Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCA12 0 genome.wustl.edu 37 2 215818797 215818797 + Missense_Mutation SNP A A T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 215818797 215818797 A T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.6428 p.I2143N 0.994 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 126 0 0.00 102 30 22.73 ABCC4 0 genome.wustl.edu 37 13 95953527 95953527 + Missense_Mutation SNP C C A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 13 95953527 95953527 C A SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known missense c.42 p.Q14H 0.993 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 tier1 - - 43 0 0.00 81 9 10.00 ABCC5 0 genome.wustl.edu 37 3 183681355 183681355 + Missense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 183681355 183681355 G T SNP ABCC5 ENST00000334444 human ensembl 74_37 -1 known missense c.2053 p.L685M 1.000 pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 tier1 - - 93 0 0.00 89 25 21.93 ACACB 0 genome.wustl.edu 37 12 109605781 109605781 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 12 109605781 109605781 C T SNP ACACB ENST00000338432 human ensembl 74_37 +1 known silent c.867 p.N289 0.901 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 tier1 - - 78 0 0.00 61 5 7.58 ACSM2A 0 genome.wustl.edu 37 16 20471485 20471485 + Missense_Mutation SNP C C A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 16 20471485 20471485 C A SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known missense c.49 p.Q17K 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 tier1 - - 74 0 0.00 58 8 12.12 ACTN2 0 genome.wustl.edu 37 1 236898940 236898940 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 236898940 236898940 G A SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.703 p.V235M 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 tier1 - - 105 0 0.00 120 7 5.51 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 tier1 112 0 0.00 93 18 16.22 ADAMTS6 0 genome.wustl.edu 37 5 64468720 64468720 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 64468720 64468720 C T SNP ADAMTS6 ENST00000381055 human ensembl 74_37 -1 known missense c.3026 p.R1009H 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 tier1 - - 150 0 0.00 99 6 5.71 AHNAK 0 genome.wustl.edu 37 11 62284937 62284937 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 62284937 62284937 C T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.16952 p.S5651N 0.891 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 179 0 0.00 36 90 71.43 AKAP13 0 genome.wustl.edu 37 15 86124595 86124595 + Missense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 15 86124595 86124595 G T SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.3296 p.G1099V 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 tier1 - - 122 0 0.00 59 17 22.37 ALDH1L1 0 genome.wustl.edu 37 3 125850284 125850284 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 125850284 125850284 G A SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known silent c.1566 p.H522 0.720 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 tier1 - - 258 0 0.00 215 15 6.52 ANKRD13D 0 genome.wustl.edu 37 11 67068830 67068830 + Missense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 67068830 67068830 G T SNP ANKRD13D ENST00000511455 human ensembl 74_37 +1 known missense c.1309 p.V437L 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13D HGNC ENSG00000172932 tier1 - - 99 0 0.00 70 6 7.89 ANP32A 0 genome.wustl.edu 37 15 69072347 69072347 + RNA DEL G G - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 15 69072347 69072347 G - DEL ANP32A ENST00000267918 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANP32A HGNC ENSG00000140350 tier1 20 0 0.00 9 4 30.77 APBA2 0 genome.wustl.edu 37 15 29346989 29346989 + Missense_Mutation SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 15 29346989 29346989 A G SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known missense c.902 p.K301R 1.000 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 tier1 - - 41 0 0.00 18 15 45.45 ARHGEF12 0 genome.wustl.edu 37 11 120298810 120298810 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 120298810 120298810 C T SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known missense c.382 p.R128C 1.000 superfamily_PDZ,smart_PDZ pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 tier1 - - 327 0 0.00 348 69 16.55 ATP10B 0 genome.wustl.edu 37 5 160047743 160047743 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 160047743 160047743 T C SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.2027 p.D676G 0.002 superfamily_HAD-like_dom pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 tier1 - - 77 0 0.00 49 26 34.67 ATP5F1 0 genome.wustl.edu 37 1 111998823 111998824 + Frame_Shift_Ins INS - - A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 111998823 111998824 - A INS ATP5F1 ENST00000369722 human ensembl 74_37 +1 known frame_shift_ins c.339_340 p.Y115fs 1.000:1.000 pfam_ATPase_B_chain/sub_B/MI25 pfam_ATPase_B_chain/sub_B/MI25 - no_errors ATP5F1 HGNC ENSG00000116459 tier1 124 0 0.00 59 28 32.18 AVEN 0 genome.wustl.edu 37 15 34163233 34163234 + Splice_Site DEL TA TA - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 15 34163233 34163234 TA - DEL AVEN ENST00000306730 human ensembl 74_37 -1 known splice_site_del c.517-3_517-2 e4-2 1.000:0.200 - - - no_errors AVEN HGNC ENSG00000169857 tier1 26 0 0.00 23 4 14.81 BNIP3P1 0 genome.wustl.edu 37 14 28733726 28733726 + RNA SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 14 28733726 28733726 C T SNP BNIP3P1 ENST00000550043 human ensembl 74_37 +1 known rna NULL NULL 0.091 - - - no_errors BNIP3P1 HGNC ENSG00000197358 tier1 - - 20 0 0.00 10 7 41.18 C1orf173 0 genome.wustl.edu 37 1 75055517 75055517 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 75055517 75055517 C T SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known silent c.1974 p.P658 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 160 0 0.00 75 25 25.00 C22orf23 0 genome.wustl.edu 37 22 38349054 38349054 + Missense_Mutation SNP C C A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 22 38349054 38349054 C A SNP C22orf23 ENST00000249079 human ensembl 74_37 -1 known missense c.103 p.V35L 1.000 pfam_UPF0193 pfam_UPF0193 - no_errors C22orf23 HGNC ENSG00000128346 tier1 - - 294 0 0.00 198 11 5.26 CBLN1 0 genome.wustl.edu 37 16 49314999 49314999 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 16 49314999 49314999 G A SNP CBLN1 ENST00000564786 human ensembl 74_37 -1 known silent c.378 p.S126 0.000 NULL NULL - no_errors CBLN1 HGNC ENSG00000102924 tier1 - - 65 0 0.00 42 11 20.75 CBX3P2 0 genome.wustl.edu 37 18 2652915 2652915 + RNA DEL A A - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 18 2652915 2652915 A - DEL CBX3P2 ENST00000579647 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors CBX3P2 HGNC ENSG00000266405 tier1 12 0 0.00 4 2 33.33 CCDC15 0 genome.wustl.edu 37 11 124829726 124829726 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 124829726 124829726 T C SNP CCDC15 ENST00000344762 human ensembl 74_37 +1 known missense c.343 p.S115P 0.007 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 16 0 0.00 18 4 18.18 CCDC150 0 genome.wustl.edu 37 2 197584401 197584401 + RNA DEL T T - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 197584401 197584401 T - DEL CCDC150 ENST00000461825 human ensembl 74_37 +1 putative rna NULL NULL 0.003 - - - no_errors CCDC150 HGNC ENSG00000144395 tier1 16 0 0.00 19 5 20.83 CCDC155 0 genome.wustl.edu 37 19 49920666 49920668 + In_Frame_Del DEL CTG CTG - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 49920666 49920668 CTG - DEL CCDC155 ENST00000447857 human ensembl 74_37 +1 known in_frame_del c.1588_1590 p.L533in_frame_del 0.981:1.000:1.000 NULL NULL - no_errors CCDC155 HGNC ENSG00000161609 tier1 11 0 0.00 4 2 33.33 CCDC171 0 genome.wustl.edu 37 9 15623324 15623324 + Missense_Mutation SNP T T A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 15623324 15623324 T A SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.735 p.H245Q 0.961 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 tier1 - - 181 0 0.00 92 20 17.86 CCDC171 0 genome.wustl.edu 37 9 15971636 15971636 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 15971636 15971636 C T SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known silent c.3783 p.S1261 0.162 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 tier1 - - 216 0 0.00 154 12 7.23 CCKBR 0 genome.wustl.edu 37 11 6292299 6292299 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 6292299 6292299 C T SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known silent c.1077 p.S359 0.027 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcskin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 tier1 - - 149 0 0.00 117 44 27.33 CCSER2 0 genome.wustl.edu 37 10 86198417 86198417 + Missense_Mutation SNP C C G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 10 86198417 86198417 C G SNP CCSER2 ENST00000372088 human ensembl 74_37 +1 known missense c.2018 p.T673S 1.000 NULL NULL - no_errors CCSER2 HGNC ENSG00000107771 tier1 - - 140 0 0.00 82 21 20.39 CD46 0 genome.wustl.edu 37 1 207940909 207940909 + RNA SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 207940909 207940909 A G SNP CD46 ENST00000469535 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CD46 HGNC ENSG00000117335 tier1 - - 99 0 0.00 54 68 55.28 CDC25B 0 genome.wustl.edu 37 20 3782936 3782936 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 20 3782936 3782936 C T SNP CDC25B ENST00000245960 human ensembl 74_37 +1 known silent c.1107 p.R369 0.003 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25B HGNC ENSG00000101224 tier1 rs143612466 - 77 0 0.00 73 13 15.12 CDH8 0 genome.wustl.edu 37 16 61851489 61851489 + Missense_Mutation SNP A A T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 16 61851489 61851489 A T SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.1171 p.F391I 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 tier1 - - 84 0 0.00 48 16 25.00 CDH8 0 genome.wustl.edu 37 16 61851491 61851491 + Frame_Shift_Del DEL A A - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 16 61851491 61851491 A - DEL CDH8 ENST00000577390 human ensembl 74_37 -1 known frame_shift_del c.1169 p.V390fs 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 tier1 87 0 0.00 49 14 22.22 CDH8 0 genome.wustl.edu 37 16 61935321 61935321 + Silent SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 16 61935321 61935321 A G SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known silent c.309 p.D103 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 tier1 - - 69 0 0.00 38 17 30.91 CENPF 0 genome.wustl.edu 37 1 214830280 214830280 + Silent SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 214830280 214830280 T C SNP CENPF ENST00000366955 human ensembl 74_37 +1 known silent c.8490 p.T2830 0.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 tier1 - - 64 0 0.00 72 5 6.49 CFHR3 0 genome.wustl.edu 37 1 196748349 196748349 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 196748349 196748349 G A SNP CFHR3 ENST00000367425 human ensembl 74_37 +1 known missense c.116 p.R39H 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC ENSG00000116785 tier1 - - 103 0 0.00 69 15 17.86 CFL2 0 genome.wustl.edu 37 14 35182276 35182276 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 14 35182276 35182276 C T SNP CFL2 ENST00000298159 human ensembl 74_37 -1 known silent c.378 p.K126 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin - no_errors CFL2 HGNC ENSG00000165410 tier1 - - 20 0 0.00 3 11 78.57 CFTR 0 genome.wustl.edu 37 7 117170954 117170954 + Missense_Mutation SNP A A T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 7 117170954 117170954 A T SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.275 p.E92V 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 tier1 - - 31 0 0.00 20 5 19.23 CHEK2P2 0 genome.wustl.edu 37 15 20488772 20488772 + RNA SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 15 20488772 20488772 G T SNP CHEK2P2 ENST00000555186 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CHEK2P2 HGNC ENSG00000259156 tier1 - - 113 0 0.00 54 21 28.00 CHRM4 0 genome.wustl.edu 37 11 46408062 46408062 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 46408062 46408062 C T SNP CHRM4 ENST00000433765 human ensembl 74_37 -1 known missense c.46 p.V16M 0.972 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_M4_rcpt - no_errors CHRM4 HGNC ENSG00000180720 tier1 - - 176 0 0.00 118 39 24.84 CIT 0 genome.wustl.edu 37 12 120156131 120156131 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 12 120156131 120156131 G A SNP CIT ENST00000261833 human ensembl 74_37 -1 known missense c.3961 p.R1321W 1.000 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 tier1 - - 102 0 0.00 82 8 8.89 CLSPN 0 genome.wustl.edu 37 1 36219462 36219462 + Missense_Mutation SNP T T A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 36219462 36219462 T A SNP CLSPN ENST00000318121 human ensembl 74_37 -1 known missense c.1655 p.N552I 0.990 NULL NULL - no_errors CLSPN HGNC ENSG00000092853 tier1 - - 91 0 0.00 84 6 6.67 CNTN3 0 genome.wustl.edu 37 3 74334556 74334556 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 74334556 74334556 G A SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known silent c.2604 p.G868 0.717 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 tier1 - - 228 0 0.00 152 11 6.71 CNTNAP3 0 genome.wustl.edu 37 9 39073899 39073899 + Frame_Shift_Del DEL T T - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 39073899 39073899 T 0 DEL CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known frame_shift_del c.3855 p.E1286fs 0.966 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 41 0 0.00 22 8 26.67 CNTNAP3B 0 genome.wustl.edu 37 9 43822749 43822749 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 43822749 43822749 G A SNP CNTNAP3B ENST00000377564 human ensembl 74_37 +1 known missense c.1303 p.A435T 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3B HGNC ENSG00000154529 tier1 rs200531555 - 11 0 0.00 4 3 42.86 COL11A1 0 genome.wustl.edu 37 1 103385915 103385915 + Silent SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 103385915 103385915 T G SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.3750 p.P1250 0.996 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 172 0 0.00 104 35 25.18 COL4A5 0 genome.wustl.edu 37 X 107868943 107868943 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 107868943 107868943 G A SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.3025 p.G1009S 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 tier1 - - 20 0 0.00 9 10 52.63 COL6A3 0 genome.wustl.edu 37 2 238245167 238245167 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 238245167 238245167 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.8576 p.P2859L 0.230 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 160 0 0.00 91 22 19.47 CPE 0 genome.wustl.edu 37 4 166385550 166385550 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 4 166385550 166385550 G A SNP CPE ENST00000402744 human ensembl 74_37 +1 known missense c.316 p.E106K 1.000 pfam_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPE HGNC ENSG00000109472 46 0 0.00 29 4 12.12 CSNK1E 0 genome.wustl.edu 37 22 38699204 38699204 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 22 38699204 38699204 C T SNP CSNK1E ENST00000359867 human ensembl 74_37 -1 known silent c.126 p.V42 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1E HGNC ENSG00000213923 25 0 0.00 15 3 16.67 CSRP2BP 0 genome.wustl.edu 37 20 18131568 18131569 + Frame_Shift_Ins INS - - T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 20 18131568 18131569 - T INS CSRP2BP ENST00000435364 human ensembl 74_37 +1 known frame_shift_ins c.482_483 p.L163fs 0.990:0.823 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 tier1 178 0 0.00 192 22 10.28 CXADRP3 0 genome.wustl.edu 37 18 14478675 14478675 + RNA SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 18 14478675 14478675 A G SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 0.488 - - - no_errors CXADRP3 HGNC ENSG00000265766 tier1 - - 34 0 0.00 3 13 81.25 CXorf58 0 genome.wustl.edu 37 X 23953370 23953370 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 23953370 23953370 C T SNP CXorf58 ENST00000379211 human ensembl 74_37 +1 known missense c.613 p.R205C 1.000 NULL NULL - no_errors CXorf58 HGNC ENSG00000165182 tier1 - - 153 0 0.00 94 9 8.74 CYP4F8 0 genome.wustl.edu 37 19 15739204 15739204 + RNA SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 15739204 15739204 C T SNP CYP4F8 ENST00000325723 human ensembl 74_37 +1 known rna NULL NULL 0.980 - - - no_errors CYP4F8 HGNC ENSG00000186526 tier1 - - 185 0 0.00 87 10 10.31 DAP3 0 genome.wustl.edu 37 1 155695186 155695186 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 155695186 155695186 G A SNP DAP3 ENST00000343043 human ensembl 74_37 +1 known missense c.284 p.S95N 0.449 superfamily_P-loop_NTPase,prints_Ribosomal_S29_mit pfam_Ribosomal_S23/S29_mit,superfamily_P-loop_NTPase,prints_Ribosomal_S29_mit - no_errors DAP3 HGNC ENSG00000132676 tier1 - - 202 0 0.00 85 113 57.07 DDX23 0 genome.wustl.edu 37 12 49239535 49239535 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 12 49239535 49239535 G A SNP DDX23 ENST00000308025 human ensembl 74_37 -1 known missense c.31 p.R11C 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX23 HGNC ENSG00000174243 tier1 - - 60 0 0.00 40 4 9.09 DEPDC1 0 genome.wustl.edu 37 1 68944834 68944834 + Frame_Shift_Del DEL T T - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 68944834 68944834 T - DEL DEPDC1 ENST00000456315 human ensembl 74_37 -1 known frame_shift_del c.2105 p.K702fs 0.641 NULL pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC1 HGNC ENSG00000024526 tier1 69 0 0.00 47 5 9.62 DGKD 0 genome.wustl.edu 37 2 234297066 234297066 + RNA SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 234297066 234297066 G A SNP DGKD ENST00000489613 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors DGKD HGNC ENSG00000077044 tier1 - - 42 0 0.00 22 4 15.38 DIAPH1 0 genome.wustl.edu 37 5 140953308 140953309 + Frame_Shift_Ins INS - - G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 140953308 140953309 - G INS DIAPH1 ENST00000253811 human ensembl 74_37 -1 known frame_shift_ins c.2109_2108 p.P704fs 0.880:0.995 pfam_Formin_homology_1 pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 tier1 27 0 0.00 10 5 33.33 DISC1 0 genome.wustl.edu 37 1 231906718 231906718 + Silent SNP C C A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 231906718 231906718 C A SNP DISC1 ENST00000439617 human ensembl 74_37 +1 known silent c.1536 p.S512 0.006 superfamily_Prefoldin superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 tier1 - - 42 0 0.00 20 10 33.33 DNAH17 0 genome.wustl.edu 37 17 76558007 76558007 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 76558007 76558007 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.1625 p.A542V 0.990 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 tier1 - - 75 0 0.00 29 20 40.82 DNAH5 0 genome.wustl.edu 37 5 13786338 13786338 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 13786338 13786338 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.8770 p.A2924T 0.001 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 53 0 0.00 31 10 24.39 DPYSL2 0 genome.wustl.edu 37 8 26481667 26481667 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 26481667 26481667 G A SNP DPYSL2 ENST00000311151 human ensembl 74_37 +1 known missense c.322 p.V108I 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL2 HGNC ENSG00000092964 tier1 - - 76 0 0.00 43 33 43.42 DSTYK 0 genome.wustl.edu 37 1 205138555 205138555 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 205138555 205138555 G A SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known missense c.1060 p.R354C 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DSTYK HGNC ENSG00000133059 tier1 - - 88 0 0.00 73 23 23.96 DTNA 0 genome.wustl.edu 37 18 32455316 32455316 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 18 32455316 32455316 C T SNP DTNA ENST00000269190 human ensembl 74_37 +1 known silent c.1779 p.D593 1.000 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC ENSG00000134769 tier1 - - 115 0 0.00 20 35 63.64 EDNRB 0 genome.wustl.edu 37 13 78492693 78492693 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 13 78492693 78492693 T C SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.16 p.S6G 0.148 prints_ETB_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 tier1 - - 52 0 0.00 71 6 7.79 EDNRB 0 genome.wustl.edu 37 13 78493594 78493594 + Missense_Mutation SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 13 78493594 78493594 A C SNP EDNRB ENST00000377211 human ensembl 74_37 -1 putative missense c.157 p.F53V 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 tier1 - - 104 0 0.00 118 49 29.34 EGLN3 0 genome.wustl.edu 37 14 34400329 34400329 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 14 34400329 34400329 G A SNP EGLN3 ENST00000250457 human ensembl 74_37 -1 known silent c.450 p.Y150 1.000 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors EGLN3 HGNC ENSG00000129521 tier1 - - 231 0 0.00 189 10 5.03 ELTD1 0 genome.wustl.edu 37 1 79358836 79358836 + Silent SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 79358836 79358836 A C SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known silent c.1788 p.V596 0.999 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 tier1 - - 55 0 0.00 45 15 25.00 EMCN 0 genome.wustl.edu 37 4 101331501 101331501 + Missense_Mutation SNP C C A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 4 101331501 101331501 C A SNP EMCN ENST00000296420 human ensembl 74_37 -1 known missense c.763 p.A255S 1.000 pfam_Endomucin pfam_Endomucin - no_errors EMCN HGNC ENSG00000164035 tier1 - - 83 0 0.00 57 34 37.36 ENSG00000228274 0 genome.wustl.edu 37 22 39066883 39066883 + RNA SNP C C A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 22 39066883 39066883 C A SNP ENSG00000228274 ENST00000444381 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors RP3-508I15.9 Clone_based_vega_gene ENSG00000228274 tier1 - - 190 0 0.00 68 38 35.85 ENSG00000235298 0 genome.wustl.edu 37 9 86590446 86590446 + RNA SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 86590446 86590446 A G SNP ENSG00000235298 ENST00000448389 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-575L7.8 Clone_based_vega_gene ENSG00000235298 tier1 - - 99 0 0.00 54 36 40.00 ENSG00000253917 0 genome.wustl.edu 37 4 3952870 3952870 + RNA SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 4 3952870 3952870 T G SNP ENSG00000253917 ENST00000281228 human ensembl 74_37 -1 known rna NULL NULL 0.988 - - - no_errors AC226119.5 Clone_based_vega_gene ENSG00000253917 tier1 - - 98 0 0.00 33 8 19.51 ENSG00000263345 0 genome.wustl.edu 37 17 2281027 2281030 + RNA DEL ACAG ACAG - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 ACAG ACAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 2281027 2281030 ACAG - DEL ENSG00000263345 ENST00000573007 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors RP1-59D14.5 Clone_based_vega_gene ENSG00000263345 tier1 28 0 0.00 9 2 18.18 ENSG00000266999 0 genome.wustl.edu 37 17 34236389 34236389 + RNA SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 34236389 34236389 C T SNP ENSG00000266999 ENST00000587132 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 tier1 - - 77 0 0.00 34 15 30.61 FAM135B 0 genome.wustl.edu 37 8 139165293 139165293 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 139165293 139165293 T G SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.1425 p.E475D 0.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 tier1 - - 85 0 0.00 47 57 54.81 FAM222B 0 genome.wustl.edu 37 17 27086035 27086035 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 27086035 27086035 G A SNP FAM222B ENST00000341217 human ensembl 74_37 -1 known silent c.942 p.S314 0.991 NULL NULL - no_errors FAM222B HGNC ENSG00000173065 tier1 - - 29 0 0.00 16 7 30.43 FGD6 0 genome.wustl.edu 37 12 95485536 95485536 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 12 95485536 95485536 T C SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known missense c.3797 p.K1266R 1.000 pfam_Znf_FYVE,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 tier1 - - 53 0 0.00 35 4 10.26 FOXB2 0 genome.wustl.edu 37 9 79635343 79635343 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 79635343 79635343 C T SNP FOXB2 ENST00000376708 human ensembl 74_37 +1 known missense c.773 p.A258V 0.010 prints_Antifreeze_1 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head,prints_Antifreeze_1 - no_errors FOXB2 HGNC ENSG00000204612 tier1 - - 54 0 0.00 36 22 37.93 FOXK1 0 genome.wustl.edu 37 7 4722396 4722396 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 7 4722396 4722396 T G SNP FOXK1 ENST00000328914 human ensembl 74_37 +1 known missense c.457 p.F153V 0.998 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK1 HGNC ENSG00000164916 tier1 - - 36 0 0.00 30 7 18.92 FZR1 0 genome.wustl.edu 37 19 3532525 3532525 + Frame_Shift_Del DEL G G - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 3532525 3532525 G - DEL FZR1 ENST00000395095 human ensembl 74_37 +1 known frame_shift_del c.1119 p.G375fs 0.008 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FZR1 HGNC ENSG00000105325 tier1 140 0 0.00 56 15 21.13 GAL3ST2 0 genome.wustl.edu 37 2 242741298 242741298 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 242741298 242741298 C T SNP GAL3ST2 ENST00000192314 human ensembl 74_37 +1 known silent c.222 p.F74 0.180 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST2 HGNC ENSG00000154252 tier1 rs144819363 - 184 0 0.00 93 27 22.50 GAL3ST3 0 genome.wustl.edu 37 11 65810849 65810849 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 65810849 65810849 G A SNP GAL3ST3 ENST00000312006 human ensembl 74_37 -1 known missense c.425 p.P142L 1.000 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST3 HGNC ENSG00000175229 tier1 - - 50 0 0.00 20 9 31.03 GFRA3 0 genome.wustl.edu 37 5 137593479 137593479 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 137593479 137593479 C T SNP GFRA3 ENST00000274721 human ensembl 74_37 -1 known missense c.634 p.A212T 0.004 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt_A3 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 tier1 - - 118 0 0.00 83 7 7.78 GGTLC1 0 genome.wustl.edu 37 20 23966745 23966745 + Missense_Mutation SNP A A T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 20 23966745 23966745 A T SNP GGTLC1 ENST00000278765 human ensembl 74_37 -1 known missense c.272 p.V91E 0.999 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC1 HGNC ENSG00000149435 tier1 - - 290 0 0.00 174 177 50.43 GIGYF2 0 genome.wustl.edu 37 2 233721514 233721514 + Missense_Mutation SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 233721514 233721514 A G SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known missense c.3910 p.N1304D 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 tier1 - - 193 0 0.00 151 8 5.03 GJA10 0 genome.wustl.edu 37 6 90604825 90604825 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 6 90604825 90604825 T C SNP GJA10 ENST00000369352 human ensembl 74_37 +1 known missense c.638 p.L213P 0.993 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA10 HGNC ENSG00000135355 tier1 - - 299 0 0.00 59 118 66.67 GLI3 0 genome.wustl.edu 37 7 42005935 42005935 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 7 42005935 42005935 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.2736 p.S912 0.003 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 tier1 - - 98 0 0.00 56 22 28.21 GNAS 0 genome.wustl.edu 37 20 57415691 57415691 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 20 57415691 57415691 G A SNP GNAS ENST00000313949 human ensembl 74_37 +1 known missense c.530 p.R177H 0.005 pfam_NESP55 pfam_NESP55 - no_errors GNAS HGNC ENSG00000087460 tier1 - - 53 0 0.00 69 16 18.82 GNRHR 0 genome.wustl.edu 37 4 68610326 68610326 + Missense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 4 68610326 68610326 G T SNP GNRHR ENST00000420975 human ensembl 74_37 -1 known missense c.574 p.H192N 1.000 pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GphnRH_fam_rcpt,prints_GPCR_Rhodpsn - no_errors GNRHR HGNC ENSG00000109163 tier1 - - 127 0 0.00 45 17 27.42 GPC2 0 genome.wustl.edu 37 7 99769525 99769525 + Frame_Shift_Del DEL G G - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 7 99769525 99769525 G - DEL GPC2 ENST00000292377 human ensembl 74_37 -1 known frame_shift_del c.1047 p.D350fs 0.020 pfam_Glypican pfam_Glypican - no_errors GPC2 HGNC ENSG00000213420 tier1 19 0 0.00 9 2 18.18 GPR149 0 genome.wustl.edu 37 3 154055666 154055666 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 154055666 154055666 G A SNP GPR149 ENST00000389740 human ensembl 74_37 -1 known missense c.2018 p.S673F 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 tier1 - - 252 0 0.00 187 60 24.29 GPR158 0 genome.wustl.edu 37 10 25887644 25887644 + Missense_Mutation SNP C C G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 10 25887644 25887644 C G SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.3089 p.S1030C 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 rs200285541 - 107 0 0.00 98 6 5.77 GPR158 0 genome.wustl.edu 37 10 25887851 25887851 + Missense_Mutation SNP C C G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 10 25887851 25887851 C G SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.3296 p.A1099G 0.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 156 0 0.00 107 6 5.31 GTF2IRD1 0 genome.wustl.edu 37 7 73927297 73927297 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 7 73927297 73927297 C T SNP GTF2IRD1 ENST00000265755 human ensembl 74_37 +1 known silent c.261 p.F87 1.000 pirsf_TF_II-I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 tier1 - - 92 0 0.00 88 5 5.38 HAPLN4 0 genome.wustl.edu 37 19 19369440 19369440 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 19369440 19369440 C T SNP HAPLN4 ENST00000291481 human ensembl 74_37 -1 known missense c.709 p.G237R 0.372 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN4 HGNC ENSG00000187664 tier1 - - 83 0 0.00 32 14 30.43 HCN1 0 genome.wustl.edu 37 5 45645460 45645460 + Missense_Mutation SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 45645460 45645460 A C SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.676 p.F226V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 tier1 - - 50 0 0.00 26 13 33.33 HEPHL1 0 genome.wustl.edu 37 11 93836122 93836122 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 93836122 93836122 G A SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known missense c.2618 p.G873D 1.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 tier1 - - 70 0 0.00 26 58 69.05 HMCN1 0 genome.wustl.edu 37 1 185934951 185934951 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 185934951 185934951 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.2116 p.V706I 0.988 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 131 0 0.00 141 8 5.37 HTR1F 0 genome.wustl.edu 37 3 88039930 88039930 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 88039930 88039930 T G SNP HTR1F ENST00000319595 human ensembl 74_37 +1 known missense c.31 p.L11V 1.000 prints_5HT1F_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors HTR1F HGNC ENSG00000179097 tier1 - - 164 0 0.00 96 15 13.51 HTR3A 0 genome.wustl.edu 37 11 113860480 113860480 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 113860480 113860480 G A SNP HTR3A ENST00000355556 human ensembl 74_37 +1 known missense c.1546 p.A516T 1.000 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 tier1 - - 161 0 0.00 31 102 76.69 IFIT2 0 genome.wustl.edu 37 10 91066831 91066831 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 10 91066831 91066831 T C SNP IFIT2 ENST00000371826 human ensembl 74_37 +1 known missense c.1118 p.L373P 0.833 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT2 HGNC ENSG00000119922 tier1 - - 142 0 0.00 65 35 35.00 ITGA2 0 genome.wustl.edu 37 5 52366069 52366069 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 52366069 52366069 C T SNP ITGA2 ENST00000296585 human ensembl 74_37 +1 known silent c.2214 p.P738 0.196 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 tier1 rs142557473 - 120 0 0.00 59 26 30.59 JMJD4 0 genome.wustl.edu 37 1 227921267 227921267 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 227921267 227921267 C T SNP JMJD4 ENST00000366758 human ensembl 74_37 -1 known missense c.808 p.G270S 0.998 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD4 HGNC ENSG00000081692 tier1 - - 86 0 0.00 63 13 17.11 KCNC1 0 genome.wustl.edu 37 11 17793306 17793306 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 17793306 17793306 C T SNP KCNC1 ENST00000265969 human ensembl 74_37 +1 known missense c.665 p.T222M 1.000 prints_K_chnl_volt-dep_Kv3.1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 tier1 - - 164 0 0.00 106 28 20.90 KCND2 0 genome.wustl.edu 37 7 120387737 120387737 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 7 120387737 120387737 G A SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.1718 p.R573Q 1.000 prints_K_chnl_volt-dep_Kv4.2 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 61 0 0.00 57 9 13.64 KCNH5 0 genome.wustl.edu 37 14 63269081 63269081 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 14 63269081 63269081 T G SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known missense c.1788 p.E596D 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 tier1 - - 112 0 0.00 36 60 62.50 KCNT2 0 genome.wustl.edu 37 1 196250015 196250015 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 196250015 196250015 T C SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.2885 p.E962G 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 63 0 0.00 68 16 19.05 KDM2A 0 genome.wustl.edu 37 11 67017572 67017572 + Nonsense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 67017572 67017572 G T SNP KDM2A ENST00000529006 human ensembl 74_37 +1 known nonsense c.2071 p.E691* 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 tier1 - - 60 0 0.00 26 9 25.71 KDM3B 0 genome.wustl.edu 37 5 137735660 137735660 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 137735660 137735660 G A SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known missense c.3158 p.C1053Y 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 tier1 - - 156 0 0.00 74 38 33.93 KDM5B 0 genome.wustl.edu 37 1 202709804 202709804 + Nonsense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 202709804 202709804 G A SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known nonsense c.3190 p.Q1064* 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 tier1 - - 102 0 0.00 96 8 7.69 KDM5C 0 genome.wustl.edu 37 X 53227954 53227954 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 53227954 53227954 C T SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.2360 p.R787Q 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 tier1 - - 97 0 0.00 72 5 6.49 KIAA1045 0 genome.wustl.edu 37 9 34977582 34977584 + In_Frame_Del DEL CAG CAG - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 34977582 34977584 CAG - DEL KIAA1045 ENST00000242315 human ensembl 74_37 +1 known in_frame_del c.1050_1052 p.S354in_frame_del 1.000:1.000:1.000 NULL superfamily_Znf_FYVE_PHD - no_errors KIAA1045 HGNC ENSG00000122733 tier1 30 0 0.00 21 3 12.50 KIF20B 0 genome.wustl.edu 37 10 91477407 91477407 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 10 91477407 91477407 C T SNP KIF20B ENST00000416354 human ensembl 74_37 +1 known missense c.1199 p.T400I 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 tier1 - - 177 0 0.00 105 22 17.32 KLF4 0 genome.wustl.edu 37 9 110250158 110250158 + Missense_Mutation SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 110250158 110250158 A G SNP KLF4 ENST00000374672 human ensembl 74_37 -1 known missense c.517 p.Y173H 0.100 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF4 HGNC ENSG00000136826 tier1 - - 14 0 0.00 7 7 50.00 KLHL38 0 genome.wustl.edu 37 8 124663889 124663889 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 124663889 124663889 G A SNP KLHL38 ENST00000325995 human ensembl 74_37 -1 known silent c.1278 p.V426 0.044 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC ENSG00000175946 tier1 - - 164 0 0.00 135 27 16.67 KMT2A 0 genome.wustl.edu 37 11 118374702 118374702 + Nonsense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 118374702 118374702 C T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known nonsense c.8086 p.R2696* 0.919 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 82 0 0.00 92 5 5.15 KRAS 0 genome.wustl.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 12 25398285 25398285 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.34 p.G12S 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 tier1 rs121913530 - 33 0 0.00 11 10 47.62 LMF1 0 genome.wustl.edu 37 16 920856 920856 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 16 920856 920856 C T SNP LMF1 ENST00000262301 human ensembl 74_37 -1 known missense c.1105 p.V369I 0.565 pfam_LMF pfam_LMF - no_errors LMF1 HGNC ENSG00000103227 53 0 0.00 47 4 7.84 LRFN1 0 genome.wustl.edu 37 19 39805592 39805592 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 39805592 39805592 G A SNP LRFN1 ENST00000248668 human ensembl 74_37 -1 known missense c.385 p.R129C 0.430 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN1 HGNC ENSG00000128011 tier1 - - 36 0 0.00 25 5 16.67 MAGEC1 0 genome.wustl.edu 37 X 140995998 140995998 + Silent SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 140995998 140995998 G T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known silent c.2808 p.T936 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 172 0 0.00 32 86 72.88 MAP1A 0 genome.wustl.edu 37 15 43815692 43815692 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 15 43815692 43815692 C T SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known missense c.2021 p.A674V 0.997 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 tier1 - - 58 0 0.00 21 11 34.38 MAT2B 0 genome.wustl.edu 37 5 162943688 162943688 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 162943688 162943688 T C SNP MAT2B ENST00000321757 human ensembl 74_37 +1 known missense c.691 p.C231R 1.000 pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_Polysac_CapD-like,pfam_3Beta_OHSteriod_DH/Estase - no_errors MAT2B HGNC ENSG00000038274 tier1 - - 69 0 0.00 35 13 27.08 MBOAT2 0 genome.wustl.edu 37 2 9002810 9002810 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 9002810 9002810 C T SNP MBOAT2 ENST00000305997 human ensembl 74_37 -1 known silent c.1095 p.T365 0.065 pfam_MBOAT_fam pfam_MBOAT_fam,superfamily_MFS_dom_general_subst_transpt - no_errors MBOAT2 HGNC ENSG00000143797 tier1 - - 68 0 0.00 51 14 21.54 MCM3AP 0 genome.wustl.edu 37 21 47662778 47662778 + Silent SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 21 47662778 47662778 A G SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known silent c.5364 p.V1788 0.757 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 tier1 - - 129 0 0.00 57 38 40.00 MICALL1 0 genome.wustl.edu 37 22 38323469 38323469 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 22 38323469 38323469 C T SNP MICALL1 ENST00000215957 human ensembl 74_37 +1 known missense c.1517 p.S506L 0.999 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL1 HGNC ENSG00000100139 tier1 - - 57 0 0.00 20 13 39.39 MIR196A1 0 genome.wustl.edu 37 17 46709888 46709888 + RNA DEL C C - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 46709888 46709888 C - DEL MIR196A1 ENST00000388006 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR196A1 HGNC ENSG00000210741 tier1 27 0 0.00 1 2 66.67 MRE11A 0 genome.wustl.edu 37 11 94211984 94211984 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 94211984 94211984 C T SNP MRE11A ENST00000323929 human ensembl 74_37 -1 known missense c.461 p.G154E 1.000 pfam_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 pfam_Mre11_DNA-bd,pfam_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 - no_errors MRE11A HGNC ENSG00000020922 tier1 - - 56 0 0.00 45 5 10.00 MRGPRX3 0 genome.wustl.edu 37 11 18159251 18159251 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 18159251 18159251 G A SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known missense c.502 p.A168T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 tier1 - - 214 0 0.00 56 111 66.47 MRPL45P2 0 genome.wustl.edu 37 17 45569821 45569821 + RNA SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 45569821 45569821 G A SNP MRPL45P2 ENST00000425159 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors MRPL45P2 HGNC ENSG00000228782 tier1 - - 181 0 0.00 53 24 31.17 MUC16 0 genome.wustl.edu 37 19 9065516 9065516 + Missense_Mutation SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 9065516 9065516 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.21930 p.I7310M 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 72 0 0.00 25 16 39.02 MUC16 0 genome.wustl.edu 37 19 9071599 9071599 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 9071599 9071599 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.15847 p.T5283A 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 133 0 0.00 80 6 6.98 MYH2 0 genome.wustl.edu 37 17 10451167 10451167 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 10451167 10451167 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.71 p.R24H 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 rs141174023 - 114 0 0.00 84 19 18.45 MYOM2 0 genome.wustl.edu 37 8 2024315 2024315 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 2024315 2024315 G A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.1215 p.P405 0.015 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 tier1 - - 33 0 0.00 23 10 30.30 MYOM2 0 genome.wustl.edu 37 8 2088785 2088785 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 2088785 2088785 C T SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.3940 p.R1314C 0.169 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 tier1 rs142380219 - 102 0 0.00 56 18 24.32 MYOM3 0 genome.wustl.edu 37 1 24400670 24400671 + Frame_Shift_Ins INS - - T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 24400670 24400671 - T INS MYOM3 ENST00000330966 human ensembl 74_37 -1 known frame_shift_ins c.2951_2950 p.S984fs 1.000:0.997 smart_Ig_sub pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 tier1 170 0 0.00 85 9 9.57 NAV1 0 genome.wustl.edu 37 1 201759875 201759875 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 201759875 201759875 C T SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.3302 p.T1101M 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 tier1 - - 122 0 0.00 117 25 17.61 NBEAL2 0 genome.wustl.edu 37 3 47043985 47043985 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 47043985 47043985 G A SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.5276 p.R1759H 0.708 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 tier1 - - 86 0 0.00 36 14 28.00 NDST4 0 genome.wustl.edu 37 4 115997436 115997437 + Frame_Shift_Del DEL AG AG - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 4 115997436 115997437 AG - DEL NDST4 ENST00000264363 human ensembl 74_37 -1 known frame_shift_del c.757_756 p.F253fs 0.967:0.635 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 tier1 193 0 0.00 72 40 35.71 NDUFB5 0 genome.wustl.edu 37 3 179322615 179322615 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 179322615 179322615 G A SNP NDUFB5 ENST00000259037 human ensembl 74_37 +1 known missense c.12 p.M4I 1.000 pfam_NADH_UbQ_OxRdtase_B5_su pfam_NADH_UbQ_OxRdtase_B5_su - no_errors NDUFB5 HGNC ENSG00000136521 tier1 - - 90 0 0.00 67 29 30.21 NEB 0 genome.wustl.edu 37 2 152490448 152490448 + Missense_Mutation SNP A A T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 152490448 152490448 A T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.9134 p.L3045H 0.874 pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 201 0 0.00 161 55 25.46 NEDD4L 0 genome.wustl.edu 37 18 56002735 56002735 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 18 56002735 56002735 G A SNP NEDD4L ENST00000400345 human ensembl 74_37 +1 known missense c.1091 p.R364H 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom,prints_C2_dom - no_errors NEDD4L HGNC ENSG00000049759 tier1 - - 151 0 0.00 114 6 5.00 NFASC 0 genome.wustl.edu 37 1 204923458 204923458 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 204923458 204923458 G A SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.358 p.A120T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 tier1 - - 45 0 0.00 45 23 33.82 NHSL2 0 genome.wustl.edu 37 X 71358769 71358769 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 71358769 71358769 C T SNP NHSL2 ENST00000540800 human ensembl 74_37 +1 known silent c.1371 p.Y457 0.848 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 tier1 - - 22 0 0.00 14 4 22.22 NLGN4X 0 genome.wustl.edu 37 X 5811198 5811198 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 5811198 5811198 C T SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.2171 p.R724H 0.997 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 tier1 - - 67 0 0.00 27 4 12.90 NOS1 0 genome.wustl.edu 37 12 117718637 117718637 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 12 117718637 117718637 C T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.1417 p.G473S 0.999 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 - - 102 0 0.00 66 8 10.81 NR2F1 0 genome.wustl.edu 37 5 92923850 92923850 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 92923850 92923850 G A SNP NR2F1 ENST00000327111 human ensembl 74_37 +1 known missense c.691 p.V231I 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_COUP_TF,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F1 HGNC ENSG00000175745 tier1 - - 165 0 0.00 57 34 37.36 NRG1 0 genome.wustl.edu 37 8 32617751 32617751 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 32617751 32617751 C T SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known silent c.1119 p.S373 0.048 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 tier1 - - 170 0 0.00 95 36 27.48 NRGN 0 genome.wustl.edu 37 11 124615536 124615536 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 124615536 124615536 C T SNP NRGN ENST00000284292 human ensembl 74_37 +1 known silent c.153 p.R51 0.785 pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors NRGN HGNC ENSG00000154146 tier1 - - 25 0 0.00 34 6 15.00 NRK 0 genome.wustl.edu 37 X 105153078 105153078 + Missense_Mutation SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 105153078 105153078 A G SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.1448 p.Q483R 0.892 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 tier1 - - 35 0 0.00 10 14 58.33 NRXN3 0 genome.wustl.edu 37 14 79933651 79933651 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 14 79933651 79933651 G A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.3317 p.R1106H 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 tier1 - - 127 0 0.00 84 24 22.22 NTNG1 0 genome.wustl.edu 37 1 107691401 107691401 + Missense_Mutation SNP A A T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 107691401 107691401 A T SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known missense c.186 p.K62N 1.000 smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 tier1 - - 155 0 0.00 73 43 37.07 NUP188 0 genome.wustl.edu 37 9 131745578 131745578 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 131745578 131745578 G A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known silent c.1803 p.T601 0.011 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 tier1 - - 180 0 0.00 119 11 8.46 NUP210 0 genome.wustl.edu 37 3 13368918 13368918 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 13368918 13368918 C T SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.4306 p.G1436R 0.058 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 tier1 - - 49 0 0.00 15 11 42.31 NXF3 0 genome.wustl.edu 37 X 102334518 102334518 + Missense_Mutation SNP C C A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 102334518 102334518 C A SNP NXF3 ENST00000395065 human ensembl 74_37 -1 known missense c.1213 p.D405Y 1.000 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_Tap_RNA-bd,pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF3 HGNC ENSG00000147206 tier1 - - 157 0 0.00 127 8 5.93 OLFM3 0 genome.wustl.edu 37 1 102290705 102290705 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 102290705 102290705 T G SNP OLFM3 ENST00000338858 human ensembl 74_37 -1 known missense c.529 p.I177L 1.000 superfamily_Quino_amine_DH_bsu pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 tier1 - - 59 0 0.00 30 13 30.23 OLFML2A 0 genome.wustl.edu 37 9 127572575 127572575 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 127572575 127572575 C T SNP OLFML2A ENST00000373580 human ensembl 74_37 +1 known missense c.1843 p.P615S 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 tier1 - - 146 0 0.00 86 5 5.49 OR1S2 0 genome.wustl.edu 37 11 57971241 57971241 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 57971241 57971241 G A SNP OR1S2 ENST00000302592 human ensembl 74_37 -1 known missense c.413 p.A138V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1S2 HGNC ENSG00000197887 tier1 - - 167 0 0.00 119 32 21.19 OR2A42 0 genome.wustl.edu 37 7 143929624 143929624 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 7 143929624 143929624 T C SNP OR2A42 ENST00000391496 human ensembl 74_37 -1 known missense c.313 p.S105G 0.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2A42 HGNC ENSG00000212807 tier1 - - 66 0 0.00 24 75 75.76 OR2L3 0 genome.wustl.edu 37 1 248224727 248224727 + Silent SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 248224727 248224727 T G SNP OR2L3 ENST00000359959 human ensembl 74_37 +1 known silent c.744 p.T248 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC ENSG00000198128 tier1 - - 163 0 0.00 173 24 12.18 OR2M5 0 genome.wustl.edu 37 1 248308867 248308867 + Missense_Mutation SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 248308867 248308867 A C SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known missense c.418 p.I140L 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 tier1 - - 472 0 0.00 330 116 26.01 OR2W3 0 genome.wustl.edu 37 1 248059069 248059069 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 248059069 248059069 T G SNP OR2W3 ENST00000360358 human ensembl 74_37 +1 known missense c.181 p.F61V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2W3 HGNC ENSG00000238243 tier1 - - 283 0 0.00 162 154 48.58 OR4A47 0 genome.wustl.edu 37 11 48510551 48510551 + Silent SNP C C A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 48510551 48510551 C A SNP OR4A47 ENST00000446524 human ensembl 74_37 +1 known silent c.207 p.I69 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A47 HGNC ENSG00000237388 tier1 - - 71 0 0.00 57 23 28.75 OR4D2 0 genome.wustl.edu 37 17 56247869 56247869 + Missense_Mutation SNP A A T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 56247869 56247869 A T SNP OR4D2 ENST00000545221 human ensembl 74_37 +1 known missense c.853 p.M285L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D2 HGNC ENSG00000255713 tier1 - - 219 0 0.00 131 12 8.39 OR52A5 0 genome.wustl.edu 37 11 5153681 5153681 + Silent SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 5153681 5153681 A G SNP OR52A5 ENST00000307388 human ensembl 74_37 -1 known silent c.192 p.F64 0.007 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A5 HGNC ENSG00000171944 tier1 - - 98 0 0.00 14 70 83.33 OR5H15 0 genome.wustl.edu 37 3 97888236 97888236 + Missense_Mutation SNP T T A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 97888236 97888236 T A SNP OR5H15 ENST00000356526 human ensembl 74_37 +1 known missense c.693 p.D231E 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H15 HGNC ENSG00000233412 57 0 0.00 52 4 7.14 OR5K4 0 genome.wustl.edu 37 3 98073198 98073198 + Silent SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 98073198 98073198 T G SNP OR5K4 ENST00000354924 human ensembl 74_37 +1 known silent c.501 p.T167 0.143 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K4 HGNC ENSG00000196098 tier1 - - 92 0 0.00 75 17 18.48 P2RY8 0 genome.wustl.edu 37 X 1584485 1584485 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 1584485 1584485 C T SNP P2RY8 ENST00000381297 human ensembl 74_37 -1 known missense c.967 p.E323K 0.246 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors P2RY8 HGNC ENSG00000182162 tier1 - - 215 0 0.00 125 39 23.78 PABPC5 0 genome.wustl.edu 37 X 90691229 90691229 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 90691229 90691229 T G SNP PABPC5 ENST00000312600 human ensembl 74_37 +1 known missense c.653 p.L218R 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 tier1 - - 60 0 0.00 10 20 66.67 PBLD 0 genome.wustl.edu 37 10 70045124 70045124 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 10 70045124 70045124 C T SNP PBLD ENST00000309049 human ensembl 74_37 -1 known silent c.735 p.L245 1.000 pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF - no_errors PBLD HGNC ENSG00000108187 tier1 - - 167 0 0.00 141 39 21.67 PCDH9 0 genome.wustl.edu 37 13 66879023 66879023 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 13 66879023 66879023 T G SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.3478 p.T1160P 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 196 0 0.00 71 163 69.66 PCDHAC2 0 genome.wustl.edu 37 5 140346635 140346635 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 140346635 140346635 C T SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known missense c.284 p.T95M 0.015 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 tier1 - - 83 0 0.00 33 12 26.67 PCDHGA1 0 genome.wustl.edu 37 5 140712192 140712192 + Missense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 140712192 140712192 G T SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known missense c.1941 p.Q647H 0.994 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 tier1 - - 134 0 0.00 65 20 23.53 PCDHGA1 0 genome.wustl.edu 37 5 140712478 140712478 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 140712478 140712478 G A SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known missense c.2227 p.V743M 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 tier1 - - 194 0 0.00 102 47 31.33 PDZD4 0 genome.wustl.edu 37 X 153069654 153069654 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 153069654 153069654 G A SNP PDZD4 ENST00000164640 human ensembl 74_37 -1 known silent c.1464 p.P488 0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 tier1 - - 28 0 0.00 6 7 53.85 PEG3 0 genome.wustl.edu 37 19 57328029 57328029 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 57328029 57328029 C T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.1781 p.R594H 0.015 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 tier1 - - 77 0 0.00 30 23 43.40 PGA3 0 genome.wustl.edu 37 11 60975078 60975078 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 60975078 60975078 C T SNP PGA3 ENST00000325558 human ensembl 74_37 +1 known silent c.447 p.D149 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors PGA3 HGNC ENSG00000229859 tier1 - - 70 0 0.00 36 15 28.85 PI4KA 0 genome.wustl.edu 37 22 21084264 21084264 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 22 21084264 21084264 C T SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.4324 p.V1442I 0.987 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 tier1 - - 70 0 0.00 36 17 32.08 PLCG2 0 genome.wustl.edu 37 16 81914544 81914544 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 16 81914544 81914544 C T SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known silent c.678 p.S226 0.013 pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 tier1 rs111553163 - 159 0 0.00 130 10 7.14 PLEK 0 genome.wustl.edu 37 2 68620325 68620325 + Missense_Mutation SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 68620325 68620325 A G SNP PLEK ENST00000234313 human ensembl 74_37 +1 known missense c.794 p.K265R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology - no_errors PLEK HGNC ENSG00000115956 tier1 - - 240 0 0.00 119 108 47.58 PLXNA4 0 genome.wustl.edu 37 7 131913116 131913116 + Missense_Mutation SNP A A T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 7 131913116 131913116 A T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.1717 p.Y573N 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 tier1 - - 83 0 0.00 66 8 10.81 PNPLA5 0 genome.wustl.edu 37 22 44280192 44280192 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 22 44280192 44280192 C T SNP PNPLA5 ENST00000216177 human ensembl 74_37 -1 known missense c.983 p.R328Q 0.001 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA5 HGNC ENSG00000100341 tier1 - - 201 0 0.00 104 32 23.36 PON1 0 genome.wustl.edu 37 7 95023980 95023980 + Missense_Mutation SNP T T A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 7 95023980 95023980 T A SNP PON1 ENST00000542556 human ensembl 74_37 -1 known missense c.121 p.N41Y 0.049 NULL pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2,prints_Paraoxonase1 - no_errors PON1 HGNC ENSG00000005421 tier1 - - 66 0 0.00 40 14 25.93 POTEG 0 genome.wustl.edu 37 14 19553823 19553823 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 14 19553823 19553823 G A SNP POTEG ENST00000409832 human ensembl 74_37 +1 known missense c.407 p.R136H 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEG HGNC ENSG00000222036 286 0 0.00 291 22 7.03 POU4F2 0 genome.wustl.edu 37 4 147561615 147561615 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 4 147561615 147561615 C T SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known silent c.885 p.S295 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 tier1 - - 115 0 0.00 58 5 7.94 PPP1R13L 0 genome.wustl.edu 37 19 45895561 45895561 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 45895561 45895561 C T SNP PPP1R13L ENST00000360957 human ensembl 74_37 -1 known silent c.1392 p.P464 0.036 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC ENSG00000104881 tier1 - - 94 0 0.00 47 6 11.32 PREX2 0 genome.wustl.edu 37 8 69012017 69012017 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 69012017 69012017 T G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.2654 p.F885C 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 167 0 0.00 100 26 20.63 PRF1 0 genome.wustl.edu 37 10 72360130 72360130 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 10 72360130 72360130 G A SNP PRF1 ENST00000373209 human ensembl 74_37 -1 known missense c.529 p.R177C 0.206 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom - no_errors PRF1 HGNC ENSG00000180644 tier1 rs201468340 - 74 0 0.00 43 20 31.75 PROX1 0 genome.wustl.edu 37 1 214171022 214171022 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 214171022 214171022 G A SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.1144 p.V382I 1.000 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 tier1 - - 138 0 0.00 111 39 26.00 PRRC2A 0 genome.wustl.edu 37 6 31599480 31599480 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 6 31599480 31599480 G A SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known silent c.3030 p.R1010 0.781 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 tier1 - - 46 0 0.00 33 12 26.67 PTBP1 0 genome.wustl.edu 37 19 804617 804617 + Missense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 804617 804617 G T SNP PTBP1 ENST00000356948 human ensembl 74_37 +1 known missense c.521 p.G174V 0.977 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 tier1 - - 223 0 0.00 137 10 6.80 PUS3 0 genome.wustl.edu 37 11 125765595 125765595 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 125765595 125765595 T G SNP PUS3 ENST00000227474 human ensembl 74_37 -1 known missense c.468 p.E156D 0.090 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 PUS3 HGNC ENSG00000110060 tier1 - - 233 0 0.00 46 157 77.34 PXDN 0 genome.wustl.edu 37 2 1670114 1670114 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 1670114 1670114 C T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.1163 p.R388Q 0.992 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 tier1 - - 78 0 0.00 52 22 29.73 PYGO2 0 genome.wustl.edu 37 1 154931350 154931350 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 154931350 154931350 C T SNP PYGO2 ENST00000368457 human ensembl 74_37 -1 known missense c.1126 p.V376I 0.996 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO2 HGNC ENSG00000163348 tier1 - - 96 0 0.00 44 40 47.62 PZP 0 genome.wustl.edu 37 12 9354925 9354925 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 12 9354925 9354925 C T SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.470 p.R157Q 0.024 pfam_A2M_N pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 tier1 - - 70 0 0.00 13 34 72.34 RAB40A 0 genome.wustl.edu 37 X 102755664 102755664 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 102755664 102755664 G A SNP RAB40A ENST00000304236 human ensembl 74_37 -1 known silent c.21 p.P7 0.971 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,prints_Small_GTPase,pfscan_SOCS_C,tigrfam_Small_GTP-bd_dom - no_errors RAB40A HGNC ENSG00000172476 tier1 - - 82 0 0.00 20 43 68.25 RAE1 0 genome.wustl.edu 37 20 55942076 55942076 + Nonsense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 20 55942076 55942076 C T SNP RAE1 ENST00000371242 human ensembl 74_37 +1 known nonsense c.475 p.R159* 0.999 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RAE1 HGNC ENSG00000101146 tier1 - - 134 0 0.00 181 20 9.95 RALGAPB 0 genome.wustl.edu 37 20 37144919 37144919 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 20 37144919 37144919 G A SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known silent c.957 p.P319 0.736 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 tier1 rs146906566 - 159 0 0.00 220 35 13.73 RASA3 0 genome.wustl.edu 37 13 114757999 114757999 + Missense_Mutation SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 13 114757999 114757999 A C SNP RASA3 ENST00000334062 human ensembl 74_37 -1 known missense c.2207 p.L736R 0.998 NULL pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 tier1 - - 79 0 0.00 119 10 7.75 RASL10B 0 genome.wustl.edu 37 17 34068087 34068087 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 34068087 34068087 C T SNP RASL10B ENST00000268864 human ensembl 74_37 +1 known silent c.375 p.I125 1.000 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RASL10B HGNC ENSG00000141150 tier1 - - 80 0 0.00 64 5 7.25 RBM10 0 genome.wustl.edu 37 X 47044603 47044603 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 47044603 47044603 G A SNP RBM10 ENST00000377604 human ensembl 74_37 +1 known silent c.2100 p.K700 1.000 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 tier1 - - 49 0 0.00 9 22 70.97 RBM11 0 genome.wustl.edu 37 21 15599581 15599581 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 21 15599581 15599581 G A SNP RBM11 ENST00000400577 human ensembl 74_37 +1 known silent c.813 p.K271 0.955 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM11 HGNC ENSG00000185272 tier1 - - 127 0 0.00 62 16 20.51 RETNLB 0 genome.wustl.edu 37 3 108475996 108475996 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 108475996 108475996 G A SNP RETNLB ENST00000295755 human ensembl 74_37 -1 known missense c.37 p.P13S 0.770 pfam_Resistin pfam_Resistin,superfamily_Resistin - no_errors RETNLB HGNC ENSG00000163515 tier1 - - 84 0 0.00 43 17 28.33 RFX7 0 genome.wustl.edu 37 15 56386211 56386211 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 15 56386211 56386211 C T SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known missense c.3715 p.A1239T 0.128 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 tier1 - - 127 0 0.00 86 13 13.13 RIMS1 0 genome.wustl.edu 37 6 72678732 72678732 + Silent SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 6 72678732 72678732 A C SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known silent c.211 p.R71 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 152 0 0.00 121 8 6.20 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 tier1 295 0 0.00 166 27 13.99 SALL1 0 genome.wustl.edu 37 16 51175655 51175655 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 16 51175655 51175655 C T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.478 p.G160S 0.005 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 rs199760974 - 85 0 0.00 51 6 10.53 SAMSN1 0 genome.wustl.edu 37 21 15882692 15882692 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 21 15882692 15882692 C T SNP SAMSN1 ENST00000400566 human ensembl 74_37 -1 known missense c.500 p.R167H 0.999 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SAMSN1 HGNC ENSG00000155307 tier1 - - 115 0 0.00 68 21 23.60 SCARA5 0 genome.wustl.edu 37 8 27779562 27779562 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 27779562 27779562 G A SNP SCARA5 ENST00000354914 human ensembl 74_37 -1 known missense c.442 p.R148W 0.898 NULL pfam_SRCR,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors SCARA5 HGNC ENSG00000168079 tier1 - - 26 0 0.00 13 4 23.53 SDPR 0 genome.wustl.edu 37 2 192701336 192701336 + Silent SNP C C A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 192701336 192701336 C A SNP SDPR ENST00000304141 human ensembl 74_37 -1 known silent c.591 p.L197 1.000 NULL NULL - no_errors SDPR HGNC ENSG00000168497 tier1 - - 85 0 0.00 81 17 17.35 SETBP1 0 genome.wustl.edu 37 18 42529959 42529959 + Missense_Mutation SNP C C A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 18 42529959 42529959 C A SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.654 p.N218K 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 tier1 - - 103 0 0.00 27 37 56.92 SGCE 0 genome.wustl.edu 37 7 94229960 94229960 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 7 94229960 94229960 G A SNP SGCE ENST00000445866 human ensembl 74_37 -1 known silent c.1035 p.G345 0.998 pfam_Sarcoglycan_2 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCE HGNC ENSG00000127990 29 0 0.00 32 4 11.11 SHISA2 0 genome.wustl.edu 37 13 26621012 26621012 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 13 26621012 26621012 G A SNP SHISA2 ENST00000319420 human ensembl 74_37 -1 known missense c.527 p.S176L 0.995 NULL NULL - no_errors SHISA2 HGNC ENSG00000180730 tier1 - - 167 0 0.00 243 26 9.67 SIPA1L3 0 genome.wustl.edu 37 19 38573183 38573183 + Frame_Shift_Del DEL C C - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 38573183 38573183 C - DEL SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known frame_shift_del c.978 p.P328fs 0.983 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 tier1 93 0 0.00 62 9 12.68 SLC17A9 0 genome.wustl.edu 37 20 61594000 61594000 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 20 61594000 61594000 C T SNP SLC17A9 ENST00000370351 human ensembl 74_37 +1 known silent c.522 p.G174 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A9 HGNC ENSG00000101194 tier1 - - 244 0 0.00 232 83 26.35 SLC19A1 0 genome.wustl.edu 37 21 46951916 46951918 + In_Frame_Del DEL CAG CAG - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 21 46951916 46951918 CAG - DEL SLC19A1 ENST00000311124 human ensembl 74_37 -1 known in_frame_del c.336_334 p.L112in_frame_del 0.002:0.005:0.002 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC ENSG00000173638 tier1 73 0 0.00 30 3 9.09 SLC39A5 0 genome.wustl.edu 37 12 56630233 56630233 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 12 56630233 56630233 G A SNP SLC39A5 ENST00000266980 human ensembl 74_37 +1 known silent c.999 p.E333 0.971 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 tier1 - - 146 0 0.00 106 20 15.87 SLC44A4 0 genome.wustl.edu 37 6 31833521 31833521 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 6 31833521 31833521 T C SNP SLC44A4 ENST00000229729 human ensembl 74_37 -1 known missense c.1528 p.T510A 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 tier1 - - 267 0 0.00 153 30 16.39 SLC5A9 0 genome.wustl.edu 37 1 48713097 48713097 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 48713097 48713097 C T SNP SLC5A9 ENST00000236495 human ensembl 74_37 +1 known missense c.2003 p.A668V 0.889 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 tier1 - - 82 0 0.00 47 15 24.19 SNORD115-30 0 genome.wustl.edu 37 15 25470369 25470369 + RNA SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 15 25470369 25470369 T C SNP SNORD115-30 ENST00000364117 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors SNORD115-30 HGNC ENSG00000200987 tier1 - - 423 0 0.00 171 74 30.20 SPATC1 0 genome.wustl.edu 37 8 145095740 145095740 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 145095740 145095740 C T SNP SPATC1 ENST00000377470 human ensembl 74_37 +1 known silent c.1038 p.A346 0.000 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 tier1 - - 39 0 0.00 21 8 27.59 STXBP5L 0 genome.wustl.edu 37 3 120941908 120941908 + Missense_Mutation SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 120941908 120941908 A C SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.1015 p.S339R 1.000 pfam_LLGL2,superfamily_WD40_repeat_dom,prints_Lethal2_giant pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 tier1 - - 96 0 0.00 46 40 46.51 SYNPO 0 genome.wustl.edu 37 5 150029807 150029807 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 150029807 150029807 G A SNP SYNPO ENST00000394243 human ensembl 74_37 +1 known missense c.2702 p.R901Q 1.000 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 tier1 - - 184 0 0.00 76 36 32.14 SYNPO2 0 genome.wustl.edu 37 4 119947975 119947975 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 4 119947975 119947975 G A SNP SYNPO2 ENST00000307142 human ensembl 74_37 +1 known missense c.451 p.D151N 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 tier1 - - 87 0 0.00 30 16 34.78 TDRD9 0 genome.wustl.edu 37 14 104441873 104441873 + Frame_Shift_Del DEL C C - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 14 104441873 104441873 C - DEL TDRD9 ENST00000409874 human ensembl 74_37 +1 known frame_shift_del c.994 p.H332fs 0.007 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TDRD9 HGNC ENSG00000156414 tier1 22 0 0.00 19 2 9.52 TEX10 0 genome.wustl.edu 37 9 103092225 103092225 + Nonsense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 103092225 103092225 G A SNP TEX10 ENST00000374902 human ensembl 74_37 -1 known nonsense c.1477 p.Q493* 1.000 superfamily_ARM-type_fold pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 tier1 - - 270 0 0.00 125 89 41.59 TGM4 0 genome.wustl.edu 37 3 44951844 44951844 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 44951844 44951844 G A SNP TGM4 ENST00000296125 human ensembl 74_37 +1 known silent c.1590 p.S530 0.000 superfamily_Transglutaminase_C pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM4 HGNC ENSG00000163810 tier1 - - 85 0 0.00 51 19 27.14 THSD7B 0 genome.wustl.edu 37 2 138169183 138169183 + Silent SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 138169183 138169183 A G SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known silent c.2700 p.K900 0.991 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 118 0 0.00 82 22 21.15 TMEM132A 0 genome.wustl.edu 37 11 60701099 60701099 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 60701099 60701099 G A SNP TMEM132A ENST00000005286 human ensembl 74_37 +1 known missense c.1445 p.R482Q 1.000 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 tier1 - - 76 0 0.00 33 16 32.65 TMEM182 0 genome.wustl.edu 37 2 103414389 103414389 + Missense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 103414389 103414389 G T SNP TMEM182 ENST00000412401 human ensembl 74_37 +1 known missense c.399 p.L133F 1.000 NULL NULL - no_errors TMEM182 HGNC ENSG00000170417 tier1 - - 138 0 0.00 106 15 12.40 TMEM239 0 genome.wustl.edu 37 20 2795930 2795930 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 20 2795930 2795930 C T SNP TMEM239 ENST00000554164 human ensembl 74_37 +1 known missense c.100 p.R34C 0.000 NULL NULL - no_errors TMEM239 HGNC ENSG00000198326 tier1 - - 336 0 0.00 305 45 12.86 TMPRSS15 0 genome.wustl.edu 37 21 19725236 19725236 + Silent SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 21 19725236 19725236 A C SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known silent c.1155 p.T385 0.999 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 tier1 - - 192 0 0.00 47 78 62.40 TNFSF8 0 genome.wustl.edu 37 9 117666471 117666471 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 117666471 117666471 C T SNP TNFSF8 ENST00000223795 human ensembl 74_37 -1 known missense c.445 p.V149I 0.133 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_CD30_ligand_type,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_CD30_ligand_type,pfscan_TNF_dom - no_errors TNFSF8 HGNC ENSG00000106952 tier1 - - 191 0 0.00 81 42 34.15 TOP2B 0 genome.wustl.edu 37 3 25670621 25670621 + Missense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 25670621 25670621 G T SNP TOP2B ENST00000264331 human ensembl 74_37 -1 known missense c.1705 p.H569N 1.000 superfamily_Topo_IIA_like_dom,smart_Topo_IIA,prints_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 tier1 - - 139 0 0.00 73 22 23.16 TP53 0 genome.wustl.edu 37 17 7578521 7578523 + In_Frame_Del DEL GTT GTT - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 7578521 7578523 GTT - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known in_frame_del c.409_407 p.Q136in_frame_del 0.998:1.000:1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 85 0 0.00 23 36 61.02 TRAPPC9 0 genome.wustl.edu 37 8 141461087 141461087 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 141461087 141461087 C T SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known missense c.680 p.R227H 1.000 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 tier1 - - 89 0 0.00 38 49 56.32 TRIB2 0 genome.wustl.edu 37 2 12863597 12863597 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 12863597 12863597 C T SNP TRIB2 ENST00000155926 human ensembl 74_37 +1 known missense c.482 p.S161L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TRIB2 HGNC ENSG00000071575 tier1 - - 153 0 0.00 66 65 49.62 TRIM27 0 genome.wustl.edu 37 6 28887843 28887843 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 6 28887843 28887843 G A SNP TRIM27 ENST00000377199 human ensembl 74_37 -1 known silent c.693 p.S231 0.949 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM27 HGNC ENSG00000204713 tier1 - - 228 0 0.00 169 11 6.11 TRIM31 0 genome.wustl.edu 37 6 30079499 30079499 + Nonsense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 6 30079499 30079499 G A SNP TRIM31 ENST00000376734 human ensembl 74_37 -1 known nonsense c.439 p.Q147* 0.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,prints_Znf_B-box_chordata,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM31 HGNC ENSG00000204616 tier1 - - 245 0 0.00 157 47 23.04 TRPA1 0 genome.wustl.edu 37 8 72973967 72973967 + Silent SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 72973967 72973967 A G SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known silent c.837 p.A279 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 75 0 0.00 64 16 20.00 TSHZ2 0 genome.wustl.edu 37 20 51870861 51870861 + Missense_Mutation SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 20 51870861 51870861 A C SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.864 p.Q288H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 tier1 - - 113 0 0.00 78 29 26.85 TTN 0 genome.wustl.edu 37 2 179432014 179432014 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 179432014 179432014 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.71141 p.K23714T 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 290 0 0.00 128 122 48.80 TTN 0 genome.wustl.edu 37 2 179441341 179441341 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 179441341 179441341 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.61926 p.Y20642 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 308 0 0.00 198 52 20.80 TTN 0 genome.wustl.edu 37 2 179579117 179579117 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 179579117 179579117 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.22652 p.Q7551P 0.964 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 77 0 0.00 86 5 5.49 TTN 0 genome.wustl.edu 37 2 179610611 179610612 + Frame_Shift_Ins INS - - A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 179610611 179610612 - A INS TTN ENST00000360870 human ensembl 74_37 -1 known frame_shift_ins c.16516_16515 p.E5505fs 1.000:1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 160 0 0.00 156 34 17.89 TTN 0 genome.wustl.edu 37 2 179616598 179616598 + Missense_Mutation SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 179616598 179616598 A C SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.10529 p.L3510R 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 140 0 0.00 81 74 47.74 TTN 0 genome.wustl.edu 37 2 179646951 179646951 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 179646951 179646951 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.3368 p.T1123I 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 107 0 0.00 102 6 5.56 UGGT1 0 genome.wustl.edu 37 2 128903421 128903421 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 128903421 128903421 C T SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known silent c.1896 p.P632 0.636 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 tier1 - - 150 0 0.00 142 8 5.33 USH2A 0 genome.wustl.edu 37 1 215847886 215847886 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 215847886 215847886 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.13367 p.G4456D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 154 0 0.00 110 37 25.17 USH2A 0 genome.wustl.edu 37 1 216420133 216420133 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 216420133 216420133 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.2603 p.C868Y 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 231 0 0.00 197 75 27.57 USP32 0 genome.wustl.edu 37 17 58303555 58303555 + Frame_Shift_Del DEL A A - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 58303555 58303555 A - DEL USP32 ENST00000300896 human ensembl 74_37 -1 known frame_shift_del c.1277 p.L426fs 0.999 pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 tier1 101 0 0.00 63 20 24.10 VCX3A 0 genome.wustl.edu 37 X 6451831 6451831 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 6451831 6451831 T G SNP VCX3A ENST00000381089 human ensembl 74_37 -1 known missense c.516 p.E172D 0.119 NULL NULL - no_errors VCX3A HGNC ENSG00000169059 tier1 - - 413 0 0.00 253 63 19.87 VCX3B 0 genome.wustl.edu 37 X 8434349 8434349 + Missense_Mutation SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 8434349 8434349 A C SNP VCX3B ENST00000444481 human ensembl 74_37 +1 known missense c.576 p.E192D 0.000 NULL NULL - no_errors VCX3B HGNC ENSG00000205642 tier1 - - 189 0 0.00 87 31 26.05 VIP 0 genome.wustl.edu 37 6 153077304 153077304 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 6 153077304 153077304 G A SNP VIP ENST00000367244 human ensembl 74_37 +1 known missense c.371 p.R124H 1.000 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors VIP HGNC ENSG00000146469 tier1 - - 118 0 0.00 29 66 68.75 WNT11 0 genome.wustl.edu 37 11 75905828 75905828 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 75905828 75905828 G A SNP WNT11 ENST00000322563 human ensembl 74_37 -1 known missense c.380 p.A127V 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT11 HGNC ENSG00000085741 tier1 - - 17 0 0.00 4 11 73.33 YARS2 0 genome.wustl.edu 37 12 32908208 32908208 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 12 32908208 32908208 G A SNP YARS2 ENST00000324868 human ensembl 74_37 -1 known missense c.601 p.R201W 1.000 pfam_aa-tRNA-synth_Ic,tigrfam_Tyr-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase - no_errors YARS2 HGNC ENSG00000139131 tier1 - - 138 0 0.00 121 27 18.24 ZCCHC13 0 genome.wustl.edu 37 X 73524456 73524456 + Frame_Shift_Del DEL G G - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 73524456 73524456 G - DEL ZCCHC13 ENST00000339534 human ensembl 74_37 +1 known frame_shift_del c.355 p.H120fs 0.957 pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC13 HGNC ENSG00000187969 tier1 60 0 0.00 15 2 11.76 ZDBF2 0 genome.wustl.edu 37 2 207170309 207170309 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 207170309 207170309 T G SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.1057 p.F353V 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 tier1 - - 79 0 0.00 25 39 60.94 ZDHHC3 0 genome.wustl.edu 37 3 44968199 44968199 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 44968199 44968199 C T SNP ZDHHC3 ENST00000296127 human ensembl 74_37 -1 known silent c.966 p.P322 0.998 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC3 HGNC ENSG00000163812 tier1 - - 39 0 0.00 29 10 25.64 ZEB2 0 genome.wustl.edu 37 2 145157532 145157532 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 145157532 145157532 C T SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.1222 p.G408R 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 tier1 - - 116 0 0.00 88 6 6.38 ZFHX4 0 genome.wustl.edu 37 8 77776432 77776432 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 77776432 77776432 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.10482 p.V3494 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 86 0 0.00 46 47 50.54 ZFHX4 0 genome.wustl.edu 37 8 77776774 77776774 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 77776774 77776774 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.10824 p.S3608 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 43 0 0.00 34 4 10.53 ZFP64 0 genome.wustl.edu 37 20 50721677 50721677 + Frame_Shift_Del DEL C C - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 20 50721677 50721677 C - DEL ZFP64 ENST00000371523 human ensembl 74_37 -1 known frame_shift_del c.100 p.E34fs 0.020 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 tier1 16 0 0.00 16 3 15.79 ZMYND15 0 genome.wustl.edu 37 17 4647504 4647507 + Frame_Shift_Del DEL AAAC AAAC - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 AAAC AAAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 4647504 4647507 AAAC - DEL ZMYND15 ENST00000433935 human ensembl 74_37 +1 known frame_shift_del c.1515_1518 p.K507fs 1.000:1.000:1.000:1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND15 HGNC ENSG00000141497 tier1 87 0 0.00 40 13 24.53 ZNF208 0 genome.wustl.edu 37 19 22154247 22154248 + Frame_Shift_Del DEL AG AG - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 22154247 22154248 AG - DEL ZNF208 ENST00000397126 human ensembl 74_37 -1 novel frame_shift_del c.3589_3588 p.Y1197fs 0.000:0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 tier1 60 0 0.00 34 4 10.53 ZNF429 0 genome.wustl.edu 37 19 21720843 21720843 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 21720843 21720843 G A SNP ZNF429 ENST00000358491 human ensembl 74_37 +1 novel missense c.1988 p.R663Q 0.000 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 ZNF429 HGNC ENSG00000197013 tier1 - - 48 0 0.00 11 8 40.00 ZNF586 0 genome.wustl.edu 37 19 58288010 58288010 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 58288010 58288010 G A SNP ZNF586 ENST00000396154 human ensembl 74_37 +1 known missense c.136 p.E46K 0.995 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 ZNF586 HGNC ENSG00000083828 tier1 - - 408 0 0.00 200 53 20.95 ZNF611 0 genome.wustl.edu 37 19 53208740 53208740 + Nonsense_Mutation SNP G G C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 53208740 53208740 G C SNP ZNF611 ENST00000319783 human ensembl 74_37 -1 known nonsense c.1568 p.S523* 0.002 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 ZNF611 HGNC ENSG00000213020 tier1 - - 213 0 0.00 163 10 5.78 ZNF611 0 genome.wustl.edu 37 19 53209177 53209177 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 53209177 53209177 T G SNP ZNF611 ENST00000319783 human ensembl 74_37 -1 known missense c.1131 p.K377N 0.026 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 ZNF611 HGNC ENSG00000213020 tier1 - - 121 0 0.00 38 24 38.71 ZNF765 0 genome.wustl.edu 37 19 53911869 53911869 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 53911869 53911869 C T SNP ZNF765 ENST00000396408 human ensembl 74_37 +1 known missense c.1061 p.P354L 0.990 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 ZNF765 HGNC ENSG00000196417 tier1 - - 217 0 0.00 90 47 34.31 ZNF768 0 genome.wustl.edu 37 16 30535854 30535854 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 16 30535854 30535854 G A SNP ZNF768 ENST00000380412 human ensembl 74_37 -1 known missense c.1607 p.A536V 0.089 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ENSG00000169957 tier1 - - 166 0 0.00 110 32 22.54 ZNF816 0 genome.wustl.edu 37 19 53453937 53453937 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 53453937 53453937 G A SNP ZNF816 ENST00000357666 human ensembl 74_37 -1 known missense c.1091 p.T364I 0.996 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 ZNF816 HGNC ENSG00000180257 tier1 - - 298 0 0.00 111 61 35.47 ZSWIM4 0 genome.wustl.edu 37 19 13910552 13910552 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 13910552 13910552 C T SNP ZSWIM4 ENST00000254323 human ensembl 74_37 +1 known missense c.172 p.R58W 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 tier1 - - 275 0 0.00 99 41 29.29 OLFM3 0 genome.wustl.edu 37 1 102290705 102290705 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 102290705 102290705 T G SNP OLFM3 ENST00000338858 human ensembl 74_37 -1 known missense c.529 p.I177L 1.000 superfamily_Quino_amine_DH_bsu pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 56 0 0 26 12 31.5789 COL11A1 0 genome.wustl.edu 37 1 103385915 103385915 + Silent SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 103385915 103385915 T G SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.3750 p.P1250 0.996 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 151 0 0 89 29 24.5763 NTNG1 0 genome.wustl.edu 37 1 107691401 107691401 + Missense_Mutation SNP A A T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 107691401 107691401 A T SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known missense c.186 p.K62N 1.000 smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 147 0 0 65 42 39.2523 PYGO2 0 genome.wustl.edu 37 1 154931350 154931350 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 154931350 154931350 C T SNP PYGO2 ENST00000368457 human ensembl 74_37 -1 known missense c.1126 p.V376I 0.996 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO2 HGNC ENSG00000163348 85 0 0 42 37 46.8354 RUSC1 0 genome.wustl.edu 37 1 155296507 155296507 + Missense_Mutation SNP G G C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 155296507 155296507 G C SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known missense c.1998 p.E666D 1.000 pfscan_Run 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 209 0 0 173 10 5.46448 DAP3 0 genome.wustl.edu 37 1 155695186 155695186 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 155695186 155695186 G A SNP DAP3 ENST00000343043 human ensembl 74_37 +1 known missense c.284 p.S95N 0.449 superfamily_P-loop_NTPase,prints_Ribosomal_S29_mit pfam_Ribosomal_S23/S29_mit,superfamily_P-loop_NTPase,prints_Ribosomal_S29_mit - no_errors DAP3 HGNC ENSG00000132676 178 0 0 74 103 58.1921 HMCN1 0 genome.wustl.edu 37 1 185934951 185934951 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 185934951 185934951 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.2116 p.V706I 0.988 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 116 0 0 126 8 5.97015 KCNT2 0 genome.wustl.edu 37 1 196250015 196250015 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 196250015 196250015 T C SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.2885 p.E962G 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 51 0 0 57 12 17.3913 CFHR3 0 genome.wustl.edu 37 1 196748349 196748349 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 196748349 196748349 G A SNP CFHR3 ENST00000367425 human ensembl 74_37 +1 known missense c.116 p.R39H 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC ENSG00000116785 86 0 0 59 14 19.1781 NAV1 0 genome.wustl.edu 37 1 201759875 201759875 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 201759875 201759875 C T SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.3302 p.T1101M 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 104 0 0 99 22 18.1818 KDM5B 0 genome.wustl.edu 37 1 202709804 202709804 + Nonsense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 202709804 202709804 G A SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known nonsense c.3190 p.Q1064* 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 95 0 0 83 6 6.74157 NFASC 0 genome.wustl.edu 37 1 204923458 204923458 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 204923458 204923458 G A SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.358 p.A120T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 44 0 0 45 23 33.8235 DSTYK 0 genome.wustl.edu 37 1 205138555 205138555 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 205138555 205138555 G A SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known missense c.1060 p.R354C 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DSTYK HGNC ENSG00000133059 83 0 0 64 23 26.4368 PROX1 0 genome.wustl.edu 37 1 214171022 214171022 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 214171022 214171022 G A SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.1144 p.V382I 1.000 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 127 0 0 102 38 27.1429 CENPF 0 genome.wustl.edu 37 1 214830280 214830280 + Silent SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 214830280 214830280 T C SNP CENPF ENST00000366955 human ensembl 74_37 +1 known silent c.8490 p.T2830 0.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 55 0 0 67 4 5.6338 USH2A 0 genome.wustl.edu 37 1 215847886 215847886 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 215847886 215847886 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.13367 p.G4456D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 150 0 0 107 36 25.1748 USH2A 0 genome.wustl.edu 37 1 216420133 216420133 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 216420133 216420133 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.2603 p.C868Y 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 218 0 0 175 68 27.9835 ENAH 0 genome.wustl.edu 37 1 225707041 225707041 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 225707041 225707041 G A SNP ENAH ENST00000366844 human ensembl 74_37 -1 known missense c.661 p.R221C 0.897 NULL pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors ENAH HGNC ENSG00000154380 183 1 0.543478 140 43 23.4973 PSEN2 0 genome.wustl.edu 37 1 227073248 227073248 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 227073248 227073248 G A SNP PSEN2 ENST00000391872 human ensembl 74_37 +1 known silent c.465 p.T155 0.514 pfam_Peptidase_A22A pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Pept_A22A_PS2,prints_Peptidase_A22A - no_errors PSEN2 HGNC ENSG00000143801 44 0 0 50 3 5.66038 JMJD4 0 genome.wustl.edu 37 1 227921267 227921267 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 227921267 227921267 C T SNP JMJD4 ENST00000366758 human ensembl 74_37 -1 known missense c.808 p.G270S 0.998 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD4 HGNC ENSG00000081692 75 0 0 56 12 17.6471 DISC1 0 genome.wustl.edu 37 1 231906718 231906718 + Silent SNP C C A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 231906718 231906718 C A SNP DISC1 ENST00000439617 human ensembl 74_37 +1 known silent c.1536 p.S512 0.006 superfamily_Prefoldin superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 42 0 0 20 10 33.3333 ACTN2 0 genome.wustl.edu 37 1 236898940 236898940 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 236898940 236898940 G A SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.703 p.V235M 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 87 0 0 94 5 5.05051 OR2W3 0 genome.wustl.edu 37 1 248059069 248059069 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 248059069 248059069 T G SNP OR2W3 ENST00000360358 human ensembl 74_37 +1 known missense c.181 p.F61V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2W3 HGNC ENSG00000238243 248 0 0 137 143 51.0714 OR2L3 0 genome.wustl.edu 37 1 248224727 248224727 + Silent SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 248224727 248224727 T G SNP OR2L3 ENST00000359959 human ensembl 74_37 +1 known silent c.744 p.T248 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC ENSG00000198128 147 0 0 155 21 11.9318 OR2M5 0 genome.wustl.edu 37 1 248308867 248308867 + Missense_Mutation SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 248308867 248308867 A C SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known missense c.418 p.I140L 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 417 0 0 295 106 26.4339 CLSPN 0 genome.wustl.edu 37 1 36219462 36219462 + Missense_Mutation SNP T T A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 36219462 36219462 T A SNP CLSPN ENST00000318121 human ensembl 74_37 -1 known missense c.1655 p.N552I 0.990 NULL NULL - no_errors CLSPN HGNC ENSG00000092853 88 0 0 78 6 7.14286 SLC5A9 0 genome.wustl.edu 37 1 48713097 48713097 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 48713097 48713097 C T SNP SLC5A9 ENST00000236495 human ensembl 74_37 +1 known missense c.2003 p.A668V 0.889 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 81 0 0 43 15 25.8621 C1orf173 0 genome.wustl.edu 37 1 75055517 75055517 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 75055517 75055517 C T SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known silent c.1974 p.P658 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 143 0 0 67 24 26.3736 ELTD1 0 genome.wustl.edu 37 1 79358836 79358836 + Silent SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 79358836 79358836 A C SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known silent c.1788 p.V596 0.999 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 44 0 0 33 13 28.2609 SORCS3 0 genome.wustl.edu 37 10 106960888 106960888 + Missense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 10 106960888 106960888 G T SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.2138 p.C713F 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 49 0 0 31 3 8.82353 FRMD4A 0 genome.wustl.edu 37 10 13900896 13900896 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 10 13900896 13900896 C T SNP FRMD4A ENST00000357447 human ensembl 74_37 -1 known missense c.62 p.R21Q 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 233 1 0.42735 168 49 22.5806 GPR158 0 genome.wustl.edu 37 10 25887644 25887644 + Missense_Mutation SNP C C G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 10 25887644 25887644 C G SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.3089 p.S1030C 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 100 0 0 90 6 6.25 GPR158 0 genome.wustl.edu 37 10 25887851 25887851 + Missense_Mutation SNP C C G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 10 25887851 25887851 C G SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.3296 p.A1099G 0.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 143 0 0 102 6 5.55556 GPRIN2 0 genome.wustl.edu 37 10 46999168 46999168 + Silent SNP C C A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 10 46999168 46999168 C A SNP GPRIN2 ENST00000374314 human ensembl 74_37 +1 known silent c.288 p.G96 0.978 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 126 1 0.787402 98 8 7.54717 PBLD 0 genome.wustl.edu 37 10 70045124 70045124 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 10 70045124 70045124 C T SNP PBLD ENST00000309049 human ensembl 74_37 -1 known silent c.735 p.L245 1.000 pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF - no_errors PBLD HGNC ENSG00000108187 145 0 0 113 32 22.069 PRF1 0 genome.wustl.edu 37 10 72360130 72360130 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 10 72360130 72360130 G A SNP PRF1 ENST00000373209 human ensembl 74_37 -1 known missense c.529 p.R177C 0.206 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom - no_errors PRF1 HGNC ENSG00000180644 69 0 0 39 17 30.3571 CCSER2 0 genome.wustl.edu 37 10 86198417 86198417 + Missense_Mutation SNP C C G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 10 86198417 86198417 C G SNP CCSER2 ENST00000372088 human ensembl 74_37 +1 known missense c.2018 p.T673S 1.000 NULL NULL - no_errors CCSER2 HGNC ENSG00000107771 121 0 0 65 18 21.6867 IFIT2 0 genome.wustl.edu 37 10 91066831 91066831 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 10 91066831 91066831 T C SNP IFIT2 ENST00000371826 human ensembl 74_37 +1 known missense c.1118 p.L373P 0.833 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT2 HGNC ENSG00000119922 128 0 0 59 29 32.9545 KIF20B 0 genome.wustl.edu 37 10 91477407 91477407 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 10 91477407 91477407 C T SNP KIF20B ENST00000416354 human ensembl 74_37 +1 known missense c.1199 p.T400I 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 149 0 0 87 20 18.6916 HTR3A 0 genome.wustl.edu 37 11 113860480 113860480 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 113860480 113860480 G A SNP HTR3A ENST00000355556 human ensembl 74_37 +1 known missense c.1546 p.A516T 1.000 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 141 0 0 29 92 76.0331 KMT2A 0 genome.wustl.edu 37 11 118343828 118343828 + Nonsense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 118343828 118343828 C T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known nonsense c.1954 p.R652* 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 161 1 0.617284 141 27 16.0714 ARHGEF12 0 genome.wustl.edu 37 11 120298810 120298810 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 120298810 120298810 C T SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known missense c.382 p.R128C 1.000 superfamily_PDZ,smart_PDZ pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 280 0 0 305 59 16.2088 TECTA 0 genome.wustl.edu 37 11 121016571 121016571 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 121016571 121016571 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.3851 p.R1284H 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 161 1 0.617284 124 67 35.0785 NRGN 0 genome.wustl.edu 37 11 124615536 124615536 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 124615536 124615536 C T SNP NRGN ENST00000284292 human ensembl 74_37 +1 known silent c.153 p.R51 0.785 pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors NRGN HGNC ENSG00000154146 23 0 0 30 6 16.6667 PUS3 0 genome.wustl.edu 37 11 125765595 125765595 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 125765595 125765595 T G SNP PUS3 ENST00000227474 human ensembl 74_37 -1 known missense c.468 p.E156D 0.090 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 PUS3 HGNC ENSG00000110060 206 0 0 42 137 76.5363 KCNC1 0 genome.wustl.edu 37 11 17793306 17793306 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 17793306 17793306 C T SNP KCNC1 ENST00000265969 human ensembl 74_37 +1 known missense c.665 p.T222M 1.000 prints_K_chnl_volt-dep_Kv3.1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 156 0 0 100 25 20 MRGPRX3 0 genome.wustl.edu 37 11 18159251 18159251 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 18159251 18159251 G A SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known missense c.502 p.A168T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 198 0 0 52 99 65.5629 CHRM4 0 genome.wustl.edu 37 11 46408062 46408062 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 46408062 46408062 C T SNP CHRM4 ENST00000433765 human ensembl 74_37 -1 known missense c.46 p.V16M 0.972 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_M4_rcpt - no_errors CHRM4 HGNC ENSG00000180720 150 0 0 94 32 25.3968 ACP2 0 genome.wustl.edu 37 11 47261735 47261735 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 47261735 47261735 C T SNP ACP2 ENST00000256997 human ensembl 74_37 -1 known missense c.1204 p.V402I 0.901 NULL pfam_His_Pase_superF_clade-2 - no_errors ACP2 HGNC ENSG00000134575 117 1 0.847458 76 20 20.8333 OR4A47 0 genome.wustl.edu 37 11 48510551 48510551 + Silent SNP C C A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 48510551 48510551 C A SNP OR4A47 ENST00000446524 human ensembl 74_37 +1 known silent c.207 p.I69 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A47 HGNC ENSG00000237388 72 0 0 55 21 27.6316 RNH1 0 genome.wustl.edu 37 11 498508 498508 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 498508 498508 C T SNP RNH1 ENST00000354420 human ensembl 74_37 -1 known missense c.905 p.R302Q 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors RNH1 HGNC ENSG00000023191 89 0 0 70 4 5.40541 OR52A5 0 genome.wustl.edu 37 11 5153681 5153681 + Silent SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 5153681 5153681 A G SNP OR52A5 ENST00000307388 human ensembl 74_37 -1 known silent c.192 p.F64 0.007 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A5 HGNC ENSG00000171944 90 0 0 10 59 85.5072 OR1S2 0 genome.wustl.edu 37 11 57971241 57971241 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 57971241 57971241 G A SNP OR1S2 ENST00000302592 human ensembl 74_37 -1 known missense c.413 p.A138V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1S2 HGNC ENSG00000197887 162 0 0 115 29 20.1389 TMEM132A 0 genome.wustl.edu 37 11 60701099 60701099 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 60701099 60701099 G A SNP TMEM132A ENST00000005286 human ensembl 74_37 +1 known missense c.1445 p.R482Q 1.000 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 67 0 0 29 13 30.9524 AHNAK 0 genome.wustl.edu 37 11 62284937 62284937 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 62284937 62284937 C T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.16952 p.S5651N 0.891 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 170 0 0 34 86 71.6667 CCKBR 0 genome.wustl.edu 37 11 6292299 6292299 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 6292299 6292299 C T SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known silent c.1077 p.S359 0.027 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcskin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 139 0 0 112 39 25.8278 GAL3ST3 0 genome.wustl.edu 37 11 65810849 65810849 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 65810849 65810849 G A SNP GAL3ST3 ENST00000312006 human ensembl 74_37 -1 known missense c.425 p.P142L 1.000 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST3 HGNC ENSG00000175229 44 0 0 19 9 32.1429 KDM2A 0 genome.wustl.edu 37 11 67017572 67017572 + Nonsense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 67017572 67017572 G T SNP KDM2A ENST00000529006 human ensembl 74_37 +1 known nonsense c.2071 p.E691* 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 54 0 0 25 9 26.4706 ANKRD13D 0 genome.wustl.edu 37 11 67068830 67068830 + Missense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 67068830 67068830 G T SNP ANKRD13D ENST00000511455 human ensembl 74_37 +1 known missense c.1309 p.V437L 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13D HGNC ENSG00000172932 87 0 0 66 6 8.33333 FADD 0 genome.wustl.edu 37 11 70049581 70049581 + Missense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 70049581 70049581 G T SNP FADD ENST00000301838 human ensembl 74_37 +1 known missense c.16 p.V6L 0.894 pfam_DED,superfamily_DEATH-like_dom,smart_DED,pirsf_FADD,pfscan_DED pfam_Death_domain,pfam_DED,superfamily_DEATH-like_dom,smart_DED,smart_Death_domain,pirsf_FADD,pfscan_Death_domain,pfscan_DED - no_errors FADD HGNC ENSG00000168040 18 0 0 12 3 20 WNT11 0 genome.wustl.edu 37 11 75905828 75905828 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 75905828 75905828 G A SNP WNT11 ENST00000322563 human ensembl 74_37 -1 known missense c.380 p.A127V 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT11 HGNC ENSG00000085741 16 0 0 4 10 71.4286 FAT3 0 genome.wustl.edu 37 11 92531514 92531514 + Missense_Mutation SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 92531514 92531514 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.5335 p.S1779G 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 22 0 0 29 3 9.375 HEPHL1 0 genome.wustl.edu 37 11 93836122 93836122 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 93836122 93836122 G A SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known missense c.2618 p.G873D 1.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 64 0 0 20 49 71.0145 MRE11A 0 genome.wustl.edu 37 11 94211984 94211984 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 11 94211984 94211984 C T SNP MRE11A ENST00000323929 human ensembl 74_37 -1 known missense c.461 p.G154E 1.000 pfam_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 pfam_Mre11_DNA-bd,pfam_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 - no_errors MRE11A HGNC ENSG00000020922 53 0 0 41 5 10.8696 ACACB 0 genome.wustl.edu 37 12 109605781 109605781 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 12 109605781 109605781 C T SNP ACACB ENST00000338432 human ensembl 74_37 +1 known silent c.867 p.N289 0.901 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 71 0 0 56 4 6.66667 NOS1 0 genome.wustl.edu 37 12 117718637 117718637 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 12 117718637 117718637 C T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.1417 p.G473S 0.999 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 97 0 0 56 8 12.5 KRAS 0 genome.wustl.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 12 25398285 25398285 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.34 p.G12S 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 30 0 0 8 9 52.9412 ITPR2 0 genome.wustl.edu 37 12 26551882 26551882 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 12 26551882 26551882 G A SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known silent c.7623 p.I2541 0.995 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 20 0 0 11 13 54.1667 YARS2 0 genome.wustl.edu 37 12 32908208 32908208 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 12 32908208 32908208 G A SNP YARS2 ENST00000324868 human ensembl 74_37 -1 known missense c.601 p.R201W 1.000 pfam_aa-tRNA-synth_Ic,tigrfam_Tyr-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase - no_errors YARS2 HGNC ENSG00000139131 127 0 0 110 26 19.1176 SLC39A5 0 genome.wustl.edu 37 12 56630233 56630233 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 12 56630233 56630233 G A SNP SLC39A5 ENST00000266980 human ensembl 74_37 +1 known silent c.999 p.E333 0.971 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 127 0 0 90 18 16.6667 PZP 0 genome.wustl.edu 37 12 9354925 9354925 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 12 9354925 9354925 C T SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.470 p.R157Q 0.024 pfam_A2M_N pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 59 0 0 12 27 69.2308 RASA3 0 genome.wustl.edu 37 13 114757999 114757999 + Missense_Mutation SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 13 114757999 114757999 A C SNP RASA3 ENST00000334062 human ensembl 74_37 -1 known missense c.2207 p.L736R 0.998 NULL pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 68 0 0 100 9 8.25688 SHISA2 0 genome.wustl.edu 37 13 26621012 26621012 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 13 26621012 26621012 G A SNP SHISA2 ENST00000319420 human ensembl 74_37 -1 known missense c.527 p.S176L 0.995 NULL NULL - no_errors SHISA2 HGNC ENSG00000180730 158 0 0 232 22 8.66142 LOC101930578 0 genome.wustl.edu 37 13 52864001 52864001 + RNA SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 13 52864001 52864001 A G SNP LOC101930578 ENST00000451298 human ensembl 74_37 -1 known rna NULL NULL 0.977 - - - no_errors RP11-248G5.8 Clone_based_vega_gene ENSG00000217576 38 0 0 73 4 5.19481 PCDH9 0 genome.wustl.edu 37 13 66879023 66879023 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 13 66879023 66879023 T G SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.3478 p.T1160P 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 168 0 0 61 129 67.8947 EDNRB 0 genome.wustl.edu 37 13 78492693 78492693 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 13 78492693 78492693 T C SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.16 p.S6G 0.148 prints_ETB_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 46 0 0 68 6 8.10811 EDNRB 0 genome.wustl.edu 37 13 78493594 78493594 + Missense_Mutation SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 13 78493594 78493594 A C SNP EDNRB ENST00000377211 human ensembl 74_37 -1 putative missense c.157 p.F53V 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 87 0 0 97 42 30.2158 ABCC4 0 genome.wustl.edu 37 13 95953527 95953527 + Missense_Mutation SNP C C A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 13 95953527 95953527 C A SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known missense c.42 p.Q14H 0.993 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 35 0 0 69 5 6.75676 POTEG 0 genome.wustl.edu 37 14 19553823 19553823 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 14 19553823 19553823 G A SNP POTEG ENST00000409832 human ensembl 74_37 +1 known missense c.407 p.R136H 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEG HGNC ENSG00000222036 263 0 0 266 22 7.63889 BNIP3P1 0 genome.wustl.edu 37 14 28733726 28733726 + RNA SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 14 28733726 28733726 C T SNP BNIP3P1 ENST00000550043 human ensembl 74_37 +1 known rna NULL NULL 0.091 - - - no_errors BNIP3P1 HGNC ENSG00000197358 18 0 0 10 6 37.5 CFL2 0 genome.wustl.edu 37 14 35182276 35182276 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 14 35182276 35182276 C T SNP CFL2 ENST00000298159 human ensembl 74_37 -1 known silent c.378 p.K126 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin - no_errors CFL2 HGNC ENSG00000165410 18 0 0 2 10 83.3333 FRMD6 0 genome.wustl.edu 37 14 52187080 52187080 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 14 52187080 52187080 C T SNP FRMD6 ENST00000344768 human ensembl 74_37 +1 known silent c.1332 p.D444 1.000 NULL pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 57 0 0 38 23 37.7049 KCNH5 0 genome.wustl.edu 37 14 63269081 63269081 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 14 63269081 63269081 T G SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known missense c.1788 p.E596D 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 99 0 0 30 51 62.963 LTBP2 0 genome.wustl.edu 37 14 75052601 75052601 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 14 75052601 75052601 C T SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known silent c.786 p.P262 0.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 70 0 0 52 3 5.45455 NRXN3 0 genome.wustl.edu 37 14 79933651 79933651 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 14 79933651 79933651 G A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.3317 p.R1106H 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 116 0 0 78 22 22 CHEK2P2 0 genome.wustl.edu 37 15 20488772 20488772 + RNA SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 15 20488772 20488772 G T SNP CHEK2P2 ENST00000555186 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CHEK2P2 HGNC ENSG00000259156 104 0 0 48 17 26.1538 HERC2P3 0 genome.wustl.edu 37 15 20666460 20666460 + RNA SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 15 20666460 20666460 C T SNP HERC2P3 ENST00000428453 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 53 0 0 55 3 5.17241 SNORD115-30 0 genome.wustl.edu 37 15 25470369 25470369 + RNA SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 15 25470369 25470369 T C SNP SNORD115-30 ENST00000364117 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors SNORD115-30 HGNC ENSG00000200987 370 0 0 153 62 28.8372 APBA2 0 genome.wustl.edu 37 15 29346989 29346989 + Missense_Mutation SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 15 29346989 29346989 A G SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known missense c.902 p.K301R 1.000 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 36 0 0 16 14 46.6667 MAP1A 0 genome.wustl.edu 37 15 43815692 43815692 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 15 43815692 43815692 C T SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known missense c.2021 p.A674V 0.997 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 53 0 0 21 11 34.375 RFX7 0 genome.wustl.edu 37 15 56386211 56386211 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 15 56386211 56386211 C T SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known missense c.3715 p.A1239T 0.128 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 119 0 0 80 12 13.0435 AKAP13 0 genome.wustl.edu 37 15 86124595 86124595 + Missense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 15 86124595 86124595 G T SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.3296 p.G1099V 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 112 0 0 52 16 23.5294 TICRR 0 genome.wustl.edu 37 15 90164760 90164760 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 15 90164760 90164760 G A SNP TICRR ENST00000268138 human ensembl 74_37 +1 known silent c.3291 p.S1097 0.212 NULL NULL - no_errors TICRR HGNC ENSG00000140534 51 0 0 31 3 8.82353 ACSM2A 0 genome.wustl.edu 37 16 20471485 20471485 + Missense_Mutation SNP C C A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 16 20471485 20471485 C A SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known missense c.49 p.Q17K 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 70 0 0 50 6 10.7143 ABCA3 0 genome.wustl.edu 37 16 2354102 2354102 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 16 2354102 2354102 G A SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known silent c.1335 p.D445 0.089 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 283 0 0 188 89 32.13 ZNF768 0 genome.wustl.edu 37 16 30535854 30535854 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 16 30535854 30535854 G A SNP ZNF768 ENST00000380412 human ensembl 74_37 -1 known missense c.1607 p.A536V 0.089 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ENSG00000169957 143 0 0 88 29 24.7863 CDH8 0 genome.wustl.edu 37 16 61935321 61935321 + Silent SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 16 61935321 61935321 A G SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known silent c.309 p.D103 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 64 0 0 36 17 32.0755 PLCG2 0 genome.wustl.edu 37 16 81914544 81914544 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 16 81914544 81914544 C T SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known silent c.678 p.S226 0.013 pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 132 0 0 107 8 6.95652 TUBB8P7 0 genome.wustl.edu 37 16 90160898 90160898 + RNA SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 16 90160898 90160898 G A SNP TUBB8P7 ENST00000564451 human ensembl 74_37 +1 known rna NULL NULL 0.062 - - - no_errors TUBB8P7 HGNC ENSG00000261812 51 0 0 27 6 18.1818 LMF1 0 genome.wustl.edu 37 16 920856 920856 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 16 920856 920856 C T SNP LMF1 ENST00000262301 human ensembl 74_37 -1 known missense c.1105 p.V369I 0.565 pfam_LMF pfam_LMF - no_errors LMF1 HGNC ENSG00000103227 53 0 0 47 4 7.84314 MYH2 0 genome.wustl.edu 37 17 10451167 10451167 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 10451167 10451167 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.71 p.R24H 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 107 0 0 75 14 15.7303 FAM222B 0 genome.wustl.edu 37 17 27086035 27086035 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 27086035 27086035 G A SNP FAM222B ENST00000341217 human ensembl 74_37 -1 known silent c.942 p.S314 0.991 NULL NULL - no_errors FAM222B HGNC ENSG00000173065 26 0 0 14 6 30 RASL10B 0 genome.wustl.edu 37 17 34068087 34068087 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 34068087 34068087 C T SNP RASL10B ENST00000268864 human ensembl 74_37 +1 known silent c.375 p.I125 1.000 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RASL10B HGNC ENSG00000141150 76 0 0 58 4 6.45161 ENSG00000266999 0 genome.wustl.edu 37 17 34236389 34236389 + RNA SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 34236389 34236389 C T SNP ENSG00000266999 ENST00000587132 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 69 0 0 31 14 31.1111 MRPL45 0 genome.wustl.edu 37 17 36453154 36453154 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 36453154 36453154 C T SNP MRPL45 ENST00000312513 human ensembl 74_37 +1 known missense c.5 p.A2V 0.948 NULL pfam_Tim44-like_dom,smart_Tim44-like_dom - no_errors MRPL45 HGNC ENSG00000174100 203 0 0 117 8 6.4 MRPL45P2 0 genome.wustl.edu 37 17 45569821 45569821 + RNA SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 45569821 45569821 G A SNP MRPL45P2 ENST00000425159 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors MRPL45P2 HGNC ENSG00000228782 169 0 0 48 24 33.3333 OR4D2 0 genome.wustl.edu 37 17 56247869 56247869 + Missense_Mutation SNP A A T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 56247869 56247869 A T SNP OR4D2 ENST00000545221 human ensembl 74_37 +1 known missense c.853 p.M285L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D2 HGNC ENSG00000255713 192 0 0 115 11 8.73016 DNAH17 0 genome.wustl.edu 37 17 76558007 76558007 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 76558007 76558007 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.1625 p.A542V 0.990 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 69 0 0 26 18 40.9091 CXADRP3 0 genome.wustl.edu 37 18 14478675 14478675 + RNA SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 18 14478675 14478675 A G SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 0.488 - - - no_errors CXADRP3 HGNC ENSG00000265766 32 0 0 3 13 81.25 DTNA 0 genome.wustl.edu 37 18 32455316 32455316 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 18 32455316 32455316 C T SNP DTNA ENST00000269190 human ensembl 74_37 +1 known silent c.1779 p.D593 1.000 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC ENSG00000134769 99 0 0 20 32 61.5385 SETBP1 0 genome.wustl.edu 37 18 42529959 42529959 + Missense_Mutation SNP C C A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 18 42529959 42529959 C A SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.654 p.N218K 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 91 0 0 24 32 57.1429 PHLPP1 0 genome.wustl.edu 37 18 60587215 60587215 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 18 60587215 60587215 G A SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known missense c.2828 p.R943Q 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 20 0 0 9 3 25 ZSWIM4 0 genome.wustl.edu 37 19 13910552 13910552 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 13910552 13910552 C T SNP ZSWIM4 ENST00000254323 human ensembl 74_37 +1 known missense c.172 p.R58W 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 230 0 0 85 35 29.1667 RPS15 0 genome.wustl.edu 37 19 1440417 1440417 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 1440417 1440417 G A SNP RPS15 ENST00000586686 human ensembl 74_37 +1 known missense c.394 p.G132S 1.000 pirsf_Ribosomal_S19,tigrfam_Ribosomal_S19A/S15e pfam_Ribosomal_S19,superfamily_Ribosomal_S19_SF,pirsf_Ribosomal_S19,prints_Ribosomal_S19,tigrfam_Ribosomal_S19A/S15e - no_errors RPS15 HGNC ENSG00000115268 150 1 0.662252 55 20 26.6667 CYP4F8 0 genome.wustl.edu 37 19 15739204 15739204 + RNA SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 15739204 15739204 C T SNP CYP4F8 ENST00000325723 human ensembl 74_37 +1 known rna NULL NULL 0.980 - - - no_errors CYP4F8 HGNC ENSG00000186526 184 0 0 84 9 9.67742 SLC35E1 0 genome.wustl.edu 37 19 16682353 16682353 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 16682353 16682353 C T SNP SLC35E1 ENST00000595753 human ensembl 74_37 -1 known silent c.462 p.R154 0.996 pfam_DMT,pfam_UAA pfam_Tpt_PEP_trans_dom,pfam_DMT,pfam_UAA - no_errors SLC35E1 HGNC ENSG00000127526 174 0 0 111 6 5.12821 HAPLN4 0 genome.wustl.edu 37 19 19369440 19369440 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 19369440 19369440 C T SNP HAPLN4 ENST00000291481 human ensembl 74_37 -1 known missense c.709 p.G237R 0.372 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN4 HGNC ENSG00000187664 75 0 0 30 14 31.8182 ZNF429 0 genome.wustl.edu 37 19 21720843 21720843 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 21720843 21720843 G A SNP ZNF429 ENST00000358491 human ensembl 74_37 +1 novel missense c.1988 p.R663Q 0.000 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 ZNF429 HGNC ENSG00000197013 48 0 0 11 8 42.1053 ENSG00000267360 0 genome.wustl.edu 37 19 37660827 37660827 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 37660827 37660827 T C SNP ENSG00000267360 ENST00000585860 human ensembl 74_37 -1 known missense c.422 p.E141G 0.001 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors CTC-454I21.3 Clone_based_vega_gene ENSG00000267360 23 0 0 16 3 15.7895 LRFN1 0 genome.wustl.edu 37 19 39805592 39805592 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 39805592 39805592 G A SNP LRFN1 ENST00000248668 human ensembl 74_37 -1 known missense c.385 p.R129C 0.430 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN1 HGNC ENSG00000128011 35 0 0 20 4 16.6667 PPP1R13L 0 genome.wustl.edu 37 19 45895561 45895561 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 45895561 45895561 C T SNP PPP1R13L ENST00000360957 human ensembl 74_37 -1 known silent c.1392 p.P464 0.036 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC ENSG00000104881 79 0 0 42 5 10.6383 NOVA2 0 genome.wustl.edu 37 19 46443436 46443436 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 46443436 46443436 G A SNP NOVA2 ENST00000263257 human ensembl 74_37 -1 known silent c.1164 p.A388 0.029 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA2 HGNC ENSG00000104967 91 0 0 59 4 6.34921 ZNF611 0 genome.wustl.edu 37 19 53208740 53208740 + Nonsense_Mutation SNP G G C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 53208740 53208740 G C SNP ZNF611 ENST00000319783 human ensembl 74_37 -1 known nonsense c.1568 p.S523* 0.002 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 ZNF611 HGNC ENSG00000213020 209 0 0 158 10 5.95238 ZNF611 0 genome.wustl.edu 37 19 53209177 53209177 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 53209177 53209177 T G SNP ZNF611 ENST00000319783 human ensembl 74_37 -1 known missense c.1131 p.K377N 0.026 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 ZNF611 HGNC ENSG00000213020 105 0 0 38 22 36.6667 ZNF816 0 genome.wustl.edu 37 19 53453937 53453937 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 53453937 53453937 G A SNP ZNF816 ENST00000357666 human ensembl 74_37 -1 known missense c.1091 p.T364I 0.996 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 ZNF816 HGNC ENSG00000180257 263 0 0 100 56 35.8974 ZNF765 0 genome.wustl.edu 37 19 53911869 53911869 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 53911869 53911869 C T SNP ZNF765 ENST00000396408 human ensembl 74_37 +1 known missense c.1061 p.P354L 0.990 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 ZNF765 HGNC ENSG00000196417 199 0 0 85 43 33.5938 PEG3 0 genome.wustl.edu 37 19 57328029 57328029 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 57328029 57328029 C T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.1781 p.R594H 0.015 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 73 0 0 30 18 37.5 ZNF586 0 genome.wustl.edu 37 19 58288010 58288010 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 58288010 58288010 G A SNP ZNF586 ENST00000396154 human ensembl 74_37 +1 known missense c.136 p.E46K 0.995 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 ZNF586 HGNC ENSG00000083828 374 0 0 176 44 20 PTBP1 0 genome.wustl.edu 37 19 804617 804617 + Missense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 804617 804617 G T SNP PTBP1 ENST00000356948 human ensembl 74_37 +1 known missense c.521 p.G174V 0.977 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 199 0 0 128 10 7.24638 MUC16 0 genome.wustl.edu 37 19 9065516 9065516 + Missense_Mutation SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 9065516 9065516 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.21930 p.I7310M 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 67 0 0 25 15 37.5 MUC16 0 genome.wustl.edu 37 19 9071599 9071599 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 9071599 9071599 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.15847 p.T5283A 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 123 0 0 75 6 7.40741 TMEM182 0 genome.wustl.edu 37 2 103414389 103414389 + Missense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 103414389 103414389 G T SNP TMEM182 ENST00000412401 human ensembl 74_37 +1 known missense c.399 p.L133F 1.000 NULL NULL - no_errors TMEM182 HGNC ENSG00000170417 124 0 0 98 12 10.9091 TRIB2 0 genome.wustl.edu 37 2 12863597 12863597 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 12863597 12863597 C T SNP TRIB2 ENST00000155926 human ensembl 74_37 +1 known missense c.482 p.S161L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TRIB2 HGNC ENSG00000071575 133 0 0 57 58 50.4348 THSD7B 0 genome.wustl.edu 37 2 138169183 138169183 + Silent SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 138169183 138169183 A G SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known silent c.2700 p.K900 0.991 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 106 0 0 73 21 22.3404 ZEB2 0 genome.wustl.edu 37 2 145157532 145157532 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 145157532 145157532 C T SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.1222 p.G408R 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 104 0 0 76 6 7.31707 NEB 0 genome.wustl.edu 37 2 152490448 152490448 + Missense_Mutation SNP A A T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 152490448 152490448 A T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.9134 p.L3045H 0.874 pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 186 0 0 151 47 23.7374 PXDN 0 genome.wustl.edu 37 2 1670114 1670114 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 1670114 1670114 C T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.1163 p.R388Q 0.992 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 67 0 0 47 19 28.7879 TTN 0 genome.wustl.edu 37 2 179432014 179432014 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 179432014 179432014 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.71141 p.K23714T 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 258 0 0 112 112 50 TTN 0 genome.wustl.edu 37 2 179441341 179441341 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 179441341 179441341 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.61926 p.Y20642 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 290 0 0 178 48 21.2389 TTN 0 genome.wustl.edu 37 2 179579117 179579117 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 179579117 179579117 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.22652 p.Q7551P 0.964 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 75 0 0 83 5 5.68182 TTN 0 genome.wustl.edu 37 2 179616598 179616598 + Missense_Mutation SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 179616598 179616598 A C SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.10529 p.L3510R 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 137 0 0 79 70 46.9799 TTN 0 genome.wustl.edu 37 2 179646951 179646951 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 179646951 179646951 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.3368 p.T1123I 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 95 0 0 91 5 5.20833 SDPR 0 genome.wustl.edu 37 2 192701336 192701336 + Silent SNP C C A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 192701336 192701336 C A SNP SDPR ENST00000304141 human ensembl 74_37 -1 known silent c.591 p.L197 1.000 NULL NULL - no_errors SDPR HGNC ENSG00000168497 79 0 0 74 16 17.7778 DNAH7 0 genome.wustl.edu 37 2 196837104 196837104 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 196837104 196837104 G A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known silent c.1920 p.I640 0.987 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 111 0 0 89 21 19.0909 ZDBF2 0 genome.wustl.edu 37 2 207170309 207170309 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 207170309 207170309 T G SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.1057 p.F353V 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 67 0 0 23 33 58.9286 ENSG00000235118 0 genome.wustl.edu 37 2 207509066 207509066 + RNA SNP C C A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 207509066 207509066 C A SNP ENSG00000235118 ENST00000441223 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC010731.4 Clone_based_vega_gene ENSG00000235118 25 0 0 30 4 11.7647 ABCA12 0 genome.wustl.edu 37 2 215818797 215818797 + Missense_Mutation SNP A A T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 215818797 215818797 A T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.6428 p.I2143N 0.994 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 109 0 0 85 30 26.087 COL6A3 0 genome.wustl.edu 37 2 238245167 238245167 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 238245167 238245167 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.8576 p.P2859L 0.230 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 141 0 0 81 22 21.3592 GAL3ST2 0 genome.wustl.edu 37 2 242741298 242741298 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 242741298 242741298 C T SNP GAL3ST2 ENST00000192314 human ensembl 74_37 +1 known silent c.222 p.F74 0.180 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST2 HGNC ENSG00000154252 164 0 0 85 24 22.0183 PLEK 0 genome.wustl.edu 37 2 68620325 68620325 + Missense_Mutation SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 68620325 68620325 A G SNP PLEK ENST00000234313 human ensembl 74_37 +1 known missense c.794 p.K265R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology - no_errors PLEK HGNC ENSG00000115956 198 0 0 97 93 48.9474 RAB11FIP5 0 genome.wustl.edu 37 2 73339491 73339491 + Missense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 73339491 73339491 G T SNP RAB11FIP5 ENST00000258098 human ensembl 74_37 -1 known missense c.415 p.R139S 0.928 superfamily_C2_dom,smart_C2_dom pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP5 HGNC ENSG00000135631 52 0 0 37 3 7.5 MBOAT2 0 genome.wustl.edu 37 2 9002810 9002810 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 9002810 9002810 C T SNP MBOAT2 ENST00000305997 human ensembl 74_37 -1 known silent c.1095 p.T365 0.065 pfam_MBOAT_fam pfam_MBOAT_fam,superfamily_MFS_dom_general_subst_transpt - no_errors MBOAT2 HGNC ENSG00000143797 66 0 0 46 13 22.0339 GGTLC1 0 genome.wustl.edu 37 20 23966745 23966745 + Missense_Mutation SNP A A T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 20 23966745 23966745 A T SNP GGTLC1 ENST00000278765 human ensembl 74_37 -1 known missense c.272 p.V91E 0.999 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC1 HGNC ENSG00000149435 240 0 0 151 145 48.9865 TMEM239 0 genome.wustl.edu 37 20 2795930 2795930 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 20 2795930 2795930 C T SNP TMEM239 ENST00000554164 human ensembl 74_37 +1 known missense c.100 p.R34C 0.000 NULL NULL - no_errors TMEM239 HGNC ENSG00000198326 295 0 0 265 39 12.8289 SIGLEC1 0 genome.wustl.edu 37 20 3686514 3686514 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 20 3686514 3686514 C T SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.583 p.G195S 0.060 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 196 0 0 219 31 12.4 RALGAPB 0 genome.wustl.edu 37 20 37144919 37144919 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 20 37144919 37144919 G A SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known silent c.957 p.P319 0.736 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 152 0 0 206 35 14.5228 CDC25B 0 genome.wustl.edu 37 20 3782936 3782936 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 20 3782936 3782936 C T SNP CDC25B ENST00000245960 human ensembl 74_37 +1 known silent c.1107 p.R369 0.003 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25B HGNC ENSG00000101224 72 0 0 63 12 16 TSHZ2 0 genome.wustl.edu 37 20 51870861 51870861 + Missense_Mutation SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 20 51870861 51870861 A C SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.864 p.Q288H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 108 0 0 75 29 27.8846 RAE1 0 genome.wustl.edu 37 20 55942076 55942076 + Nonsense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 20 55942076 55942076 C T SNP RAE1 ENST00000371242 human ensembl 74_37 +1 known nonsense c.475 p.R159* 0.999 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RAE1 HGNC ENSG00000101146 114 0 0 149 20 11.8343 GNAS 0 genome.wustl.edu 37 20 57415691 57415691 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 20 57415691 57415691 G A SNP GNAS ENST00000313949 human ensembl 74_37 +1 known missense c.530 p.R177H 0.005 pfam_NESP55 pfam_NESP55 - no_errors GNAS HGNC ENSG00000087460 52 0 0 66 16 19.5122 SLC17A9 0 genome.wustl.edu 37 20 61594000 61594000 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 20 61594000 61594000 C T SNP SLC17A9 ENST00000370351 human ensembl 74_37 +1 known silent c.522 p.G174 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A9 HGNC ENSG00000101194 224 0 0 211 79 27.2414 RBM11 0 genome.wustl.edu 37 21 15599581 15599581 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 21 15599581 15599581 G A SNP RBM11 ENST00000400577 human ensembl 74_37 +1 known silent c.813 p.K271 0.955 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM11 HGNC ENSG00000185272 116 0 0 57 15 20.8333 SAMSN1 0 genome.wustl.edu 37 21 15882692 15882692 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 21 15882692 15882692 C T SNP SAMSN1 ENST00000400566 human ensembl 74_37 -1 known missense c.500 p.R167H 0.999 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SAMSN1 HGNC ENSG00000155307 103 0 0 60 21 25.9259 TMPRSS15 0 genome.wustl.edu 37 21 19725236 19725236 + Silent SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 21 19725236 19725236 A C SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known silent c.1155 p.T385 0.999 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 158 0 0 40 61 60.396 MCM3AP 0 genome.wustl.edu 37 21 47662778 47662778 + Silent SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 21 47662778 47662778 A G SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known silent c.5364 p.V1788 0.757 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 120 0 0 51 33 39.2857 PI4KA 0 genome.wustl.edu 37 22 21084264 21084264 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 22 21084264 21084264 C T SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.4324 p.V1442I 0.987 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 63 0 0 32 16 33.3333 MICALL1 0 genome.wustl.edu 37 22 38323469 38323469 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 22 38323469 38323469 C T SNP MICALL1 ENST00000215957 human ensembl 74_37 +1 known missense c.1517 p.S506L 0.999 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL1 HGNC ENSG00000100139 57 0 0 17 12 41.3793 C22orf23 0 genome.wustl.edu 37 22 38349054 38349054 + Missense_Mutation SNP C C A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 22 38349054 38349054 C A SNP C22orf23 ENST00000249079 human ensembl 74_37 -1 known missense c.103 p.V35L 1.000 pfam_UPF0193 pfam_UPF0193 - no_errors C22orf23 HGNC ENSG00000128346 258 0 0 173 10 5.46448 PNPLA5 0 genome.wustl.edu 37 22 44280192 44280192 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 22 44280192 44280192 C T SNP PNPLA5 ENST00000216177 human ensembl 74_37 -1 known missense c.983 p.R328Q 0.001 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA5 HGNC ENSG00000100341 181 0 0 94 29 23.5772 TUBGCP6 0 genome.wustl.edu 37 22 50659081 50659081 + Missense_Mutation SNP C C G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 22 50659081 50659081 C G SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.3707 p.R1236P 0.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 109 0 0 44 4 8.33333 MIOX 0 genome.wustl.edu 37 22 50927667 50927667 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 22 50927667 50927667 G A SNP MIOX ENST00000216075 human ensembl 74_37 +1 known missense c.529 p.G177R 0.999 pfam_Inositol_oxygenase pfam_Inositol_oxygenase - no_errors MIOX HGNC ENSG00000100253 28 0 0 19 4 17.3913 RETNLB 0 genome.wustl.edu 37 3 108475996 108475996 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 108475996 108475996 G A SNP RETNLB ENST00000295755 human ensembl 74_37 -1 known missense c.37 p.P13S 0.770 pfam_Resistin pfam_Resistin,superfamily_Resistin - no_errors RETNLB HGNC ENSG00000163515 74 0 0 38 16 29.6296 STXBP5L 0 genome.wustl.edu 37 3 120941908 120941908 + Missense_Mutation SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 120941908 120941908 A C SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.1015 p.S339R 1.000 pfam_LLGL2,superfamily_WD40_repeat_dom,prints_Lethal2_giant pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 87 0 0 42 37 46.8354 MYLK 0 genome.wustl.edu 37 3 123359315 123359315 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 123359315 123359315 G A SNP MYLK ENST00000360304 human ensembl 74_37 -1 known silent c.4656 p.D1552 0.962 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 187 1 0.531915 116 30 20.5479 ALDH1L1 0 genome.wustl.edu 37 3 125850284 125850284 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 125850284 125850284 G A SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known silent c.1566 p.H522 0.720 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 243 0 0 204 14 6.42202 NUP210 0 genome.wustl.edu 37 3 13368918 13368918 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 13368918 13368918 C T SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.4306 p.G1436R 0.058 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 42 0 0 12 10 45.4545 GPR149 0 genome.wustl.edu 37 3 154055666 154055666 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 154055666 154055666 G A SNP GPR149 ENST00000389740 human ensembl 74_37 -1 known missense c.2018 p.S673F 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 230 0 0 176 55 23.8095 NDUFB5 0 genome.wustl.edu 37 3 179322615 179322615 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 179322615 179322615 G A SNP NDUFB5 ENST00000259037 human ensembl 74_37 +1 known missense c.12 p.M4I 1.000 pfam_NADH_UbQ_OxRdtase_B5_su pfam_NADH_UbQ_OxRdtase_B5_su - no_errors NDUFB5 HGNC ENSG00000136521 88 0 0 65 26 28.5714 ABCC5 0 genome.wustl.edu 37 3 183681355 183681355 + Missense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 183681355 183681355 G T SNP ABCC5 ENST00000334444 human ensembl 74_37 -1 known missense c.2053 p.L685M 1.000 pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 86 0 0 76 22 22.449 TOP2B 0 genome.wustl.edu 37 3 25670621 25670621 + Missense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 25670621 25670621 G T SNP TOP2B ENST00000264331 human ensembl 74_37 -1 known missense c.1705 p.H569N 1.000 superfamily_Topo_IIA_like_dom,smart_Topo_IIA,prints_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 121 0 0 61 21 25.6098 IL5RA 0 genome.wustl.edu 37 3 3146638 3146638 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 3146638 3146638 G A SNP IL5RA ENST00000256452 human ensembl 74_37 -1 known missense c.31 p.L11F 0.018 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL5RA HGNC ENSG00000091181 83 0 0 42 3 6.66667 ITGA9 0 genome.wustl.edu 37 3 37512575 37512575 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 37512575 37512575 G A SNP ITGA9 ENST00000264741 human ensembl 74_37 +1 known missense c.263 p.R88H 0.993 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 138 0 0 69 32 31.6832 ZDHHC3 0 genome.wustl.edu 37 3 44968199 44968199 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 44968199 44968199 C T SNP ZDHHC3 ENST00000296127 human ensembl 74_37 -1 known silent c.966 p.P322 0.998 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC3 HGNC ENSG00000163812 36 0 0 26 8 23.5294 FYCO1 0 genome.wustl.edu 37 3 46009351 46009351 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 46009351 46009351 C T SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known missense c.1475 p.R492Q 0.000 superfamily_Prefoldin 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 249 1 0.4 160 11 6.43275 NBEAL2 0 genome.wustl.edu 37 3 47043985 47043985 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 47043985 47043985 G A SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.5276 p.R1759H 0.708 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 82 0 0 34 13 27.6596 CNTN3 0 genome.wustl.edu 37 3 74334556 74334556 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 74334556 74334556 G A SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known silent c.2604 p.G868 0.717 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 204 0 0 143 11 7.14286 HTR1F 0 genome.wustl.edu 37 3 88039930 88039930 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 88039930 88039930 T G SNP HTR1F ENST00000319595 human ensembl 74_37 +1 known missense c.31 p.L11V 1.000 prints_5HT1F_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors HTR1F HGNC ENSG00000179097 148 0 0 89 15 14.4231 OR5H15 0 genome.wustl.edu 37 3 97888236 97888236 + Missense_Mutation SNP T T A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 97888236 97888236 T A SNP OR5H15 ENST00000356526 human ensembl 74_37 +1 known missense c.693 p.D231E 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H15 HGNC ENSG00000233412 53 0 0 51 4 7.27273 OR5K4 0 genome.wustl.edu 37 3 98073198 98073198 + Silent SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 98073198 98073198 T G SNP OR5K4 ENST00000354924 human ensembl 74_37 +1 known silent c.501 p.T167 0.143 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K4 HGNC ENSG00000196098 88 0 0 67 17 20.2381 EMCN 0 genome.wustl.edu 37 4 101331501 101331501 + Missense_Mutation SNP C C A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 4 101331501 101331501 C A SNP EMCN ENST00000296420 human ensembl 74_37 -1 known missense c.763 p.A255S 1.000 pfam_Endomucin pfam_Endomucin - no_errors EMCN HGNC ENSG00000164035 71 0 0 43 26 37.6812 SYNPO2 0 genome.wustl.edu 37 4 119947975 119947975 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 4 119947975 119947975 G A SNP SYNPO2 ENST00000307142 human ensembl 74_37 +1 known missense c.451 p.D151N 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 79 0 0 24 15 38.4615 POU4F2 0 genome.wustl.edu 37 4 147561615 147561615 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 4 147561615 147561615 C T SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known silent c.885 p.S295 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 104 0 0 56 4 6.66667 ENSG00000253917 0 genome.wustl.edu 37 4 3952870 3952870 + RNA SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 4 3952870 3952870 T G SNP ENSG00000253917 ENST00000281228 human ensembl 74_37 -1 known rna NULL NULL 0.988 - - - no_errors AC226119.5 Clone_based_vega_gene ENSG00000253917 90 0 0 30 8 21.0526 GNRHR 0 genome.wustl.edu 37 4 68610326 68610326 + Missense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 4 68610326 68610326 G T SNP GNRHR ENST00000420975 human ensembl 74_37 -1 known missense c.574 p.H192N 1.000 pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GphnRH_fam_rcpt,prints_GPCR_Rhodpsn - no_errors GNRHR HGNC ENSG00000109163 110 0 0 40 16 28.5714 GFRA3 0 genome.wustl.edu 37 5 137593479 137593479 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 137593479 137593479 C T SNP GFRA3 ENST00000274721 human ensembl 74_37 -1 known missense c.634 p.A212T 0.004 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt_A3 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 110 0 0 73 7 8.75 KDM3B 0 genome.wustl.edu 37 5 137735660 137735660 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 137735660 137735660 G A SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known missense c.3158 p.C1053Y 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 131 0 0 57 36 38.7097 DNAH5 0 genome.wustl.edu 37 5 13786338 13786338 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 13786338 13786338 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.8770 p.A2924T 0.001 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 50 0 0 26 8 23.5294 PCDHAC2 0 genome.wustl.edu 37 5 140346635 140346635 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 140346635 140346635 C T SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known missense c.284 p.T95M 0.015 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 78 0 0 29 11 27.5 PCDHGA1 0 genome.wustl.edu 37 5 140712192 140712192 + Missense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 140712192 140712192 G T SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known missense c.1941 p.Q647H 0.994 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 125 0 0 62 19 23.4568 PCDHGA1 0 genome.wustl.edu 37 5 140712478 140712478 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 140712478 140712478 G A SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known missense c.2227 p.V743M 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 188 0 0 99 45 31.25 SYNPO 0 genome.wustl.edu 37 5 150029807 150029807 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 150029807 150029807 G A SNP SYNPO ENST00000394243 human ensembl 74_37 +1 known missense c.2702 p.R901Q 1.000 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 176 0 0 67 36 34.9515 FAT2 0 genome.wustl.edu 37 5 150948306 150948306 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 150948306 150948306 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.187 p.A63T 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 252 0 0 122 50 29.0698 ATP10B 0 genome.wustl.edu 37 5 160047743 160047743 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 160047743 160047743 T C SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.2027 p.D676G 0.002 superfamily_HAD-like_dom pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 72 0 0 43 23 34.8485 MAT2B 0 genome.wustl.edu 37 5 162943688 162943688 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 162943688 162943688 T C SNP MAT2B ENST00000321757 human ensembl 74_37 +1 known missense c.691 p.C231R 1.000 pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_Polysac_CapD-like,pfam_3Beta_OHSteriod_DH/Estase - no_errors MAT2B HGNC ENSG00000038274 63 0 0 29 11 27.5 HCN1 0 genome.wustl.edu 37 5 45645460 45645460 + Missense_Mutation SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 45645460 45645460 A C SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.676 p.F226V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 47 0 0 25 11 30.5556 ITGA2 0 genome.wustl.edu 37 5 52366069 52366069 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 52366069 52366069 C T SNP ITGA2 ENST00000296585 human ensembl 74_37 +1 known silent c.2214 p.P738 0.196 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 97 0 0 48 22 31.4286 NR2F1 0 genome.wustl.edu 37 5 92923850 92923850 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 92923850 92923850 G A SNP NR2F1 ENST00000327111 human ensembl 74_37 +1 known missense c.691 p.V231I 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_COUP_TF,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F1 HGNC ENSG00000175745 141 0 0 54 28 34.1463 CHD1 0 genome.wustl.edu 37 5 98207890 98207890 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 5 98207890 98207890 G A SNP CHD1 ENST00000284049 human ensembl 74_37 -1 known silent c.3726 p.C1242 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 79 0 0 36 3 7.69231 TFAP2A 0 genome.wustl.edu 37 6 10398872 10398872 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 6 10398872 10398872 G A SNP TFAP2A ENST00000466073 human ensembl 74_37 -1 putative missense c.950 p.P317L 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC ENSG00000137203 426 0 0 340 19 5.29248 VIP 0 genome.wustl.edu 37 6 153077304 153077304 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 6 153077304 153077304 G A SNP VIP ENST00000367244 human ensembl 74_37 +1 known missense c.371 p.R124H 1.000 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors VIP HGNC ENSG00000146469 111 0 0 27 64 70.3297 TRIM27 0 genome.wustl.edu 37 6 28887843 28887843 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 6 28887843 28887843 G A SNP TRIM27 ENST00000377199 human ensembl 74_37 -1 known silent c.693 p.S231 0.949 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM27 HGNC ENSG00000204713 212 0 0 150 10 6.25 TRIM31 0 genome.wustl.edu 37 6 30079499 30079499 + Nonsense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 6 30079499 30079499 G A SNP TRIM31 ENST00000376734 human ensembl 74_37 -1 known nonsense c.439 p.Q147* 0.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,prints_Znf_B-box_chordata,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM31 HGNC ENSG00000204616 206 0 0 133 42 24 PRRC2A 0 genome.wustl.edu 37 6 31599480 31599480 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 6 31599480 31599480 G A SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known silent c.3030 p.R1010 0.781 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 44 0 0 32 11 25.5814 SLC44A4 0 genome.wustl.edu 37 6 31833521 31833521 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 6 31833521 31833521 T C SNP SLC44A4 ENST00000229729 human ensembl 74_37 -1 known missense c.1528 p.T510A 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 250 0 0 145 28 16.185 LRRC73 0 genome.wustl.edu 37 6 43475390 43475390 + Nonsense_Mutation SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 6 43475390 43475390 G T SNP LRRC73 ENST00000372441 human ensembl 74_37 -1 novel nonsense c.684 p.Y228* 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC73 HGNC ENSG00000204052 79 0 0 43 3 6.52174 ICK 0 genome.wustl.edu 37 6 52905967 52905967 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 6 52905967 52905967 C T SNP ICK ENST00000350082 human ensembl 74_37 -1 known missense c.68 p.S23N 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ICK HGNC ENSG00000112144 203 1 0.490196 132 46 25.8427 RIMS1 0 genome.wustl.edu 37 6 72678732 72678732 + Silent SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 6 72678732 72678732 A C SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known silent c.211 p.R71 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 122 0 0 99 6 5.71429 GJA10 0 genome.wustl.edu 37 6 90604825 90604825 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 6 90604825 90604825 T C SNP GJA10 ENST00000369352 human ensembl 74_37 +1 known missense c.638 p.L213P 0.993 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA10 HGNC ENSG00000135355 259 0 0 50 106 67.9487 CFTR 0 genome.wustl.edu 37 7 117170954 117170954 + Missense_Mutation SNP A A T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 7 117170954 117170954 A T SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.275 p.E92V 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 30 0 0 19 5 20.8333 KCND2 0 genome.wustl.edu 37 7 120387737 120387737 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 7 120387737 120387737 G A SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.1718 p.R573Q 1.000 prints_K_chnl_volt-dep_Kv4.2 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 56 0 0 51 9 15 PLXNA4 0 genome.wustl.edu 37 7 131913116 131913116 + Missense_Mutation SNP A A T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 7 131913116 131913116 A T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.1717 p.Y573N 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 72 0 0 59 5 7.8125 GLI3 0 genome.wustl.edu 37 7 42005935 42005935 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 7 42005935 42005935 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.2736 p.S912 0.003 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 89 0 0 49 22 30.9859 FOXK1 0 genome.wustl.edu 37 7 4722396 4722396 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 7 4722396 4722396 T G SNP FOXK1 ENST00000328914 human ensembl 74_37 +1 known missense c.457 p.F153V 0.998 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK1 HGNC ENSG00000164916 34 0 0 29 7 19.4444 GTF2IRD1 0 genome.wustl.edu 37 7 73927297 73927297 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 7 73927297 73927297 C T SNP GTF2IRD1 ENST00000265755 human ensembl 74_37 +1 known silent c.261 p.F87 1.000 pirsf_TF_II-I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 88 0 0 84 5 5.61798 SGCE 0 genome.wustl.edu 37 7 94229960 94229960 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 7 94229960 94229960 G A SNP SGCE ENST00000445866 human ensembl 74_37 -1 known silent c.1035 p.G345 0.998 pfam_Sarcoglycan_2 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCE HGNC ENSG00000127990 25 0 0 30 4 11.7647 PON1 0 genome.wustl.edu 37 7 95023980 95023980 + Missense_Mutation SNP T T A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 7 95023980 95023980 T A SNP PON1 ENST00000542556 human ensembl 74_37 -1 known missense c.121 p.N41Y 0.049 NULL pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2,prints_Paraoxonase1 - no_errors PON1 HGNC ENSG00000005421 57 0 0 36 12 25 KLHL38 0 genome.wustl.edu 37 8 124663889 124663889 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 124663889 124663889 G A SNP KLHL38 ENST00000325995 human ensembl 74_37 -1 known silent c.1278 p.V426 0.044 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC ENSG00000175946 149 0 0 129 26 16.7742 FAM135B 0 genome.wustl.edu 37 8 139165293 139165293 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 139165293 139165293 T G SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.1425 p.E475D 0.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 80 0 0 41 48 53.9326 TRAPPC9 0 genome.wustl.edu 37 8 141461087 141461087 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 141461087 141461087 C T SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known missense c.680 p.R227H 1.000 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 80 0 0 35 48 57.8313 SPATC1 0 genome.wustl.edu 37 8 145095740 145095740 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 145095740 145095740 C T SNP SPATC1 ENST00000377470 human ensembl 74_37 +1 known silent c.1038 p.A346 0.000 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 37 0 0 20 7 25.9259 MYOM2 0 genome.wustl.edu 37 8 2024315 2024315 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 2024315 2024315 G A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.1215 p.P405 0.015 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 31 0 0 21 9 30 MYOM2 0 genome.wustl.edu 37 8 2088785 2088785 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 2088785 2088785 C T SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.3940 p.R1314C 0.169 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 93 0 0 48 17 26.1538 DPYSL2 0 genome.wustl.edu 37 8 26481667 26481667 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 26481667 26481667 G A SNP DPYSL2 ENST00000311151 human ensembl 74_37 +1 known missense c.322 p.V108I 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL2 HGNC ENSG00000092964 67 0 0 38 30 44.1176 ADRA1A 0 genome.wustl.edu 37 8 26627968 26627968 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 26627968 26627968 C T SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known missense c.1099 p.V367M 0.000 prints_ADRA1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 298 1 0.334448 186 47 20.1717 SCARA5 0 genome.wustl.edu 37 8 27779562 27779562 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 27779562 27779562 G A SNP SCARA5 ENST00000354914 human ensembl 74_37 -1 known missense c.442 p.R148W 0.898 NULL pfam_SRCR,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors SCARA5 HGNC ENSG00000168079 25 0 0 11 3 21.4286 NRG1 0 genome.wustl.edu 37 8 32617751 32617751 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 32617751 32617751 C T SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known silent c.1119 p.S373 0.048 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 159 0 0 91 34 27.2 PREX2 0 genome.wustl.edu 37 8 69012017 69012017 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 69012017 69012017 T G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.2654 p.F885C 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 152 0 0 89 23 20.5357 TRPA1 0 genome.wustl.edu 37 8 72973967 72973967 + Silent SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 72973967 72973967 A G SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known silent c.837 p.A279 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 71 0 0 60 15 20 ZFHX4 0 genome.wustl.edu 37 8 77776432 77776432 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 8 77776432 77776432 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.10482 p.V3494 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 78 0 0 41 43 51.1905 TEX10 0 genome.wustl.edu 37 9 103092225 103092225 + Nonsense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 103092225 103092225 G A SNP TEX10 ENST00000374902 human ensembl 74_37 -1 known nonsense c.1477 p.Q493* 1.000 superfamily_ARM-type_fold pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 228 0 0 106 75 41.4365 KLF4 0 genome.wustl.edu 37 9 110250158 110250158 + Missense_Mutation SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 110250158 110250158 A G SNP KLF4 ENST00000374672 human ensembl 74_37 -1 known missense c.517 p.Y173H 0.100 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF4 HGNC ENSG00000136826 13 0 0 6 5 45.4545 TNFSF8 0 genome.wustl.edu 37 9 117666471 117666471 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 117666471 117666471 C T SNP TNFSF8 ENST00000223795 human ensembl 74_37 -1 known missense c.445 p.V149I 0.133 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_CD30_ligand_type,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_CD30_ligand_type,pfscan_TNF_dom - no_errors TNFSF8 HGNC ENSG00000106952 172 0 0 75 39 34.2105 PHF19 0 genome.wustl.edu 37 9 123624890 123624890 + Splice_Site SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 123624890 123624890 C T SNP PHF19 ENST00000467266 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.972 - - - no_errors PHF19 HGNC ENSG00000119403 204 0 0 145 8 5.22876 OLFML2A 0 genome.wustl.edu 37 9 127572575 127572575 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 127572575 127572575 C T SNP OLFML2A ENST00000373580 human ensembl 74_37 +1 known missense c.1843 p.P615S 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 131 0 0 69 5 6.75676 ENG 0 genome.wustl.edu 37 9 130586619 130586619 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 130586619 130586619 G A SNP ENG ENST00000373203 human ensembl 74_37 -1 known silent c.1098 p.D366 0.000 pfam_ZP_dom pfam_ZP_dom - no_errors ENG HGNC ENSG00000106991 108 0 0 70 5 6.66667 NUP188 0 genome.wustl.edu 37 9 131745578 131745578 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 131745578 131745578 G A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known silent c.1803 p.T601 0.011 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 163 0 0 99 8 7.47664 CCDC171 0 genome.wustl.edu 37 9 15623324 15623324 + Missense_Mutation SNP T T A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 15623324 15623324 T A SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.735 p.H245Q 0.961 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 166 0 0 86 21 19.6262 CCDC171 0 genome.wustl.edu 37 9 15971636 15971636 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 15971636 15971636 C T SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known silent c.3783 p.S1261 0.162 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 189 0 0 133 11 7.63889 KIAA1161 0 genome.wustl.edu 37 9 34372835 34372835 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 34372835 34372835 T C SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known missense c.5 p.Y2C 1.000 NULL pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 214 0 0 152 9 5.59006 AK3 0 genome.wustl.edu 37 9 4741004 4741004 + Silent SNP A A T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 4741004 4741004 A T SNP AK3 ENST00000381809 human ensembl 74_37 -1 known silent c.84 p.T28 0.569 pfam_Adenylate_kin,superfamily_P-loop_NTPase,tigrfam_Adenyl_kin_sub pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub - no_errors AK3 HGNC ENSG00000147853 16 0 0 20 3 13.0435 TRPM3 0 genome.wustl.edu 37 9 73167767 73167767 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 73167767 73167767 G A SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known silent c.3612 p.Y1204 0.159 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 401 1 0.248756 254 66 20.625 FOXB2 0 genome.wustl.edu 37 9 79635343 79635343 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 79635343 79635343 C T SNP FOXB2 ENST00000376708 human ensembl 74_37 +1 known missense c.773 p.A258V 0.010 prints_Antifreeze_1 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head,prints_Antifreeze_1 - no_errors FOXB2 HGNC ENSG00000204612 50 0 0 34 20 37.037 VPS13A 0 genome.wustl.edu 37 9 79954743 79954743 + Silent SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 9 79954743 79954743 C T SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known silent c.6690 p.D2230 1.000 pfam_VPSAP_dom pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 142 0 0 62 49 44.1441 RAB40A 0 genome.wustl.edu 37 X 102755664 102755664 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 102755664 102755664 G A SNP RAB40A ENST00000304236 human ensembl 74_37 -1 known silent c.21 p.P7 0.971 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,prints_Small_GTPase,pfscan_SOCS_C,tigrfam_Small_GTP-bd_dom - no_errors RAB40A HGNC ENSG00000172476 70 0 0 17 40 70.1754 NRK 0 genome.wustl.edu 37 X 105153078 105153078 + Missense_Mutation SNP A A G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 105153078 105153078 A G SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.1448 p.Q483R 0.892 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 34 0 0 10 14 58.3333 COL4A5 0 genome.wustl.edu 37 X 107868943 107868943 + Missense_Mutation SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 107868943 107868943 G A SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.3025 p.G1009S 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 19 0 0 8 10 55.5556 SPANXD 0 genome.wustl.edu 37 X 140785779 140785779 + Missense_Mutation SNP T T C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 140785779 140785779 T C SNP SPANXD ENST00000370515 human ensembl 74_37 -1 known missense c.137 p.E46G 0.001 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXD HGNC ENSG00000196406 250 0 0 202 11 5.16432 MAGEC1 0 genome.wustl.edu 37 X 140995998 140995998 + Silent SNP G G T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 140995998 140995998 G T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known silent c.2808 p.T936 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 162 0 0 30 84 73.6842 PDZD4 0 genome.wustl.edu 37 X 153069654 153069654 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 153069654 153069654 G A SNP PDZD4 ENST00000164640 human ensembl 74_37 -1 known silent c.1464 p.P488 0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 26 0 0 4 6 60 P2RY8 0 genome.wustl.edu 37 X 1584485 1584485 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 1584485 1584485 C T SNP P2RY8 ENST00000381297 human ensembl 74_37 -1 known missense c.967 p.E323K 0.246 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors P2RY8 HGNC ENSG00000182162 205 0 0 116 37 24.183 CXorf58 0 genome.wustl.edu 37 X 23953370 23953370 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 23953370 23953370 C T SNP CXorf58 ENST00000379211 human ensembl 74_37 +1 known missense c.613 p.R205C 1.000 NULL NULL - no_errors CXorf58 HGNC ENSG00000165182 139 0 0 84 8 8.69565 RBM10 0 genome.wustl.edu 37 X 47044603 47044603 + Silent SNP G G A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 47044603 47044603 G A SNP RBM10 ENST00000377604 human ensembl 74_37 +1 known silent c.2100 p.K700 1.000 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 43 0 0 8 20 71.4286 KDM5C 0 genome.wustl.edu 37 X 53227954 53227954 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 53227954 53227954 C T SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.2360 p.R787Q 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 82 0 0 60 4 6.25 NLGN4X 0 genome.wustl.edu 37 X 5811198 5811198 + Missense_Mutation SNP C C T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 5811198 5811198 C T SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.2171 p.R724H 0.997 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 61 0 0 25 4 13.7931 VCX3A 0 genome.wustl.edu 37 X 6451831 6451831 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 6451831 6451831 T G SNP VCX3A ENST00000381089 human ensembl 74_37 -1 known missense c.516 p.E172D 0.119 NULL NULL - no_errors VCX3A HGNC ENSG00000169059 349 0 0 204 61 23.0189 VCX 0 genome.wustl.edu 37 X 7812012 7812012 + Missense_Mutation SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 7812012 7812012 A C SNP VCX ENST00000381059 human ensembl 74_37 +1 known missense c.576 p.E192D 0.535 NULL NULL - no_errors VCX HGNC ENSG00000182583 128 0 0 87 7 7.44681 VCX3B 0 genome.wustl.edu 37 X 8434349 8434349 + Missense_Mutation SNP A A C TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 8434349 8434349 A C SNP VCX3B ENST00000444481 human ensembl 74_37 +1 known missense c.576 p.E192D 0.000 NULL NULL - no_errors VCX3B HGNC ENSG00000205642 168 0 0 77 26 25.2427 PABPC5 0 genome.wustl.edu 37 X 90691229 90691229 + Missense_Mutation SNP T T G TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a X 90691229 90691229 T G SNP PABPC5 ENST00000312600 human ensembl 74_37 +1 known missense c.653 p.L218R 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 55 0 0 9 18 66.6667 ATP5F1 0 genome.wustl.edu 37 1 111998823 111998824 + Frame_Shift_Ins INS - - A TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 111998823 111998824 - A INS ATP5F1 ENST00000369722 human ensembl 74_37 +1 known frame_shift_ins c.339_340 p.Y115fs 1.000:1.000 pfam_ATPase_B_chain/sub_B/MI25 pfam_ATPase_B_chain/sub_B/MI25 - no_errors ATP5F1 HGNC ENSG00000116459 126 0 0 61 29 32.2222 HMCN1 0 genome.wustl.edu 37 1 185833668 185833669 + Frame_Shift_Ins INS - - GTTCTTTC TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 185833668 185833669 - GTTCTTTC INS HMCN1 ENST00000271588 human ensembl 74_37 +1 known frame_shift_ins c.406_407 p.I139fs 1.000:1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 56 0 0 46 10 17.8571 MYOM3 0 genome.wustl.edu 37 1 24400670 24400671 + Frame_Shift_Ins INS - - T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 24400670 24400671 - T INS MYOM3 ENST00000330966 human ensembl 74_37 -1 known frame_shift_ins c.2951_2950 p.S984fs 1.000:0.997 smart_Ig_sub pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 174 0 0 86 7 7.52688 ZMYM4 0 genome.wustl.edu 37 1 35884071 35884075 + Frame_Shift_Del DEL GAAAT GAAAT - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 GAAAT GAAAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 1 35884071 35884075 GAAAT - DEL ZMYM4 ENST00000314607 human ensembl 74_37 +1 known frame_shift_del c.4337_4341 p.N1447fs 1.000:0.900:0.899:0.892:0.900 pfam_DUF3504 pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 109 0 0 39 17 30.3571 KIF7 0 genome.wustl.edu 37 15 90190140 90190140 + Frame_Shift_Del DEL C C - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 15 90190140 90190140 C - DEL KIF7 ENST00000394412 human ensembl 74_37 -1 known frame_shift_del c.1709 p.G570fs 0.559 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 127 0 0 87 8 8.42105 SULT1A1 0 genome.wustl.edu 37 16 28620108 28620120 + Frame_Shift_Del DEL GTACTTGATGAGC GTACTTGATGAGC - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 GTACTTGATGAGC GTACTTGATGAGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 16 28620108 28620120 GTACTTGATGAGC - DEL SULT1A1 ENST00000314752 human ensembl 74_37 -1 known frame_shift_del c.69_57 p.I21fs 0.997:0.921:0.871:0.861:0.860:0.846:0.831:0.816:0.176:0.148:0.201:0.198:0.191 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1A1 HGNC ENSG00000196502 229 0 0 180 14 7.21649 CDH8 0 genome.wustl.edu 37 16 61851491 61851491 + Frame_Shift_Del DEL A A - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 16 61851491 61851491 A - DEL CDH8 ENST00000577390 human ensembl 74_37 -1 known frame_shift_del c.1169 p.V390fs 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 87 0 0 49 14 22.2222 ZMYND15 0 genome.wustl.edu 37 17 4647504 4647507 + Frame_Shift_Del DEL AAAC AAAC - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 AAAC AAAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 4647504 4647507 AAAC - DEL ZMYND15 ENST00000433935 human ensembl 74_37 +1 known frame_shift_del c.1515_1518 p.K507fs 1.000:1.000:1.000:1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND15 HGNC ENSG00000141497 83 0 0 44 13 22.807 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 295 0 0 170 23 11.9171 USP32 0 genome.wustl.edu 37 17 58303555 58303555 + Frame_Shift_Del DEL A A - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 58303555 58303555 A - DEL USP32 ENST00000300896 human ensembl 74_37 -1 known frame_shift_del c.1277 p.L426fs 0.999 pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 101 0 0 65 18 21.6867 TP53 0 genome.wustl.edu 37 17 7578521 7578523 + In_Frame_Del DEL GTT GTT - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 17 7578521 7578523 GTT - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known in_frame_del c.409_407 p.Q136in_frame_del 0.998:1.000:1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 85 0 0 24 33 57.8947 FZR1 0 genome.wustl.edu 37 19 3532525 3532525 + Frame_Shift_Del DEL G G - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 3532525 3532525 G - DEL FZR1 ENST00000395095 human ensembl 74_37 +1 known frame_shift_del c.1119 p.G375fs 0.008 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FZR1 HGNC ENSG00000105325 140 0 0 56 15 21.1268 SIPA1L3 0 genome.wustl.edu 37 19 38573183 38573183 + Frame_Shift_Del DEL C C - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 19 38573183 38573183 C - DEL SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known frame_shift_del c.978 p.P328fs 0.983 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 93 0 0 62 8 11.4286 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 112 0 0 91 20 18.018 CSRP2BP 0 genome.wustl.edu 37 20 18131568 18131569 + Frame_Shift_Ins INS - - T TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 20 18131568 18131569 - T INS CSRP2BP ENST00000435364 human ensembl 74_37 +1 known frame_shift_ins c.482_483 p.L163fs 0.990:0.823 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 175 0 0 190 20 9.52381 CARD10 0 genome.wustl.edu 37 22 37893030 37893031 + In_Frame_Ins INS - - TTGGTT TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 22 37893030 37893031 - TTGGTT INS CARD10 ENST00000251973 human ensembl 74_37 -1 known in_frame_ins c.1943_1942 p.648in_frame_insKP 0.207:0.016 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 328 0 0 200 21 9.50226 SGOL1 0 genome.wustl.edu 37 3 20216050 20216050 + Frame_Shift_Del DEL T T - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 3 20216050 20216050 T - DEL SGOL1 ENST00000263753 human ensembl 74_37 -1 known frame_shift_del c.973 p.M325fs 0.000 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 35 0 0 20 6 23.0769 NDST4 0 genome.wustl.edu 37 4 115997436 115997437 + Frame_Shift_Del DEL AG AG - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 4 115997436 115997437 AG - DEL NDST4 ENST00000264363 human ensembl 74_37 -1 known frame_shift_del c.757_756 p.F253fs 0.967:0.635 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 191 0 0 66 43 39.4495 FAM162B 0 genome.wustl.edu 37 6 117073819 117073826 + Frame_Shift_Del DEL CCAAGTTC CCAAGTTC - TCGA-B7-A5TJ-01A-11D-A31L-08 TCGA-B7-A5TJ-10A-01D-A31J-08 CCAAGTTC CCAAGTTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b60ba65-2ca6-4dbb-adca-acf7863689fa 56421cb1-bc24-49b9-ae79-41b5ab94bf5a 6 117073819 117073826 CCAAGTTC - DEL FAM162B ENST00000368557 human ensembl 74_37 -1 known frame_shift_del c.430_423 p.W141fs 1.000:1.000:1.000:0.996:0.996:1.000:1.000:0.999 pfam_DUF1075 pfam_DUF1075 - no_errors FAM162B HGNC ENSG00000183807 206 0 0 150 14 8.53659