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 ABCB5 0 genome.wustl.edu 37 7 20766663 20766663 + Missense_Mutation SNP A A G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 7 20766663 20766663 A G SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known missense c.1291 p.I431V 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 tier1 - - 43 0 0.00 27 14 34.15 ABHD14B 0 genome.wustl.edu 37 3 52003994 52003994 + Missense_Mutation SNP C C G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 52003994 52003994 C G SNP ABHD14B ENST00000361143 human ensembl 74_37 -1 known missense c.418 p.D140H 1.000 NULL NULL - no_errors ABHD14B HGNC ENSG00000114779 tier1 - - 55 0 0.00 15 23 60.53 ACPL2 0 genome.wustl.edu 37 3 141006278 141006278 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 141006278 141006278 G A SNP ACPL2 ENST00000286353 human ensembl 74_37 +1 known missense c.488 p.G163E 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPL2 HGNC ENSG00000155893 tier1 - - 36 0 0.00 37 8 17.78 ADAM12 0 genome.wustl.edu 37 10 127708373 127708373 + Missense_Mutation SNP G G C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 10 127708373 127708373 G C SNP ADAM12 ENST00000368679 human ensembl 74_37 -1 known missense c.2560 p.P854A 1.000 NULL 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_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM12 HGNC ENSG00000148848 tier1 - - 102 0 0.00 79 21 21.00 ADAM23 0 genome.wustl.edu 37 2 207406859 207406859 + Splice_Site SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 2 207406859 207406859 G T SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known splice_site c.656+1 e5+1 1.000 - - - no_errors ADAM23 HGNC ENSG00000114948 tier1 - - 59 0 0.00 23 63 73.26 ADAM29 0 genome.wustl.edu 37 4 175897785 175897785 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 4 175897785 175897785 G T SNP ADAM29 ENST00000359240 human ensembl 74_37 +1 known missense c.1109 p.S370I 0.528 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 ADAM29 HGNC ENSG00000168594 tier1 - - 39 0 0.00 54 8 12.90 AMY2B 0 genome.wustl.edu 37 1 104114305 104114305 + Silent SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 104114305 104114305 T C SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known silent c.81 p.S27 1.000 superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 tier1 - - 164 0 0.00 75 77 50.66 ANKK1 0 genome.wustl.edu 37 11 113270738 113270738 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 11 113270738 113270738 G A SNP ANKK1 ENST00000303941 human ensembl 74_37 +1 known missense c.2047 p.A683T 0.409 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors ANKK1 HGNC ENSG00000170209 tier1 - - 57 0 0.00 64 14 17.72 ANKRD30B 0 genome.wustl.edu 37 18 14850253 14850253 + Missense_Mutation SNP G G C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 18 14850253 14850253 G C SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.3079 p.D1027H 0.900 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 tier1 - - 36 0 0.00 22 35 60.34 ANKRD36BP2 0 genome.wustl.edu 37 2 89100923 89100924 + RNA INS - - G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 2 89100923 89100924 0 G INS ANKRD36BP2 ENST00000393525 human ensembl 74_37 +1 known rna NULL NULL 0.049:0.030 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 21 0 0.00 34 7 17.07 ARHGAP5 0 genome.wustl.edu 37 14 32561296 32561296 + Missense_Mutation SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 14 32561296 32561296 T C SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.1421 p.V474A 1.000 superfamily_FF_domain,smart_FF_domain 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 tier1 rs200111638 - 93 0 0.00 149 16 9.70 ARHGEF18 0 genome.wustl.edu 37 19 7506809 7506809 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 19 7506809 7506809 G A SNP ARHGEF18 ENST00000359920 human ensembl 74_37 +1 known missense c.667 p.A223T 0.998 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 tier1 - - 39 0 0.00 35 4 10.26 ARHGEF2 0 genome.wustl.edu 37 1 155928115 155928115 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 155928115 155928115 G T SNP ARHGEF2 ENST00000368315 human ensembl 74_37 -1 known missense c.1544 p.T515N 0.151 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 tier1 - - 70 0 0.00 62 4 6.06 ASB2 0 genome.wustl.edu 37 14 94413850 94413850 + Silent SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 14 94413850 94413850 C A SNP ASB2 ENST00000315988 human ensembl 74_37 -1 known silent c.753 p.T251 0.379 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB2 HGNC ENSG00000100628 tier1 - - 71 0 0.00 68 4 5.56 ASCC3 0 genome.wustl.edu 37 6 101099510 101099510 + Missense_Mutation SNP G G C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 6 101099510 101099510 G C SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.3001 p.L1001V 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 tier1 - - 157 0 0.00 135 38 21.97 ASPG 0 genome.wustl.edu 37 14 104573571 104573571 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 14 104573571 104573571 C T SNP ASPG ENST00000455920 human ensembl 74_37 +1 known missense c.1322 p.A441V 0.839 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_AsnASEI - no_errors ASPG HGNC ENSG00000166183 tier1 - - 99 0 0.00 72 4 5.26 ATAD2 0 genome.wustl.edu 37 8 124358392 124358392 + Silent SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 8 124358392 124358392 T C SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known silent c.2466 p.V822 0.463 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 tier1 - - 70 0 0.00 54 38 41.30 ATP2B2 0 genome.wustl.edu 37 3 10442741 10442741 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 10442741 10442741 C T SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.677 p.G226D 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 tier1 - - 73 0 0.00 69 20 22.47 ATP4B 0 genome.wustl.edu 37 13 114307313 114307313 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 13 114307313 114307313 C T SNP ATP4B ENST00000335288 human ensembl 74_37 -1 known missense c.430 p.A144T 0.944 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP4B HGNC ENSG00000186009 29 0 0.00 21 2 8.70 B3GAT2 0 genome.wustl.edu 37 6 71666093 71666093 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 6 71666093 71666093 G A SNP B3GAT2 ENST00000230053 human ensembl 74_37 -1 known missense c.40 p.P14S 1.000 NULL pfam_Glyco_trans_43 - no_errors B3GAT2 HGNC ENSG00000112309 tier1 - - 87 0 0.00 48 29 37.18 B4GALT3 0 genome.wustl.edu 37 1 161143503 161143503 + Missense_Mutation SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 161143503 161143503 T C SNP B4GALT3 ENST00000319769 human ensembl 74_37 -1 known missense c.695 p.Q232R 1.000 pfam_Galactosyl_T_C,prints_Galactosyl_T pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT3 HGNC ENSG00000158850 tier1 - - 118 0 0.00 79 31 28.18 BACH1 0 genome.wustl.edu 37 21 30693632 30693632 + Missense_Mutation SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 21 30693632 30693632 T C SNP BACH1 ENST00000286800 human ensembl 74_37 +1 known missense c.31 p.Y11H 1.000 superfamily_BTB/POZ_fold pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC ENSG00000156273 tier1 - - 38 0 0.00 24 9 27.27 BCL7A 0 genome.wustl.edu 37 12 122473259 122473259 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 122473259 122473259 G T SNP BCL7A ENST00000538010 human ensembl 74_37 +1 known missense c.197 p.G66V 1.000 NULL pfam_BCL7 - no_errors BCL7A HGNC ENSG00000110987 tier1 - - 71 0 0.00 65 4 5.80 BMP6 0 genome.wustl.edu 37 6 7880462 7880462 + Silent SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 6 7880462 7880462 G A SNP BMP6 ENST00000283147 human ensembl 74_37 +1 known silent c.1428 p.P476 0.942 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 tier1 - - 72 0 0.00 54 4 6.90 BMX 0 genome.wustl.edu 37 X 15525518 15525518 + RNA SNP T T A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 X 15525518 15525518 T A SNP BMX ENST00000463891 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BMX HGNC ENSG00000102010 tier1 - - 28 0 0.00 9 21 70.00 BRAT1 0 genome.wustl.edu 37 7 2581386 2581386 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 7 2581386 2581386 C T SNP BRAT1 ENST00000340611 human ensembl 74_37 -1 known missense c.1100 p.R367H 0.323 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 58 0 0.00 38 4 9.52 BUB1B 0 genome.wustl.edu 37 15 40509785 40509785 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 15 40509785 40509785 G T SNP BUB1B ENST00000412359 human ensembl 74_37 +1 known missense c.2809 p.D937Y 0.074 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 tier1 - - 84 0 0.00 52 14 21.21 C14orf166 0 genome.wustl.edu 37 14 52466445 52466445 + Silent SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 14 52466445 52466445 G A SNP C14orf166 ENST00000261700 human ensembl 74_37 +1 known silent c.393 p.K131 1.000 pfam_UPF0568 pfam_UPF0568 - no_errors C14orf166 HGNC ENSG00000087302 tier1 - - 49 0 0.00 32 21 39.62 C16orf62 0 genome.wustl.edu 37 16 19590313 19590313 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 16 19590313 19590313 C T SNP C16orf62 ENST00000448695 human ensembl 74_37 +1 known missense c.7 p.P3S 0.000 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 tier1 - - 36 0 0.00 27 17 38.64 C2orf68 0 genome.wustl.edu 37 2 85839075 85839075 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 2 85839075 85839075 G T SNP C2orf68 ENST00000306336 human ensembl 74_37 -1 known missense c.33 p.H11Q 0.491 pfam_UPF0561 pfam_UPF0561 - no_errors C2orf68 HGNC ENSG00000168887 tier1 - - 14 0 0.00 9 6 40.00 C9orf91 0 genome.wustl.edu 37 9 117386549 117386549 + RNA SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 9 117386549 117386549 G A SNP C9orf91 ENST00000471206 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors C9orf91 HGNC ENSG00000157693 tier1 - - 15 0 0.00 9 15 62.50 CBFA2T2 0 genome.wustl.edu 37 20 32212784 32212784 + Missense_Mutation SNP C C G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 20 32212784 32212784 C G SNP CBFA2T2 ENST00000346541 human ensembl 74_37 +1 known missense c.934 p.L312V 0.692 prints_MTGR1 pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1 - no_errors CBFA2T2 HGNC ENSG00000078699 tier1 - - 76 0 0.00 108 6 5.26 CCDC102B 0 genome.wustl.edu 37 18 66504325 66504325 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 18 66504325 66504325 G T SNP CCDC102B ENST00000319445 human ensembl 74_37 +1 known missense c.325 p.V109F 1.000 NULL NULL - no_errors CCDC102B HGNC ENSG00000150636 tier1 - - 65 0 0.00 24 50 67.57 CCDC148 0 genome.wustl.edu 37 2 159028672 159028672 + Nonsense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 2 159028672 159028672 G A SNP CCDC148 ENST00000283233 human ensembl 74_37 -1 known nonsense c.1729 p.Q577* 0.984 NULL NULL - no_errors CCDC148 HGNC ENSG00000153237 tier1 - - 38 0 0.00 34 15 30.61 CCDC27 0 genome.wustl.edu 37 1 3680269 3680269 + Splice_Site SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 3680269 3680269 G T SNP CCDC27 ENST00000294600 human ensembl 74_37 +1 known splice_site c.1322-1 e8-1 0.958 - - - no_errors CCDC27 HGNC ENSG00000162592 55 0 0.00 25 2 7.41 CCDC80 0 genome.wustl.edu 37 3 112358594 112358594 + Silent SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 112358594 112358594 C T SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known silent c.159 p.R53 1.000 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 tier1 - - 79 0 0.00 92 5 5.15 CD1B 0 genome.wustl.edu 37 1 158299306 158299306 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 158299306 158299306 C T SNP CD1B ENST00000368168 human ensembl 74_37 -1 known missense c.740 p.G247D 0.029 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1B HGNC ENSG00000158485 tier1 - - 93 0 0.00 83 30 26.55 CDH12 0 genome.wustl.edu 37 5 21760720 21760720 + Missense_Mutation SNP C C G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 5 21760720 21760720 C G SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.1580 p.R527T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 86 0 0.00 109 7 6.03 CEP290 0 genome.wustl.edu 37 12 88478393 88478393 + Missense_Mutation SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 88478393 88478393 C A SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.4680 p.K1560N 0.966 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 tier1 - - 81 0 0.00 84 19 18.45 CES1 0 genome.wustl.edu 37 16 55866958 55866958 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 16 55866958 55866958 G A SNP CES1 ENST00000360526 human ensembl 74_37 -1 known missense c.10 p.R4C 0.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 tier1 - - 258 0 0.00 242 47 16.26 CHAT 0 genome.wustl.edu 37 10 50835782 50835782 + Silent SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 10 50835782 50835782 G A SNP CHAT ENST00000337653 human ensembl 74_37 +1 known silent c.1062 p.T354 0.736 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 46 0 0.00 14 2 12.50 CHD9 0 genome.wustl.edu 37 16 53279712 53279712 + Missense_Mutation SNP A A G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 16 53279712 53279712 A G SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.3404 p.N1135S 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 tier1 - - 114 0 0.00 69 38 35.51 CNOT1 0 genome.wustl.edu 37 16 58577401 58577401 + Missense_Mutation SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 16 58577401 58577401 T C SNP CNOT1 ENST00000441024 human ensembl 74_37 -1 known missense c.4544 p.N1515S 0.000 NULL superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 tier1 - - 90 0 0.00 57 40 41.24 CNTN1 0 genome.wustl.edu 37 12 41408076 41408076 + Silent SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 41408076 41408076 C T SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known silent c.2160 p.N720 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 68 0 0.00 67 4 5.63 CNTNAP2 0 genome.wustl.edu 37 7 147092722 147092722 + Missense_Mutation SNP A A C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 7 147092722 147092722 A C SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.1520 p.N507T 0.972 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 tier1 - - 61 0 0.00 80 26 24.53 COCH 0 genome.wustl.edu 37 14 31348140 31348140 + Missense_Mutation SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 14 31348140 31348140 C A SNP COCH ENST00000216361 human ensembl 74_37 +1 known missense c.363 p.F121L 1.000 pfam_LCCL,superfamily_LCCL,pfscan_LCCL pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors COCH HGNC ENSG00000100473 tier1 - - 48 0 0.00 33 25 43.10 COL24A1 0 genome.wustl.edu 37 1 86512550 86512550 + Silent SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 86512550 86512550 G T SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known silent c.1908 p.G636 0.692 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 75 0 0.00 90 5 5.26 COL9A2 0 genome.wustl.edu 37 1 40782797 40782797 + Missense_Mutation SNP T T A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 40782797 40782797 T A SNP COL9A2 ENST00000372748 human ensembl 74_37 -1 known missense c.73 p.I25F 1.000 NULL pfam_Collagen - no_errors COL9A2 HGNC ENSG00000049089 tier1 - - 71 0 0.00 51 110 68.32 CRIM1 0 genome.wustl.edu 37 2 36691738 36691738 + Missense_Mutation SNP A A C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 2 36691738 36691738 A C SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known missense c.931 p.I311L 1.000 NULL pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 tier1 - - 101 0 0.00 112 30 21.13 CSF1R 0 genome.wustl.edu 37 5 149459676 149459676 + Silent SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 5 149459676 149459676 G A SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known silent c.531 p.C177 0.232 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,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 - no_errors CSF1R HGNC ENSG00000182578 26 0 0.00 48 4 7.69 CSMD3 0 genome.wustl.edu 37 8 113563014 113563014 + Nonsense_Mutation SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 8 113563014 113563014 C A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known nonsense c.4450 p.E1484* 1.000 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 tier1 - - 76 0 0.00 84 38 30.89 CSN2 0 genome.wustl.edu 37 4 70823225 70823225 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 4 70823225 70823225 G T SNP CSN2 ENST00000353151 human ensembl 74_37 -1 known missense c.442 p.P148T 0.084 pfam_Casein,pirsf_Casein_beta pfam_Casein,pirsf_Casein_beta - no_errors CSN2 HGNC ENSG00000135222 tier1 - - 67 0 0.00 52 19 26.76 CX3CR1 0 genome.wustl.edu 37 3 39307268 39307268 + Missense_Mutation SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 39307268 39307268 T C SNP CX3CR1 ENST00000358309 human ensembl 74_37 -1 known missense c.829 p.T277A 0.997 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_Chemokine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CX3CR1 HGNC ENSG00000168329 tier1 - - 44 0 0.00 14 20 58.82 CYP1A1 0 genome.wustl.edu 37 15 75014841 75014841 + Missense_Mutation SNP C C G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 15 75014841 75014841 C G SNP CYP1A1 ENST00000379727 human ensembl 74_37 -1 known missense c.598 p.A200P 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A1 HGNC ENSG00000140465 tier1 - - 78 0 0.00 34 17 32.69 CYP1B1 0 genome.wustl.edu 37 2 38297742 38297742 + RNA SNP T T A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 2 38297742 38297742 T A SNP CYP1B1 ENST00000494864 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CYP1B1 HGNC ENSG00000138061 tier1 - - 8 0 0.00 2 6 75.00 CYP4F35P 0 genome.wustl.edu 37 18 14337526 14337526 + RNA SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 18 14337526 14337526 C A SNP CYP4F35P ENST00000582957 human ensembl 74_37 +1 known rna NULL NULL 0.090 - - - no_errors CYP4F35P HGNC ENSG00000265787 tier1 - - 38 0 0.00 12 16 57.14 DHRS2 0 genome.wustl.edu 37 14 24114459 24114459 + Missense_Mutation SNP C C G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 14 24114459 24114459 C G SNP DHRS2 ENST00000344777 human ensembl 74_37 +1 known missense c.851 p.S284C 0.676 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect - no_errors DHRS2 HGNC ENSG00000100867 tier1 rs144980250 - 35 0 0.00 32 20 38.46 DHX9 0 genome.wustl.edu 37 1 182850531 182850531 + Silent SNP A A G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 182850531 182850531 A G SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known silent c.2757 p.L919 0.968 pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 tier1 - - 43 0 0.00 42 18 30.00 DIDO1 0 genome.wustl.edu 37 20 61513761 61513761 + Missense_Mutation SNP C C G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 20 61513761 61513761 C G SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.3547 p.E1183Q 1.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 tier1 - - 66 0 0.00 43 33 43.42 DNAH5 0 genome.wustl.edu 37 5 13719067 13719067 + Silent SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 5 13719067 13719067 T C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.12423 p.T4141 0.555 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,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 32 0 0.00 67 17 20.24 DNAH5 0 genome.wustl.edu 37 5 13719141 13719141 + Missense_Mutation SNP T T A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 5 13719141 13719141 T A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.12349 p.I4117L 0.003 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,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 24 0 0.00 39 16 29.09 DPPA3P2 0 genome.wustl.edu 37 14 36840759 36840759 + RNA SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 14 36840759 36840759 C T SNP DPPA3P2 ENST00000557188 human ensembl 74_37 +1 known rna NULL NULL 0.066 - - - no_errors DPPA3P2 HGNC ENSG00000188831 tier1 - - 122 0 0.00 105 35 25.00 DYRK4 0 genome.wustl.edu 37 12 4705422 4705422 + Silent SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 4705422 4705422 G A SNP DYRK4 ENST00000010132 human ensembl 74_37 +1 known silent c.390 p.V130 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 DYRK4 HGNC ENSG00000010219 tier1 - - 48 0 0.00 9 10 52.63 EDN2 0 genome.wustl.edu 37 1 41945149 41945149 + Frame_Shift_Del DEL G G - TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 41945149 41945149 G 0 DEL EDN2 ENST00000372587 human ensembl 74_37 -1 known frame_shift_del c.468 p.F157fs 0.001 NULL pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN2 HGNC ENSG00000127129 81 0 0.00 129 12 8.51 EEF2 0 genome.wustl.edu 37 19 3982015 3982015 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 19 3982015 3982015 G A SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known missense c.827 p.S276L 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase 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 tier1 - - 83 0 0.00 61 18 22.78 EGR1 0 genome.wustl.edu 37 5 137803304 137803304 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 5 137803304 137803304 C T SNP EGR1 ENST00000239938 human ensembl 74_37 +1 known missense c.1166 p.T389I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 52 0 0.00 36 2 5.26 ELMSAN1 0 genome.wustl.edu 37 14 74196531 74196531 + Missense_Mutation SNP G G C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 14 74196531 74196531 G C SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known missense c.1907 p.S636C 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 tier1 - - 51 0 0.00 45 26 36.62 EML3 0 genome.wustl.edu 37 11 62379057 62379057 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 11 62379057 62379057 C T SNP EML3 ENST00000529309 human ensembl 74_37 -1 known missense c.34 p.A12T 0.995 NULL pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 tier1 - - 72 0 0.00 48 4 7.69 EML6 0 genome.wustl.edu 37 2 55074758 55074758 + Silent SNP C C G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 2 55074758 55074758 C G SNP EML6 ENST00000356458 human ensembl 74_37 +1 novel silent c.1185 p.V395 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 tier1 - - 72 0 0.00 33 36 52.17 ENSG00000189275 0 genome.wustl.edu 37 10 133608085 133608085 + Missense_Mutation SNP G G C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 10 133608085 133608085 G C SNP ENSG00000189275 ENST00000341866 human ensembl 74_37 -1 known missense c.291 p.I97M 0.000 NULL NULL - no_errors AL450307.1 Clone_based_ensembl_gene ENSG00000189275 tier1 - - 48 0 0.00 32 8 20.00 ENSG00000203849 0 genome.wustl.edu 37 1 142714797 142714797 + RNA SNP A A G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 142714797 142714797 A G SNP ENSG00000203849 ENST00000610091 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 tier1 - - 20 0 0.00 20 6 23.08 ENSG00000221550 0 genome.wustl.edu 37 1 29580122 29580122 + RNA SNP A A G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 29580122 29580122 A G SNP ENSG00000221550 ENST00000408623 human ensembl 74_37 -1 novel rna NULL NULL 0.096 - - - no_errors AL645859.1 Clone_based_ensembl_gene ENSG00000221550 tier1 - - 48 0 0.00 18 11 37.93 ENSG00000221756 0 genome.wustl.edu 37 13 27894248 27894248 + RNA SNP T T A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 13 27894248 27894248 T A SNP ENSG00000221756 ENST00000408829 human ensembl 74_37 +1 novel rna NULL NULL 0.124 - - - no_errors AL159977.1 Clone_based_ensembl_gene ENSG00000221756 tier1 - - 84 0 0.00 33 36 52.17 ENSG00000235077 0 genome.wustl.edu 37 7 99737930 99737930 + RNA SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 7 99737930 99737930 G T SNP ENSG00000235077 ENST00000376482 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC073842.19 Clone_based_vega_gene ENSG00000235077 tier1 - - 45 0 0.00 29 17 36.96 ENSG00000235615 0 genome.wustl.edu 37 2 132724261 132724261 + RNA SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 2 132724261 132724261 C T SNP ENSG00000235615 ENST00000419362 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AJ239322.1 Clone_based_vega_gene ENSG00000235615 tier1 - - 38 0 0.00 73 5 6.41 ENSG00000235994 0 genome.wustl.edu 37 6 168377135 168377136 + RNA INS - - G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 6 168377135 168377136 - G INS ENSG00000235994 ENST00000538528 human ensembl 74_37 -1 known rna NULL NULL 0.990:0.992 - - - no_errors RP3-470B24.5 Clone_based_vega_gene ENSG00000235994 tier1 159 0 0.00 66 5 7.04 ENSG00000235994 0 genome.wustl.edu 37 6 168377136 168377137 + RNA INS - - GTG TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 6 168377136 168377137 - GTG INS ENSG00000235994 ENST00000538528 human ensembl 74_37 -1 known rna NULL NULL 0.992:0.996 - - - no_errors RP3-470B24.5 Clone_based_vega_gene ENSG00000235994 tier1 157 0 0.00 66 5 7.04 ENSG00000235994 0 genome.wustl.edu 37 6 168377161 168377161 + RNA SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 6 168377161 168377161 T C SNP ENSG00000235994 ENST00000538528 human ensembl 74_37 -1 known rna NULL NULL 0.306 - - - no_errors RP3-470B24.5 Clone_based_vega_gene ENSG00000235994 tier1 rs113533593 - 136 0 0.00 55 6 9.84 ENSG00000244306 0 genome.wustl.edu 37 14 19856372 19856372 + RNA SNP A A G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 14 19856372 19856372 A G SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 21 0 0.00 29 3 9.38 ENSG00000257671 0 genome.wustl.edu 37 12 52639132 52639132 + RNA SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 52639132 52639132 C T SNP ENSG00000257671 ENST00000546686 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors RP3-416H24.1 Clone_based_vega_gene ENSG00000257671 tier1 - - 54 0 0.00 67 4 5.63 ENSG00000259326 0 genome.wustl.edu 37 15 38795603 38795603 + RNA SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 15 38795603 38795603 C A SNP ENSG00000259326 ENST00000560231 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-102L12.2 Clone_based_vega_gene ENSG00000259326 tier1 - - 48 0 0.00 41 8 16.33 ENSG00000259583 0 genome.wustl.edu 37 15 101454857 101454857 + RNA SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 15 101454857 101454857 G T SNP ENSG00000259583 ENST00000560068 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-66B24.4 Clone_based_vega_gene ENSG00000259583 tier1 - - 35 0 0.00 27 4 12.90 ENSG00000259966 0 genome.wustl.edu 37 16 32611670 32611670 + RNA SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 16 32611670 32611670 C A SNP ENSG00000259966 ENST00000562976 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 tier1 - - 82 0 0.00 88 24 21.43 EPHA2 0 genome.wustl.edu 37 1 16456798 16456798 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 16456798 16456798 G T SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known missense c.2592 p.F864L 0.637 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 tier1 - - 87 0 0.00 48 7 12.73 EPS8 0 genome.wustl.edu 37 12 15777165 15777165 + Missense_Mutation SNP G G C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 15777165 15777165 G C SNP EPS8 ENST00000281172 human ensembl 74_37 -1 known missense c.2221 p.P741A 1.000 superfamily_SAM/pointed pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8 HGNC ENSG00000151491 tier1 - - 69 0 0.00 33 24 42.11 ERCC5 0 genome.wustl.edu 37 13 103524642 103524642 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 13 103524642 103524642 C T SNP ERCC5 ENST00000355739 human ensembl 74_37 +1 known missense c.2773 p.P925S 0.940 superfamily_5-3_exonuclease_C,tigrfam_XPG/Rad2_eukaryotes pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2_eukaryotes,prints_XPG/Rad2,tigrfam_XPG/Rad2_eukaryotes - no_errors ERCC5 HGNC ENSG00000134899 tier1 - - 65 0 0.00 36 41 53.25 ESPN 0 genome.wustl.edu 37 1 6521428 6521428 + RNA SNP T T G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 6521428 6521428 T G SNP ESPN ENST00000468561 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ESPN HGNC ENSG00000187017 tier1 - - 24 0 0.00 12 4 25.00 FAIM 0 genome.wustl.edu 37 3 138341108 138341108 + Missense_Mutation SNP A A G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 138341108 138341108 A G SNP FAIM ENST00000338446 human ensembl 74_37 +1 known missense c.292 p.T98A 1.000 pfam_FAIM pfam_FAIM - no_errors FAIM HGNC ENSG00000158234 tier1 - - 134 0 0.00 132 88 39.82 FAM102A 0 genome.wustl.edu 37 9 130742450 130742450 + RNA SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 9 130742450 130742450 G A SNP FAM102A ENST00000494606 human ensembl 74_37 -1 known rna NULL NULL 0.950 - - - no_errors FAM102A HGNC ENSG00000167106 tier1 - - 54 0 0.00 14 29 67.44 FAM105A 0 genome.wustl.edu 37 5 14610525 14610525 + RNA SNP T T A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 5 14610525 14610525 T A SNP FAM105A ENST00000506258 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors FAM105A HGNC ENSG00000145569 tier1 - - 25 0 0.00 32 11 25.58 FAM129B 0 genome.wustl.edu 37 9 130286098 130286098 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 9 130286098 130286098 G A SNP FAM129B ENST00000373312 human ensembl 74_37 -1 known missense c.449 p.P150L 1.000 pfscan_Pleckstrin_homology pfscan_Pleckstrin_homology - no_errors FAM129B HGNC ENSG00000136830 tier1 - - 39 0 0.00 9 11 55.00 FAM179B 0 genome.wustl.edu 37 14 45542728 45542728 + Missense_Mutation SNP G G C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 14 45542728 45542728 G C SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known missense c.5127 p.E1709D 0.992 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 tier1 - - 37 0 0.00 43 24 35.82 FAM19A5 0 genome.wustl.edu 37 22 49103579 49103579 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 22 49103579 49103579 G T SNP FAM19A5 ENST00000358295 human ensembl 74_37 +1 known missense c.292 p.G98W 1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A5 HGNC ENSG00000219438 67 0 0.00 47 4 7.84 FAM43B 0 genome.wustl.edu 37 1 20879570 20879570 + Missense_Mutation SNP G G C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 20879570 20879570 G C SNP FAM43B ENST00000332947 human ensembl 74_37 +1 known missense c.104 p.S35T 1.000 NULL smart_PTB/PI_dom - no_errors FAM43B HGNC ENSG00000183114 tier1 - - 44 0 0.00 15 10 40.00 FAM83G 0 genome.wustl.edu 37 17 18874831 18874831 + Silent SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 17 18874831 18874831 G A SNP FAM83G ENST00000345041 human ensembl 74_37 -1 known silent c.2313 p.T771 0.135 NULL pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 tier1 - - 119 0 0.00 48 80 62.50 FBLN2 0 genome.wustl.edu 37 3 13670421 13670421 + Silent SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 13670421 13670421 G A SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known silent c.2586 p.T862 0.002 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 tier1 - - 73 0 0.00 51 29 36.25 FCAMR 0 genome.wustl.edu 37 1 207139152 207139152 + Missense_Mutation SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 207139152 207139152 T C SNP FCAMR ENST00000400962 human ensembl 74_37 -1 known missense c.221 p.E74G 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCAMR HGNC ENSG00000162897 tier1 - - 108 0 0.00 32 66 67.35 FIG4 0 genome.wustl.edu 37 6 110112640 110112640 + Frame_Shift_Del DEL C C - TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 6 110112640 110112640 C - DEL FIG4 ENST00000230124 human ensembl 74_37 +1 known frame_shift_del c.2242 p.S750fs 0.999 NULL pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 tier1 53 0 0.00 37 2 5.13 FN1 0 genome.wustl.edu 37 2 216269251 216269251 + Silent SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 2 216269251 216269251 C T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.3114 p.Q1038 0.988 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 88 0 0.00 75 4 5.06 FOXE1 0 genome.wustl.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 GCCGCC GCCGCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 9 100616701 100616706 GCCGCC 0 DEL FOXE1 ENST00000375123 human ensembl 74_37 +1 known in_frame_del c.505_510 p.AA172in_frame_del 0.602:0.620:0.614:0.750:0.779:0.753 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXE1 HGNC ENSG00000178919 9 0 0.00 7 3 30.00 FOXG1 0 genome.wustl.edu 37 14 29237879 29237879 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 14 29237879 29237879 C T SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.1394 p.T465M 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 tier1 - - 83 0 0.00 100 10 9.01 FRAT1 0 genome.wustl.edu 37 10 99079857 99079857 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 10 99079857 99079857 C T SNP FRAT1 ENST00000371021 human ensembl 74_37 +1 known missense c.647 p.A216V 0.989 pfam_GSK3-bd pfam_GSK3-bd - no_errors FRAT1 HGNC ENSG00000165879 tier1 - - 58 0 0.00 54 12 17.91 FRMD1 0 genome.wustl.edu 37 6 168461507 168461507 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 6 168461507 168461507 C T SNP FRMD1 ENST00000283309 human ensembl 74_37 -1 known missense c.1276 p.E426K 0.001 NULL pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD1 HGNC ENSG00000153303 tier1 - - 63 0 0.00 49 29 37.18 FXR1 0 genome.wustl.edu 37 3 180666281 180666281 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 180666281 180666281 G T SNP FXR1 ENST00000357559 human ensembl 74_37 +1 known missense c.417 p.E139D 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC ENSG00000114416 23 0 0.00 37 2 5.13 GAS6 0 genome.wustl.edu 37 13 114541138 114541138 + Missense_Mutation SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 13 114541138 114541138 C A SNP GAS6 ENST00000357389 human ensembl 74_37 -1 known missense c.493 p.G165W 0.999 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 tier1 - - 115 0 0.00 46 54 54.00 GAS7 0 genome.wustl.edu 37 17 9846480 9846480 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 17 9846480 9846480 C T SNP GAS7 ENST00000432992 human ensembl 74_37 -1 known missense c.689 p.G230D 1.000 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom - no_errors GAS7 HGNC ENSG00000007237 tier1 - - 58 0 0.00 48 4 7.69 GBP1P1 0 genome.wustl.edu 37 1 89886764 89886764 + RNA SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 89886764 89886764 C T SNP GBP1P1 ENST00000513638 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GBP1P1 HGNC ENSG00000225492 tier1 - - 129 0 0.00 112 26 18.71 GCN1L1 0 genome.wustl.edu 37 12 120586115 120586115 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 120586115 120586115 C T SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.4582 p.A1528T 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 tier1 - - 62 0 0.00 59 4 6.35 GHRHR 0 genome.wustl.edu 37 7 31003737 31003737 + Silent SNP G G C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 7 31003737 31003737 G C SNP GHRHR ENST00000326139 human ensembl 74_37 +1 known silent c.54 p.P18 0.000 prints_GPCR_2_GHRH_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GHRH_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt_1 - no_errors GHRHR HGNC ENSG00000106128 tier1 - - 145 0 0.00 105 45 30.00 GPS1 0 genome.wustl.edu 37 17 80013949 80013949 + Nonsense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 17 80013949 80013949 C T SNP GPS1 ENST00000355130 human ensembl 74_37 +1 known nonsense c.1027 p.Q343* 1.000 pfam_26S_proteasome_reg_su-Rpn7 pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC ENSG00000169727 tier1 - - 51 0 0.00 45 4 8.16 GRIA2 0 genome.wustl.edu 37 4 158256846 158256846 + Missense_Mutation SNP G G C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 4 158256846 158256846 G C SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.1290 p.K430N 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 tier1 - - 63 0 0.00 59 39 39.80 GRIN2B 0 genome.wustl.edu 37 12 13761566 13761566 + Missense_Mutation SNP C C G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 13761566 13761566 C G SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.1981 p.D661H 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 GRIN2B HGNC ENSG00000273079 tier1 - - 91 0 0.00 41 47 53.41 HBG2 0 genome.wustl.edu 37 11 5275727 5275727 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 11 5275727 5275727 G T SNP HBG2 ENST00000336906 human ensembl 74_37 -1 known missense c.110 p.P37Q 1.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin - no_errors HBG2 HGNC ENSG00000196565 92 0 0.00 68 4 5.56 HERC2P3 0 genome.wustl.edu 37 15 20657659 20657659 + RNA SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 15 20657659 20657659 C A SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 tier1 - - 116 0 0.00 87 24 21.62 HERC4 0 genome.wustl.edu 37 10 69751986 69751986 + Missense_Mutation SNP G G C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 10 69751986 69751986 G C SNP HERC4 ENST00000395198 human ensembl 74_37 -1 known missense c.1241 p.P414R 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 tier1 - - 40 0 0.00 23 5 17.86 HIST1H2AH 0 genome.wustl.edu 37 6 27115271 27115271 + Missense_Mutation SNP G G C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 6 27115271 27115271 G C SNP HIST1H2AH ENST00000377459 human ensembl 74_37 +1 known missense c.364 p.E122Q 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AH HGNC ENSG00000184825 tier1 - - 103 0 0.00 62 39 38.61 HIST1H3C 0 genome.wustl.edu 37 6 26045940 26045940 + Missense_Mutation SNP T T A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 6 26045940 26045940 T A SNP HIST1H3C ENST00000540144 human ensembl 74_37 +1 known missense c.302 p.L101Q 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3C HGNC ENSG00000196532 tier1 - - 129 0 0.00 56 34 37.78 HMGN2 0 genome.wustl.edu 37 1 26800609 26800609 + Frame_Shift_Del DEL A A - TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 26800609 26800609 A - DEL HMGN2 ENST00000361427 human ensembl 74_37 +1 known frame_shift_del c.124 p.K43fs 1.000 pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN2 HGNC ENSG00000198830 tier1 45 0 0.00 45 4 8.16 HRCT1 0 genome.wustl.edu 37 9 35906584 35906586 + In_Frame_Del DEL CCA CCA - TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 9 35906584 35906586 CCA - DEL HRCT1 ENST00000354323 human ensembl 74_37 +1 known in_frame_del c.300_302 p.H104in_frame_del 0.016:0.009:0.003 NULL NULL - no_errors HRCT1 HGNC ENSG00000196196 tier1 22 0 0.00 17 6 26.09 HS6ST1 0 genome.wustl.edu 37 2 129025972 129025972 + Missense_Mutation SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 2 129025972 129025972 T C SNP HS6ST1 ENST00000259241 human ensembl 74_37 -1 known missense c.1000 p.I334V 1.000 pfam_Sulfotransferase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST1 HGNC ENSG00000136720 tier1 - - 77 0 0.00 73 41 35.96 HSP90AB2P 0 genome.wustl.edu 37 4 13335101 13335108 + RNA DEL AAACAACA AAACAACA - TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 AAACAACA AAACAACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 4 13335101 13335108 AAACAACA 0 DEL HSP90AB2P ENST00000602906 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.002:0.007:0.003:0.000:0.000:0.000:0.000 - - - no_errors HSP90AB2P HGNC ENSG00000205940 57 0 0.00 47 7 12.96 HSPA1A 0 genome.wustl.edu 37 6 31783686 31783686 + Silent SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 6 31783686 31783686 C T SNP HSPA1A ENST00000375651 human ensembl 74_37 +1 known silent c.153 p.I51 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1A HGNC ENSG00000204389 tier1 - - 34 0 0.00 9 17 65.38 ICAM4 0 genome.wustl.edu 37 19 10397718 10397719 + Frame_Shift_Ins INS - - T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 19 10397718 10397719 - T INS ICAM4 ENST00000340992 human ensembl 74_37 +1 known frame_shift_ins c.30_31 p.L12fs 0.002:0.004 NULL pfam_ICAM_N - no_errors ICAM4 HGNC ENSG00000105371 tier1 18 0 0.00 11 3 21.43 IGDCC4 0 genome.wustl.edu 37 15 65703488 65703488 + Silent SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 15 65703488 65703488 C T SNP IGDCC4 ENST00000352385 human ensembl 74_37 -1 novel silent c.291 p.Q97 0.326 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC4 HGNC ENSG00000103742 tier1 - - 78 0 0.00 60 4 6.25 IL1F10 0 genome.wustl.edu 37 2 113831923 113831923 + Missense_Mutation SNP A A G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 2 113831923 113831923 A G SNP IL1F10 ENST00000341010 human ensembl 74_37 +1 known missense c.50 p.Q17R 0.997 superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1,prints_IL-1_beta - no_errors IL1F10 HGNC ENSG00000136697 tier1 - - 48 0 0.00 31 18 36.73 ISOC2 0 genome.wustl.edu 37 19 55966407 55966407 + Silent SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 19 55966407 55966407 T C SNP ISOC2 ENST00000085068 human ensembl 74_37 -1 known silent c.534 p.E178 0.995 pfam_Isochorismatase-like,superfamily_Isochorismatase-like pfam_Isochorismatase-like,superfamily_Isochorismatase-like - no_errors ISOC2 HGNC ENSG00000063241 tier1 - - 152 0 0.00 85 57 40.14 KBTBD7 0 genome.wustl.edu 37 13 41767432 41767434 + In_Frame_Del DEL CTG CTG - TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 13 41767432 41767434 CTG - DEL KBTBD7 ENST00000379483 human ensembl 74_37 -1 known in_frame_del c.962_960 p.S324in_frame_del 0.559:0.829:0.997 pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD7 HGNC ENSG00000120696 tier1 32 0 0.00 19 3 13.64 KIAA1033 0 genome.wustl.edu 37 12 105551051 105551051 + Nonsense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 105551051 105551051 G T SNP KIAA1033 ENST00000332180 human ensembl 74_37 +1 known nonsense c.2863 p.E955* 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 tier1 - - 61 0 0.00 44 18 29.03 KIAA1468 0 genome.wustl.edu 37 18 59925833 59925833 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 18 59925833 59925833 C T SNP KIAA1468 ENST00000256858 human ensembl 74_37 +1 known missense c.2126 p.A709V 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 tier1 - - 61 0 0.00 21 43 67.19 KIAA1737 0 genome.wustl.edu 37 14 77572068 77572068 + Missense_Mutation SNP C C G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 14 77572068 77572068 C G SNP KIAA1737 ENST00000361786 human ensembl 74_37 +1 known missense c.17 p.P6R 0.073 NULL NULL - no_errors KIAA1737 HGNC ENSG00000198894 tier1 - - 58 0 0.00 37 15 28.85 KIF26B 0 genome.wustl.edu 37 1 245849500 245849500 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 245849500 245849500 G T SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.3215 p.S1072I 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 tier1 - - 14 0 0.00 9 13 59.09 KIR3DL1 0 genome.wustl.edu 37 19 55329985 55329985 + Silent SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 19 55329985 55329985 C A SNP KIR3DL1 ENST00000402254 human ensembl 74_37 +1 known silent c.286 p.R96 0.000 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 tier1 - - 61 0 0.00 56 15 21.13 KLC2 0 genome.wustl.edu 37 11 66032654 66032654 + Missense_Mutation SNP A A G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 11 66032654 66032654 A G SNP KLC2 ENST00000316924 human ensembl 74_37 +1 known missense c.1282 p.S428G 0.998 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KLC2 HGNC ENSG00000174996 64 0 0.00 72 4 5.26 KRT79 0 genome.wustl.edu 37 12 53223862 53223862 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 53223862 53223862 C T SNP KRT79 ENST00000330553 human ensembl 74_37 -1 known missense c.800 p.G267D 0.978 pfam_IF pfam_IF,superfamily_STAT_TF_coiled-coil,prints_Keratin_II - no_errors KRT79 HGNC ENSG00000185640 tier1 - - 64 0 0.00 76 4 5.00 KRTAP10-6 0 genome.wustl.edu 37 21 46011332 46011332 + Missense_Mutation SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 21 46011332 46011332 C A SNP KRTAP10-6 ENST00000400368 human ensembl 74_37 -1 known missense c.1034 p.C345F 1.000 NULL NULL - no_errors KRTAP10-6 HGNC ENSG00000188155 tier1 - - 75 0 0.00 56 44 43.56 KSR2 0 genome.wustl.edu 37 12 117977636 117977636 + Silent SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 117977636 117977636 C T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known silent c.1575 p.T525 0.850 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 tier1 - - 38 0 0.00 14 23 62.16 LINC00969 0 genome.wustl.edu 37 3 195456375 195456375 + RNA SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 195456375 195456375 C T SNP LINC00969 ENST00000594446 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors LINC00969 HGNC ENSG00000242086 tier1 rs3762740 - 9 0 0.00 3 4 57.14 LIPH 0 genome.wustl.edu 37 3 185245348 185245348 + Missense_Mutation SNP G G C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 185245348 185245348 G C SNP LIPH ENST00000296252 human ensembl 74_37 -1 known missense c.552 p.F184L 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC ENSG00000163898 tier1 - - 85 0 0.00 33 80 70.80 LMX1A 0 genome.wustl.edu 37 1 165322387 165322387 + Silent SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 165322387 165322387 G T SNP LMX1A ENST00000294816 human ensembl 74_37 -1 known silent c.189 p.A63 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1A HGNC ENSG00000162761 tier1 - - 67 0 0.00 65 5 7.14 LOC100128239 0 genome.wustl.edu 37 11 133902537 133902537 + RNA SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 11 133902537 133902537 G A SNP LOC100128239 ENST00000532706 human ensembl 74_37 +1 known rna NULL NULL 0.735 - - - no_errors RP11-713P17.3 Clone_based_vega_gene ENSG00000204241 tier1 - - 39 0 0.00 43 19 30.65 LOC100128239 0 genome.wustl.edu 37 11 133902538 133902538 + RNA SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 11 133902538 133902538 C A SNP LOC100128239 ENST00000532706 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors RP11-713P17.3 Clone_based_vega_gene ENSG00000204241 tier1 - - 39 0 0.00 43 19 30.65 LOC100506606 0 genome.wustl.edu 37 12 29460831 29460831 + RNA SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 29460831 29460831 C T SNP LOC100506606 ENST00000553105 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-996F15.2 Clone_based_vega_gene ENSG00000257176 tier1 - - 58 0 0.00 46 4 8.00 LOC100506606 0 genome.wustl.edu 37 12 29460854 29460854 + RNA SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 29460854 29460854 C T SNP LOC100506606 ENST00000553105 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-996F15.2 Clone_based_vega_gene ENSG00000257176 tier1 - - 43 0 0.00 33 4 10.81 LRBA 0 genome.wustl.edu 37 4 151357951 151357951 + Missense_Mutation SNP A A T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 4 151357951 151357951 A T SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.6879 p.D2293E 0.940 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 tier1 rs138518902 - 52 0 0.00 55 14 20.29 LRP6 0 genome.wustl.edu 37 12 12397568 12397568 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 12397568 12397568 G A SNP LRP6 ENST00000261349 human ensembl 74_37 -1 known missense c.77 p.A26V 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 tier1 - - 56 0 0.00 39 4 9.30 LRRC69 0 genome.wustl.edu 37 8 92145500 92145500 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 8 92145500 92145500 G T SNP LRRC69 ENST00000448384 human ensembl 74_37 +1 novel missense c.546 p.L182F 0.045 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC69 HGNC ENSG00000214954 tier1 - - 89 0 0.00 76 4 5.00 MAL 0 genome.wustl.edu 37 2 95691529 95691529 + RNA SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 2 95691529 95691529 C A SNP MAL ENST00000489399 human ensembl 74_37 +1 known rna NULL NULL 0.386 - - - no_errors MAL HGNC ENSG00000172005 tier1 - - 16 0 0.00 6 10 62.50 MAP3K8 0 genome.wustl.edu 37 10 30739243 30739243 + Silent SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 10 30739243 30739243 C T SNP MAP3K8 ENST00000263056 human ensembl 74_37 +1 known silent c.561 p.H187 0.972 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 MAP3K8 HGNC ENSG00000107968 tier1 - - 58 0 0.00 37 10 21.28 MDM2 0 genome.wustl.edu 37 12 69229656 69229656 + Silent SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 69229656 69229656 G A SNP MDM2 ENST00000462284 human ensembl 74_37 +1 known silent c.732 p.Q244 1.000 superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4 pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM2 HGNC ENSG00000135679 tier1 - - 63 0 0.00 54 10 15.62 MED13 0 genome.wustl.edu 37 17 60033165 60033165 + Missense_Mutation SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 17 60033165 60033165 C A SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.5658 p.Q1886H 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 tier1 - - 24 0 0.00 22 13 37.14 MIOS 0 genome.wustl.edu 37 7 7628156 7628156 + Missense_Mutation SNP A A G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 7 7628156 7628156 A G SNP MIOS ENST00000340080 human ensembl 74_37 +1 known missense c.1846 p.R616G 1.000 NULL smart_WD40_repeat - no_errors MIOS HGNC ENSG00000164654 tier1 - - 64 0 0.00 55 8 12.70 MIR744 0 genome.wustl.edu 37 17 11985275 11985275 + RNA SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 17 11985275 11985275 C T SNP MIR744 ENST00000578242 human ensembl 74_37 +1 known rna NULL NULL 0.960 - - - no_errors MIR744 HGNC ENSG00000266297 tier1 - - 51 0 0.00 31 29 48.33 MT-ND5 0 genome.wustl.edu 37 MT 13586 13586 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 MT 13586 13586 C T SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1250 p.S417F NULL tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 10 0 0.00 4 5 55.56 MT-ND6 0 genome.wustl.edu 37 MT 14162 14162 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 MT 14162 14162 G A SNP MT-ND6 ENST00000361681 human ensembl 74_37 -1 known missense c.512 p.A171V NULL pfam_NADH_UbQ/plastoQ_OxRdtase_su6 pfam_NADH_UbQ/plastoQ_OxRdtase_su6 - no_errors MT-ND6 HGNC ENSG00000198695 tier1 - - 33 0 0.00 19 11 36.67 MTMR14 0 genome.wustl.edu 37 3 9739484 9739484 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 9739484 9739484 G A SNP MTMR14 ENST00000296003 human ensembl 74_37 +1 known missense c.1703 p.R568Q 1.000 NULL NULL - no_errors MTMR14 HGNC ENSG00000163719 tier1 - - 50 0 0.00 28 14 33.33 MUC12 0 genome.wustl.edu 37 7 100616293 100616293 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 7 100616293 100616293 G A SNP MUC12 ENST00000379442 human ensembl 74_37 +1 novel missense c.256 p.V86M 0.001 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 rs202012524 - 28 0 0.00 43 8 15.69 MUC16 0 genome.wustl.edu 37 19 9045688 9045688 + Silent SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 19 9045688 9045688 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.35943 p.T11981 0.080 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 138 0 0.00 116 13 10.08 MUC16 0 genome.wustl.edu 37 19 9090317 9090317 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 19 9090317 9090317 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.1498 p.H500N 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 52 0 0.00 49 4 7.55 MUC6 0 genome.wustl.edu 37 11 1027330 1027330 + Silent SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 11 1027330 1027330 G A SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known silent c.2169 p.C723 0.991 NULL 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 79 0 0.00 75 4 5.06 MYLK 0 genome.wustl.edu 37 3 123452795 123452795 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 123452795 123452795 C T SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.1048 p.A350T 0.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 tier1 - - 44 0 0.00 41 33 44.59 MYO1F 0 genome.wustl.edu 37 19 8587613 8587613 + Silent SNP C C G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 19 8587613 8587613 C G SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known silent c.2955 p.P985 0.001 NULL 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 tier1 - - 52 0 0.00 50 21 29.58 MYO7A 0 genome.wustl.edu 37 11 76883843 76883843 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 11 76883843 76883843 G A SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.1847 p.R616Q 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 tier1 - - 46 0 0.00 55 14 20.29 MYO7B 0 genome.wustl.edu 37 2 128391782 128391782 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 2 128391782 128391782 G A SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.5468 p.R1823Q 0.993 smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 tier1 - - 61 0 0.00 57 41 41.84 NAA15 0 genome.wustl.edu 37 4 140282928 140282928 + Missense_Mutation SNP G G C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 4 140282928 140282928 G C SNP NAA15 ENST00000296543 human ensembl 74_37 +1 known missense c.1590 p.M530I 1.000 pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 tier1 - - 69 0 0.00 59 34 36.56 NBEAL2 0 genome.wustl.edu 37 3 47044496 47044496 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 47044496 47044496 C T SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.5509 p.R1837C 0.990 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 tier1 - - 26 0 0.00 12 3 20.00 NCOA7 0 genome.wustl.edu 37 6 126210540 126210540 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 6 126210540 126210540 G A SNP NCOA7 ENST00000368357 human ensembl 74_37 +1 known missense c.1340 p.R447Q 0.000 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 56 0 0.00 58 4 6.45 NCOR1 0 genome.wustl.edu 37 17 16024424 16024424 + Silent SNP A A T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 17 16024424 16024424 A T SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known silent c.1794 p.A598 0.999 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 tier1 - - 45 0 0.00 16 7 30.43 NFYB 0 genome.wustl.edu 37 12 104519955 104519955 + Silent SNP A A G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 104519955 104519955 A G SNP NFYB ENST00000240055 human ensembl 74_37 -1 known silent c.168 p.D56 0.999 superfamily_Histone-fold pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_NFYB/HAP3 - no_errors NFYB HGNC ENSG00000120837 tier1 - - 61 0 0.00 43 26 37.68 NOC2L 0 genome.wustl.edu 37 1 880079 880079 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 880079 880079 C T SNP NOC2L ENST00000327044 human ensembl 74_37 -1 known missense c.2245 p.D749N 0.996 NULL pfam_Noc2,superfamily_ARM-type_fold - no_errors NOC2L HGNC ENSG00000188976 tier1 - - 30 0 0.00 18 4 18.18 NOD1 0 genome.wustl.edu 37 7 30491759 30491759 + Missense_Mutation SNP A A C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 7 30491759 30491759 A C SNP NOD1 ENST00000222823 human ensembl 74_37 -1 known missense c.1274 p.F425C 1.000 pfscan_NACHT_NTPase 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 tier1 - - 47 0 0.00 8 15 65.22 NOS2 0 genome.wustl.edu 37 17 26091136 26091136 + Silent SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 17 26091136 26091136 G T SNP NOS2 ENST00000313735 human ensembl 74_37 -1 known silent c.2463 p.P821 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 tier1 - - 69 0 0.00 23 40 63.49 NRD1 0 genome.wustl.edu 37 1 52303157 52303157 + Splice_Site SNP A A T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 52303157 52303157 A T SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known splice_site c.764+2 e3+2 1.000 - - - no_errors NRD1 HGNC ENSG00000078618 tier1 - - 58 0 0.00 53 22 29.33 NRG2 0 genome.wustl.edu 37 5 139422532 139422534 + In_Frame_Del DEL GCT GCT - TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 5 139422532 139422534 GCT - DEL NRG2 ENST00000545385 human ensembl 74_37 -1 known in_frame_del c.123_121 p.S41in_frame_del 0.905:0.938:0.962 NULL pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like_dom - no_errors NRG2 HGNC ENSG00000158458 tier1 23 0 0.00 9 3 25.00 NXPH2 0 genome.wustl.edu 37 2 139429033 139429033 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 2 139429033 139429033 G T SNP NXPH2 ENST00000272641 human ensembl 74_37 -1 known missense c.254 p.A85D 1.000 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH2 HGNC ENSG00000144227 tier1 - - 47 0 0.00 56 12 17.65 OAT 0 genome.wustl.edu 37 10 126097428 126097428 + Silent SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 10 126097428 126097428 C T SNP OAT ENST00000368845 human ensembl 74_37 -1 known silent c.306 p.K102 0.021 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans - no_errors OAT HGNC ENSG00000065154 tier1 - - 98 0 0.00 52 36 40.45 OR10G8 0 genome.wustl.edu 37 11 123900843 123900843 + Missense_Mutation SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 11 123900843 123900843 T C SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known missense c.514 p.W172R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 tier1 - - 97 0 0.00 184 14 7.07 OR10G8 0 genome.wustl.edu 37 11 123900856 123900856 + Missense_Mutation SNP A A G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 11 123900856 123900856 A G SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known missense c.527 p.Y176C 0.950 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 OR10G8 HGNC ENSG00000234560 tier1 - - 98 0 0.00 189 13 6.44 OR2W1 0 genome.wustl.edu 37 6 29012660 29012660 + Missense_Mutation SNP A A T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 6 29012660 29012660 A T SNP OR2W1 ENST00000377175 human ensembl 74_37 -1 known missense c.293 p.I98N 0.022 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2W1 HGNC ENSG00000204704 tier1 - - 32 0 0.00 11 14 56.00 OR5B3 0 genome.wustl.edu 37 11 58170145 58170145 + Silent SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 11 58170145 58170145 G A SNP OR5B3 ENST00000309403 human ensembl 74_37 -1 known silent c.738 p.V246 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B3 HGNC ENSG00000172769 59 0 0.00 57 3 5.00 OR5K4 0 genome.wustl.edu 37 3 98073474 98073474 + Silent SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 98073474 98073474 T C SNP OR5K4 ENST00000354924 human ensembl 74_37 +1 known silent c.777 p.I259 0.859 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K4 HGNC ENSG00000196098 tier1 - - 88 0 0.00 25 18 41.86 OR8B4 0 genome.wustl.edu 37 11 124294378 124294378 + Silent SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 11 124294378 124294378 G T SNP OR8B4 ENST00000356130 human ensembl 74_37 -1 known silent c.390 p.L130 0.843 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B4 HGNC ENSG00000198657 tier1 - - 33 0 0.00 47 31 39.74 OR8U1 0 genome.wustl.edu 37 11 56143125 56143125 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 11 56143125 56143125 C T SNP OR8U1 ENST00000302270 human ensembl 74_37 +1 known missense c.26 p.A9V 0.033 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8U1 HGNC ENSG00000172199 44 0 0.00 35 2 5.41 OTOGL 0 genome.wustl.edu 37 12 80714314 80714314 + Silent SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 80714314 80714314 G A SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known silent c.3888 p.R1296 0.109 pfam_AbfB,superfamily_AbfB pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 tier1 - - 40 0 0.00 44 6 12.00 P2RY10 0 genome.wustl.edu 37 X 78216849 78216849 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 X 78216849 78216849 C T SNP P2RY10 ENST00000171757 human ensembl 74_37 +1 known missense c.832 p.P278S 0.009 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors P2RY10 HGNC ENSG00000078589 tier1 - - 9 0 0.00 6 16 72.73 PAPPA2 0 genome.wustl.edu 37 1 176734935 176734935 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 176734935 176734935 C T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.4285 p.L1429F 0.989 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 63 0 0.00 45 4 8.16 PCDHB12 0 genome.wustl.edu 37 5 140588791 140588791 + Silent SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 5 140588791 140588791 G A SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known silent c.312 p.L104 0.002 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 PCDHB12 HGNC ENSG00000120328 67 0 0.00 70 4 5.41 PCDHB2 0 genome.wustl.edu 37 5 140475258 140475258 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 5 140475258 140475258 G T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.884 p.R295L 0.000 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 PCDHB2 HGNC ENSG00000112852 61 0 0.00 45 3 6.25 PDCD6IP 0 genome.wustl.edu 37 3 33906852 33906852 + Missense_Mutation SNP C C G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 33906852 33906852 C G SNP PDCD6IP ENST00000457054 human ensembl 74_37 +1 known missense c.2377 p.Q793E 0.007 NULL pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 tier1 - - 70 0 0.00 23 31 57.41 PDE4D 0 genome.wustl.edu 37 5 58289273 58289273 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 5 58289273 58289273 C T SNP PDE4D ENST00000340635 human ensembl 74_37 -1 known missense c.941 p.R314Q 1.000 NULL pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 tier1 - - 65 0 0.00 33 9 21.43 PDE4D 0 genome.wustl.edu 37 5 58511631 58511631 + Missense_Mutation SNP A A G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 5 58511631 58511631 A G SNP PDE4D ENST00000340635 human ensembl 74_37 -1 known missense c.619 p.S207P 1.000 NULL pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 tier1 - - 57 0 0.00 27 15 35.71 PDE6H 0 genome.wustl.edu 37 12 15134380 15134380 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 15134380 15134380 G T SNP PDE6H ENST00000266395 human ensembl 74_37 +1 known missense c.222 p.L74F 1.000 pfam_PDE6_gamma,pirsf_PDE6_gamma pfam_PDE6_gamma,pirsf_PDE6_gamma - no_errors PDE6H HGNC ENSG00000139053 tier1 - - 43 0 0.00 45 4 8.16 PDPR 0 genome.wustl.edu 37 16 70187417 70187417 + Missense_Mutation SNP A A G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 16 70187417 70187417 A G SNP PDPR ENST00000288050 human ensembl 74_37 +1 known missense c.2176 p.I726V 0.993 pfam_GCV_T_N pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 tier1 - - 111 0 0.00 98 21 17.65 PDZD3 0 genome.wustl.edu 37 11 119056655 119056655 + Missense_Mutation SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 11 119056655 119056655 T C SNP PDZD3 ENST00000355547 human ensembl 74_37 +1 known missense c.38 p.L13S 0.029 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD3 HGNC ENSG00000172367 tier1 - - 60 0 0.00 41 53 56.38 PDZRN3 0 genome.wustl.edu 37 3 73433779 73433779 + Silent SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 73433779 73433779 G A SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known silent c.1938 p.F646 1.000 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 tier1 - - 32 0 0.00 10 13 56.52 PEAK1 0 genome.wustl.edu 37 15 77473641 77473641 + Missense_Mutation SNP T T A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 15 77473641 77473641 T A SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.628 p.I210F 0.142 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 tier1 - - 43 0 0.00 31 8 20.00 PHF14 0 genome.wustl.edu 37 7 11068417 11068417 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 7 11068417 11068417 G T SNP PHF14 ENST00000403050 human ensembl 74_37 +1 known missense c.1427 p.G476V 1.000 smart_Znf_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC ENSG00000106443 tier1 - - 62 0 0.00 30 16 34.78 PKN1 0 genome.wustl.edu 37 19 14581013 14581013 + Missense_Mutation SNP A A G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 19 14581013 14581013 A G SNP PKN1 ENST00000342216 human ensembl 74_37 +1 known missense c.2350 p.T784A 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_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN1 HGNC ENSG00000123143 tier1 - - 59 0 0.00 32 21 39.62 PLEKHA5 0 genome.wustl.edu 37 12 19496362 19496362 + Nonsense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 19496362 19496362 G T SNP PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known nonsense c.2347 p.E783* 0.989 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 64 0 0.00 51 4 7.27 PLEKHM2 0 genome.wustl.edu 37 1 16059221 16059221 + Missense_Mutation SNP C C G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 16059221 16059221 C G SNP PLEKHM2 ENST00000375799 human ensembl 74_37 +1 known missense c.2920 p.Q974E 1.000 NULL pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 tier1 - - 57 0 0.00 36 14 28.00 PLXNA2 0 genome.wustl.edu 37 1 208315682 208315682 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 208315682 208315682 C T SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.1498 p.E500K 1.000 superfamily_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 tier1 - - 86 0 0.00 34 29 46.03 PLXNA3 0 genome.wustl.edu 37 X 153697205 153697205 + Missense_Mutation SNP A A T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 X 153697205 153697205 A T SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.4327 p.I1443F 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 tier1 - - 33 0 0.00 14 32 69.57 PLXND1 0 genome.wustl.edu 37 3 129304794 129304794 + Splice_Site SNP C C G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 129304794 129304794 C G SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known splice_site c.1851+1 e5+1 0.994 - - - no_errors PLXND1 HGNC ENSG00000004399 tier1 - - 116 0 0.00 148 28 15.91 PODN 0 genome.wustl.edu 37 1 53542922 53542922 + Missense_Mutation SNP C C G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 53542922 53542922 C G SNP PODN ENST00000312553 human ensembl 74_37 +1 known missense c.786 p.N262K 0.850 smart_Leu-rich_rpt_typical-subtyp 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 tier1 - - 39 0 0.00 30 24 44.44 POGK 0 genome.wustl.edu 37 1 166818285 166818285 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 166818285 166818285 G T SNP POGK ENST00000367875 human ensembl 74_37 +1 known missense c.469 p.D157Y 0.406 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors POGK HGNC ENSG00000143157 62 0 0.00 51 3 5.56 POM121L12 0 genome.wustl.edu 37 7 53103931 53103931 + Missense_Mutation SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 7 53103931 53103931 C A SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.567 p.S189R 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 tier1 - - 68 0 0.00 65 13 16.67 POTEC 0 genome.wustl.edu 37 18 14542998 14542998 + Missense_Mutation SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 18 14542998 14542998 C A SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.148 p.D50Y 0.003 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 tier1 - - 243 0 0.00 217 16 6.87 POU4F3 0 genome.wustl.edu 37 5 145719130 145719130 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 5 145719130 145719130 G A SNP POU4F3 ENST00000230732 human ensembl 74_37 +1 known missense c.140 p.G47E 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 - no_errors POU4F3 HGNC ENSG00000091010 tier1 - - 89 0 0.00 31 44 58.67 PRAMEF1 0 genome.wustl.edu 37 1 12854479 12854479 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 12854479 12854479 C T SNP PRAMEF1 ENST00000332296 human ensembl 74_37 +1 known missense c.703 p.R235C 0.002 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 tier1 rs1063775 - 175 0 0.00 110 41 26.97 PRDM9 0 genome.wustl.edu 37 5 23527472 23527472 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 5 23527472 23527472 G A SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.2275 p.D759N 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 tier1 rs112666693 - 142 0 0.00 115 18 13.43 PRTFDC1 0 genome.wustl.edu 37 10 25138797 25138797 + Missense_Mutation SNP G G C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 10 25138797 25138797 G C SNP PRTFDC1 ENST00000320152 human ensembl 74_37 -1 known missense c.654 p.H218Q 0.922 NULL pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans - no_errors PRTFDC1 HGNC ENSG00000099256 tier1 - - 35 0 0.00 31 10 24.39 PTPLB 0 genome.wustl.edu 37 3 123301134 123301134 + Silent SNP A A T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 123301134 123301134 A T SNP PTPLB ENST00000383657 human ensembl 74_37 -1 known silent c.198 p.A66 0.998 NULL pfam_Tyr_Pase-like_PTPLA - no_errors PTPLB HGNC ENSG00000206527 tier1 - - 68 0 0.00 105 19 15.32 PTPRQ 0 genome.wustl.edu 37 12 80982205 80982205 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 80982205 80982205 G T SNP PTPRQ ENST00000266688 human ensembl 74_37 +1 known missense c.4571 p.W1524L 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC ENSG00000139304 tier1 - - 27 0 0.00 28 7 19.44 PURB 0 genome.wustl.edu 37 7 44924094 44924094 + Missense_Mutation SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 7 44924094 44924094 C A SNP PURB ENST00000395699 human ensembl 74_37 -1 known missense c.854 p.R285L 1.000 NULL pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURB HGNC ENSG00000146676 tier1 - - 78 0 0.00 64 23 26.44 REST 0 genome.wustl.edu 37 4 57796960 57796960 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 4 57796960 57796960 C T SNP REST ENST00000309042 human ensembl 74_37 +1 known missense c.1936 p.P646S 0.015 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 48 0 0.00 46 4 8.00 RFK 0 genome.wustl.edu 37 9 79002561 79002561 + RNA SNP A A G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 9 79002561 79002561 A G SNP RFK ENST00000479197 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors RFK HGNC ENSG00000135002 tier1 - - 23 0 0.00 20 4 16.67 RINT1 0 genome.wustl.edu 37 7 105189044 105189044 + Missense_Mutation SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 7 105189044 105189044 T C SNP RINT1 ENST00000257700 human ensembl 74_37 +1 known missense c.883 p.S295P 0.998 NULL pfam_RINT1_TIP1 - no_errors RINT1 HGNC ENSG00000135249 tier1 - - 52 0 0.00 40 14 25.93 RPS27L 0 genome.wustl.edu 37 15 63448736 63448736 + Missense_Mutation SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 15 63448736 63448736 T C SNP RPS27L ENST00000462430 human ensembl 74_37 -1 putative missense c.39 p.I13M 0.000 NULL pfam_Ribosomal_S27e,superfamily_Ribosomal_zn-bd - no_errors RPS27L HGNC ENSG00000185088 tier1 - - 65 0 0.00 45 11 19.64 RPUSD4 0 genome.wustl.edu 37 11 126080863 126080863 + Missense_Mutation SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 11 126080863 126080863 T C SNP RPUSD4 ENST00000298317 human ensembl 74_37 -1 known missense c.277 p.K93E 1.000 superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom - no_errors RPUSD4 HGNC ENSG00000165526 tier1 - - 69 0 0.00 89 36 28.80 RRP7A 0 genome.wustl.edu 37 22 42910199 42910199 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 22 42910199 42910199 G A SNP RRP7A ENST00000323013 human ensembl 74_37 -1 known missense c.670 p.R224W 1.000 NULL NULL - no_errors RRP7A HGNC ENSG00000189306 tier1 rs146958654 - 56 0 0.00 43 9 17.31 RXFP1 0 genome.wustl.edu 37 4 159493861 159493861 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 4 159493861 159493861 G A SNP RXFP1 ENST00000307765 human ensembl 74_37 +1 known missense c.61 p.G21S 0.000 NULL pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP1 HGNC ENSG00000171509 tier1 - - 70 0 0.00 76 28 26.92 RXFP1 0 genome.wustl.edu 37 4 159569710 159569710 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 4 159569710 159569710 G T SNP RXFP1 ENST00000307765 human ensembl 74_37 +1 known missense c.1816 p.V606F 0.951 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP1 HGNC ENSG00000171509 tier1 - - 43 0 0.00 75 4 5.06 RYK 0 genome.wustl.edu 37 3 133913932 133913932 + Missense_Mutation SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 133913932 133913932 T C SNP RYK ENST00000427044 human ensembl 74_37 -1 known missense c.307 p.I103V 0.970 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RYK HGNC ENSG00000163785 tier1 - - 43 0 0.00 61 16 20.78 SACS 0 genome.wustl.edu 37 13 23911518 23911518 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 13 23911518 23911518 C T SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.6497 p.R2166H 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 rs200888451 - 28 0 0.00 13 19 59.38 SATB2-AS1 0 genome.wustl.edu 37 2 200322723 200322723 + RNA SNP A A T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 2 200322723 200322723 A T SNP SATB2-AS1 ENST00000441234 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SATB2-AS1 HGNC ENSG00000225953 tier1 - - 67 0 0.00 66 7 9.59 SERINC2 0 genome.wustl.edu 37 1 31901872 31901872 + Silent SNP C C G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 31901872 31901872 C G SNP SERINC2 ENST00000373710 human ensembl 74_37 +1 known silent c.855 p.L285 0.550 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC2 HGNC ENSG00000168528 tier1 - - 72 0 0.00 48 18 27.27 SFXN5 0 genome.wustl.edu 37 2 73215478 73215478 + Splice_Site SNP C C G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 2 73215478 73215478 C G SNP SFXN5 ENST00000272433 human ensembl 74_37 -1 known splice_site c.535-1 e10-1 1.000 - - - no_errors SFXN5 HGNC ENSG00000144040 tier1 - - 31 0 0.00 36 9 20.00 SH3BP1 0 genome.wustl.edu 37 22 38061677 38061677 + Silent SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 22 38061677 38061677 C T SNP SH3BP1 ENST00000599616 human ensembl 74_37 +1 known silent c.1617 p.P539 0.018 superfamily_HAD-like_dom pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,superfamily_HAD-like_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 tier1 - - 74 0 0.00 34 27 44.26 SHPRH 0 genome.wustl.edu 37 6 146243864 146243864 + Silent SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 6 146243864 146243864 T C SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known silent c.3666 p.P1222 0.807 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 tier1 - - 66 0 0.00 70 16 18.60 SHROOM3 0 genome.wustl.edu 37 4 77661903 77661903 + Silent SNP C C G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 4 77661903 77661903 C G SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known silent c.2577 p.S859 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 tier1 - - 48 0 0.00 36 19 34.55 SLC16A1 0 genome.wustl.edu 37 1 113460201 113460201 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 113460201 113460201 C T SNP SLC16A1 ENST00000369626 human ensembl 74_37 -1 known missense c.827 p.G276E 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A1 HGNC ENSG00000155380 tier1 - - 56 0 0.00 33 26 44.07 SLC17A9 0 genome.wustl.edu 37 20 61594982 61594982 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 20 61594982 61594982 C T SNP SLC17A9 ENST00000370351 human ensembl 74_37 +1 known missense c.772 p.L258F 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A9 HGNC ENSG00000101194 tier1 - - 39 0 0.00 20 16 44.44 SLC22A12 0 genome.wustl.edu 37 11 64368307 64368307 + Silent SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 11 64368307 64368307 C T SNP SLC22A12 ENST00000377574 human ensembl 74_37 +1 known silent c.1495 p.L499 0.013 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC ENSG00000197891 tier1 - - 47 0 0.00 47 4 7.84 SLC22A25 0 genome.wustl.edu 37 11 62931426 62931426 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 11 62931426 62931426 G A SNP SLC22A25 ENST00000306494 human ensembl 74_37 -1 known missense c.1514 p.A505V 0.021 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A25 HGNC ENSG00000196600 tier1 - - 81 0 0.00 37 38 50.67 SLC38A1 0 genome.wustl.edu 37 12 46591568 46591568 + Missense_Mutation SNP G G C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 46591568 46591568 G C SNP SLC38A1 ENST00000398637 human ensembl 74_37 -1 known missense c.1297 p.L433V 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A1 HGNC ENSG00000111371 tier1 - - 90 0 0.00 63 19 23.17 SLC7A4 0 genome.wustl.edu 37 22 21384088 21384088 + Missense_Mutation SNP A A G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 22 21384088 21384088 A G SNP SLC7A4 ENST00000382932 human ensembl 74_37 -1 known missense c.1535 p.L512P 0.998 pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A4 HGNC ENSG00000099960 tier1 - - 78 0 0.00 49 13 20.97 SLC9A9 0 genome.wustl.edu 37 3 143551002 143551002 + Silent SNP A A C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 143551002 143551002 A C SNP SLC9A9 ENST00000316549 human ensembl 74_37 -1 known silent c.237 p.T79 0.999 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC ENSG00000181804 tier1 - - 47 0 0.00 82 10 10.87 SMC2 0 genome.wustl.edu 37 9 106860801 106860801 + Silent SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 9 106860801 106860801 C T SNP SMC2 ENST00000286398 human ensembl 74_37 +1 known silent c.393 p.F131 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 tier1 - - 48 0 0.00 21 36 63.16 SMURF1 0 genome.wustl.edu 37 7 98649881 98649881 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 7 98649881 98649881 G A SNP SMURF1 ENST00000361125 human ensembl 74_37 -1 known missense c.668 p.T223M 0.999 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors SMURF1 HGNC ENSG00000198742 tier1 - - 39 0 0.00 58 16 21.62 SOGA3 0 genome.wustl.edu 37 6 127834136 127834136 + Missense_Mutation SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 6 127834136 127834136 C A SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.1385 p.R462I 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 tier1 - - 57 0 0.00 43 24 35.82 SPATA17 0 genome.wustl.edu 37 1 217842377 217842377 + Silent SNP A A T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 217842377 217842377 A T SNP SPATA17 ENST00000366933 human ensembl 74_37 +1 known silent c.243 p.V81 1.000 superfamily_P-loop_NTPase pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors SPATA17 HGNC ENSG00000162814 tier1 - - 40 0 0.00 62 10 13.89 SPTA1 0 genome.wustl.edu 37 1 158622411 158622411 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 158622411 158622411 C T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.3221 p.R1074H 1.000 smart_Spectrin/alpha-actinin 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 23 0 0.00 27 2 6.90 ST18 0 genome.wustl.edu 37 8 53025816 53025816 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 8 53025816 53025816 G A SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.3086 p.P1029L 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 tier1 - - 54 0 0.00 35 31 46.97 TCF20 0 genome.wustl.edu 37 22 42607581 42607581 + Missense_Mutation SNP T T A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 22 42607581 42607581 T A SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known missense c.3731 p.D1244V 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 tier1 - - 52 0 0.00 24 23 48.94 TDRD6 0 genome.wustl.edu 37 6 46658264 46658264 + Missense_Mutation SNP C C G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 6 46658264 46658264 C G SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.2399 p.T800S 0.000 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 tier1 - - 42 0 0.00 30 14 31.82 TECPR2 0 genome.wustl.edu 37 14 102880972 102880972 + Splice_Site SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 14 102880972 102880972 G T SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known splice_site c.481-1 e4-1 1.000 - - - no_errors TECPR2 HGNC ENSG00000196663 62 0 0.00 41 3 6.82 TESK1 0 genome.wustl.edu 37 9 35609251 35609251 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 9 35609251 35609251 G A SNP TESK1 ENST00000336395 human ensembl 74_37 +1 known missense c.1393 p.E465K 0.275 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK1 HGNC ENSG00000107140 tier1 - - 43 0 0.00 44 14 24.14 TLE1 0 genome.wustl.edu 37 9 84249102 84249102 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 9 84249102 84249102 C T SNP TLE1 ENST00000376499 human ensembl 74_37 -1 known missense c.487 p.G163S 1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 tier1 rs143365960 - 65 0 0.00 57 4 6.56 TMPO 0 genome.wustl.edu 37 12 98927030 98927030 + Missense_Mutation SNP G G C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 98927030 98927030 G C SNP TMPO ENST00000266732 human ensembl 74_37 +1 known missense c.995 p.R332T 0.998 NULL pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 tier1 - - 50 0 0.00 50 14 21.88 TNKS2 0 genome.wustl.edu 37 10 93609336 93609336 + Missense_Mutation SNP A A G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 10 93609336 93609336 A G SNP TNKS2 ENST00000371627 human ensembl 74_37 +1 known missense c.2679 p.I893M 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 tier1 - - 36 0 0.00 36 17 32.08 TNNT2 0 genome.wustl.edu 37 1 201336929 201336929 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 201336929 201336929 C T SNP TNNT2 ENST00000458432 human ensembl 74_37 -1 known missense c.175 p.E59K 0.808 NULL pfam_Troponin - no_errors TNNT2 HGNC ENSG00000118194 tier1 - - 72 0 0.00 97 15 13.39 TNS3 0 genome.wustl.edu 37 7 47408054 47408054 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 7 47408054 47408054 G T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.2189 p.S730Y 0.026 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_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 tier1 - - 68 0 0.00 70 4 5.41 TP53 0 genome.wustl.edu 37 17 7578179 7578179 + Nonsense_Mutation SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 17 7578179 7578179 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.670 p.E224* 0.990 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 77 0 0.00 26 40 60.61 TPP2 0 genome.wustl.edu 37 13 103266526 103266526 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 13 103266526 103266526 G A SNP TPP2 ENST00000376065 human ensembl 74_37 +1 known missense c.370 p.A124T 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 tier1 - - 49 0 0.00 58 4 6.45 TRIML1 0 genome.wustl.edu 37 4 189063453 189063453 + Missense_Mutation SNP A A T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 4 189063453 189063453 A T SNP TRIML1 ENST00000332517 human ensembl 74_37 +1 known missense c.552 p.K184N 0.997 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,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 TRIML1 HGNC ENSG00000184108 22 0 0.00 46 7 13.21 TRPC4 0 genome.wustl.edu 37 13 38266166 38266166 + Missense_Mutation SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 13 38266166 38266166 C A SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known missense c.1204 p.V402F 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 tier1 - - 48 0 0.00 13 19 59.38 TRPC5 0 genome.wustl.edu 37 X 111155531 111155531 + Silent SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 X 111155531 111155531 G A SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known silent c.888 p.Y296 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 tier1 - - 22 0 0.00 3 19 86.36 TRPM1 0 genome.wustl.edu 37 15 31352747 31352747 + Silent SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 15 31352747 31352747 C A SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known silent c.1314 p.P438 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 tier1 - - 63 0 0.00 54 4 6.67 TSPAN15 0 genome.wustl.edu 37 10 71266819 71266819 + RNA SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 10 71266819 71266819 G A SNP TSPAN15 ENST00000486093 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors TSPAN15 HGNC ENSG00000099282 tier1 - - 63 0 0.00 46 13 22.03 TTN 0 genome.wustl.edu 37 2 179463508 179463508 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 2 179463508 179463508 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.49225 p.P16409S 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 24 0 0.00 38 2 5.00 TXN2 0 genome.wustl.edu 37 22 36877656 36877656 + RNA SNP C C G TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 22 36877656 36877656 C G SNP TXN2 ENST00000487725 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors TXN2 HGNC ENSG00000100348 tier1 - - 187 0 0.00 120 88 42.31 UGT2B4 0 genome.wustl.edu 37 4 70351133 70351133 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 4 70351133 70351133 G T SNP UGT2B4 ENST00000305107 human ensembl 74_37 -1 known missense c.1103 p.T368N 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B4 HGNC ENSG00000156096 tier1 - - 155 0 0.00 152 11 6.75 UTP14A 0 genome.wustl.edu 37 X 129055622 129055622 + RNA DEL A A - TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 X 129055622 129055622 A - DEL UTP14A ENST00000498179 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors UTP14A HGNC ENSG00000156697 tier1 21 0 0.00 13 5 27.78 VN1R2 0 genome.wustl.edu 37 19 53761868 53761868 + Silent SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 19 53761868 53761868 C T SNP VN1R2 ENST00000341702 human ensembl 74_37 +1 known silent c.240 p.H80 0.038 NULL pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R2 HGNC ENSG00000196131 46 0 0.00 73 4 5.19 VRK2 0 genome.wustl.edu 37 2 58276079 58276079 + Missense_Mutation SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 2 58276079 58276079 G A SNP VRK2 ENST00000340157 human ensembl 74_37 +1 known missense c.113 p.G38E 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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,pfscan_Prot_kinase_dom - no_errors VRK2 HGNC ENSG00000028116 tier1 - - 71 0 0.00 72 55 43.31 VWA2 0 genome.wustl.edu 37 10 116048824 116048824 + Silent SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 10 116048824 116048824 C T SNP VWA2 ENST00000392982 human ensembl 74_37 +1 known silent c.1698 p.D566 0.363 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC ENSG00000165816 tier1 rs199884277 - 45 0 0.00 44 5 10.00 WDR45B 0 genome.wustl.edu 37 17 80579621 80579621 + Missense_Mutation SNP G G T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 17 80579621 80579621 G T SNP WDR45B ENST00000392325 human ensembl 74_37 -1 known missense c.482 p.T161K 0.997 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45B HGNC ENSG00000141580 57 0 0.00 38 2 5.00 WHAMMP3 0 genome.wustl.edu 37 15 23201597 23201597 + RNA SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 15 23201597 23201597 C A SNP WHAMMP3 ENST00000400153 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors WHAMMP3 HGNC ENSG00000187667 tier1 - - 44 0 0.00 29 18 38.30 YIPF2 0 genome.wustl.edu 37 19 11034281 11034281 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 19 11034281 11034281 C T SNP YIPF2 ENST00000253031 human ensembl 74_37 -1 known missense c.724 p.G242R 0.849 pfam_Yip1 pfam_Yip1 - no_errors YIPF2 HGNC ENSG00000130733 tier1 - - 79 0 0.00 64 8 11.11 ZBTB39 0 genome.wustl.edu 37 12 57397269 57397269 + Missense_Mutation SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 12 57397269 57397269 T C SNP ZBTB39 ENST00000300101 human ensembl 74_37 -1 known missense c.1433 p.K478R 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB39 HGNC ENSG00000166860 tier1 - - 52 0 0.00 28 16 36.36 ZIC4 0 genome.wustl.edu 37 3 147120593 147120593 + Missense_Mutation SNP T T C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 3 147120593 147120593 T C SNP ZIC4 ENST00000525172 human ensembl 74_37 -1 known missense c.142 p.S48G 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC4 HGNC ENSG00000174963 tier1 - - 79 0 0.00 159 10 5.92 ZNF100 0 genome.wustl.edu 37 19 21909627 21909627 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 19 21909627 21909627 C T SNP ZNF100 ENST00000358296 human ensembl 74_37 -1 known missense c.1487 p.R496Q 0.001 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 ZNF100 HGNC ENSG00000197020 tier1 - - 63 0 0.00 82 6 6.82 ZNF37A 0 genome.wustl.edu 37 10 38406851 38406851 + Missense_Mutation SNP C C A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 10 38406851 38406851 C A SNP ZNF37A ENST00000351773 human ensembl 74_37 +1 known missense c.772 p.L258I 0.002 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 ZNF37A HGNC ENSG00000075407 tier1 - - 66 0 0.00 63 4 5.97 ZNF433 0 genome.wustl.edu 37 19 12127157 12127157 + Silent SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 19 12127157 12127157 G A SNP ZNF433 ENST00000344980 human ensembl 74_37 -1 known silent c.525 p.C175 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 ZNF433 HGNC ENSG00000197647 tier1 - - 67 0 0.00 46 18 28.12 ZNF496 0 genome.wustl.edu 37 1 247464330 247464330 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 247464330 247464330 C T SNP ZNF496 ENST00000366498 human ensembl 74_37 -1 known missense c.1363 p.V455I 0.907 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 tier1 - - 61 0 0.00 56 4 6.67 ZNF563 0 genome.wustl.edu 37 19 12430312 12430312 + Missense_Mutation SNP T T A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 19 12430312 12430312 T A SNP ZNF563 ENST00000293725 human ensembl 74_37 -1 known missense c.527 p.K176I 0.987 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 ZNF563 HGNC ENSG00000188868 tier1 - - 110 0 0.00 73 38 34.23 ZNF665 0 genome.wustl.edu 37 19 53669199 53669199 + Missense_Mutation SNP C C T TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 19 53669199 53669199 C T SNP ZNF665 ENST00000396424 human ensembl 74_37 -1 known missense c.544 p.E182K 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 tier1 - - 53 0 0.00 52 18 25.71 ZNF678 0 genome.wustl.edu 37 1 227843492 227843492 + Missense_Mutation SNP A A C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 1 227843492 227843492 A C SNP ZNF678 ENST00000397097 human ensembl 74_37 +1 known missense c.1706 p.E569A 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 ZNF678 HGNC ENSG00000181450 tier1 - - 97 0 0.00 91 24 20.87 ZNF837 0 genome.wustl.edu 37 19 58879599 58879599 + Missense_Mutation SNP G G C TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 19 58879599 58879599 G C SNP ZNF837 ENST00000427624 human ensembl 74_37 -1 known missense c.1101 p.D367E 0.275 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF837 HGNC ENSG00000152475 12 0 0.00 12 10 45.45 ZNF850 0 genome.wustl.edu 37 19 37239777 37239777 + Missense_Mutation SNP T T A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ee35a606-caef-43b3-b7cd-bec8956caa5b b0fc6d5a-b49d-4fd3-991c-0f18e31c3420 19 37239777 37239777 T A SNP ZNF850 ENST00000591344 human ensembl 74_37 -1 known missense c.2165 p.N722I 0.020 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 ZNF850 HGNC ENSG00000267041 tier1 - - 147 0 0.00 212 13 5.78