 8.88889 DDX17 0 genome.wustl.edu 37 22 38889732 38889732 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 22 38889732 38889732 C G SNP DDX17 ENST00000396821 human ensembl 74_37 -1 known missense c.1370 p.R457T 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC ENSG00000100201 117 0 0 64 5 7.24638 RRP7B 0 genome.wustl.edu 37 22 42972601 42972601 + RNA SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 22 42972601 42972601 A T SNP RRP7B ENST00000357802 human ensembl 74_37 -1 known rna NULL NULL 0.743 - - - no_errors RRP7B HGNC ENSG00000182841 22 0 0 10 3 23.0769 PARVG 0 genome.wustl.edu 37 22 44585079 44585079 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 22 44585079 44585079 G T SNP PARVG ENST00000415224 human ensembl 74_37 +1 known missense c.333 p.E111D 0.994 pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVG HGNC ENSG00000138964 130 0 0 42 4 8.69565 MYH15 0 genome.wustl.edu 37 3 108135665 108135665 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 108135665 108135665 C A SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known missense c.4002 p.E1334D 0.482 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 193 0 0 93 12 11.4286 DPPA4 0 genome.wustl.edu 37 3 109050752 109050752 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 109050752 109050752 C A SNP DPPA4 ENST00000335658 human ensembl 74_37 -1 known missense c.305 p.W102L 1.000 NULL NULL - no_errors DPPA4 HGNC ENSG00000121570 202 0 0 136 13 8.72483 DPPA4 0 genome.wustl.edu 37 3 109050776 109050776 + Missense_Mutation SNP A A C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 109050776 109050776 A C SNP DPPA4 ENST00000335658 human ensembl 74_37 -1 known missense c.281 p.I94S 0.004 NULL NULL - no_errors DPPA4 HGNC ENSG00000121570 213 0 0 139 18 11.465 VGLL4 0 genome.wustl.edu 37 3 11600159 11600159 + Silent SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 11600159 11600159 C G SNP VGLL4 ENST00000430365 human ensembl 74_37 -1 known silent c.762 p.T254 0.988 smart_TDU_repeat smart_TDU_repeat - no_errors VGLL4 HGNC ENSG00000144560 208 0 0 123 10 7.5188 NDUFB4 0 genome.wustl.edu 37 3 120315275 120315275 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 120315275 120315275 C T SNP NDUFB4 ENST00000184266 human ensembl 74_37 +1 known silent c.69 p.Y23 0.897 pfam_NADH_UbQ_OxRdtase_NDUFB4_su pfam_NADH_UbQ_OxRdtase_NDUFB4_su - no_errors NDUFB4 HGNC ENSG00000065518 52 0 0 31 5 13.8889 COL6A6 0 genome.wustl.edu 37 3 130300458 130300458 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 130300458 130300458 C A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.3601 p.Q1201K 0.975 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 152 0 0 74 7 8.64198 RAB6B 0 genome.wustl.edu 37 3 133558433 133558433 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 133558433 133558433 C T SNP RAB6B ENST00000285208 human ensembl 74_37 -1 known silent c.318 p.K106 0.997 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB6B HGNC ENSG00000154917 192 0 0 103 17 14.1667 XRN1 0 genome.wustl.edu 37 3 142141456 142141456 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 142141456 142141456 C A SNP XRN1 ENST00000264951 human ensembl 74_37 -1 known missense c.935 p.G312V 1.000 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 112 1 0.884956 83 10 10.7527 ATR 0 genome.wustl.edu 37 3 142217519 142217519 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 142217519 142217519 C T SNP ATR ENST00000350721 human ensembl 74_37 -1 known silent c.5478 p.V1826 0.998 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 51 0 0 32 3 8.57143 CP 0 genome.wustl.edu 37 3 148899805 148899805 + Silent SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 148899805 148899805 A T SNP CP ENST00000264613 human ensembl 74_37 -1 known silent c.2541 p.T847 0.008 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 145 0 0 76 8 9.52381 TSC22D2 0 genome.wustl.edu 37 3 150127780 150127780 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 150127780 150127780 G C SNP TSC22D2 ENST00000361875 human ensembl 74_37 +1 known missense c.643 p.D215H 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D2 HGNC ENSG00000196428 186 0 0 87 7 7.44681 CCNL1 0 genome.wustl.edu 37 3 156867644 156867644 + Missense_Mutation SNP A A C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 156867644 156867644 A C SNP CCNL1 ENST00000295926 human ensembl 74_37 -1 known missense c.1002 p.F334L 1.000 pirsf_Cyclin_L pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL1 HGNC ENSG00000163660 103 0 0 66 9 12 PHC3 0 genome.wustl.edu 37 3 169824657 169824657 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 169824657 169824657 G A SNP PHC3 ENST00000495893 human ensembl 74_37 -1 known missense c.2431 p.R811W 0.937 pfscan_Znf_FCS pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC3 HGNC ENSG00000173889 65 0 0 36 2 5.26316 TRA2B 0 genome.wustl.edu 37 3 185643391 185643391 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 185643391 185643391 C T SNP TRA2B ENST00000453386 human ensembl 74_37 -1 known missense c.194 p.R65Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2B HGNC ENSG00000136527 117 0 0 79 5 5.95238 AHSG 0 genome.wustl.edu 37 3 186334974 186334974 + Splice_Site SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 186334974 186334974 A G SNP AHSG ENST00000411641 human ensembl 74_37 +1 known splice_site c.410-2 e4-2 0.994 - - - no_errors AHSG HGNC ENSG00000145192 163 0 0 79 6 7.05882 PPP1R2 0 genome.wustl.edu 37 3 195269755 195269755 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 195269755 195269755 G A SNP PPP1R2 ENST00000328432 human ensembl 74_37 -1 known missense c.94 p.P32S 0.998 NULL pfam_PPI-2 - no_errors PPP1R2 HGNC ENSG00000184203 28 0 0 9 4 30.7692 KAT2B 0 genome.wustl.edu 37 3 20168959 20168959 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 20168959 20168959 G A SNP KAT2B ENST00000263754 human ensembl 74_37 +1 known missense c.1667 p.G556D 1.000 pirsf_Hist_acetylase_PCAF,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2B HGNC ENSG00000114166 152 0 0 91 9 9 STT3B 0 genome.wustl.edu 37 3 31663715 31663715 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 31663715 31663715 G A SNP STT3B ENST00000295770 human ensembl 74_37 +1 known missense c.1454 p.G485E 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3B HGNC ENSG00000163527 149 0 0 71 13 15.4762 SCN11A 0 genome.wustl.edu 37 3 38950566 38950566 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 38950566 38950566 G C SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.1221 p.N407K 0.942 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 261 0 0 143 15 9.49367 SCN11A 0 genome.wustl.edu 37 3 38951694 38951694 + Missense_Mutation SNP A A C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 38951694 38951694 A C SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.964 p.C322G 0.996 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 116 0 0 58 6 9.375 LIMD1 0 genome.wustl.edu 37 3 45677682 45677682 + Silent SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 45677682 45677682 C G SNP LIMD1 ENST00000273317 human ensembl 74_37 +1 known silent c.1449 p.G483 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 584 0 0 217 44 16.8582 COL7A1 0 genome.wustl.edu 37 3 48614351 48614351 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 48614351 48614351 C G SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.5570 p.G1857A 1.000 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 212 0 0 112 9 7.43802 COL7A1 0 genome.wustl.edu 37 3 48614432 48614432 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 48614432 48614432 C G SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.5561 p.G1854A 1.000 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 250 0 0 118 12 9.23077 COL7A1 0 genome.wustl.edu 37 3 48625317 48625317 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 48625317 48625317 G A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known silent c.2766 p.D922 0.002 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 37 0 0 17 3 15 P4HTM 0 genome.wustl.edu 37 3 49042339 49042339 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 49042339 49042339 C G SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.933 p.S311R 0.096 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 211 0 0 61 28 31.4607 BSN 0 genome.wustl.edu 37 3 49700849 49700849 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 49700849 49700849 C A SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.11258 p.A3753D 0.084 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 139 0 0 47 4 7.84314 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 328 0 0 77 39 33.6207 UBA7 0 genome.wustl.edu 37 3 49847796 49847796 + Silent SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 49847796 49847796 C G SNP UBA7 ENST00000333486 human ensembl 74_37 -1 known silent c.1533 p.P511 0.000 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA7 HGNC ENSG00000182179 211 0 0 109 9 7.62712 BHLHE40 0 genome.wustl.edu 37 3 5025334 5025334 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 5025334 5025334 C T SNP BHLHE40 ENST00000256495 human ensembl 74_37 +1 known missense c.1196 p.A399V 1.000 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors BHLHE40 HGNC ENSG00000134107 200 1 0.497512 141 9 6 APPL1 0 genome.wustl.edu 37 3 57294000 57294000 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 57294000 57294000 C G SNP APPL1 ENST00000288266 human ensembl 74_37 +1 known missense c.1611 p.I537M 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL1 HGNC ENSG00000157500 59 0 0 40 3 6.97674 LMOD3 0 genome.wustl.edu 37 3 69171378 69171378 + Nonsense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 69171378 69171378 G A SNP LMOD3 ENST00000420581 human ensembl 74_37 -1 known nonsense c.160 p.Q54* 1.000 pfam_Tropomodulin pfam_Tropomodulin - no_errors LMOD3 HGNC ENSG00000163380 42 0 0 26 4 13.3333 OR5K4 0 genome.wustl.edu 37 3 98073414 98073414 + Silent SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 98073414 98073414 T A SNP OR5K4 ENST00000354924 human ensembl 74_37 +1 known silent c.717 p.S239 0.980 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 OR5K4 HGNC ENSG00000196098 161 0 0 118 10 7.8125 DKK2 0 genome.wustl.edu 37 4 107956604 107956604 + Nonsense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 4 107956604 107956604 G A SNP DKK2 ENST00000285311 human ensembl 74_37 -1 novel nonsense c.145 p.Q49* 0.994 NULL pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd - no_errors DKK2 HGNC ENSG00000155011 154 0 0 77 10 11.4943 CFI 0 genome.wustl.edu 37 4 110663684 110663684 + Nonsense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 4 110663684 110663684 G T SNP CFI ENST00000394634 human ensembl 74_37 -1 known nonsense c.1497 p.Y499* 0.208 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors CFI HGNC ENSG00000205403 105 0 0 74 7 8.64198 CFI 0 genome.wustl.edu 37 4 110663715 110663715 + Missense_Mutation SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 4 110663715 110663715 A G SNP CFI ENST00000394634 human ensembl 74_37 -1 known missense c.1466 p.V489A 0.895 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors CFI HGNC ENSG00000205403 111 0 0 80 9 10.1124 ENPEP 0 genome.wustl.edu 37 4 111397885 111397885 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 4 111397885 111397885 C T SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known silent c.315 p.H105 0.780 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 234 0 0 94 22 18.9655 TLL1 0 genome.wustl.edu 37 4 166935594 166935594 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 4 166935594 166935594 G C SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.924 p.M308I 1.000 pfam_Peptidase_M12A,pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 370 0 0 243 20 7.60456 HTT 0 genome.wustl.edu 37 4 3190712 3190712 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 4 3190712 3190712 G C SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.5260 p.D1754H 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 150 0 0 94 12 11.3208 HGFAC 0 genome.wustl.edu 37 4 3446393 3446393 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 4 3446393 3446393 G A SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known silent c.774 p.L258 1.000 pirsf_Coagulation_fac_XIIa/HGFA,pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 29 0 0 18 4 18.1818 GABRA2 0 genome.wustl.edu 37 4 46307710 46307710 + Missense_Mutation SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 4 46307710 46307710 T A SNP GABRA2 ENST00000540012 human ensembl 74_37 -1 known missense c.413 p.E138V 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 57 0 0 61 8 11.5942 GABRA2 0 genome.wustl.edu 37 4 46307711 46307711 + Nonsense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 4 46307711 46307711 C A SNP GABRA2 ENST00000540012 human ensembl 74_37 -1 known nonsense c.412 p.E138* 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 58 0 0 59 8 11.9403 PIGG 0 genome.wustl.edu 37 4 533012 533012 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 4 533012 533012 G T SNP PIGG ENST00000453061 human ensembl 74_37 +1 known missense c.2806 p.V936F 0.065 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 108 0 0 90 7 7.21649 KDR 0 genome.wustl.edu 37 4 55980320 55980320 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 4 55980320 55980320 G A SNP KDR ENST00000263923 human ensembl 74_37 -1 known silent c.771 p.D257 0.977 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-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_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 215 0 0 164 10 5.74713 EVC 0 genome.wustl.edu 37 4 5806514 5806514 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 4 5806514 5806514 C T SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.2507 p.S836L 0.000 NULL NULL - no_errors EVC HGNC ENSG00000072840 143 0 0 63 4 5.97015 CRMP1 0 genome.wustl.edu 37 4 5830377 5830377 + Missense_Mutation SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 4 5830377 5830377 A G SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known missense c.1642 p.F548L 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 64 0 0 33 4 10.8108 KIAA0232 0 genome.wustl.edu 37 4 6862720 6862720 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 4 6862720 6862720 C G SNP KIAA0232 ENST00000307659 human ensembl 74_37 +1 known missense c.611 p.S204C 1.000 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 181 0 0 125 7 5.30303 IGJ 0 genome.wustl.edu 37 4 71522076 71522076 + Silent SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 4 71522076 71522076 G C SNP IGJ ENST00000543780 human ensembl 74_37 -1 known silent c.498 p.A166 0.001 NULL NULL - no_errors IGJ HGNC ENSG00000132465 87 0 0 59 6 9.23077 MRPL1 0 genome.wustl.edu 37 4 78871018 78871018 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 4 78871018 78871018 G A SNP MRPL1 ENST00000315567 human ensembl 74_37 +1 known missense c.845 p.R282K 1.000 pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like,tigrfam_Ribosomal_L1_mit - no_errors MRPL1 HGNC ENSG00000169288 150 0 0 82 8 8.88889 HELQ 0 genome.wustl.edu 37 4 84342825 84342825 + Missense_Mutation SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 4 84342825 84342825 T A SNP HELQ ENST00000295488 human ensembl 74_37 -1 known missense c.2840 p.E947V 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 97 0 0 51 4 7.27273 GPRIN3 0 genome.wustl.edu 37 4 90170714 90170714 + Missense_Mutation SNP T T G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 4 90170714 90170714 T G SNP GPRIN3 ENST00000333209 human ensembl 74_37 -1 known missense c.548 p.D183A 0.001 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 130 0 0 111 7 5.9322 SLCO4C1 0 genome.wustl.edu 37 5 101631698 101631698 + Nonsense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 101631698 101631698 C T SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known nonsense c.269 p.W90* 0.938 superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 102 0 0 51 6 10.5263 SLC12A7 0 genome.wustl.edu 37 5 1076301 1076301 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 1076301 1076301 G T SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known missense c.1799 p.T600N 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 41 0 0 19 3 13.6364 SEC24A 0 genome.wustl.edu 37 5 134010858 134010858 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 134010858 134010858 C G SNP SEC24A ENST00000398844 human ensembl 74_37 +1 known missense c.1102 p.P368A 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 104 0 0 68 6 8.10811 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 137503737 137503737 C A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.673 p.G225C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 216 1 0.460829 67 46 40.708 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 217 0 0 58 68 53.9683 GFRA3 0 genome.wustl.edu 37 5 137600131 137600131 + Silent SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 137600131 137600131 G T SNP GFRA3 ENST00000274721 human ensembl 74_37 -1 known silent c.198 p.S66 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 149 0 0 53 8 13.1148 HBEGF 0 genome.wustl.edu 37 5 139715520 139715520 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 139715520 139715520 G C SNP HBEGF ENST00000230990 human ensembl 74_37 -1 known missense c.491 p.A164G 1.000 NULL pfscan_EG-like_dom - no_errors HBEGF HGNC ENSG00000113070 178 0 0 84 11 11.5789 SLC4A9 0 genome.wustl.edu 37 5 139745800 139745800 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 139745800 139745800 C A SNP SLC4A9 ENST00000230993 human ensembl 74_37 +1 known missense c.2036 p.A679D 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A9 HGNC ENSG00000113073 36 0 0 17 3 15 IK 0 genome.wustl.edu 37 5 140038627 140038627 + Missense_Mutation SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 140038627 140038627 A G SNP IK ENST00000417647 human ensembl 74_37 +1 known missense c.1054 p.R352G 0.995 NULL pfam_RED_N,pfam_RED_C - no_errors IK HGNC ENSG00000113141 103 0 0 42 4 8.69565 PCDHA2 0 genome.wustl.edu 37 5 140176641 140176641 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 140176641 140176641 G C SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known missense c.2092 p.V698L 0.992 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 295 0 0 126 13 9.35252 PCDHA4 0 genome.wustl.edu 37 5 140187452 140187452 + Missense_Mutation SNP A A C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 140187452 140187452 A C SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.680 p.Q227P 0.023 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 121 0 0 95 11 10.3774 PCDHA5 0 genome.wustl.edu 37 5 140202534 140202534 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 140202534 140202534 G A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known missense c.1174 p.V392I 0.000 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 PCDHA5 HGNC ENSG00000204965 300 0 0 201 18 8.21918 PCDHA12 0 genome.wustl.edu 37 5 140255711 140255711 + Silent SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 140255711 140255711 T A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.654 p.G218 0.940 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 PCDHA12 HGNC ENSG00000251664 146 0 0 71 6 7.79221 PCDHB16 0 genome.wustl.edu 37 5 140564258 140564258 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 140564258 140564258 C T SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known silent c.2124 p.F708 0.381 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 321 0 0 191 16 7.72947 PCDHB14 0 genome.wustl.edu 37 5 140603844 140603844 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 140603844 140603844 C A SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.767 p.P256H 0.010 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 138 1 0.719424 88 7 7.36842 PCDHB15 0 genome.wustl.edu 37 5 140627303 140627303 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 140627303 140627303 G A SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known silent c.2157 p.A719 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 386 0 0 233 16 6.4257 PCDHGA7 0 genome.wustl.edu 37 5 140763604 140763604 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 140763604 140763604 G A SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.1138 p.G380S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 44 0 0 31 6 16.2162 PCDHGA8 0 genome.wustl.edu 37 5 140772682 140772682 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 140772682 140772682 G A SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.302 p.R101Q 0.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 138 1 0.719424 80 9 10.1124 PCDHGA12 0 genome.wustl.edu 37 5 140810919 140810919 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 140810919 140810919 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.593 p.R198H 0.989 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 269 0 0 134 20 12.987 PCDHGC4 0 genome.wustl.edu 37 5 140864787 140864787 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 140864787 140864787 C A SNP PCDHGC4 ENST00000306593 human ensembl 74_37 +1 known missense c.47 p.T16N 0.981 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC4 HGNC ENSG00000242419 140 0 0 66 12 15.3846 ABLIM3 0 genome.wustl.edu 37 5 148630060 148630060 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 148630060 148630060 C T SNP ABLIM3 ENST00000309868 human ensembl 74_37 +1 known silent c.1780 p.L594 1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM3 HGNC ENSG00000173210 73 0 0 47 4 7.84314 ZNF300P1 0 genome.wustl.edu 37 5 150322192 150322192 + RNA SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 150322192 150322192 T C SNP ZNF300P1 ENST00000520773 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF300P1 HGNC ENSG00000197083 146 0 0 98 11 10.0917 NMUR2 0 genome.wustl.edu 37 5 151771908 151771908 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 151771908 151771908 G C SNP NMUR2 ENST00000255262 human ensembl 74_37 -1 known missense c.1092 p.I364M 0.999 prints_NeuromedU_rcpt_2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn - no_errors NMUR2 HGNC ENSG00000132911 191 0 0 111 6 5.12821 FAM114A2 0 genome.wustl.edu 37 5 153406876 153406876 + Nonsense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 153406876 153406876 C A SNP FAM114A2 ENST00000351797 human ensembl 74_37 -1 known nonsense c.649 p.E217* 1.000 pfam_DUF719 pfam_DUF719 - no_errors FAM114A2 HGNC ENSG00000055147 51 0 0 37 6 13.9535 GALNT10 0 genome.wustl.edu 37 5 153760070 153760070 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 153760070 153760070 G A SNP GALNT10 ENST00000297107 human ensembl 74_37 +1 known missense c.817 p.D273N 0.998 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 GALNT10 HGNC ENSG00000164574 255 0 0 130 14 9.72222 DRD1 0 genome.wustl.edu 37 5 174868997 174868997 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 174868997 174868997 G A SNP DRD1 ENST00000393752 human ensembl 74_37 -1 known missense c.1106 p.A369V 0.999 prints_Dopamine_D1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D1_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_ADR_fam - no_errors DRD1 HGNC ENSG00000184845 210 0 0 104 7 6.30631 CDH10 0 genome.wustl.edu 37 5 24537494 24537494 + Missense_Mutation SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 24537494 24537494 A T SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.521 p.V174D 0.997 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 270 0 0 178 17 8.71795 UGT3A1 0 genome.wustl.edu 37 5 35955903 35955903 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 35955903 35955903 C T SNP UGT3A1 ENST00000274278 human ensembl 74_37 -1 known missense c.1139 p.R380H 0.501 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC ENSG00000145626 149 0 0 96 7 6.79612 EGFLAM 0 genome.wustl.edu 37 5 38407142 38407142 + Missense_Mutation SNP T T G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 38407142 38407142 T G SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known missense c.1041 p.C347W 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 135 0 0 67 10 12.987 C6 0 genome.wustl.edu 37 5 41161823 41161823 + Missense_Mutation SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 41161823 41161823 T C SNP C6 ENST00000263413 human ensembl 74_37 -1 known missense c.1430 p.K477R 1.000 pfam_MACPF,smart_MACPF,prints_MAC_perforin pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 182 0 0 128 8 5.88235 ANKRD55 0 genome.wustl.edu 37 5 55471985 55471985 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 55471985 55471985 G A SNP ANKRD55 ENST00000341048 human ensembl 74_37 -1 known silent c.306 p.T102 0.999 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD55 HGNC ENSG00000164512 262 0 0 108 10 8.47458 DIMT1 0 genome.wustl.edu 37 5 61690434 61690434 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 61690434 61690434 C T SNP DIMT1 ENST00000199320 human ensembl 74_37 -1 known silent c.447 p.R149 1.000 pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase - no_errors DIMT1 HGNC ENSG00000086189 126 0 0 58 13 18.3099 KIAA0825 0 genome.wustl.edu 37 5 93856004 93856004 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 5 93856004 93856004 C G SNP KIAA0825 ENST00000427991 human ensembl 74_37 -1 known missense c.919 p.V307L 0.023 NULL NULL - no_errors KIAA0825 HGNC ENSG00000185261 126 0 0 75 4 5.06329 MAK 0 genome.wustl.edu 37 6 10796386 10796386 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 10796386 10796386 G C SNP MAK ENST00000313243 human ensembl 74_37 -1 known missense c.988 p.Q330E 0.091 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAK HGNC ENSG00000111837 157 0 0 92 10 9.80392 SLC22A16 0 genome.wustl.edu 37 6 110746263 110746263 + Missense_Mutation SNP A A C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 110746263 110746263 A C SNP SLC22A16 ENST00000368919 human ensembl 74_37 -1 known missense c.1547 p.L516R 0.780 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A16 HGNC ENSG00000004809 131 0 0 86 10 10.4167 RFPL4B 0 genome.wustl.edu 37 6 112670980 112670980 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 112670980 112670980 C G SNP RFPL4B ENST00000441065 human ensembl 74_37 +1 known missense c.70 p.L24V 0.001 smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL4B HGNC ENSG00000251258 113 0 0 39 5 11.3636 STL 0 genome.wustl.edu 37 6 125232012 125232012 + RNA SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 125232012 125232012 A G SNP STL ENST00000439075 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-510H23.1 Clone_based_vega_gene ENSG00000236548 61 0 0 29 3 9.375 MED23 0 genome.wustl.edu 37 6 131929185 131929185 + Silent SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 131929185 131929185 G C SNP MED23 ENST00000368058 human ensembl 74_37 -1 known silent c.1122 p.G374 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 136 0 0 68 6 8.10811 IFNGR1 0 genome.wustl.edu 37 6 137524711 137524711 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 137524711 137524711 C G SNP IFNGR1 ENST00000367739 human ensembl 74_37 -1 known missense c.658 p.V220L 0.000 pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC ENSG00000027697 119 0 0 65 5 7.14286 GRM1 0 genome.wustl.edu 37 6 146351337 146351337 + Silent SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 146351337 146351337 T C SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known silent c.684 p.S228 0.777 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 101 0 0 79 10 11.236 SNX9 0 genome.wustl.edu 37 6 158330999 158330999 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 158330999 158330999 C T SNP SNX9 ENST00000392185 human ensembl 74_37 +1 known silent c.891 p.L297 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_Snx9,pfscan_Phox pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX9 HGNC ENSG00000130340 144 0 0 86 18 17.3077 C6orf118 0 genome.wustl.edu 37 6 165715612 165715612 + Missense_Mutation SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 165715612 165715612 T C SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.199 p.N67D 1.000 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 183 0 0 85 13 13.2653 MYLK4 0 genome.wustl.edu 37 6 2678542 2678542 + Missense_Mutation SNP A A C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 2678542 2678542 A C SNP MYLK4 ENST00000268446 human ensembl 74_37 -1 known missense c.952 p.C318G 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 MYLK4 HGNC ENSG00000145949 210 0 0 89 19 17.5926 SCAND3 0 genome.wustl.edu 37 6 28547186 28547186 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 28547186 28547186 C A SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.431 p.G144V 0.000 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 147 0 0 115 8 6.50407 ZFP57 0 genome.wustl.edu 37 6 29643777 29643777 + Silent SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 29643777 29643777 T A SNP ZFP57 ENST00000488757 human ensembl 74_37 -1 known silent c.183 p.L61 0.002 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP57 HGNC ENSG00000204644 593 1 0.16835 248 25 9.15751 C6orf136 0 genome.wustl.edu 37 6 30615107 30615107 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 30615107 30615107 G A SNP C6orf136 ENST00000293604 human ensembl 74_37 +1 known silent c.99 p.R33 0.000 NULL pfam_DUF2358 - no_errors C6orf136 HGNC ENSG00000204564 45 0 0 18 3 14.2857 VARS2 0 genome.wustl.edu 37 6 30884912 30884912 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 30884912 30884912 G C SNP VARS2 ENST00000541562 human ensembl 74_37 +1 known missense c.874 p.V292L 0.997 pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 255 0 0 124 11 8.14815 NEU1 0 genome.wustl.edu 37 6 31827959 31827959 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 31827959 31827959 C T SNP NEU1 ENST00000375631 human ensembl 74_37 -1 known missense c.881 p.R294H 1.000 superfamily_Sialidases superfamily_Sialidases - no_errors NEU1 HGNC ENSG00000204386 157 0 0 78 5 6.0241 NOTCH4 0 genome.wustl.edu 37 6 32188548 32188548 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 32188548 32188548 G T SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.907 p.P303T 1.000 pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 189 0 0 79 6 7.05882 CDKN1A 0 genome.wustl.edu 37 6 36652140 36652140 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 36652140 36652140 G A SNP CDKN1A ENST00000448526 human ensembl 74_37 +1 known missense c.364 p.E122K 0.967 NULL pfam_CDI - no_errors CDKN1A HGNC ENSG00000124762 52 0 0 31 2 6.06061 DNAH8 0 genome.wustl.edu 37 6 38905858 38905858 + Missense_Mutation SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 38905858 38905858 T C SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.11021 p.I3674T 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 73 0 0 82 6 6.81818 KCNK16 0 genome.wustl.edu 37 6 39284171 39284171 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 39284171 39284171 C A SNP KCNK16 ENST00000373229 human ensembl 74_37 -1 known missense c.709 p.A237S 0.680 pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK16 HGNC ENSG00000095981 35 0 0 16 7 30.4348 OARD1 0 genome.wustl.edu 37 6 41039279 41039279 + RNA SNP T T G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 41039279 41039279 T G SNP OARD1 ENST00000467234 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors OARD1 HGNC ENSG00000124596 78 0 0 46 9 16.3636 TREM2 0 genome.wustl.edu 37 6 41126729 41126729 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 41126729 41126729 C T SNP TREM2 ENST00000373122 human ensembl 74_37 -1 known missense c.598 p.D200N 0.901 NULL pfam_Ig_V-set - no_errors TREM2 HGNC ENSG00000095970 69 0 0 47 5 9.61538 PRPH2 0 genome.wustl.edu 37 6 42689828 42689828 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 42689828 42689828 C T SNP PRPH2 ENST00000230381 human ensembl 74_37 -1 known missense c.245 p.C82Y 1.000 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors PRPH2 HGNC ENSG00000112619 156 0 0 77 6 7.22892 GLTSCR1L 0 genome.wustl.edu 37 6 42797574 42797574 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 42797574 42797574 G C SNP GLTSCR1L ENST00000314073 human ensembl 74_37 +1 known missense c.1503 p.L501F 1.000 NULL NULL - no_errors GLTSCR1L HGNC ENSG00000112624 182 0 0 88 9 9.27835 CUL9 0 genome.wustl.edu 37 6 43173834 43173834 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 43173834 43173834 G A SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.4883 p.R1628H 1.000 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 107 0 0 51 6 10.5263 TTBK1 0 genome.wustl.edu 37 6 43223579 43223579 + Silent SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 43223579 43223579 C G SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known silent c.846 p.T282 1.000 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 TTBK1 HGNC ENSG00000146216 163 0 0 80 12 13.0435 HMGCLL1 0 genome.wustl.edu 37 6 55364066 55364066 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 55364066 55364066 C T SNP HMGCLL1 ENST00000398661 human ensembl 74_37 -1 known missense c.664 p.E222K 1.000 pfam_PYR_CT,pfscan_PYR_CT pfam_PYR_CT,pfscan_PYR_CT - no_errors HMGCLL1 HGNC ENSG00000146151 134 0 0 76 8 9.52381 C6orf57 0 genome.wustl.edu 37 6 71298420 71298420 + Missense_Mutation SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 71298420 71298420 A G SNP C6orf57 ENST00000370474 human ensembl 74_37 +1 known missense c.320 p.D107G 1.000 pfam_DUF1674 pfam_DUF1674 - no_errors C6orf57 HGNC ENSG00000154079 87 0 0 69 7 9.21053 SH3BGRL2 0 genome.wustl.edu 37 6 80383441 80383441 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 80383441 80383441 C A SNP SH3BGRL2 ENST00000369838 human ensembl 74_37 +1 known missense c.156 p.N52K 0.881 pfam_Glut_rich_SH3-bd,pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold pfam_Glut_rich_SH3-bd,pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold - no_errors SH3BGRL2 HGNC ENSG00000198478 245 0 0 111 13 10.4839 ELOVL4 0 genome.wustl.edu 37 6 80629160 80629160 + Nonsense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 80629160 80629160 G A SNP ELOVL4 ENST00000369816 human ensembl 74_37 -1 known nonsense c.646 p.R216* 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL4 HGNC ENSG00000118402 98 0 0 63 5 7.35294 DOPEY1 0 genome.wustl.edu 37 6 83863234 83863234 + Missense_Mutation SNP T T G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 83863234 83863234 T G SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.6134 p.L2045W 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 104 0 0 86 8 8.51064 ZAN 0 genome.wustl.edu 37 7 100355885 100355885 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 100355885 100355885 C T SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.3370 p.R1124W 0.000 smart_VWC_out 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 50 0 0 37 5 11.9048 SERPINE1 0 genome.wustl.edu 37 7 100771774 100771774 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 100771774 100771774 C G SNP SERPINE1 ENST00000223095 human ensembl 74_37 +1 known missense c.100 p.L34V 0.102 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE1 HGNC ENSG00000106366 109 0 0 49 15 23.4375 PLOD3 0 genome.wustl.edu 37 7 100859523 100859523 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 100859523 100859523 C T SNP PLOD3 ENST00000223127 human ensembl 74_37 -1 known silent c.423 p.E141 0.999 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 91 0 0 33 10 23.2558 CYP2W1 0 genome.wustl.edu 37 7 1028043 1028043 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 1028043 1028043 C T SNP CYP2W1 ENST00000308919 human ensembl 74_37 +1 known missense c.1274 p.P425L 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2W1 HGNC ENSG00000073067 82 0 0 27 3 10 LAMB1 0 genome.wustl.edu 37 7 107572669 107572669 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 107572669 107572669 C A SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known missense c.4342 p.D1448Y 1.000 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 242 0 0 150 25 14.2857 THAP5 0 genome.wustl.edu 37 7 108204790 108204790 + Missense_Mutation SNP T T G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 108204790 108204790 T G SNP THAP5 ENST00000415914 human ensembl 74_37 -1 known missense c.1033 p.I345L 1.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP5 HGNC ENSG00000177683 118 0 0 96 7 6.79612 GPR146 0 genome.wustl.edu 37 7 1097511 1097511 + Silent SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 1097511 1097511 C A SNP GPR146 ENST00000297468 human ensembl 74_37 +1 known silent c.360 p.T120 0.396 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR146 HGNC ENSG00000164849 139 0 0 75 8 9.63855 GPER1 0 genome.wustl.edu 37 7 1132016 1132016 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 1132016 1132016 G C SNP GPER1 ENST00000297469 human ensembl 74_37 +1 known missense c.652 p.E218Q 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPER1 HGNC ENSG00000164850 43 0 0 8 10 55.5556 SCIN 0 genome.wustl.edu 37 7 12680057 12680057 + Nonsense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 12680057 12680057 C G SNP SCIN ENST00000297029 human ensembl 74_37 +1 known nonsense c.1496 p.S499* 1.000 NULL pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors SCIN HGNC ENSG00000006747 68 0 0 44 4 8.33333 PAX4 0 genome.wustl.edu 37 7 127255565 127255565 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 127255565 127255565 G T SNP PAX4 ENST00000341640 human ensembl 74_37 -1 known missense c.10 p.L4I 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX4 HGNC ENSG00000106331 202 0 0 87 7 7.44681 LRRC4 0 genome.wustl.edu 37 7 127670273 127670273 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 127670273 127670273 C T SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.421 p.G141R 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 177 0 0 100 11 9.90991 EXOC4 0 genome.wustl.edu 37 7 133502289 133502289 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 133502289 133502289 C A SNP EXOC4 ENST00000253861 human ensembl 74_37 +1 known missense c.1726 p.L576I 1.000 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 52 0 0 36 2 5.26316 PDIA4 0 genome.wustl.edu 37 7 148703126 148703126 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 148703126 148703126 G A SNP PDIA4 ENST00000286091 human ensembl 74_37 -1 known missense c.1151 p.A384V 1.000 pirsf_Protein_diS-isomerase_A4,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA4 HGNC ENSG00000155660 78 0 0 38 3 7.31707 KMT2C 0 genome.wustl.edu 37 7 151875009 151875009 + Missense_Mutation SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 151875009 151875009 A G SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.7529 p.V2510A 0.986 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 179 0 0 93 10 9.70874 KMT2C 0 genome.wustl.edu 37 7 151945673 151945673 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 151945673 151945673 C T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.1846 p.E616K 0.998 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 48 0 0 43 8 15.6863 SOSTDC1 0 genome.wustl.edu 37 7 16502239 16502239 + Silent SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 16502239 16502239 G T SNP SOSTDC1 ENST00000307068 human ensembl 74_37 -1 known silent c.555 p.A185 0.998 pfam_Sclerostin/SOSTDC1 pfam_Sclerostin/SOSTDC1,pfam_Cys_knot,pfam_DAN,pfscan_Cys_knot_C - no_errors SOSTDC1 HGNC ENSG00000171243 207 1 0.480769 126 47 27.1676 TAX1BP1 0 genome.wustl.edu 37 7 27825103 27825103 + Missense_Mutation SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 27825103 27825103 T C SNP TAX1BP1 ENST00000396319 human ensembl 74_37 +1 known missense c.847 p.Y283H 1.000 pfam_CoCoA pfam_CoCoA - no_errors TAX1BP1 HGNC ENSG00000106052 163 0 0 89 14 13.5922 NOD1 0 genome.wustl.edu 37 7 30490931 30490931 + Missense_Mutation SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 30490931 30490931 T C SNP NOD1 ENST00000222823 human ensembl 74_37 -1 known missense c.2102 p.H701R 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 208 0 0 79 8 9.1954 AMPH 0 genome.wustl.edu 37 7 38534085 38534085 + Missense_Mutation SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 38534085 38534085 T A SNP AMPH ENST00000356264 human ensembl 74_37 -1 known missense c.248 p.E83V 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 175 0 0 121 18 12.9496 AUTS2 0 genome.wustl.edu 37 7 69364275 69364275 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 69364275 69364275 G T SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.313 p.D105Y 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 108 0 0 60 9 13.0435 WBSCR17 0 genome.wustl.edu 37 7 70800582 70800582 + Silent SNP T T G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 70800582 70800582 T G SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known silent c.285 p.G95 0.999 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 103 0 0 41 16 28.0702 HGF 0 genome.wustl.edu 37 7 81381461 81381461 + Silent SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 81381461 81381461 G T SNP HGF ENST00000222390 human ensembl 74_37 -1 known silent c.600 p.V200 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 93 0 0 70 5 6.66667 CROT 0 genome.wustl.edu 37 7 87006686 87006686 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 87006686 87006686 G A SNP CROT ENST00000331536 human ensembl 74_37 +1 known missense c.898 p.G300R 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 38 0 0 45 4 8.16327 NXPH1 0 genome.wustl.edu 37 7 8790784 8790784 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 8790784 8790784 G C SNP NXPH1 ENST00000405863 human ensembl 74_37 +1 known missense c.201 p.E67D 0.995 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH1 HGNC ENSG00000122584 93 0 0 60 6 9.09091 ZKSCAN5 0 genome.wustl.edu 37 7 99123675 99123675 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 7 99123675 99123675 C G SNP ZKSCAN5 ENST00000326775 human ensembl 74_37 +1 known missense c.1012 p.Q338E 0.987 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ENSG00000196652 123 0 0 57 14 19.7183 VPS13B 0 genome.wustl.edu 37 8 100026063 100026063 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 100026063 100026063 G C SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.47 p.R16P 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 242 0 0 183 11 5.6701 PABPC1 0 genome.wustl.edu 37 8 101725403 101725403 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 101725403 101725403 G A SNP PABPC1 ENST00000318607 human ensembl 74_37 -1 known missense c.650 p.A217V 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,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 PABPC1 HGNC ENSG00000070756 38 0 0 29 3 9.375 RP1L1 0 genome.wustl.edu 37 8 10467124 10467124 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 10467124 10467124 G C SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.4484 p.P1495R 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 131 0 0 56 14 20 RIMS2 0 genome.wustl.edu 37 8 104930682 104930682 + Missense_Mutation SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 104930682 104930682 A T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.2050 p.I684L 1.000 superfamily_PDZ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 51 0 0 37 6 13.9535 ABRA 0 genome.wustl.edu 37 8 107781917 107781917 + Missense_Mutation SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 107781917 107781917 A G SNP ABRA ENST00000311955 human ensembl 74_37 -1 known missense c.502 p.S168P 0.953 NULL NULL - no_errors ABRA HGNC ENSG00000174429 328 0 0 187 20 9.66184 PKHD1L1 0 genome.wustl.edu 37 8 110437393 110437393 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 110437393 110437393 G A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.2777 p.R926K 1.000 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 48 0 0 31 3 8.82353 PKHD1L1 0 genome.wustl.edu 37 8 110509186 110509186 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 110509186 110509186 G T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.10366 p.A3456S 1.000 superfamily_Pectin_lyase_fold/virulence pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 116 1 0.854701 97 10 9.34579 CSMD3 0 genome.wustl.edu 37 8 113259259 113259259 + Silent SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 113259259 113259259 A T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.10212 p.P3404 0.959 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 69 0 0 57 5 8.06452 CSMD3 0 genome.wustl.edu 37 8 113871387 113871387 + Missense_Mutation SNP A A C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 113871387 113871387 A C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.1742 p.V581G 0.988 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 95 0 0 73 6 7.59494 CTSB 0 genome.wustl.edu 37 8 11710974 11710974 + RNA SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 11710974 11710974 G A SNP CTSB ENST00000525076 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTSB HGNC ENSG00000164733 106 0 0 44 9 16.9811 SLC30A8 0 genome.wustl.edu 37 8 118175718 118175718 + Missense_Mutation SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 118175718 118175718 T A SNP SLC30A8 ENST00000456015 human ensembl 74_37 +1 known missense c.778 p.L260M 0.996 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A8 HGNC ENSG00000164756 144 0 0 107 6 5.30973 FER1L6 0 genome.wustl.edu 37 8 125029939 125029939 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 125029939 125029939 C T SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known missense c.1994 p.T665M 0.979 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 123 0 0 79 9 10.2273 KCNQ3 0 genome.wustl.edu 37 8 133141890 133141890 + Silent SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 133141890 133141890 C G SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known silent c.2238 p.T746 0.765 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 63 0 0 28 3 9.67742 CPSF1 0 genome.wustl.edu 37 8 145622563 145622563 + Silent SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 145622563 145622563 G C SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known silent c.2451 p.V817 0.991 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 12 0 0 3 2 40 PPP2R2A 0 genome.wustl.edu 37 8 26227693 26227693 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 26227693 26227693 G C SNP PPP2R2A ENST00000380737 human ensembl 74_37 +1 known missense c.1108 p.D370H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2A HGNC ENSG00000221914 85 0 0 52 4 7.14286 ADRA1A 0 genome.wustl.edu 37 8 26628134 26628134 + Silent SNP T T G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 26628134 26628134 T G SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known silent c.933 p.V311 0.899 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_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 200 0 0 83 11 11.7021 GPR124 0 genome.wustl.edu 37 8 37686799 37686799 + Missense_Mutation SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 37686799 37686799 T C SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known missense c.431 p.I144T 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 133 0 0 58 4 6.45161 PRKDC 0 genome.wustl.edu 37 8 48852143 48852143 + Missense_Mutation SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 48852143 48852143 T C SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.1081 p.I361V 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 179 0 0 80 8 9.09091 ASPH 0 genome.wustl.edu 37 8 62479816 62479816 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 62479816 62479816 G A SNP ASPH ENST00000379454 human ensembl 74_37 -1 known missense c.1211 p.T404I 1.000 pfscan_TPR-contain_dom pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 129 0 0 75 8 9.63855 ADHFE1 0 genome.wustl.edu 37 8 67356836 67356836 + Missense_Mutation SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 67356836 67356836 A G SNP ADHFE1 ENST00000396623 human ensembl 74_37 +1 known missense c.206 p.K69R 1.000 pfam_ADH_Fe pfam_ADH_Fe - no_errors ADHFE1 HGNC ENSG00000147576 228 0 0 141 38 21.2291 ADHFE1 0 genome.wustl.edu 37 8 67361172 67361172 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 67361172 67361172 G A SNP ADHFE1 ENST00000396623 human ensembl 74_37 +1 known missense c.701 p.R234Q 0.886 pfam_ADH_Fe pfam_ADH_Fe - no_errors ADHFE1 HGNC ENSG00000147576 343 0 0 161 33 17.0103 E2F5 0 genome.wustl.edu 37 8 86126103 86126103 + RNA SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 86126103 86126103 A G SNP E2F5 ENST00000519128 human ensembl 74_37 +1 known rna NULL NULL 0.589 - - - no_errors E2F5 HGNC ENSG00000133740 68 0 0 45 3 6.25 PDP1 0 genome.wustl.edu 37 8 94934857 94934857 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 94934857 94934857 C T SNP PDP1 ENST00000396200 human ensembl 74_37 +1 known silent c.645 p.L215 1.000 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PDP1 HGNC ENSG00000164951 125 0 0 92 6 6.12245 KIAA1429 0 genome.wustl.edu 37 8 95522055 95522055 + Missense_Mutation SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 95522055 95522055 T C SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known missense c.3740 p.N1247S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 63 0 0 58 4 6.45161 GRIN3A 0 genome.wustl.edu 37 9 104335715 104335715 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 104335715 104335715 C G SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.3089 p.S1030T 0.924 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 200 0 0 131 7 5.07246 FKTN 0 genome.wustl.edu 37 9 108337325 108337325 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 108337325 108337325 C G SNP FKTN ENST00000223528 human ensembl 74_37 +1 known missense c.12 p.I4M 1.000 NULL pfam_LicD,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom - no_errors FKTN HGNC ENSG00000106692 130 0 0 84 7 7.69231 TMEM38B 0 genome.wustl.edu 37 9 108484874 108484874 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 108484874 108484874 G C SNP TMEM38B ENST00000374692 human ensembl 74_37 +1 known missense c.514 p.E172Q 1.000 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38B HGNC ENSG00000095209 160 0 0 110 9 7.56303 LPAR1 0 genome.wustl.edu 37 9 113703796 113703796 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 113703796 113703796 C T SNP LPAR1 ENST00000538760 human ensembl 74_37 -1 known missense c.701 p.R234H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_GPCR_Rhodpsn - no_errors LPAR1 HGNC ENSG00000198121 122 0 0 81 19 19 ZNF883 0 genome.wustl.edu 37 9 115759828 115759828 + RNA SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 115759828 115759828 C G SNP ZNF883 ENST00000427548 human ensembl 74_37 -1 known rna NULL NULL 0.210 - - - no_errors ZNF883 HGNC ENSG00000228623 91 0 0 62 6 8.82353 DFNB31 0 genome.wustl.edu 37 9 117266496 117266496 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 117266496 117266496 G C SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known missense c.586 p.L196V 0.931 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 188 0 0 111 6 5.12821 OR1L1 0 genome.wustl.edu 37 9 125423975 125423975 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 125423975 125423975 C G SNP OR1L1 ENST00000373686 human ensembl 74_37 +1 known missense c.131 p.S44C 0.002 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L1 HGNC ENSG00000173679 116 0 0 72 10 12.1951 RABGAP1 0 genome.wustl.edu 37 9 125863928 125863928 + Silent SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 125863928 125863928 T A SNP RABGAP1 ENST00000373647 human ensembl 74_37 +1 known silent c.2973 p.V991 0.002 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 106 0 0 45 7 13.4615 SPTAN1 0 genome.wustl.edu 37 9 131394978 131394978 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 131394978 131394978 G A SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known missense c.7141 p.D2381N 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 142 0 0 65 7 9.72222 DOLK 0 genome.wustl.edu 37 9 131708695 131708695 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 131708695 131708695 G A SNP DOLK ENST00000372586 human ensembl 74_37 -1 known silent c.888 p.T296 0.751 NULL NULL - no_errors DOLK HGNC ENSG00000175283 358 0 0 135 13 8.78378 BRD3 0 genome.wustl.edu 37 9 136910450 136910450 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 136910450 136910450 C A SNP BRD3 ENST00000303407 human ensembl 74_37 -1 known missense c.1180 p.D394Y 0.997 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 189 0 0 89 16 15.2381 FREM1 0 genome.wustl.edu 37 9 14859323 14859323 + Nonsense_Mutation SNP A A C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 14859323 14859323 A C SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known nonsense c.489 p.Y163* 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 256 0 0 141 11 7.23684 KIAA1045 0 genome.wustl.edu 37 9 34972446 34972446 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 34972446 34972446 G A SNP KIAA1045 ENST00000242315 human ensembl 74_37 +1 known missense c.482 p.R161H 1.000 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD - no_errors KIAA1045 HGNC ENSG00000122733 225 0 0 107 11 9.32203 PIGO 0 genome.wustl.edu 37 9 35090633 35090633 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 35090633 35090633 C A SNP PIGO ENST00000341666 human ensembl 74_37 -1 known missense c.2684 p.W895L 1.000 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 134 0 0 69 13 15.8537 CD72 0 genome.wustl.edu 37 9 35612891 35612891 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 35612891 35612891 G T SNP CD72 ENST00000259633 human ensembl 74_37 -1 known missense c.788 p.T263N 0.678 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD72 HGNC ENSG00000137101 263 0 0 158 15 8.67052 TLN1 0 genome.wustl.edu 37 9 35704345 35704345 + Missense_Mutation SNP T T A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 35704345 35704345 T A SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.6031 p.T2011S 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 307 0 0 137 19 12.1795 GNE 0 genome.wustl.edu 37 9 36217424 36217424 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 36217424 36217424 C T SNP GNE ENST00000396594 human ensembl 74_37 -1 known missense c.2200 p.D734N 1.000 NULL pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase - no_errors GNE HGNC ENSG00000159921 71 0 0 37 3 7.5 INSL6 0 genome.wustl.edu 37 9 5164104 5164104 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 5164104 5164104 G T SNP INSL6 ENST00000381641 human ensembl 74_37 -1 known missense c.451 p.R151S 0.197 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,pirsf_Insulin-like_pep_6 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,pirsf_Insulin-like_pep_6 - no_errors INSL6 HGNC ENSG00000120210 63 0 0 66 6 8.33333 KANK1 0 genome.wustl.edu 37 9 712605 712605 + Silent SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 712605 712605 C T SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known silent c.1839 p.L613 0.007 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 134 0 0 74 11 12.9412 SHC3 0 genome.wustl.edu 37 9 91628480 91628480 + Missense_Mutation SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 91628480 91628480 T C SNP SHC3 ENST00000375835 human ensembl 74_37 -1 known missense c.1667 p.K556R 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC3 HGNC ENSG00000148082 177 0 0 86 8 8.51064 AUH 0 genome.wustl.edu 37 9 93983218 93983218 + Missense_Mutation SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 93983218 93983218 A G SNP AUH ENST00000375731 human ensembl 74_37 -1 known missense c.712 p.F238L 1.000 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam - no_errors AUH HGNC ENSG00000148090 186 0 0 98 9 8.41121 ECM2 0 genome.wustl.edu 37 9 95258657 95258657 + Nonsense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 95258657 95258657 G C SNP ECM2 ENST00000344604 human ensembl 74_37 -1 known nonsense c.2040 p.Y680* 0.981 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C - no_errors ECM2 HGNC ENSG00000106823 137 0 0 92 8 8 FAM120A 0 genome.wustl.edu 37 9 96312912 96312912 + Missense_Mutation SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 96312912 96312912 C G SNP FAM120A ENST00000333936 human ensembl 74_37 +1 known missense c.2297 p.A766G 1.000 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 104 0 0 54 9 14.2857 KIR2DL2 0 genome.wustl.edu 37 GL000209.1 30743 30743 + Missense_Mutation SNP A A G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd GL000209.1 30743 30743 A G SNP KIR2DL2 ENST00000344867 human ensembl 74_37 +1 known missense c.677 p.N226S NULL NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL2 HGNC ENSG00000215764 201 0 0 118 20 14.4928 OR13H1 0 genome.wustl.edu 37 X 130678949 130678949 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd X 130678949 130678949 G T SNP OR13H1 ENST00000338616 human ensembl 74_37 +1 known missense c.902 p.R301M 0.025 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13H1 HGNC ENSG00000171054 66 0 0 47 6 11.3208 IL3RA 0 genome.wustl.edu 37 X 1460718 1460718 + Missense_Mutation SNP G G C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd X 1460718 1460718 G C SNP IL3RA ENST00000331035 human ensembl 74_37 +1 known missense c.60 p.K20N 0.001 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL3RA HGNC ENSG00000185291 352 0 0 123 14 10.219 NSDHL 0 genome.wustl.edu 37 X 152014936 152014936 + Missense_Mutation SNP C C A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd X 152014936 152014936 C A SNP NSDHL ENST00000370274 human ensembl 74_37 +1 known missense c.68 p.P23H 0.001 NULL pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA - no_errors NSDHL HGNC ENSG00000147383 103 0 0 31 23 42.5926 HCFC1 0 genome.wustl.edu 37 X 153220024 153220024 + Missense_Mutation SNP C C T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd X 153220024 153220024 C T SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.3826 p.E1276K 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 103 0 0 59 12 16.9014 GK 0 genome.wustl.edu 37 X 30686201 30686201 + Silent SNP T T G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd X 30686201 30686201 T G SNP GK ENST00000378943 human ensembl 74_37 +1 known silent c.225 p.L75 1.000 pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK HGNC ENSG00000198814 51 0 0 27 7 20.5882 USP9X 0 genome.wustl.edu 37 X 41088543 41088543 + Missense_Mutation SNP G G T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd X 41088543 41088543 G T SNP USP9X ENST00000324545 human ensembl 74_37 +1 known missense c.7099 p.D2367Y 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 26 0 0 8 2 20 NYX 0 genome.wustl.edu 37 X 41333460 41333460 + Missense_Mutation SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd X 41333460 41333460 G A SNP NYX ENST00000342595 human ensembl 74_37 +1 known missense c.754 p.G252S 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors NYX HGNC ENSG00000188937 14 0 0 9 3 25 AKAP4 0 genome.wustl.edu 37 X 49957536 49957536 + Missense_Mutation SNP A A T TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd X 49957536 49957536 A T SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known missense c.1828 p.S610T 0.606 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 107 0 0 81 10 10.989 DGKK 0 genome.wustl.edu 37 X 50146111 50146111 + RNA SNP C C G TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd X 50146111 50146111 C G SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DGKK HGNC ENSG00000204466 29 0 0 16 4 20 ERCC6L 0 genome.wustl.edu 37 X 71425290 71425290 + Silent SNP G G A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd X 71425290 71425290 G A SNP ERCC6L ENST00000334463 human ensembl 74_37 -1 known silent c.3327 p.D1109 0.992 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 132 0 0 53 24 31.1688 ATP7A 0 genome.wustl.edu 37 X 77267114 77267114 + Silent SNP T T C TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd X 77267114 77267114 T C SNP ATP7A ENST00000341514 human ensembl 74_37 +1 known silent c.2115 p.I705 1.000 NULL pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 221 0 0 134 21 13.5484 PYHIN1 0 genome.wustl.edu 37 1 158908216 158908234 + Frame_Shift_Del DEL AAAGGAATAATCCCATCTA AAAGGAATAATCCCATCTA - TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 AAAGGAATAATCCCATCTA AAAGGAATAATCCCATCTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 158908216 158908234 AAAGGAATAATCCCATCTA - DEL PYHIN1 ENST00000368140 human ensembl 74_37 +1 known frame_shift_del c.295_313 p.G100fs 0.008:0.007:0.008:0.009:0.002:0.002:0.000:0.000:0.005:0.005:0.001:0.001:0.003:0.004:0.001:0.000:0.000:0.000:0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 135 0 0 113 7 5.83333 PARP1 0 genome.wustl.edu 37 1 226555962 226555962 + Frame_Shift_Del DEL G G - TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 226555962 226555962 G - DEL PARP1 ENST00000366794 human ensembl 74_37 -1 known frame_shift_del c.2215 p.L739fs 0.994 pfam_Poly(ADP-ribose)pol_reg_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,pirsf_NAD_ADPRT,pfscan_Poly(ADP-ribose)pol_reg_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 202 0 0 70 10 12.5 ELTD1 0 genome.wustl.edu 37 1 79383697 79383697 + Frame_Shift_Del DEL G G - TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 1 79383697 79383697 G - DEL ELTD1 ENST00000370742 human ensembl 74_37 -1 known frame_shift_del c.1500 p.L502fs 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 226 0 0 107 14 11.5702 TRIM44 0 genome.wustl.edu 37 11 35828032 35828035 + RNA DEL AACA AACA - TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 AACA AACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 11 35828032 35828035 AACA - DEL TRIM44 ENST00000532066 human ensembl 74_37 +1 known rna NULL NULL 0.829:0.801:0.062:0.005 - - - no_errors TRIM44 HGNC ENSG00000166326 56 0 0 40 5 11.1111 BEST3 0 genome.wustl.edu 37 12 70049350 70049350 + Frame_Shift_Del DEL G G - TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 12 70049350 70049350 G - DEL BEST3 ENST00000330891 human ensembl 74_37 -1 known frame_shift_del c.1344 p.T449fs 0.000 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 136 0 0 74 7 8.64198 BRCA2 0 genome.wustl.edu 37 13 32911752 32911752 + Frame_Shift_Del DEL C C - TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 13 32911752 32911752 C - DEL BRCA2 ENST00000380152 human ensembl 74_37 +1 known frame_shift_del c.3260 p.P1088fs 0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 154 0 0 90 11 10.8911 FBXL3 0 genome.wustl.edu 37 13 77581361 77581386 + Frame_Shift_Del DEL CTTTTGGTCAGGAATTAGTACTTCTT CTTTTGGTCAGGAATTAGTACTTCTT - TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 CTTTTGGTCAGGAATTAGTACTTCTT CTTTTGGTCAGGAATTAGTACTTCTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 13 77581361 77581386 CTTTTGGTCAGGAATTAGTACTTCTT - DEL FBXL3 ENST00000355619 human ensembl 74_37 -1 known frame_shift_del c.1206_1181 p.E394fs 0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.950:0.955:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom - no_errors FBXL3 HGNC ENSG00000005812 192 0 0 97 9 8.49057 ESRRB 0 genome.wustl.edu 37 14 76905762 76905762 + Frame_Shift_Del DEL C C - TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 14 76905762 76905762 C - DEL ESRRB ENST00000380887 human ensembl 74_37 +1 known frame_shift_del c.66 p.P23fs 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESRRB HGNC ENSG00000119715 163 0 0 87 6 6.45161 GCNT3 0 genome.wustl.edu 37 15 59911709 59911711 + In_Frame_Del DEL AGA AGA - TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 15 59911709 59911711 AGA - DEL GCNT3 ENST00000396065 human ensembl 74_37 +1 known in_frame_del c.1272_1274 p.E426in_frame_del 0.975:1.000:1.000 NULL pfam_Glyco_trans_14 - no_errors GCNT3 HGNC ENSG00000140297 302 0 0 171 10 5.52486 HMG20A 0 genome.wustl.edu 37 15 77771634 77771636 + In_Frame_Del DEL GTT GTT - TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 15 77771634 77771636 GTT - DEL HMG20A ENST00000336216 human ensembl 74_37 +1 known in_frame_del c.1021_1023 p.V342in_frame_del 1.000:1.000:1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMG20A HGNC ENSG00000140382 127 0 0 86 13 13.1313 LRRC36 0 genome.wustl.edu 37 16 67404994 67405013 + Frame_Shift_Del DEL GGACACTGCTGTTGTCTCCT GGACACTGCTGTTGTCTCCT - TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 GGACACTGCTGTTGTCTCCT GGACACTGCTGTTGTCTCCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 67404994 67405013 GGACACTGCTGTTGTCTCCT - DEL LRRC36 ENST00000329956 human ensembl 74_37 +1 known frame_shift_del c.1343_1362 p.T449fs 0.327:0.338:0.755:0.803:0.827:0.951:0.990:0.990:0.988:0.995:0.995:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL NULL - no_errors LRRC36 HGNC ENSG00000159708 201 0 0 146 8 5.19481 MBTPS1 0 genome.wustl.edu 37 16 84096981 84097005 + Frame_Shift_Del DEL GGAATCTGATAAAGTCCCAAAATGG GGAATCTGATAAAGTCCCAAAATGG - TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 GGAATCTGATAAAGTCCCAAAATGG GGAATCTGATAAAGTCCCAAAATGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 16 84096981 84097005 GGAATCTGATAAAGTCCCAAAATGG - DEL MBTPS1 ENST00000343411 human ensembl 74_37 -1 known frame_shift_del c.2501_2477 p.P826fs 0.999:1.000:0.977:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.975:1.000:1.000:1.000:1.000:0.999:0.997:1.000:1.000:1.000:1.000 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 172 0 0 82 6 6.81818 PVRL2 0 genome.wustl.edu 37 19 45381749 45381751 + In_Frame_Del DEL GAG GAG - TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 45381749 45381751 GAG - DEL PVRL2 ENST00000252485 human ensembl 74_37 +1 known in_frame_del c.1312_1314 p.E441in_frame_del 0.686:0.659:0.301 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL2 HGNC ENSG00000130202 48 0 0 23 3 11.5385 MYO1F 0 genome.wustl.edu 37 19 8592285 8592285 + Frame_Shift_Del DEL C C - TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 19 8592285 8592285 C - DEL MYO1F ENST00000338257 human ensembl 74_37 -1 known frame_shift_del c.2411 p.G804fs 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 90 0 0 27 5 15.625 ATP13A3 0 genome.wustl.edu 37 3 194147849 194147850 + Frame_Shift_Ins INS - - A TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 3 194147849 194147850 - A INS ATP13A3 ENST00000256031 human ensembl 74_37 -1 known frame_shift_ins c.3080_3079 p.W1027fs 1.000:1.000 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,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 ATP13A3 HGNC ENSG00000133657 122 1 0.813008 78 18 18.75 SYCP2L 0 genome.wustl.edu 37 6 10898264 10898266 + In_Frame_Del DEL AAC AAC - TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 10898264 10898266 AAC - DEL SYCP2L ENST00000283141 human ensembl 74_37 +1 known in_frame_del c.357_359 p.T121in_frame_del 0.055:0.047:0.014 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 99 0 0 89 8 8.24742 DCBLD1 0 genome.wustl.edu 37 6 117861962 117861962 + Frame_Shift_Del DEL T T - TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 6 117861962 117861962 T - DEL DCBLD1 ENST00000338728 human ensembl 74_37 +1 known frame_shift_del c.1233 p.C412fs 0.919 superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_LCCL,pfam_CUB_dom,superfamily_Galactose-bd-like,superfamily_LCCL,superfamily_CUB_dom,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD1 HGNC ENSG00000164465 230 0 0 89 28 23.9316 CTSB 0 genome.wustl.edu 37 8 11703288 11703288 + Frame_Shift_Del DEL T T - TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 8 11703288 11703288 T - DEL CTSB ENST00000345125 human ensembl 74_37 -1 known frame_shift_del c.804 p.Q268fs 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Propeptide_C1A,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSB HGNC ENSG00000164733 137 0 0 63 8 11.2676 FAM120A 0 genome.wustl.edu 37 9 96326712 96326729 + In_Frame_Del DEL AATGACTCTAAAACGTGC AATGACTCTAAAACGTGC - TCGA-CD-8529-01A-11D-2340-08 TCGA-CD-8529-10A-01D-2341-08 AATGACTCTAAAACGTGC AATGACTCTAAAACGTGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 931b24da-5d6d-4c2d-8de9-ef32d6eb8565 5faa05c2-24b8-4af2-8552-4d60486c0bcd 9 96326712 96326729 AATGACTCTAAAACGTGC - DEL FAM120A ENST00000333936 human ensembl 74_37 +1 known in_frame_del c.3331_3348 p.DSKTCN1112in_frame_del 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 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 263 0 0 107 6 5.30973