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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All A1CF 0 genome.wustl.edu 37 10 52595937 52595937 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 10 52595937 52595937 G A SNP A1CF ENST00000282641 human ensembl 69_37n -1 known silent c.501 p.I167 0.615 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors A1CF HGNC ENSG00000148584 239 0 0.00 174 36 17.06 - - - ABCA12 0 genome.wustl.edu 37 2 215815648 215815648 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 215815648 215815648 C G SNP ABCA12 ENST00000272895 human ensembl 69_37n -1 known missense c.6807 p.K2269N 1.000 pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 432 0 0.00 359 79 18.04 - - - ABL2 0 genome.wustl.edu 37 1 179095776 179095776 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 179095776 179095776 C T SNP ABL2 ENST00000502732 human ensembl 69_37n -1 known silent c.423 p.Q141 1.000 pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 70 0 0.00 82 47 36.43 - - - ACAT1 0 genome.wustl.edu 37 11 108002665 108002665 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 11 108002665 108002665 C T SNP ACAT1 ENST00000265838 human ensembl 69_37n +1 known missense c.104 p.S35L 0.991 NULL pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT1 HGNC ENSG00000075239 85 0 0.00 29 8 21.62 - - - ACOT1 0 genome.wustl.edu 37 14 74010102 74010102 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 14 74010102 74010102 G A SNP ACOT1 ENST00000311148 human ensembl 69_37n +1 known missense c.1009 p.E337K 0.239 pfam_BAAT_C,pfam_Dienelactn_hydro,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pfam_Dienelactn_hydro,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT1 HGNC ENSG00000184227 47 0 0.00 22 4 15.38 - - - ADAM21 0 genome.wustl.edu 37 14 70924304 70924304 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 14 70924304 70924304 C G SNP ADAM21 ENST00000267499 human ensembl 69_37n +1 known missense c.88 p.Q30E 0.000 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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 194 0 0.00 192 42 17.95 - - - ADAM21 0 genome.wustl.edu 37 14 70924844 70924844 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 14 70924844 70924844 C T SNP ADAM21 ENST00000267499 human ensembl 69_37n +1 known silent c.628 p.L210 0.997 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 106 0 0.00 98 29 22.83 - - - ADCY7 0 genome.wustl.edu 37 16 50341017 50341017 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 16 50341017 50341017 C G SNP ADCY7 ENST00000254235 human ensembl 69_37n +1 known missense c.1809 p.I603M 0.440 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 109 0 0.00 31 15 32.61 - - - AKAP9 0 genome.wustl.edu 37 7 91709273 91709273 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 7 91709273 91709273 C T SNP AKAP9 ENST00000359028 human ensembl 69_37n +1 known missense c.7862 p.S2621L 0.995 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like - no_errors AKAP9 HGNC ENSG00000127914 158 0 0.00 163 21 11.41 - - - ALDH1A1 0 genome.wustl.edu 37 9 75516128 75516128 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 9 75516128 75516128 G A SNP ALDH1A1 ENST00000297785 human ensembl 69_37n -1 known missense c.1502 p.S501L 1.000 superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 489 0 0.00 360 94 20.70 - - - ANKHD1 0 genome.wustl.edu 37 5 139908070 139908070 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 5 139908070 139908070 C G SNP ANKHD1 ENST00000297183 human ensembl 69_37n +1 known missense c.5539 p.L1847V 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 331 0 0.00 308 82 21.03 - - - ANKRD30B 0 genome.wustl.edu 37 18 14850226 14850226 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 18 14850226 14850226 C G SNP ANKRD30B ENST00000358984 human ensembl 69_37n +1 known missense c.3052 p.Q1018E 0.995 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 49 0 0.00 44 39 46.43 - - - ANXA4 0 genome.wustl.edu 37 2 70033627 70033627 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 70033627 70033627 G A SNP ANXA4 ENST00000394295 human ensembl 69_37n +1 known missense c.303 p.M101I 1.000 pfam_Annexin_repeat,superfamily_Annexin,prints_Annexin pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV,prints_AnnexinV - no_errors ANXA4 HGNC ENSG00000196975 191 0 0.00 148 39 20.74 - - - APOB 0 genome.wustl.edu 37 2 21242743 21242743 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 21242743 21242743 C G SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.2851 p.E951Q 0.694 superfamily_Lipid_transp_b-sht_shell pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 229 0 0.00 222 56 20.07 - - - ARAP1 0 genome.wustl.edu 37 11 72409112 72409112 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 11 72409112 72409112 C T SNP ARAP1 ENST00000393609 human ensembl 69_37n -1 known missense c.2581 p.D861N 0.652 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 40 0 0.00 25 9 26.47 - - - AS3MT 0 genome.wustl.edu 37 10 104638240 104638240 + Nonsense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 10 104638240 104638240 C T SNP AS3MT ENST00000369880 human ensembl 69_37n +1 known nonsense c.715 p.Q239* 0.898 NULL pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_12,pfam_PCMT,pfam_Methyltransferase-rel - no_errors AS3MT HGNC ENSG00000214435 293 0 0.00 274 36 11.58 - - - ASB6 0 genome.wustl.edu 37 9 132402823 132402823 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 9 132402823 132402823 C T SNP ASB6 ENST00000277458 human ensembl 69_37n -1 known missense c.292 p.E98K 1.000 superfamily_Ankyrin_rpt-contain_dom,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 - no_errors ASB6 HGNC ENSG00000148331 44 0 0.00 46 8 14.81 - - - ASPM 0 genome.wustl.edu 37 1 197071299 197071299 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 197071299 197071299 G A SNP ASPM ENST00000367409 human ensembl 69_37n -1 known missense c.7082 p.S2361F 0.788 superfamily_ARM-type_fold,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 179 0 0.00 221 139 38.40 - - - ATAD5 0 genome.wustl.edu 37 17 29221881 29221881 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 17 29221881 29221881 C G SNP ATAD5 ENST00000321990 human ensembl 69_37n +1 known missense c.5485 p.L1829V 1.000 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 301 0 0.00 159 55 25.70 - - - ATP10B 0 genome.wustl.edu 37 5 160059229 160059229 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 5 160059229 160059229 C T SNP ATP10B ENST00000327245 human ensembl 69_37n -1 known silent c.1527 p.Q509 0.952 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10B HGNC ENSG00000118322 117 0 0.00 63 16 20.25 - - - ATP12A 0 genome.wustl.edu 37 13 25264553 25264553 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 13 25264553 25264553 C T SNP ATP12A ENST00000218548 human ensembl 69_37n +1 known silent c.624 p.V208 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP12A HGNC ENSG00000075673 133 0 0.00 102 23 18.25 - - - ATP8B3 0 genome.wustl.edu 37 19 1783041 1783041 + Missense_Mutation SNP T T C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 1783041 1783041 T C SNP ATP8B3 ENST00000539485 human ensembl 69_37n -1 known missense c.3919 p.K1307E 0.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B3 HGNC ENSG00000130270 124 0 0.00 62 56 47.46 - - - ATRN 0 genome.wustl.edu 37 20 3541448 3541448 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 20 3541448 3541448 C G SNP ATRN ENST00000262919 human ensembl 69_37n +1 known missense c.1343 p.S448C 1.000 NULL pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EGF-like,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 502 0 0.00 408 101 19.80 - - - AUTS2 0 genome.wustl.edu 37 7 69064930 69064930 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 7 69064930 69064930 C T SNP AUTS2 ENST00000342771 human ensembl 69_37n +1 known silent c.291 p.V97 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 26 0 0.00 12 4 25.00 - - - BRWD3 0 genome.wustl.edu 37 X 79978166 79978166 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 X 79978166 79978166 C G SNP BRWD3 ENST00000373275 human ensembl 69_37n -1 known missense c.1771 p.D591H 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 334 0 0.00 285 65 18.57 - - - C11orf58 0 genome.wustl.edu 37 11 16776434 16776434 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 11 16776434 16776434 G C SNP C11orf58 ENST00000228136 human ensembl 69_37n +1 known missense c.335 p.G112A 1.000 NULL NULL - no_errors C11orf58 HGNC ENSG00000110696 204 0 0.00 159 36 18.37 - - - C12orf40 0 genome.wustl.edu 37 12 40041721 40041721 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 12 40041721 40041721 C T SNP C12orf40 ENST00000324616 human ensembl 69_37n +1 known missense c.512 p.T171I 0.001 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 231 0 0.00 168 32 16.00 - - - C14orf166B 0 genome.wustl.edu 37 14 77304305 77304305 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 14 77304305 77304305 G C SNP C14orf166B ENST00000393774 human ensembl 69_37n +1 known missense c.586 p.E196Q 0.954 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors C14orf166B HGNC ENSG00000100565 328 0 0.00 228 58 20.14 - - - C19orf33 0 genome.wustl.edu 37 19 38794918 38794918 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 38794918 38794918 G A SNP C19orf33 ENST00000301246 human ensembl 69_37n +1 known missense c.17 p.G6E 0.000 NULL NULL - no_errors C19orf33 HGNC ENSG00000167644 75 0 0.00 53 16 23.19 - - - C1orf51 0 genome.wustl.edu 37 1 150255964 150255964 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 150255964 150255964 G C SNP C1orf51 ENST00000290363 human ensembl 69_37n +1 known missense c.287 p.R96T 1.000 NULL NULL - no_errors C1orf51 HGNC ENSG00000159208 69 0 0.00 83 23 21.50 - - - C9orf131 0 genome.wustl.edu 37 9 35043842 35043842 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 9 35043842 35043842 G A SNP C9orf131 ENST00000312292 human ensembl 69_37n +1 known missense c.1216 p.D406N 0.002 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 100 0 0.00 53 19 26.03 - - - CACNG3 0 genome.wustl.edu 37 16 24372874 24372874 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 16 24372874 24372874 C T SNP CACNG3 ENST00000005284 human ensembl 69_37n +1 known missense c.638 p.S213L 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu - no_errors CACNG3 HGNC ENSG00000006116 207 0 0.00 148 29 16.38 - - - CAD 0 genome.wustl.edu 37 2 27449092 27449092 + Nonsense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 27449092 27449092 C T SNP CAD ENST00000264705 human ensembl 69_37n +1 known nonsense c.1936 p.Q646* 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf_euk,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf_euk - no_errors CAD HGNC ENSG00000084774 220 0 0.00 133 111 45.31 - - - CADPS 0 genome.wustl.edu 37 3 62477092 62477092 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 3 62477092 62477092 C G SNP CADPS ENST00000383710 human ensembl 69_37n -1 known missense c.2948 p.R983T 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 265 0 0.00 118 29 19.73 - - - CAMTA1 0 genome.wustl.edu 37 1 7309644 7309644 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 7309644 7309644 G A SNP CAMTA1 ENST00000303635 human ensembl 69_37n +1 known silent c.396 p.T132 1.000 pfam_CG-1_dom pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 271 0 0.00 168 48 22.22 - - - CARD6 0 genome.wustl.edu 37 5 40854270 40854270 + Nonsense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 5 40854270 40854270 C T SNP CARD6 ENST00000254691 human ensembl 69_37n +1 known nonsense c.2836 p.Q946* 0.003 NULL pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD - no_errors CARD6 HGNC ENSG00000132357 426 1 0.23 363 88 19.51 - - - CCDC101 0 genome.wustl.edu 37 16 28602948 28602948 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 16 28602948 28602948 C T SNP CCDC101 ENST00000317058 human ensembl 69_37n +1 known missense c.803 p.S268F 1.000 pfam_SGF29_tudor-like_dom pfam_SGF29_tudor-like_dom - no_errors CCDC101 HGNC ENSG00000176476 260 0 0.00 153 107 41.15 - - - CCDC135 0 genome.wustl.edu 37 16 57760057 57760057 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 16 57760057 57760057 G A SNP CCDC135 ENST00000562250 human ensembl 69_37n +1 putative missense c.605 p.R202Q 0.003 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CCDC135 HGNC ENSG00000159625 49 0 0.00 9 13 59.09 - - - CCDC82 0 genome.wustl.edu 37 11 96117522 96117522 + Missense_Mutation SNP T T A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 11 96117522 96117522 T A SNP CCDC82 ENST00000278520 human ensembl 69_37n -1 known missense c.390 p.L130F 0.000 NULL NULL - no_errors CCDC82 HGNC ENSG00000149231 612 2 0.33 160 291 64.52 - - - CCDC88A 0 genome.wustl.edu 37 2 55591121 55591121 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 55591121 55591121 C G SNP CCDC88A ENST00000436346 human ensembl 69_37n -1 known missense c.451 p.D151H 1.000 pfam_HOOK pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 228 0 0.00 158 39 19.80 - - - CD151 0 genome.wustl.edu 37 11 837971 837971 + Missense_Mutation SNP C C A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 11 837971 837971 C A SNP CD151 ENST00000322008 human ensembl 69_37n +1 known missense c.645 p.F215L 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD151 HGNC ENSG00000177697 352 1 0.28 178 56 23.93 - - - CD1D 0 genome.wustl.edu 37 1 158152865 158152865 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 158152865 158152865 G A SNP CD1D ENST00000368171 human ensembl 69_37n +1 known missense c.805 p.V269M 0.102 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1D HGNC ENSG00000158473 242 0 0.00 315 44 12.26 - - - CD83 0 genome.wustl.edu 37 6 14131891 14131891 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 6 14131891 14131891 C T SNP CD83 ENST00000379153 human ensembl 69_37n +1 known silent c.294 p.T98 0.024 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors CD83 HGNC ENSG00000112149 257 0 0.00 199 48 19.35 - - - CDC42BPB 0 genome.wustl.edu 37 14 103442325 103442325 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 14 103442325 103442325 C T SNP CDC42BPB ENST00000361246 human ensembl 69_37n -1 known missense c.1282 p.E428K 0.988 NULL pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,prints_DAG/PE-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPB HGNC ENSG00000198752 262 0 0.00 180 47 20.70 - - - CDH1 0 genome.wustl.edu 37 16 68772257 68772257 + Frame_Shift_Del DEL A A - TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 16 68772257 68772257 A - DEL CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_del c.106 p.S36fs 0.989 pfam_Cadherin_pro_dom,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 30 0 0.00 8 14 63.64 - - - CDH22 0 genome.wustl.edu 37 20 44828148 44828148 + Missense_Mutation SNP G G T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 20 44828148 44828148 G T SNP CDH22 ENST00000372262 human ensembl 69_37n -1 known missense c.1337 p.A446E 0.980 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 62 0 0.00 35 21 37.50 - - - CDK11A 0 genome.wustl.edu 37 1 1647791 1647791 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 1647791 1647791 C T SNP CDK11A ENST00000404249 human ensembl 69_37n -1 known missense c.482 p.R161K 1.000 NULL pfam_Prot_kinase_cat_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_cat_dom - no_errors CDK11A HGNC ENSG00000008128 993 0 0.00 685 126 15.52 - - - CDK11B 0 genome.wustl.edu 37 1 1572319 1572319 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 1572319 1572319 G C SNP CDK11B ENST00000513088 human ensembl 69_37n -1 putative missense c.1246 p.L416V 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_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_cat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CDK11B HGNC ENSG00000248333 115 0 0.00 57 24 29.63 - - - CHD9 0 genome.wustl.edu 37 16 53337714 53337714 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 16 53337714 53337714 G A SNP CHD9 ENST00000398510 human ensembl 69_37n +1 known silent c.5796 p.R1932 0.968 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,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 65 0 0.00 19 12 38.71 - - - CIT 0 genome.wustl.edu 37 12 120166328 120166328 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 12 120166328 120166328 G A SNP CIT ENST00000392520 human ensembl 69_37n -1 novel missense c.2327 p.S776L 1.000 NULL pfam_Citron,pfam_Pkinase_C,superfamily_HR1_rho-bd,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CIT HGNC ENSG00000122966 392 0 0.00 281 66 18.97 - - - COL6A2 0 genome.wustl.edu 37 21 47549150 47549150 + Silent SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 21 47549150 47549150 C G SNP COL6A2 ENST00000357838 human ensembl 69_37n +1 known silent c.2502 p.L834 1.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 21 0 0.00 22 5 18.52 - - - CPB1 0 genome.wustl.edu 37 3 148559668 148559668 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 3 148559668 148559668 G A SNP CPB1 ENST00000282957 human ensembl 69_37n +1 known missense c.533 p.R178K 1.000 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB1 HGNC ENSG00000153002 587 0 0.00 411 92 18.25 - - - CPQ 0 genome.wustl.edu 37 8 98041678 98041678 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 8 98041678 98041678 G A SNP CPQ ENST00000220763 human ensembl 69_37n +1 known missense c.1009 p.E337K 1.000 pfam_Peptidase_M28,pfam_Peptidase_M20 pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 206 1 0.48 128 26 16.88 - - - CSF2RB 0 genome.wustl.edu 37 22 37325762 37325762 + Nonsense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 22 37325762 37325762 C T SNP CSF2RB ENST00000262825 human ensembl 69_37n +1 known nonsense c.631 p.R211* 1.000 pirsf_IL3_rcpt_beta,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 59 0 0.00 39 9 18.75 - - - CSMD3 0 genome.wustl.edu 37 8 113364680 113364680 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 8 113364680 113364680 C T SNP CSMD3 ENST00000297405 human ensembl 69_37n -1 known missense c.6220 p.V2074I 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 188 0 0.00 137 66 32.51 - - - CTRC 0 genome.wustl.edu 37 1 15767045 15767045 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 15767045 15767045 G C SNP CTRC ENST00000375949 human ensembl 69_37n +1 known missense c.189 p.L63F 0.997 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors CTRC HGNC ENSG00000162438 91 0 0.00 64 19 22.62 - - - CTSO 0 genome.wustl.edu 37 4 156849527 156849527 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 4 156849527 156849527 C T SNP CTSO ENST00000433477 human ensembl 69_37n -1 known missense c.892 p.D298N 0.977 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSO HGNC ENSG00000256043 300 0 0.00 177 110 38.33 - - - CXorf22 0 genome.wustl.edu 37 X 35966471 35966471 + Silent SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 X 35966471 35966471 C G SNP CXorf22 ENST00000297866 human ensembl 69_37n +1 known silent c.558 p.L186 0.000 superfamily_PapD-like superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 438 0 0.00 348 103 22.84 - - - DCBLD1 0 genome.wustl.edu 37 6 117846569 117846569 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 6 117846569 117846569 C T SNP DCBLD1 ENST00000338728 human ensembl 69_37n +1 known missense c.557 p.S186F 0.999 pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL pfam_Coagulation_fac_5/8-C_type_dom,pfam_LCCL,pfam_CUB,superfamily_Galactose-bd-like,superfamily_LCCL,superfamily_CUB,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD1 HGNC ENSG00000164465 320 0 0.00 244 62 20.26 - - - DENND5B 0 genome.wustl.edu 37 12 31545273 31545273 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 12 31545273 31545273 C G SNP DENND5B ENST00000306833 human ensembl 69_37n -1 known missense c.3499 p.E1167Q 1.000 pfam_Run,pfscan_Run pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 102 0 0.00 62 37 37.00 - - - DEPDC4 0 genome.wustl.edu 37 12 100660753 100660753 + Silent SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 12 100660753 100660753 C G SNP DEPDC4 ENST00000378244 human ensembl 69_37n -1 known silent c.102 p.L34 0.000 NULL pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC4 HGNC ENSG00000166153 70 0 0.00 40 12 23.08 - - - DHRS7 0 genome.wustl.edu 37 14 60616218 60616218 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 14 60616218 60616218 G A SNP DHRS7 ENST00000554101 human ensembl 69_37n -1 putative missense c.809 p.S270L 0.030 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DHRS7 HGNC ENSG00000100612 189 0 0.00 175 39 18.06 - - - DIP2B 0 genome.wustl.edu 37 12 51097988 51097988 + Silent SNP G G T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 12 51097988 51097988 G T SNP DIP2B ENST00000301180 human ensembl 69_37n +1 known silent c.2391 p.L797 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 523 1 0.19 259 219 45.82 - - - DMXL1 0 genome.wustl.edu 37 5 118464937 118464937 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 5 118464937 118464937 G A SNP DMXL1 ENST00000539542 human ensembl 69_37n +1 known silent c.1134 p.L378 0.999 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 174 0 0.00 134 36 21.18 - - - DMXL1 0 genome.wustl.edu 37 5 118582789 118582789 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 5 118582789 118582789 G C SNP DMXL1 ENST00000539542 human ensembl 69_37n +1 known missense c.9022 p.E3008Q 1.000 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 232 0 0.00 228 44 16.18 - - - DNAH11 0 genome.wustl.edu 37 7 21599382 21599382 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 7 21599382 21599382 G C SNP DNAH11 ENST00000328843 human ensembl 69_37n +1 known missense c.854 p.R285T 0.006 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 223 0 0.00 192 48 19.92 - - - DNAJA3 0 genome.wustl.edu 37 16 4484516 4484516 + Nonsense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 16 4484516 4484516 C T SNP DNAJA3 ENST00000262375 human ensembl 69_37n +1 known nonsense c.343 p.Q115* 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DnaJ_N,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_N,pfscan_DnaJ_N,pfscan_HSP_DnaJ_Cys-rich_dom,prints_Hsp_DnaJ - no_errors DNAJA3 HGNC ENSG00000103423 190 0 0.00 150 45 23.08 - - - DNAJB1 0 genome.wustl.edu 37 19 14629014 14629014 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 14629014 14629014 C G SNP DNAJB1 ENST00000254322 human ensembl 69_37n -1 known missense c.148 p.E50Q 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB1 HGNC ENSG00000132002 21 0 0.00 20 9 31.03 - - - DNHD1 0 genome.wustl.edu 37 11 6541509 6541509 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 11 6541509 6541509 G A SNP DNHD1 ENST00000254579 human ensembl 69_37n +1 known silent c.1827 p.L609 0.001 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 189 0 0.00 112 71 38.80 - - - DNM2 0 genome.wustl.edu 37 19 10870471 10870471 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 10870471 10870471 C T SNP DNM2 ENST00000314646 human ensembl 69_37n +1 known silent c.219 p.L73 1.000 pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin - no_errors DNM2 HGNC ENSG00000079805 288 0 0.00 199 53 20.87 - - - DUOX1 0 genome.wustl.edu 37 15 45440507 45440507 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 15 45440507 45440507 G A SNP DUOX1 ENST00000321429 human ensembl 69_37n +1 known missense c.2680 p.A894T 0.519 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 296 0 0.00 171 121 41.30 - - - DYRK1A 0 genome.wustl.edu 37 21 38884772 38884772 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 21 38884772 38884772 G C SNP DYRK1A ENST00000398960 human ensembl 69_37n +1 known missense c.2230 p.D744H 1.000 NULL pfam_Prot_kinase_cat_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_cat_dom - no_errors DYRK1A HGNC ENSG00000157540 159 0 0.00 151 40 20.94 - - - EPHA5 0 genome.wustl.edu 37 4 66231763 66231763 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 4 66231763 66231763 C T SNP EPHA5 ENST00000273854 human ensembl 69_37n -1 known missense c.1937 p.G646E 1.000 pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 296 0 0.00 276 61 18.10 - - - ERBB2 0 genome.wustl.edu 37 17 37880220 37880220 + Missense_Mutation SNP T T C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 17 37880220 37880220 T C SNP ERBB2 ENST00000269571 human ensembl 69_37n +1 known missense c.2264 p.L755S 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 290 0 0.00 110 241 68.66 - - - ERBB3 0 genome.wustl.edu 37 12 56482607 56482607 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 12 56482607 56482607 C T SNP ERBB3 ENST00000267101 human ensembl 69_37n +1 known missense c.1064 p.T355I 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 218 0 0.00 108 151 58.08 - - - ESCO1 0 genome.wustl.edu 37 18 19146114 19146114 + Missense_Mutation SNP C C A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 18 19146114 19146114 C A SNP ESCO1 ENST00000269214 human ensembl 69_37n -1 known missense c.1699 p.D567Y 0.999 NULL NULL - no_errors ESCO1 HGNC ENSG00000141446 507 1 0.20 361 76 17.31 - - - ESYT2 0 genome.wustl.edu 37 7 158560422 158560422 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 7 158560422 158560422 G C SNP ESYT2 ENST00000251527 human ensembl 69_37n -1 known missense c.991 p.L331V 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors ESYT2 HGNC ENSG00000117868 174 0 0.00 132 24 15.38 - - - FAM155A 0 genome.wustl.edu 37 13 108518787 108518787 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 13 108518787 108518787 G C SNP FAM155A ENST00000375915 human ensembl 69_37n -1 known missense c.158 p.S53C 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 68 0 0.00 50 13 20.63 - - - FAM21A 0 genome.wustl.edu 37 10 51827768 51827768 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 10 51827768 51827768 G A SNP FAM21A ENST00000282633 human ensembl 69_37n +1 known missense c.3 p.M1I 0.993 NULL NULL - no_errors FAM21A HGNC ENSG00000099290 16 0 0.00 11 5 31.25 - - - FAM59A 0 genome.wustl.edu 37 18 29848311 29848311 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 18 29848311 29848311 C T SNP FAM59A ENST00000269209 human ensembl 69_37n -1 known silent c.2154 p.Q718 1.000 NULL superfamily_SAM/pointed - no_errors FAM59A HGNC ENSG00000141441 151 0 0.00 130 30 18.75 - - - FAM73B 0 genome.wustl.edu 37 9 131830567 131830567 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 9 131830567 131830567 G A SNP FAM73B ENST00000358369 human ensembl 69_37n +1 known missense c.1360 p.A454T 0.997 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73B HGNC ENSG00000148343 61 0 0.00 48 25 34.25 - - - FANCA 0 genome.wustl.edu 37 16 89809343 89809343 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 16 89809343 89809343 G A SNP FANCA ENST00000389301 human ensembl 69_37n -1 known silent c.3630 p.F1210 0.949 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 258 0 0.00 90 58 39.19 - - - FAP 0 genome.wustl.edu 37 2 163044822 163044822 + Nonsense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 163044822 163044822 C T SNP FAP ENST00000188790 human ensembl 69_37n -1 known nonsense c.1671 p.W557* 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 169 0 0.00 179 38 17.51 - - - FARSA 0 genome.wustl.edu 37 19 13041152 13041152 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 13041152 13041152 C G SNP FARSA ENST00000314606 human ensembl 69_37n -1 known missense c.388 p.D130H 1.000 NULL pfam_Phenylalanyl-tRNA_Synthase,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_asu - no_errors FARSA HGNC ENSG00000179115 89 0 0.00 79 17 17.71 - - - FBXL2 0 genome.wustl.edu 37 3 33420176 33420176 + Splice_Site SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 3 33420176 33420176 G C SNP FBXL2 ENST00000484457 human ensembl 69_37n +1 known splice_site c.895-1 e13-1 1.000 - - - no_errors FBXL2 HGNC ENSG00000153558 340 0 0.00 230 72 23.76 - - - FGF13 0 genome.wustl.edu 37 X 137717749 137717749 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 X 137717749 137717749 G A SNP FGF13 ENST00000370603 human ensembl 69_37n -1 known missense c.500 p.S167L 0.974 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF,prints_GF_heparin-bd pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF,prints_GF_heparin-bd - no_errors FGF13 HGNC ENSG00000129682 428 0 0.00 196 158 44.51 - - - FILIP1 0 genome.wustl.edu 37 6 76024427 76024427 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 6 76024427 76024427 G C SNP FILIP1 ENST00000237172 human ensembl 69_37n -1 known missense c.1121 p.S374C 1.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 375 0 0.00 327 88 21.20 - - - FKBP9 0 genome.wustl.edu 37 7 33035890 33035890 + Silent SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 7 33035890 33035890 G C SNP FKBP9 ENST00000538336 human ensembl 69_37n +1 known silent c.1314 p.L438 0.977 pfam_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP9 HGNC ENSG00000122642 253 0 0.00 179 46 20.44 - - - FLT1 0 genome.wustl.edu 37 13 29005385 29005385 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 13 29005385 29005385 G C SNP FLT1 ENST00000282397 human ensembl 69_37n -1 known missense c.876 p.F292L 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT1 HGNC ENSG00000102755 346 0 0.00 266 72 21.30 - - - FNDC1 0 genome.wustl.edu 37 6 159653669 159653669 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 6 159653669 159653669 G A SNP FNDC1 ENST00000297267 human ensembl 69_37n +1 known missense c.2125 p.D709N 0.370 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 39 0 0.00 30 12 28.57 - - - FOXA1 0 genome.wustl.edu 37 14 38061461 38061461 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 14 38061461 38061461 G C SNP FOXA1 ENST00000250448 human ensembl 69_37n -1 known missense c.528 p.I176M 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA1 HGNC ENSG00000129514 144 0 0.00 53 65 55.08 - - - FRMPD1 0 genome.wustl.edu 37 9 37692653 37692653 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 9 37692653 37692653 G A SNP FRMPD1 ENST00000377765 human ensembl 69_37n +1 known silent c.15 p.E5 0.702 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 163 0 0.00 76 20 20.83 - - - FRRS1 0 genome.wustl.edu 37 1 100185140 100185140 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 100185140 100185140 G A SNP FRRS1 ENST00000287474 human ensembl 69_37n -1 known missense c.1070 p.S357F 0.000 smart_DOMON_domain,pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors FRRS1 HGNC ENSG00000156869 291 1 0.34 147 51 25.76 - - - FSHR 0 genome.wustl.edu 37 2 49195939 49195939 + Missense_Mutation SNP T T C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 49195939 49195939 T C SNP FSHR ENST00000406846 human ensembl 69_37n -1 known missense c.752 p.N251S 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_supfam,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 277 0 0.00 153 93 37.65 - - - FYCO1 0 genome.wustl.edu 37 3 46007876 46007876 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 3 46007876 46007876 G C SNP FYCO1 ENST00000535325 human ensembl 69_37n -1 known missense c.2950 p.Q984E 0.993 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 93 0 0.00 49 15 23.44 - - - GALNT5 0 genome.wustl.edu 37 2 158142577 158142577 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 158142577 158142577 C T SNP GALNT5 ENST00000259056 human ensembl 69_37n +1 known missense c.1672 p.R558W 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 259 0 0.00 195 46 19.01 - - - GAS2L3 0 genome.wustl.edu 37 12 101018311 101018311 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 12 101018311 101018311 G A SNP GAS2L3 ENST00000266754 human ensembl 69_37n +1 known silent c.1728 p.Q576 0.000 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 135 0 0.00 69 50 42.02 - - - GLCE 0 genome.wustl.edu 37 15 69548380 69548380 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 15 69548380 69548380 C G SNP GLCE ENST00000261858 human ensembl 69_37n +1 known missense c.235 p.Q79E 1.000 NULL pfam_C5-epim - no_errors GLCE HGNC ENSG00000138604 258 1 0.39 241 62 20.46 - - - GLS 0 genome.wustl.edu 37 2 191760405 191760405 + Nonsense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 191760405 191760405 C T SNP GLS ENST00000320717 human ensembl 69_37n +1 known nonsense c.559 p.Q187* 1.000 NULL pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS HGNC ENSG00000115419 154 1 0.65 125 24 16.11 - - - GLYATL1 0 genome.wustl.edu 37 11 58714563 58714563 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 11 58714563 58714563 G A SNP GLYATL1 ENST00000317391 human ensembl 69_37n +1 known missense c.3 p.M1I 0.000 pfam_Glycine_N-acyltransferase_N pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL1 HGNC ENSG00000166840 422 0 0.00 194 99 33.79 - - - GOLGA2 0 genome.wustl.edu 37 9 131023779 131023779 + Missense_Mutation SNP C C A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 9 131023779 131023779 C A SNP GOLGA2 ENST00000421699 human ensembl 69_37n -1 known missense c.1205 p.G402V 0.887 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 175 0 0.00 223 36 13.90 - - - GPR112 0 genome.wustl.edu 37 X 135427024 135427024 + Missense_Mutation SNP A A G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 X 135427024 135427024 A G SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known missense c.1159 p.T387A 0.023 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 146 0 0.00 77 66 46.15 - - - GPR153 0 genome.wustl.edu 37 1 6313985 6313985 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 6313985 6313985 G A SNP GPR153 ENST00000377893 human ensembl 69_37n -1 known silent c.579 p.I193 0.983 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPCR_153/162 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPCR_153,prints_GPCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 25 0 0.00 20 6 22.22 - - - GSTM3 0 genome.wustl.edu 37 1 110280959 110280959 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 110280959 110280959 C T SNP GSTM3 ENST00000256594 human ensembl 69_37n -1 known silent c.219 p.K73 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM3 HGNC ENSG00000134202 373 1 0.27 216 59 21.45 - - - GUCY2F 0 genome.wustl.edu 37 X 108638635 108638635 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 X 108638635 108638635 G A SNP GUCY2F ENST00000218006 human ensembl 69_37n -1 known silent c.2359 p.L787 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_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_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 420 0 0.00 242 154 38.79 - - - HCRTR1 0 genome.wustl.edu 37 1 32090605 32090605 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 32090605 32090605 G A SNP HCRTR1 ENST00000373706 human ensembl 69_37n +1 known missense c.973 p.G325R 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Orexin_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Orexin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt - no_errors HCRTR1 HGNC ENSG00000121764 53 0 0.00 26 10 27.78 - - - HDHD1 0 genome.wustl.edu 37 X 7023749 7023749 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 X 7023749 7023749 G A SNP HDHD1 ENST00000424830 human ensembl 69_37n -1 known silent c.261 p.V87 0.006 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3 - no_errors HDHD1 HGNC ENSG00000130021 201 0 0.00 159 40 20.00 - - - HEATR7A 0 genome.wustl.edu 37 8 145246704 145246704 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 8 145246704 145246704 C T SNP HEATR7A ENST00000326134 human ensembl 69_37n +1 known silent c.801 p.L267 0.997 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors HEATR7A HGNC ENSG00000179832 74 0 0.00 55 8 12.70 - - - HECW1 0 genome.wustl.edu 37 7 43580831 43580831 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 7 43580831 43580831 G C SNP HECW1 ENST00000429529 human ensembl 69_37n +1 putative missense c.260 p.R87P 0.504 pfam_HECT,superfamily_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,pfscan_HECT - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HECW1 HGNC ENSG00000002746 276 0 0.00 228 63 21.58 - - - HIF1A 0 genome.wustl.edu 37 14 62207737 62207737 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 14 62207737 62207737 C T SNP HIF1A ENST00000539097 human ensembl 69_37n +1 known missense c.1996 p.P666S 1.000 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd,prints_HIF-1_alpha,tigrfam_PAS - no_errors HIF1A HGNC ENSG00000100644 189 0 0.00 145 27 15.70 - - - HIPK2 0 genome.wustl.edu 37 7 139288862 139288862 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 7 139288862 139288862 C G SNP HIPK2 ENST00000406875 human ensembl 69_37n -1 known missense c.2220 p.E740D 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK2 HGNC ENSG00000064393 82 0 0.00 51 12 19.05 - - - HIST4H4 0 genome.wustl.edu 37 12 14923905 14923905 + Silent SNP G G T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 12 14923905 14923905 G T SNP HIST4H4 ENST00000358064 human ensembl 69_37n -1 known silent c.114 p.L38 0.231 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST4H4 HGNC ENSG00000197837 70 0 0.00 64 16 20.00 - - - HLA-DRB6 0 genome.wustl.edu 37 6 32522679 32522679 + RNA SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 6 32522679 32522679 G C SNP HLA-DRB6 ENST00000411500 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors HLA-DRB6 HGNC ENSG00000229391 17 0 0.00 21 13 38.24 - - - HNRNPH1 0 genome.wustl.edu 37 5 179044636 179044636 + Nonsense_Mutation SNP G G T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 5 179044636 179044636 G T SNP HNRNPH1 ENST00000521173 human ensembl 69_37n -1 novel nonsense c.560 p.S187* 0.992 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_Znf_CHHC,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_start_codon:pseudogene:no_stop_codon HNRNPH1 HGNC ENSG00000169045 145 0 0.00 122 32 20.78 - - - HTR1B 0 genome.wustl.edu 37 6 78172401 78172401 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 6 78172401 78172401 C T SNP HTR1B ENST00000369947 human ensembl 69_37n -1 known silent c.720 p.L240 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_Adrnrgc_rcpt - no_errors HTR1B HGNC ENSG00000135312 97 0 0.00 77 22 22.22 - - - HUWE1 0 genome.wustl.edu 37 X 53644041 53644041 + Missense_Mutation SNP C C A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 X 53644041 53644041 C A SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known missense c.1847 p.R616L 1.000 pfam_E3_Ub_ligase_DUF913,superfamily_ARM-type_fold pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 242 1 0.41 203 47 18.73 - - - IK 0 genome.wustl.edu 37 5 140037204 140037204 + Silent SNP G G T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 5 140037204 140037204 G T SNP IK ENST00000417647 human ensembl 69_37n +1 known silent c.867 p.L289 1.000 pfam_RED_N pfam_RED_N,pfam_RED_C - no_errors IK HGNC ENSG00000113141 207 0 0.00 145 60 29.27 - - - ILK 0 genome.wustl.edu 37 11 6631267 6631267 + Splice_Site SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 11 6631267 6631267 G A SNP ILK ENST00000299421 human ensembl 69_37n +1 known splice_site c.1078+1 e10+1 1.000 - - - no_errors ILK HGNC ENSG00000166333 115 0 0.00 119 14 10.53 - - - INO80 0 genome.wustl.edu 37 15 41384317 41384317 + Frame_Shift_Del DEL C C - TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 15 41384317 41384317 C - DEL INO80 ENST00000361937 human ensembl 69_37n -1 known frame_shift_del c.445 p.E149fs 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 480 0 0.00 445 53 10.56 - - - IQCA1 0 genome.wustl.edu 37 2 237374267 237374267 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 237374267 237374267 C T SNP IQCA1 ENST00000418802 human ensembl 69_37n -1 putative missense c.862 p.A288T 0.787 NULL pfscan_IQ_motif_EF-hand-BS - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IQCA1 HGNC ENSG00000132321 369 0 0.00 219 159 42.06 - - - KAT6A 0 genome.wustl.edu 37 8 41798588 41798588 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 8 41798588 41798588 C G SNP KAT6A ENST00000265713 human ensembl 69_37n -1 known missense c.2811 p.K937N 0.017 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 122 0 0.00 69 61 46.92 - - - KCNJ13 0 genome.wustl.edu 37 2 233633333 233633333 + Silent SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 233633333 233633333 G C SNP KCNJ13 ENST00000233826 human ensembl 69_37n -1 known silent c.651 p.L217 0.998 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir7,prints_K_chnl_inward-rec_Kir_Cr2 - no_errors KCNJ13 HGNC ENSG00000115474 267 0 0.00 237 52 17.87 - - - KCTD20 0 genome.wustl.edu 37 6 36447445 36447445 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 6 36447445 36447445 C G SNP KCTD20 ENST00000265344 human ensembl 69_37n +1 known missense c.341 p.S114C 1.000 NULL NULL - no_errors KCTD20 HGNC ENSG00000112078 213 0 0.00 275 49 15.08 - - - KIAA0430 0 genome.wustl.edu 37 16 15728701 15728701 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 16 15728701 15728701 G A SNP KIAA0430 ENST00000396368 human ensembl 69_37n -1 known silent c.919 p.L307 0.997 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 722 0 0.00 581 155 21.06 - - - KIAA0922 0 genome.wustl.edu 37 4 154544085 154544085 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 4 154544085 154544085 G C SNP KIAA0922 ENST00000409959 human ensembl 69_37n +1 known missense c.3895 p.D1299H 0.996 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 121 0 0.00 97 28 22.40 - - - KIAA1109 0 genome.wustl.edu 37 4 123201085 123201085 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 4 123201085 123201085 C T SNP KIAA1109 ENST00000264501 human ensembl 69_37n +1 known missense c.8747 p.S2916F 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 195 0 0.00 152 34 18.28 - - - KIF3B 0 genome.wustl.edu 37 20 30898414 30898414 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 20 30898414 30898414 C T SNP KIF3B ENST00000375712 human ensembl 69_37n +1 known silent c.834 p.V278 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 170 0 0.00 145 34 18.99 - - - KIR2DL4 0 genome.wustl.edu 37 19 55325488 55325488 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 55325488 55325488 G C SNP KIR2DL4 ENST00000396284 human ensembl 69_37n +1 known missense c.1116 p.L372F 0.019 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL4 HGNC ENSG00000189013 17 0 0.00 1 9 90.00 - - - KLHL30 0 genome.wustl.edu 37 2 239057647 239057647 + Splice_Site SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 239057647 239057647 G A SNP KLHL30 ENST00000409223 human ensembl 69_37n +1 known splice_site c.1340-1 e6-1 1.000 - - - no_errors KLHL30 HGNC ENSG00000168427 54 0 0.00 58 8 12.12 - - - KPNA3 0 genome.wustl.edu 37 13 50276031 50276031 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 13 50276031 50276031 C T SNP KPNA3 ENST00000261667 human ensembl 69_37n -1 known missense c.1471 p.D491N 1.000 superfamily_ARM-type_fold pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA3 HGNC ENSG00000102753 198 0 0.00 156 44 21.89 - - - KTN1 0 genome.wustl.edu 37 14 56138368 56138368 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 14 56138368 56138368 G C SNP KTN1 ENST00000395309 human ensembl 69_37n +1 known missense c.3433 p.E1145Q 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 288 0 0.00 297 56 15.86 - - - LAMB3 0 genome.wustl.edu 37 1 209790817 209790817 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 209790817 209790817 C T SNP LAMB3 ENST00000356082 human ensembl 69_37n -1 known missense c.3166 p.E1056K 0.946 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 106 0 0.00 120 19 13.67 - - - LASP1 0 genome.wustl.edu 37 17 37054741 37054741 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 17 37054741 37054741 G A SNP LASP1 ENST00000318008 human ensembl 69_37n +1 known missense c.326 p.R109K 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_LIM,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors LASP1 HGNC ENSG00000002834 156 0 0.00 139 31 18.13 - - - LCMT2 0 genome.wustl.edu 37 15 43621556 43621556 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 15 43621556 43621556 C G SNP LCMT2 ENST00000305641 human ensembl 69_37n -1 known missense c.1132 p.E378Q 1.000 NULL pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 115 0 0.00 99 29 22.66 - - - LCMT2 0 genome.wustl.edu 37 15 43621844 43621844 + Splice_Site SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 15 43621844 43621844 C T SNP LCMT2 ENST00000544735 human ensembl 69_37n -1 known splice_site c.1-1 e1-1 0.687 - - - no_errors LCMT2 HGNC ENSG00000168806 32 0 0.00 35 10 22.22 - - - LCMT2 0 genome.wustl.edu 37 15 43622180 43622180 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 15 43622180 43622180 C T SNP LCMT2 ENST00000305641 human ensembl 69_37n -1 known missense c.508 p.E170K 0.091 pfam_LCM_MeTrfase pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 16 0 0.00 11 4 26.67 - - - LIG1 0 genome.wustl.edu 37 19 48643316 48643316 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 48643316 48643316 G A SNP LIG1 ENST00000263274 human ensembl 69_37n -1 known silent c.999 p.L333 1.000 pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold-like,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 78 0 0.00 58 19 24.68 - - - LOXHD1 0 genome.wustl.edu 37 18 44173590 44173590 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 18 44173590 44173590 G A SNP LOXHD1 ENST00000536736 human ensembl 69_37n -1 known silent c.1404 p.F468 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 - no_errors LOXHD1 HGNC ENSG00000167210 480 0 0.00 475 58 10.88 - - - LOXL2 0 genome.wustl.edu 37 8 23177557 23177557 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 8 23177557 23177557 C T SNP LOXL2 ENST00000389131 human ensembl 69_37n -1 known silent c.1311 p.L437 1.000 superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt - no_errors LOXL2 HGNC ENSG00000134013 163 0 0.00 83 59 41.26 - - - LRCH1 0 genome.wustl.edu 37 13 47127578 47127578 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 13 47127578 47127578 C T SNP LRCH1 ENST00000389798 human ensembl 69_37n +1 known missense c.47 p.S16L 0.016 NULL pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC ENSG00000136141 29 0 0.00 17 5 22.73 - - - LRP1 0 genome.wustl.edu 37 12 57599437 57599437 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 12 57599437 57599437 C T SNP LRP1 ENST00000243077 human ensembl 69_37n +1 known missense c.11567 p.T3856M 0.945 superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 85 0 0.00 81 33 28.70 - - - LRPPRC 0 genome.wustl.edu 37 2 44202316 44202316 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 44202316 44202316 C G SNP LRPPRC ENST00000260665 human ensembl 69_37n -1 known missense c.778 p.D260H 0.939 pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 210 0 0.00 146 34 18.78 - - - LRRC37A6P 0 genome.wustl.edu 37 10 27537777 27537777 + RNA SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 10 27537777 27537777 C T SNP LRRC37A6P ENST00000284414 human ensembl 69_37n -1 known rna NULL NULL 0.386 - - - no_errors LRRC37A6P HGNC ENSG00000230445 13 0 0.00 22 5 18.52 - - - LRRN2 0 genome.wustl.edu 37 1 204587427 204587427 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 204587427 204587427 C T SNP LRRN2 ENST00000367175 human ensembl 69_37n -1 known missense c.1694 p.R565Q 0.066 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRN2 HGNC ENSG00000170382 134 1 0.74 119 82 40.59 - - - LUZP1 0 genome.wustl.edu 37 1 23418627 23418627 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 23418627 23418627 C T SNP LUZP1 ENST00000302291 human ensembl 69_37n -1 known missense c.2128 p.D710N 0.020 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 393 0 0.00 266 83 23.71 - - - MAP3K1 0 genome.wustl.edu 37 5 56155605 56155605 + Frame_Shift_Del DEL C C - TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 5 56155605 56155605 C - DEL MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_del c.697 p.P233fs 0.424 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 89 0 0.00 56 36 39.13 - - - MAP3K9 0 genome.wustl.edu 37 14 71267708 71267708 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 14 71267708 71267708 C T SNP MAP3K9 ENST00000555993 human ensembl 69_37n -1 known missense c.496 p.D166N 0.884 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MAP3K9 HGNC ENSG00000006432 188 0 0.00 141 38 21.11 - - - MAST4 0 genome.wustl.edu 37 5 66084606 66084606 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 5 66084606 66084606 C T SNP MAST4 ENST00000404260 human ensembl 69_37n +1 known missense c.626 p.S209L 0.959 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC ENSG00000069020 41 0 0.00 29 12 29.27 - - - MB 0 genome.wustl.edu 37 22 36031017 36031017 + RNA SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 22 36031017 36031017 G A SNP MB ENST00000472240 human ensembl 69_37n -1 known rna NULL NULL 0.047 - - - no_errors MB HGNC ENSG00000198125 245 0 0.00 135 47 25.82 - - - MBOAT2 0 genome.wustl.edu 37 2 9000774 9000774 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 9000774 9000774 G C SNP MBOAT2 ENST00000305997 human ensembl 69_37n -1 known missense c.1306 p.L436V 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MBOAT_fam,superfamily_MFS_dom_general_subst_transpt - no_errors MBOAT2 HGNC ENSG00000143797 254 0 0.00 190 38 16.67 - - - MBTPS2 0 genome.wustl.edu 37 X 21900634 21900634 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 X 21900634 21900634 C G SNP MBTPS2 ENST00000379484 human ensembl 69_37n +1 known missense c.1421 p.S474C 1.000 pfam_Peptidase_M50 pfam_Peptidase_M50,superfamily_PDZ,prints_Pept_M50_SREBP - no_errors MBTPS2 HGNC ENSG00000012174 506 1 0.20 375 94 20.04 - - - MDN1 0 genome.wustl.edu 37 6 90381945 90381945 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 6 90381945 90381945 C T SNP MDN1 ENST00000369393 human ensembl 69_37n -1 known missense c.13768 p.E4590K 1.000 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 252 0 0.00 167 46 21.60 - - - ME2 0 genome.wustl.edu 37 18 48452266 48452266 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 18 48452266 48452266 G C SNP ME2 ENST00000321341 human ensembl 69_37n +1 known missense c.1312 p.E438Q 1.000 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME2 HGNC ENSG00000082212 152 0 0.00 104 22 17.46 - - - METTL17 0 genome.wustl.edu 37 14 21463019 21463019 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 14 21463019 21463019 G A SNP METTL17 ENST00000382985 human ensembl 69_37n +1 known missense c.835 p.E279K 0.111 pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11 pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11 - no_errors METTL17 HGNC ENSG00000165792 349 0 0.00 232 165 41.56 - - - MGAM 0 genome.wustl.edu 37 7 141705408 141705408 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 7 141705408 141705408 C T SNP MGAM ENST00000549489 human ensembl 69_37n +1 known silent c.78 p.I26 0.118 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 428 0 0.00 357 73 16.98 - - - MLC1 0 genome.wustl.edu 37 22 50512736 50512736 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 22 50512736 50512736 G C SNP MLC1 ENST00000311597 human ensembl 69_37n -1 known missense c.623 p.S208C 0.999 NULL NULL - no_errors MLC1 HGNC ENSG00000100427 81 0 0.00 80 12 13.04 - - - MLL3 0 genome.wustl.edu 37 7 151878971 151878971 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 7 151878971 151878971 C G SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known missense c.5974 p.E1992Q 0.996 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 198 0 0.00 140 49 25.93 - - - MLLT4 0 genome.wustl.edu 37 6 168307891 168307891 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 6 168307891 168307891 C G SNP MLLT4 ENST00000366806 human ensembl 69_37n +1 known missense c.1691 p.S564C 0.985 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 171 0 0.00 155 41 20.92 - - - MPPE1 0 genome.wustl.edu 37 18 11886744 11886744 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 18 11886744 11886744 G A SNP MPPE1 ENST00000588072 human ensembl 69_37n -1 known silent c.712 p.L238 0.000 NULL pfam_Metallo_PEstase_dom - no_errors MPPE1 HGNC ENSG00000154889 20 0 0.00 17 10 37.04 - - - MRVI1 0 genome.wustl.edu 37 11 10622555 10622555 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 11 10622555 10622555 G C SNP MRVI1 ENST00000421747 human ensembl 69_37n -1 known missense c.1900 p.L634V 1.000 pfam_MRVI1 pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 252 0 0.00 185 50 21.28 - - - MUC16 0 genome.wustl.edu 37 19 9045834 9045834 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 9045834 9045834 C T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.35797 p.E11933K 0.019 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 314 1 0.32 222 58 20.57 - - - MUC16 0 genome.wustl.edu 37 19 9075373 9075373 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 9075373 9075373 C T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.12073 p.D4025N 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 179 0 0.00 154 41 21.03 - - - MYO10 0 genome.wustl.edu 37 5 16670938 16670938 + Silent SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 5 16670938 16670938 G C SNP MYO10 ENST00000513610 human ensembl 69_37n -1 known silent c.5580 p.L1860 0.991 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 119 0 0.00 70 42 37.50 - - - MYO6 0 genome.wustl.edu 37 6 76576321 76576321 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 6 76576321 76576321 G C SNP MYO6 ENST00000369981 human ensembl 69_37n +1 known missense c.1753 p.A585P 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 349 0 0.00 176 99 36.00 - - - NAGPA 0 genome.wustl.edu 37 16 5075523 5075523 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 16 5075523 5075523 C G SNP NAGPA ENST00000312251 human ensembl 69_37n -1 known missense c.1504 p.E502Q 0.991 NULL pfam_DUF2233,pfscan_EG-like_dom - no_errors NAGPA HGNC ENSG00000103174 62 0 0.00 43 7 14.00 - - - NARF 0 genome.wustl.edu 37 17 80441612 80441612 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 17 80441612 80441612 G A SNP NARF ENST00000309794 human ensembl 69_37n +1 known missense c.790 p.E264K 1.000 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARF HGNC ENSG00000141562 242 0 0.00 144 46 24.21 - - - NBEAL1 0 genome.wustl.edu 37 2 203995183 203995183 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 203995183 203995183 G C SNP NBEAL1 ENST00000449802 human ensembl 69_37n +1 known missense c.3461 p.R1154T 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 235 0 0.00 302 49 13.92 - - - NCAPH2 0 genome.wustl.edu 37 22 50961305 50961305 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 22 50961305 50961305 G A SNP NCAPH2 ENST00000299821 human ensembl 69_37n +1 known missense c.1484 p.R495H 0.998 pfam_Condensin_II_H2-like pfam_Condensin_II_H2-like - no_errors NCAPH2 HGNC ENSG00000025770 37 0 0.00 43 7 14.00 - - - NCOA2 0 genome.wustl.edu 37 8 71069225 71069225 + Nonsense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 8 71069225 71069225 G A SNP NCOA2 ENST00000452400 human ensembl 69_37n -1 known nonsense c.1375 p.Q459* 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors NCOA2 HGNC ENSG00000140396 491 0 0.00 368 89 19.43 - - - NEBL 0 genome.wustl.edu 37 10 21134276 21134276 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 10 21134276 21134276 C G SNP NEBL ENST00000377122 human ensembl 69_37n -1 known missense c.1138 p.E380Q 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 351 0 0.00 251 71 22.05 - - - NEO1 0 genome.wustl.edu 37 15 73428332 73428332 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 15 73428332 73428332 G A SNP NEO1 ENST00000261908 human ensembl 69_37n +1 known missense c.979 p.E327K 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NEO1 HGNC ENSG00000067141 454 0 0.00 293 70 19.28 - - - NES 0 genome.wustl.edu 37 1 156640299 156640299 + Silent SNP C C A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 156640299 156640299 C A SNP NES ENST00000368223 human ensembl 69_37n -1 known silent c.3681 p.P1227 0.000 NULL pfam_F - no_errors NES HGNC ENSG00000132688 44 0 0.00 49 12 19.67 - - - NINJ2 0 genome.wustl.edu 37 12 675158 675158 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 12 675158 675158 G A SNP NINJ2 ENST00000305108 human ensembl 69_37n -1 known silent c.358 p.L120 1.000 pfam_Ninjurin pfam_Ninjurin - no_errors NINJ2 HGNC ENSG00000171840 155 0 0.00 125 27 17.76 - - - NKAP 0 genome.wustl.edu 37 X 119059227 119059227 + Nonsense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 X 119059227 119059227 G A SNP NKAP ENST00000371410 human ensembl 69_37n -1 known nonsense c.1204 p.R402* 1.000 pfam_DUF926 pfam_DUF926 - no_errors NKAP HGNC ENSG00000101882 379 0 0.00 228 164 41.73 - - - NME7 0 genome.wustl.edu 37 1 169102038 169102038 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 169102038 169102038 C G SNP NME7 ENST00000367811 human ensembl 69_37n -1 known missense c.1116 p.K372N 1.000 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK7 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase - no_errors NME7 HGNC ENSG00000143156 209 0 0.00 288 44 13.25 - - - NOP2 0 genome.wustl.edu 37 12 6677069 6677069 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 12 6677069 6677069 C G SNP NOP2 ENST00000322166 human ensembl 69_37n -1 known missense c.16 p.D6H 1.000 NULL pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC ENSG00000111641 79 0 0.00 52 23 30.67 - - - NRCAM 0 genome.wustl.edu 37 7 107820851 107820851 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 7 107820851 107820851 C T SNP NRCAM ENST00000379028 human ensembl 69_37n -1 known silent c.2667 p.Q889 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NRCAM HGNC ENSG00000091129 188 0 0.00 132 26 16.46 - - - NTAN1 0 genome.wustl.edu 37 16 15135525 15135525 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 16 15135525 15135525 C G SNP NTAN1 ENST00000287706 human ensembl 69_37n -1 known missense c.442 p.D148H 1.000 NULL NULL - no_errors NTAN1 HGNC ENSG00000157045 228 0 0.00 214 41 15.89 - - - NTSR1 0 genome.wustl.edu 37 20 61340967 61340967 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 20 61340967 61340967 C T SNP NTSR1 ENST00000370501 human ensembl 69_37n +1 known silent c.408 p.F136 0.982 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_NT_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_NT1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NT_rcpt,prints_P2_purnocptor - no_errors NTSR1 HGNC ENSG00000101188 32 0 0.00 23 9 28.12 - - - ODZ1 0 genome.wustl.edu 37 X 123556288 123556288 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 X 123556288 123556288 C T SNP ODZ1 ENST00000422452 human ensembl 69_37n -1 known silent c.4305 p.A1435 0.787 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD - no_errors ODZ1 HGNC ENSG00000009694 173 0 0.00 114 38 25.00 - - - ODZ3 0 genome.wustl.edu 37 4 183635307 183635307 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 4 183635307 183635307 G A SNP ODZ3 ENST00000406950 human ensembl 69_37n +1 known silent c.2289 p.V763 0.724 smart_EGF-like,pfscan_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ3 HGNC ENSG00000218336 159 0 0.00 126 27 17.65 - - - OFD1 0 genome.wustl.edu 37 X 13778539 13778539 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 X 13778539 13778539 C G SNP OFD1 ENST00000340096 human ensembl 69_37n +1 known missense c.1960 p.R654G 0.118 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 136 0 0.00 95 26 21.49 - - - OR1A1 0 genome.wustl.edu 37 17 3119721 3119721 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 17 3119721 3119721 C T SNP OR1A1 ENST00000304094 human ensembl 69_37n +1 known silent c.807 p.D269 0.002 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR1A1 HGNC ENSG00000172146 167 0 0.00 62 61 49.19 - - - OR1S2 0 genome.wustl.edu 37 11 57971065 57971065 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 11 57971065 57971065 G C SNP OR1S2 ENST00000302592 human ensembl 69_37n -1 known missense c.589 p.L197V 0.039 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR1S2 HGNC ENSG00000197887 543 0 0.00 114 244 67.97 - - - OR2T27 0 genome.wustl.edu 37 1 248813395 248813395 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 248813395 248813395 G C SNP OR2T27 ENST00000344889 human ensembl 69_37n -1 known missense c.791 p.S264C 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T27 HGNC ENSG00000187701 166 0 0.00 211 32 13.11 - - - PABPN1 0 genome.wustl.edu 37 14 23791462 23791462 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 14 23791462 23791462 G A SNP PABPN1 ENST00000216727 human ensembl 69_37n +1 known missense c.424 p.E142K 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PABPN1 HGNC ENSG00000100836 221 0 0.00 180 37 16.82 - - - PARP2 0 genome.wustl.edu 37 14 20824784 20824784 + Nonsense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 14 20824784 20824784 G A SNP PARP2 ENST00000250416 human ensembl 69_37n +1 known nonsense c.1304 p.W435* 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP2 HGNC ENSG00000129484 342 0 0.00 294 80 21.33 - - - PCDH18 0 genome.wustl.edu 37 4 138451272 138451272 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 4 138451272 138451272 G C SNP PCDH18 ENST00000344876 human ensembl 69_37n -1 known missense c.1971 p.I657M 0.634 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 87 0 0.00 56 13 18.84 - - - PCDHA9 0 genome.wustl.edu 37 5 140229695 140229695 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 5 140229695 140229695 G A SNP PCDHA9 ENST00000532602 human ensembl 69_37n +1 known missense c.1615 p.D539N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 34 0 0.00 19 19 50.00 - - - PDSS1 0 genome.wustl.edu 37 10 26994296 26994296 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 10 26994296 26994296 G C SNP PDSS1 ENST00000376215 human ensembl 69_37n +1 known missense c.309 p.L103F 1.000 superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS1 HGNC ENSG00000148459 233 0 0.00 195 38 16.31 - - - PEG3 0 genome.wustl.edu 37 19 57325872 57325872 + Missense_Mutation SNP G G T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 57325872 57325872 G T SNP PEG3 ENST00000326441 human ensembl 69_37n -1 known missense c.3938 p.S1313Y 0.024 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 312 1 0.32 210 68 24.46 - - - PEG3 0 genome.wustl.edu 37 19 57327380 57327380 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 57327380 57327380 G A SNP PEG3 ENST00000326441 human ensembl 69_37n -1 known silent c.2430 p.F810 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 169 0 0.00 148 35 19.13 - - - PGM2L1 0 genome.wustl.edu 37 11 74062496 74062496 + Silent SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 11 74062496 74062496 C G SNP PGM2L1 ENST00000298198 human ensembl 69_37n -1 known silent c.681 p.L227 1.000 superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III - no_errors PGM2L1 HGNC ENSG00000165434 249 0 0.00 219 33 13.04 - - - PHC2 0 genome.wustl.edu 37 1 33834190 33834190 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 33834190 33834190 C G SNP PHC2 ENST00000419414 human ensembl 69_37n -1 known missense c.610 p.V204L 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 22 0 0.00 10 9 47.37 - - - PIK3R1 0 genome.wustl.edu 37 5 67592087 67592087 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 5 67592087 67592087 G A SNP PIK3R1 ENST00000396611 human ensembl 69_37n +1 known missense c.1927 p.E643K 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 325 2 0.61 247 64 20.58 - - - PKP4 0 genome.wustl.edu 37 2 159537087 159537087 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 159537087 159537087 G A SNP PKP4 ENST00000389759 human ensembl 69_37n +1 known silent c.3477 p.Q1159 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 317 0 0.00 218 39 15.18 - - - PLCXD3 0 genome.wustl.edu 37 5 41382448 41382448 + Nonsense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 5 41382448 41382448 G A SNP PLCXD3 ENST00000328457 human ensembl 69_37n -1 known nonsense c.292 p.R98* 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD3 HGNC ENSG00000182836 165 0 0.00 128 36 21.95 - - - PLXNA4 0 genome.wustl.edu 37 7 132174147 132174147 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 7 132174147 132174147 G A SNP PLXNA4 ENST00000321063 human ensembl 69_37n -1 known silent c.1275 p.F425 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC ENSG00000221866 157 1 0.63 139 27 16.27 - - - POLQ 0 genome.wustl.edu 37 3 121228970 121228970 + Nonsense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 3 121228970 121228970 G A SNP POLQ ENST00000264233 human ensembl 69_37n -1 known nonsense c.1732 p.Q578* 0.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 313 0 0.00 230 57 19.86 - - - POLR1A 0 genome.wustl.edu 37 2 86258620 86258620 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 86258620 86258620 C G SNP POLR1A ENST00000263857 human ensembl 69_37n -1 known missense c.4411 p.E1471Q 0.986 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 249 1 0.40 205 43 17.34 - - - PPP1R36 0 genome.wustl.edu 37 14 65041213 65041213 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 14 65041213 65041213 G A SNP PPP1R36 ENST00000298705 human ensembl 69_37n +1 known missense c.574 p.E192K 0.775 NULL NULL - no_errors PPP1R36 HGNC ENSG00000165807 221 0 0.00 190 28 12.79 - - - PRKCG 0 genome.wustl.edu 37 19 54407909 54407909 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 54407909 54407909 C T SNP PRKCG ENST00000540413 human ensembl 69_37n +1 known silent c.1677 p.D559 0.986 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCG HGNC ENSG00000126583 104 1 0.95 59 52 46.85 - - - PRKD2 0 genome.wustl.edu 37 19 47201003 47201003 + Missense_Mutation SNP T T A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 47201003 47201003 T A SNP PRKD2 ENST00000291281 human ensembl 69_37n -1 known missense c.1226 p.N409I 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_DAG/PE-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors PRKD2 HGNC ENSG00000105287 51 0 0.00 34 13 27.66 - - - PROKR1 0 genome.wustl.edu 37 2 68873196 68873196 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 68873196 68873196 C T SNP PROKR1 ENST00000303786 human ensembl 69_37n +1 known silent c.243 p.F81 0.974 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors PROKR1 HGNC ENSG00000169618 197 0 0.00 243 38 13.52 - - - PSEN1 0 genome.wustl.edu 37 14 73637628 73637628 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 14 73637628 73637628 G A SNP PSEN1 ENST00000324501 human ensembl 69_37n +1 known missense c.211 p.E71K 1.000 pfam_Peptidase_A22A,prints_Pept_A22A_PS1 pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A - no_errors PSEN1 HGNC ENSG00000080815 249 0 0.00 199 33 14.10 - - - PSG7 0 genome.wustl.edu 37 19 43433598 43433598 + Silent SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 43433598 43433598 G C SNP PSG7 ENST00000406070 human ensembl 69_37n -1 known silent c.705 p.L235 0.498 NULL NULL - pseudogene PSG7 HGNC ENSG00000221878 215 0 0.00 234 62 20.95 - - - PSMD2 0 genome.wustl.edu 37 3 184019425 184019425 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 3 184019425 184019425 C T SNP PSMD2 ENST00000310118 human ensembl 69_37n +1 known missense c.458 p.S153L 0.999 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 188 0 0.00 138 58 29.59 - - - PTPRC 0 genome.wustl.edu 37 1 198711494 198711494 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 198711494 198711494 G A SNP PTPRC ENST00000367376 human ensembl 69_37n +1 known missense c.2695 p.E899K 1.000 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 421 1 0.24 481 170 26.11 - - - PUS1 0 genome.wustl.edu 37 12 132426061 132426061 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 12 132426061 132426061 C T SNP PUS1 ENST00000376649 human ensembl 69_37n +1 known missense c.769 p.P257S 1.000 pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA - no_errors PUS1 HGNC ENSG00000177192 170 0 0.00 123 28 18.42 - - - PYGB 0 genome.wustl.edu 37 20 25229006 25229006 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 20 25229006 25229006 C T SNP PYGB ENST00000216962 human ensembl 69_37n +1 known silent c.192 p.L64 1.000 pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 23 0 0.00 18 7 28.00 - - - RALGAPB 0 genome.wustl.edu 37 20 37117154 37117154 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 20 37117154 37117154 G A SNP RALGAPB ENST00000262879 human ensembl 69_37n +1 known missense c.79 p.E27K 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPB HGNC ENSG00000170471 398 0 0.00 313 76 19.54 - - - RANBP17 0 genome.wustl.edu 37 5 170722917 170722917 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 5 170722917 170722917 G A SNP RANBP17 ENST00000523189 human ensembl 69_37n +1 known silent c.3069 p.L1023 0.999 NULL pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 251 0 0.00 185 41 18.06 - - - RASAL3 0 genome.wustl.edu 37 19 15563564 15563564 + Silent SNP G G T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 15563564 15563564 G T SNP RASAL3 ENST00000343625 human ensembl 69_37n -1 known silent c.2733 p.L911 0.954 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC ENSG00000105122 32 0 0.00 18 6 25.00 - - - RBM12 0 genome.wustl.edu 37 20 34241075 34241075 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 20 34241075 34241075 G A SNP RBM12 ENST00000359646 human ensembl 69_37n -1 known missense c.2170 p.P724S 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC ENSG00000244462 15 0 0.00 7 4 36.36 - - - RBM25 0 genome.wustl.edu 37 14 73570127 73570127 + Silent SNP A A G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 14 73570127 73570127 A G SNP RBM25 ENST00000261973 human ensembl 69_37n +1 known silent c.1095 p.R365 1.000 NULL pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 177 0 0.00 226 59 20.70 - - - RBP1 0 genome.wustl.edu 37 3 139244741 139244741 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 3 139244741 139244741 C T SNP RBP1 ENST00000483943 human ensembl 69_37n -1 putative missense c.442 p.E148K 0.000 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors RBP1 HGNC ENSG00000114115 193 0 0.00 166 36 17.82 - - - RBP1 0 genome.wustl.edu 37 3 139258551 139258551 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 3 139258551 139258551 G A SNP RBP1 ENST00000232219 human ensembl 69_37n -1 known missense c.10 p.P4S 0.987 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors RBP1 HGNC ENSG00000114115 11 0 0.00 6 8 57.14 - - - RCHY1 0 genome.wustl.edu 37 4 76415808 76415808 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 4 76415808 76415808 G C SNP RCHY1 ENST00000324439 human ensembl 69_37n -1 known missense c.640 p.Q214E 1.000 NULL pfam_Znf_CHY,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RCHY1 HGNC ENSG00000163743 361 0 0.00 269 58 17.74 - - - REM1 0 genome.wustl.edu 37 20 30064441 30064441 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 20 30064441 30064441 G A SNP REM1 ENST00000201979 human ensembl 69_37n +1 known missense c.193 p.D65N 0.000 pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors REM1 HGNC ENSG00000088320 245 0 0.00 166 56 25.23 - - - REV3L 0 genome.wustl.edu 37 6 111695851 111695851 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 6 111695851 111695851 C G SNP REV3L ENST00000358835 human ensembl 69_37n -1 known missense c.3707 p.G1236A 0.881 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 164 0 0.00 109 64 36.78 - - - RHOT1 0 genome.wustl.edu 37 17 30500868 30500868 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 17 30500868 30500868 G C SNP RHOT1 ENST00000358365 human ensembl 69_37n +1 known missense c.115 p.E39Q 1.000 pfam_MIRO-like,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_Miro,tigrfam_Small_GTP-bd_dom pfam_MIRO-like,pfam_EF_hand_assoc_2,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_EF_hand_Ca-bd,pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOT1 HGNC ENSG00000126858 214 0 0.00 112 35 23.49 - - - RHOT1 0 genome.wustl.edu 37 17 30551656 30551656 + Silent SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 17 30551656 30551656 C G SNP RHOT1 ENST00000358365 human ensembl 69_37n +1 known silent c.1980 p.L660 1.000 NULL pfam_MIRO-like,pfam_EF_hand_assoc_2,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_EF_hand_Ca-bd,pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOT1 HGNC ENSG00000126858 369 1 0.27 221 89 28.62 - - - RNASE11 0 genome.wustl.edu 37 14 21052286 21052286 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 14 21052286 21052286 C G SNP RNASE11 ENST00000335950 human ensembl 69_37n -1 known missense c.348 p.W116C 0.000 pfam_RNaseA_domain,superfamily_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE11 HGNC ENSG00000173464 205 0 0.00 154 44 22.00 - - - RNF157 0 genome.wustl.edu 37 17 74154505 74154505 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 17 74154505 74154505 G A SNP RNF157 ENST00000269391 human ensembl 69_37n -1 known missense c.1382 p.S461F 0.432 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF157 HGNC ENSG00000141576 147 0 0.00 65 26 28.26 - - - RNF43 0 genome.wustl.edu 37 17 56435317 56435317 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 17 56435317 56435317 G A SNP RNF43 ENST00000407977 human ensembl 69_37n -1 known missense c.1820 p.S607L 0.095 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 181 0 0.00 87 27 23.68 - - - RPAP1 0 genome.wustl.edu 37 15 41821754 41821754 + Nonsense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 15 41821754 41821754 G A SNP RPAP1 ENST00000304330 human ensembl 69_37n -1 known nonsense c.1072 p.R358* 1.000 pfam_RNA_pol_II_AP1_C pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 125 0 0.00 112 25 18.12 - - - RPAP3 0 genome.wustl.edu 37 12 48062806 48062806 + Nonsense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 12 48062806 48062806 G A SNP RPAP3 ENST00000005386 human ensembl 69_37n -1 known nonsense c.1606 p.Q536* 0.032 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors RPAP3 HGNC ENSG00000005175 539 0 0.00 358 88 19.73 - - - RPL10 0 genome.wustl.edu 37 X 153628919 153628919 + Silent SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 X 153628919 153628919 G C SNP RPL10 ENST00000344746 human ensembl 69_37n +1 known silent c.444 p.V148 1.000 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10 HGNC ENSG00000147403 196 1 0.51 162 48 22.86 - - - RRN3P1 0 genome.wustl.edu 37 16 21812131 21812131 + RNA SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 16 21812131 21812131 G C SNP RRN3P1 ENST00000546471 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors RRN3P1 HGNC ENSG00000248124 107 0 0.00 61 19 23.75 - - - RRNAD1 0 genome.wustl.edu 37 1 156699007 156699007 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 156699007 156699007 C G SNP RRNAD1 ENST00000368216 human ensembl 69_37n +1 known missense c.111 p.I37M 1.000 NULL NULL - no_errors RRNAD1 HGNC ENSG00000143303 122 0 0.00 139 17 10.90 - - - RSPH4A 0 genome.wustl.edu 37 6 116938343 116938343 + Nonsense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 6 116938343 116938343 C G SNP RSPH4A ENST00000229554 human ensembl 69_37n +1 known nonsense c.557 p.S186* 0.003 NULL pfam_Radial_spoke - no_errors RSPH4A HGNC ENSG00000111834 181 0 0.00 170 41 19.25 - - - RUSC1 0 genome.wustl.edu 37 1 155294933 155294933 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 155294933 155294933 C T SNP RUSC1 ENST00000368352 human ensembl 69_37n +1 known silent c.1497 p.I499 1.000 NULL pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 176 0 0.00 186 28 13.08 - - - SCAF11 0 genome.wustl.edu 37 12 46321241 46321241 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 12 46321241 46321241 G A SNP SCAF11 ENST00000369367 human ensembl 69_37n -1 known missense c.2243 p.S748F 0.069 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 259 0 0.00 255 51 16.67 - - - SCN5A 0 genome.wustl.edu 37 3 38627460 38627460 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 3 38627460 38627460 C T SNP SCN5A ENST00000333535 human ensembl 69_37n -1 known missense c.2509 p.G837R 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 266 0 0.00 228 56 19.72 - - - SCN8A 0 genome.wustl.edu 37 12 52180367 52180367 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 12 52180367 52180367 G A SNP SCN8A ENST00000354534 human ensembl 69_37n +1 known missense c.3984 p.M1328I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 217 0 0.00 202 40 16.39 - - - SDAD1 0 genome.wustl.edu 37 4 76888470 76888470 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 4 76888470 76888470 G C SNP SDAD1 ENST00000356260 human ensembl 69_37n -1 known missense c.1005 p.F335L 1.000 superfamily_ARM-type_fold pfam_SDA1,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold - no_errors SDAD1 HGNC ENSG00000198301 180 0 0.00 126 29 18.71 - - - SEPT7P2 0 genome.wustl.edu 37 7 45767779 45767779 + RNA SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 7 45767779 45767779 C T SNP SEPT7P2 ENST00000338231 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors SEPT7P2 HGNC ENSG00000214765 248 0 0.00 209 63 23.16 - - - SGK2 0 genome.wustl.edu 37 20 42195143 42195143 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 20 42195143 42195143 C G SNP SGK2 ENST00000341458 human ensembl 69_37n +1 known missense c.188 p.S63C 0.954 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors SGK2 HGNC ENSG00000101049 170 0 0.00 114 32 21.77 - - - SH3D19 0 genome.wustl.edu 37 4 152056281 152056281 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 4 152056281 152056281 C T SNP SH3D19 ENST00000304527 human ensembl 69_37n -1 known missense c.1660 p.D554N 1.000 superfamily_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_SH3_domain - no_errors SH3D19 HGNC ENSG00000109686 245 0 0.00 179 31 14.76 - - - SH3TC2 0 genome.wustl.edu 37 5 148417943 148417943 + Nonsense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 5 148417943 148417943 G A SNP SH3TC2 ENST00000515425 human ensembl 69_37n -1 known nonsense c.916 p.Q306* 0.915 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_TPR-1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 179 0 0.00 155 32 17.11 - - - SLC17A8 0 genome.wustl.edu 37 12 100813924 100813924 + Nonsense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 12 100813924 100813924 C G SNP SLC17A8 ENST00000323346 human ensembl 69_37n +1 known nonsense c.1757 p.S586* 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC ENSG00000179520 150 0 0.00 99 27 21.43 - - - SLC23A3 0 genome.wustl.edu 37 2 220032957 220032957 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 220032957 220032957 G A SNP SLC23A3 ENST00000455516 human ensembl 69_37n -1 known missense c.782 p.S261L 0.013 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A3 HGNC ENSG00000213901 105 0 0.00 53 41 43.62 - - - SLC25A22 0 genome.wustl.edu 37 11 792383 792383 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 11 792383 792383 C G SNP SLC25A22 ENST00000320230 human ensembl 69_37n -1 known missense c.663 p.E221D 0.811 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A22 HGNC ENSG00000177542 55 0 0.00 44 6 12.00 - - - SLC25A36 0 genome.wustl.edu 37 3 140695209 140695209 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 3 140695209 140695209 C T SNP SLC25A36 ENST00000324194 human ensembl 69_37n +1 known silent c.850 p.L284 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling - no_errors SLC25A36 HGNC ENSG00000114120 278 0 0.00 243 57 18.87 - - - SLC25A6 0 genome.wustl.edu 37 X 1508405 1508405 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 X 1508405 1508405 G A SNP SLC25A6 ENST00000381401 human ensembl 69_37n -1 known silent c.327 p.F109 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A6 HGNC ENSG00000169100 252 0 0.00 217 34 13.49 - - - SLC26A5 0 genome.wustl.edu 37 7 103020959 103020959 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 7 103020959 103020959 C T SNP SLC26A5 ENST00000306312 human ensembl 69_37n -1 known missense c.1552 p.D518N 0.999 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A5 HGNC ENSG00000170615 307 0 0.00 258 56 17.83 - - - SLC30A5 0 genome.wustl.edu 37 5 68410315 68410315 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 5 68410315 68410315 G A SNP SLC30A5 ENST00000396591 human ensembl 69_37n +1 known missense c.604 p.D202N 1.000 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC ENSG00000145740 270 0 0.00 239 56 18.98 - - - SLC34A2 0 genome.wustl.edu 37 4 25677836 25677836 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 4 25677836 25677836 G A SNP SLC34A2 ENST00000382051 human ensembl 69_37n +1 known missense c.1538 p.R513H 1.000 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 232 0 0.00 151 85 35.86 - - - SLC39A5 0 genome.wustl.edu 37 12 56626564 56626564 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 12 56626564 56626564 C T SNP SLC39A5 ENST00000266980 human ensembl 69_37n +1 known missense c.379 p.H127Y 0.000 NULL pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 75 0 0.00 99 12 10.81 - - - SLC41A1 0 genome.wustl.edu 37 1 205779276 205779276 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 205779276 205779276 G A SNP SLC41A1 ENST00000367137 human ensembl 69_37n -1 known silent c.294 p.I98 0.975 NULL pfam_MgtE_Mg_transptr_membr - no_errors SLC41A1 HGNC ENSG00000133065 216 0 0.00 267 60 18.29 - - - SMC4 0 genome.wustl.edu 37 3 160122246 160122246 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 3 160122246 160122246 G A SNP SMC4 ENST00000344722 human ensembl 69_37n +1 known missense c.641 p.R214Q 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 166 0 0.00 130 39 23.08 - - - SPN 0 genome.wustl.edu 37 16 29675524 29675524 + Nonsense_Mutation SNP G G T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 16 29675524 29675524 G T SNP SPN ENST00000360121 human ensembl 69_37n +1 known nonsense c.475 p.E159* 0.042 NULL NULL - no_errors SPN HGNC ENSG00000197471 146 0 0.00 109 23 17.42 - - - ST6GALNAC1 0 genome.wustl.edu 37 17 74623561 74623561 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 17 74623561 74623561 C G SNP ST6GALNAC1 ENST00000156626 human ensembl 69_37n -1 known missense c.936 p.Q312H 0.687 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 144 0 0.00 96 34 26.15 - - - ST8SIA3 0 genome.wustl.edu 37 18 55020080 55020080 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 18 55020080 55020080 G A SNP ST8SIA3 ENST00000324000 human ensembl 69_37n +1 known missense c.3 p.M1I 1.000 NULL pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA3 HGNC ENSG00000177511 69 0 0.00 43 19 30.16 - - - STAP2 0 genome.wustl.edu 37 19 4325220 4325220 + Silent SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 4325220 4325220 G C SNP STAP2 ENST00000314714 human ensembl 69_37n -1 known silent c.1065 p.P355 0.812 NULL pfscan_SH2 - no_errors STAP2 HGNC ENSG00000178078 112 0 0.00 88 24 20.87 - - - STXBP5 0 genome.wustl.edu 37 6 147684754 147684754 + Silent SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 6 147684754 147684754 G C SNP STXBP5 ENST00000321680 human ensembl 69_37n +1 known silent c.2829 p.S943 0.009 pfam_Lgl_C,superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 171 0 0.00 157 26 14.13 - - - SUGT1P3 0 genome.wustl.edu 37 13 41495642 41495642 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 13 41495642 41495642 G A SNP SUGT1P3 ENST00000494063 human ensembl 69_37n -1 known silent c.64 p.L22 0.942 NULL pfscan_TPR-contain_dom - no_errors SUGT1P3 HGNC ENSG00000239827 114 1 0.85 100 21 17.36 - - - SYNE1 0 genome.wustl.edu 37 6 152650988 152650988 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 6 152650988 152650988 C T SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known silent c.14832 p.L4944 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 439 1 0.23 369 70 15.95 - - - SZT2 0 genome.wustl.edu 37 1 43892993 43892993 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 43892993 43892993 C G SNP SZT2 ENST00000562955 human ensembl 69_37n +1 known missense c.3304 p.Q1102E 0.995 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 93 0 0.00 70 20 22.22 - - - TAAR2 0 genome.wustl.edu 37 6 132939037 132939037 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 6 132939037 132939037 C G SNP TAAR2 ENST00000367931 human ensembl 69_37n -1 known missense c.308 p.R103T 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Trace_amine_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Trace_amine_rcpt - no_errors TAAR2 HGNC ENSG00000146378 253 1 0.39 183 53 22.46 - - - TBC1D4 0 genome.wustl.edu 37 13 75866384 75866384 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 13 75866384 75866384 C T SNP TBC1D4 ENST00000377636 human ensembl 69_37n -1 known missense c.3340 p.E1114K 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 159 0 0.00 73 55 42.97 - - - TBL1XR1 0 genome.wustl.edu 37 3 176769295 176769296 + Frame_Shift_Ins INS - - TA TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 3 176769295 176769296 - TA INS TBL1XR1 ENST00000430069 human ensembl 69_37n -1 known frame_shift_ins c.424_423 p.A141fs 1.000:1.000 NULL pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL1XR1 HGNC ENSG00000177565 271 0 0.00 140 66 32.04 - - - TDRD5 0 genome.wustl.edu 37 1 179632576 179632576 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 1 179632576 179632576 G C SNP TDRD5 ENST00000444136 human ensembl 69_37n +1 known missense c.2599 p.E867Q 0.720 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 247 0 0.00 353 62 14.90 - - - THOC2 0 genome.wustl.edu 37 X 122771967 122771967 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 X 122771967 122771967 G C SNP THOC2 ENST00000245838 human ensembl 69_37n -1 known missense c.1848 p.I616M 1.000 pfam_THO_THOC2_N pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 285 0 0.00 243 66 21.36 - - - TIPARP 0 genome.wustl.edu 37 3 156422677 156422677 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 3 156422677 156422677 G C SNP TIPARP ENST00000295924 human ensembl 69_37n +1 known missense c.1731 p.K577N 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors TIPARP HGNC ENSG00000163659 151 0 0.00 100 32 24.24 - - - TJP3 0 genome.wustl.edu 37 19 3750636 3750636 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 3750636 3750636 C T SNP TJP3 ENST00000262968 human ensembl 69_37n +1 known missense c.2813 p.S938F 0.997 NULL pfam_PDZ,pfam_SH3_2,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 259 0 0.00 204 43 17.41 - - - TLR4 0 genome.wustl.edu 37 9 120474783 120474783 + Nonsense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 9 120474783 120474783 C G SNP TLR4 ENST00000355622 human ensembl 69_37n +1 known nonsense c.377 p.S126* 0.000 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 171 0 0.00 111 26 18.84 - - - TMIGD2 0 genome.wustl.edu 37 19 4292689 4292689 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 4292689 4292689 G A SNP TMIGD2 ENST00000301272 human ensembl 69_37n -1 known silent c.756 p.P252 0.000 NULL smart_Ig_sub,pfscan_Ig-like - no_errors TMIGD2 HGNC ENSG00000167664 101 0 0.00 39 30 42.86 - - - TNFSF13B 0 genome.wustl.edu 37 13 108922524 108922524 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 13 108922524 108922524 G A SNP TNFSF13B ENST00000375887 human ensembl 69_37n +1 known missense c.281 p.G94E 0.000 NULL pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF - no_errors TNFSF13B HGNC ENSG00000102524 39 0 0.00 29 12 28.57 - - - TPCN1 0 genome.wustl.edu 37 12 113704123 113704123 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 12 113704123 113704123 G A SNP TPCN1 ENST00000541517 human ensembl 69_37n +1 known missense c.592 p.E198K 1.000 NULL pfam_Ion_trans_dom - no_errors TPCN1 HGNC ENSG00000186815 46 0 0.00 44 9 16.98 - - - TRIM24 0 genome.wustl.edu 37 7 138210052 138210052 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 7 138210052 138210052 G A SNP TRIM24 ENST00000343526 human ensembl 69_37n +1 known silent c.831 p.L277 0.999 smart_Bbox_C pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM24 HGNC ENSG00000122779 152 0 0.00 120 31 20.53 - - - TSPAN17 0 genome.wustl.edu 37 5 176081937 176081937 + Nonsense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 5 176081937 176081937 C G SNP TSPAN17 ENST00000507471 human ensembl 69_37n +1 putative nonsense c.296 p.S99* 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TSPAN17 HGNC ENSG00000048140 112 0 0.00 62 21 25.30 - - - TSPAN7 0 genome.wustl.edu 37 X 38420832 38420832 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 X 38420832 38420832 G A SNP TSPAN7 ENST00000378482 human ensembl 69_37n +1 known silent c.33 p.V11 1.000 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN7 HGNC ENSG00000156298 105 0 0.00 78 19 19.59 - - - TTN 0 genome.wustl.edu 37 2 179483183 179483183 + Nonsense_Mutation SNP C C A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 179483183 179483183 C A SNP TTN ENST00000342992 human ensembl 69_37n -1 known nonsense c.39298 p.E13100* 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 105 0 0.00 106 26 19.70 - - - TTN 0 genome.wustl.edu 37 2 179483357 179483357 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 179483357 179483357 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.39216 p.Q13072H 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 483 0 0.00 399 53 11.73 - - - TTN 0 genome.wustl.edu 37 2 179640575 179640575 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 179640575 179640575 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.6016 p.E2006Q 1.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 174 0 0.00 161 40 19.90 - - - UBE4A 0 genome.wustl.edu 37 11 118255641 118255642 + Frame_Shift_Del DEL TT TT - TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 11 118255641 118255642 TT - DEL UBE4A ENST00000431736 human ensembl 69_37n +1 known frame_shift_del c.2414_2415 p.L806fs 1.000:0.986 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4A HGNC ENSG00000110344 118 0 0.00 29 49 62.82 - - - UGT2B11 0 genome.wustl.edu 37 4 70070294 70070294 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 4 70070294 70070294 G A SNP UGT2B11 ENST00000446444 human ensembl 69_37n -1 known silent c.1164 p.I388 0.993 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B11 HGNC ENSG00000213759 413 0 0.00 347 43 11.00 - - - UGT2B15 0 genome.wustl.edu 37 4 69536210 69536210 + Missense_Mutation SNP G G T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 4 69536210 69536210 G T SNP UGT2B15 ENST00000338206 human ensembl 69_37n -1 known missense c.127 p.L43M 0.974 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ENSG00000196620 204 0 0.00 102 87 46.03 - - - ULBP3 0 genome.wustl.edu 37 6 150387087 150387087 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 6 150387087 150387087 C G SNP ULBP3 ENST00000367339 human ensembl 69_37n -1 known missense c.300 p.Q100H 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP3 HGNC ENSG00000131019 318 1 0.31 230 58 20.14 - - - UNC13C 0 genome.wustl.edu 37 15 54307326 54307326 + Missense_Mutation SNP G G T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 15 54307326 54307326 G T SNP UNC13C ENST00000260323 human ensembl 69_37n +1 known missense c.2226 p.Q742H 0.103 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 75 0 0.00 49 31 38.75 - - - URB1 0 genome.wustl.edu 37 21 33732208 33732208 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 21 33732208 33732208 G C SNP URB1 ENST00000382751 human ensembl 69_37n -1 known missense c.1766 p.S589C 0.700 NULL pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC ENSG00000142207 51 0 0.00 34 26 43.33 - - - USP20 0 genome.wustl.edu 37 9 132637592 132637592 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 9 132637592 132637592 G A SNP USP20 ENST00000315480 human ensembl 69_37n +1 known silent c.2052 p.K684 1.000 pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP20 HGNC ENSG00000136878 28 0 0.00 25 6 19.35 - - - VPS54 0 genome.wustl.edu 37 2 64148438 64148438 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 64148438 64148438 C G SNP VPS54 ENST00000272322 human ensembl 69_37n -1 known missense c.1771 p.E591Q 1.000 NULL pfam_Vps54,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS54 HGNC ENSG00000143952 207 0 0.00 143 27 15.88 - - - VWCE 0 genome.wustl.edu 37 11 61026446 61026446 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 11 61026446 61026446 G C SNP VWCE ENST00000335613 human ensembl 69_37n -1 known missense c.2569 p.L857V 0.978 NULL pfam_VWF_C,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC ENSG00000167992 85 0 0.00 24 17 41.46 - - - WASL 0 genome.wustl.edu 37 7 123324635 123324635 + Splice_Site SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 7 123324635 123324635 C G SNP WASL ENST00000223023 human ensembl 69_37n -1 known splice_site c.1457-1 e11-1 1.000 - - - no_errors WASL HGNC ENSG00000106299 297 0 0.00 234 47 16.73 - - - WDFY2 0 genome.wustl.edu 37 13 52325491 52325491 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 13 52325491 52325491 G A SNP WDFY2 ENST00000298125 human ensembl 69_37n +1 known silent c.771 p.L257 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY2 HGNC ENSG00000139668 407 1 0.24 313 64 16.98 - - - WDR45L 0 genome.wustl.edu 37 17 80583301 80583301 + Nonsense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 17 80583301 80583301 G A SNP WDR45L ENST00000392325 human ensembl 69_37n -1 known nonsense c.391 p.Q131* 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45L HGNC ENSG00000141580 285 0 0.00 158 50 23.92 - - - WDR7 0 genome.wustl.edu 37 18 54606599 54606599 + Nonsense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 18 54606599 54606599 C T SNP WDR7 ENST00000254442 human ensembl 69_37n +1 known nonsense c.4039 p.Q1347* 1.000 NULL pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 129 0 0.00 117 31 20.95 - - - WFDC11 0 genome.wustl.edu 37 20 44279195 44279195 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 20 44279195 44279195 G C SNP WFDC11 ENST00000324384 human ensembl 69_37n -1 known missense c.45 p.F15L 0.000 NULL NULL - no_errors WFDC11 HGNC ENSG00000180083 608 0 0.00 470 105 18.26 - - - WIPF2 0 genome.wustl.edu 37 17 38421179 38421179 + Missense_Mutation SNP C C A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 17 38421179 38421179 C A SNP WIPF2 ENST00000323571 human ensembl 69_37n +1 known missense c.751 p.P251T 1.000 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF2 HGNC ENSG00000171475 126 0 0.00 101 14 12.17 - - - WIPF2 0 genome.wustl.edu 37 17 38421273 38421273 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 17 38421273 38421273 C G SNP WIPF2 ENST00000323571 human ensembl 69_37n +1 known missense c.845 p.S282C 1.000 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF2 HGNC ENSG00000171475 76 0 0.00 69 10 12.66 - - - WT1 0 genome.wustl.edu 37 11 32414250 32414250 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 11 32414250 32414250 C T SNP WT1 ENST00000332351 human ensembl 69_37n -1 known missense c.1301 p.R434H 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,prints_Wilms_tumour,pfscan_Znf_C2H2 - no_errors WT1 HGNC ENSG00000184937 331 0 0.00 180 142 43.96 - - - XIRP2 0 genome.wustl.edu 37 2 167760155 167760155 + Nonsense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 167760155 167760155 C T SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known nonsense c.163 p.Q55* 0.015 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 180 0 0.00 155 39 20.00 - - - YIPF6 0 genome.wustl.edu 37 X 67742612 67742612 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 X 67742612 67742612 C G SNP YIPF6 ENST00000462683 human ensembl 69_37n +1 known missense c.445 p.Q149E 1.000 pfam_Yip1 pfam_Yip1 - no_errors YIPF6 HGNC ENSG00000181704 560 0 0.00 489 104 17.54 - - - ZBTB44 0 genome.wustl.edu 37 11 130131407 130131407 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 11 130131407 130131407 G A SNP ZBTB44 ENST00000357899 human ensembl 69_37n -1 known missense c.362 p.S121L 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB44 HGNC ENSG00000196323 176 0 0.00 61 39 39.00 - - - ZDBF2 0 genome.wustl.edu 37 2 207170370 207170370 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 2 207170370 207170370 C T SNP ZDBF2 ENST00000374423 human ensembl 69_37n +1 known missense c.1118 p.S373L 0.981 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 227 0 0.00 199 96 32.54 - - - ZFP92 0 genome.wustl.edu 37 X 152686582 152686582 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 X 152686582 152686582 C T SNP ZFP92 ENST00000338647 human ensembl 69_37n +1 known silent c.747 p.F249 0.508 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 ZFP92 HGNC ENSG00000189420 36 0 0.00 23 12 34.29 - - - ZFR 0 genome.wustl.edu 37 5 32364313 32364313 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 5 32364313 32364313 C T SNP ZFR ENST00000265069 human ensembl 69_37n -1 known silent c.2904 p.L968 0.997 pfam_DZF,smart_DZF pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 174 0 0.00 110 21 15.91 - - - ZNF135 0 genome.wustl.edu 37 19 58578710 58578710 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 58578710 58578710 C T SNP ZNF135 ENST00000391699 human ensembl 69_37n +1 putative missense c.911 p.S304F 0.755 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_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZNF135 HGNC ENSG00000176293 135 0 0.00 155 44 22.11 - - - ZNF143 0 genome.wustl.edu 37 11 9546936 9546936 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 11 9546936 9546936 G A SNP ZNF143 ENST00000447186 human ensembl 69_37n +1 putative missense c.412 p.E138K 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZNF143 HGNC ENSG00000166478 322 0 0.00 249 76 23.38 - - - ZNF230 0 genome.wustl.edu 37 19 44512960 44512960 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 44512960 44512960 G A SNP ZNF230 ENST00000429154 human ensembl 69_37n +1 known missense c.34 p.D12N 0.769 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF230 HGNC ENSG00000159882 556 0 0.00 570 103 15.28 - - - ZNF34 0 genome.wustl.edu 37 8 145999827 145999827 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 8 145999827 145999827 C T SNP ZNF34 ENST00000343459 human ensembl 69_37n -1 known silent c.507 p.L169 0.008 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF34 HGNC ENSG00000196378 180 0 0.00 85 57 40.14 - - - ZNF345 0 genome.wustl.edu 37 19 37368413 37368413 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 37368413 37368413 G C SNP ZNF345 ENST00000420450 human ensembl 69_37n +1 known missense c.681 p.E227D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF345 HGNC ENSG00000251247 180 0 0.00 138 54 27.98 - - - ZNF415 0 genome.wustl.edu 37 19 53612832 53612832 + Missense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 53612832 53612832 C T SNP ZNF415 ENST00000448501 human ensembl 69_37n -1 known missense c.610 p.E204K 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 194 0 0.00 207 43 17.20 - - - ZNF544 0 genome.wustl.edu 37 19 58773061 58773061 + Silent SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 58773061 58773061 C T SNP ZNF544 ENST00000269829 human ensembl 69_37n +1 known silent c.1089 p.F363 0.228 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 ZNF544 HGNC ENSG00000198131 151 0 0.00 89 53 37.32 - - - ZNF585B 0 genome.wustl.edu 37 19 37676695 37676695 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 37676695 37676695 C G SNP ZNF585B ENST00000532828 human ensembl 69_37n -1 known missense c.1744 p.E582Q 0.077 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 ZNF585B HGNC ENSG00000245680 138 0 0.00 126 31 19.75 - - - ZNF613 0 genome.wustl.edu 37 19 52448430 52448430 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 52448430 52448430 G A SNP ZNF613 ENST00000293471 human ensembl 69_37n +1 known missense c.1294 p.E432K 0.027 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 ZNF613 HGNC ENSG00000176024 148 0 0.00 147 48 24.49 - - - ZNF618 0 genome.wustl.edu 37 9 116811020 116811020 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 9 116811020 116811020 G A SNP ZNF618 ENST00000374126 human ensembl 69_37n +1 known missense c.1438 p.D480N 1.000 NULL superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 111 1 0.89 90 34 27.42 - - - ZNF623 0 genome.wustl.edu 37 8 144732325 144732325 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 8 144732325 144732325 C G SNP ZNF623 ENST00000501748 human ensembl 69_37n +1 known missense c.283 p.Q95E 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF623 HGNC ENSG00000183309 78 0 0.00 56 15 21.13 - - - ZNF623 0 genome.wustl.edu 37 8 144732550 144732550 + Nonsense_Mutation SNP C C T TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 8 144732550 144732550 C T SNP ZNF623 ENST00000501748 human ensembl 69_37n +1 known nonsense c.508 p.Q170* 0.941 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF623 HGNC ENSG00000183309 137 0 0.00 132 32 19.51 - - - ZNF675 0 genome.wustl.edu 37 19 23836556 23836556 + Missense_Mutation SNP C C G TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 23836556 23836556 C G SNP ZNF675 ENST00000359788 human ensembl 69_37n -1 known missense c.1179 p.E393D 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 ZNF675 HGNC ENSG00000197372 189 0 0.00 143 50 25.91 - - - ZNF704 0 genome.wustl.edu 37 8 81599539 81599539 + Silent SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 8 81599539 81599539 G A SNP ZNF704 ENST00000327835 human ensembl 69_37n -1 known silent c.480 p.P160 0.298 NULL pfscan_Znf_C2H2 - no_errors ZNF704 HGNC ENSG00000164684 12 0 0.00 7 4 36.36 - - - ZNF90 0 genome.wustl.edu 37 19 20229984 20229984 + Missense_Mutation SNP G G C TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 19 20229984 20229984 G C SNP ZNF90 ENST00000418063 human ensembl 69_37n +1 known missense c.1621 p.E541Q 0.688 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 ZNF90 HGNC ENSG00000213988 66 0 0.00 52 18 25.71 - - - ZZEF1 0 genome.wustl.edu 37 17 3981281 3981281 + Missense_Mutation SNP G G A TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx add624a3-57e9-46be-9bcc-3e53d7c2dfb7 5cae8dca-b28a-4483-9c03-6f0645161c04 17 3981281 3981281 G A SNP ZZEF1 ENST00000381638 human ensembl 69_37n -1 known missense c.2885 p.S962F 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 118 0 0.00 58 27 31.40 - - -