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 ABCA3 0 genome.wustl.edu 37 16 2345651 2345651 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 16 2345651 2345651 G A SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.2354 p.T785M 0.756 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 tier1 - - 73 0 0.00 27 15 35.71 ACAA2 0 genome.wustl.edu 37 18 47320775 47320775 + Nonsense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 18 47320775 47320775 G T SNP ACAA2 ENST00000285093 human ensembl 74_37 -1 known nonsense c.452 p.S151* 0.000 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA2 HGNC ENSG00000167315 61 0 0.00 45 3 6.25 ACO2 0 genome.wustl.edu 37 22 41865178 41865178 + Missense_Mutation SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 22 41865178 41865178 C G SNP ACO2 ENST00000216254 human ensembl 74_37 +1 known missense c.28 p.R10G 1.000 NULL pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like - no_errors ACO2 HGNC ENSG00000100412 tier1 - - 83 0 0.00 33 37 52.86 ADAMTS16 0 genome.wustl.edu 37 5 5303454 5303454 + Missense_Mutation SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 5 5303454 5303454 A G SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.2863 p.T955A 0.020 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_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,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 tier1 - - 40 0 0.00 18 18 50.00 ADC 0 genome.wustl.edu 37 1 33560275 33560275 + Silent SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 33560275 33560275 C G SNP ADC ENST00000373441 human ensembl 74_37 +1 known silent c.714 p.G238 0.999 pfam_De-COase2_N pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors ADC HGNC ENSG00000142920 tier1 - - 79 0 0.00 40 18 31.03 ADCY8 0 genome.wustl.edu 37 8 131859748 131859748 + Missense_Mutation SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 8 131859748 131859748 A C SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.2424 p.D808E 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 63 0 0.00 46 15 24.59 AGPS 0 genome.wustl.edu 37 2 178326678 178326678 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 178326678 178326678 G T SNP AGPS ENST00000264167 human ensembl 74_37 +1 known missense c.928 p.V310L 0.993 pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors AGPS HGNC ENSG00000018510 tier1 - - 84 0 0.00 72 5 6.49 AJAP1 0 genome.wustl.edu 37 1 4832493 4832493 + Silent SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 4832493 4832493 T C SNP AJAP1 ENST00000378190 human ensembl 74_37 +1 known silent c.1071 p.S357 0.007 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 tier1 - - 39 0 0.00 32 12 27.27 AKAP1 0 genome.wustl.edu 37 17 55182920 55182920 + Missense_Mutation SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 17 55182920 55182920 A G SNP AKAP1 ENST00000337714 human ensembl 74_37 +1 known missense c.95 p.H32R 0.405 NULL pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors AKAP1 HGNC ENSG00000121057 tier1 - - 62 0 0.00 16 24 60.00 AKAP17A 0 genome.wustl.edu 37 X 1712780 1712780 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce X 1712780 1712780 C T SNP AKAP17A ENST00000313871 human ensembl 74_37 +1 known missense c.425 p.P142L 1.000 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 tier1 - - 123 0 0.00 35 90 71.43 ANKRD30B 0 genome.wustl.edu 37 18 14851980 14851980 + Missense_Mutation SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 18 14851980 14851980 A G SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.3680 p.E1227G 0.211 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 tier1 - - 64 0 0.00 56 22 27.85 ANKRD30BP2 0 genome.wustl.edu 37 21 14418386 14418386 + RNA SNP A A T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 21 14418386 14418386 A T SNP ANKRD30BP2 ENST00000507941 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ANKRD30BP2 HGNC ENSG00000224309 tier1 rs201367790 - 17 0 0.00 14 5 26.32 APLNR 0 genome.wustl.edu 37 11 57003544 57003544 + Frame_Shift_Del DEL A A - TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 57003544 57003544 A - DEL APLNR ENST00000257254 human ensembl 74_37 -1 known frame_shift_del c.935 p.F312fs 1.000 pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors APLNR HGNC ENSG00000134817 tier1 55 0 0.00 30 4 11.76 APOB 0 genome.wustl.edu 37 2 21229517 21229517 + Missense_Mutation SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 21229517 21229517 C A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.10223 p.G3408V 1.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 61 0 0.00 24 19 44.19 AQR 0 genome.wustl.edu 37 15 35212634 35212634 + Missense_Mutation SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 15 35212634 35212634 A C SNP AQR ENST00000156471 human ensembl 74_37 -1 known missense c.1120 p.S374A 1.000 NULL superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 tier1 - - 47 0 0.00 34 10 22.73 ARHGAP28 0 genome.wustl.edu 37 18 6870651 6870651 + Missense_Mutation SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 18 6870651 6870651 T C SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known missense c.874 p.Y292H 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 tier1 - - 60 0 0.00 33 14 29.79 ARID1B 0 genome.wustl.edu 37 6 157521973 157521973 + Missense_Mutation SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 157521973 157521973 C A SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known missense c.4365 p.D1455E 0.880 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 tier1 - - 57 0 0.00 45 34 43.04 ARID3B 0 genome.wustl.edu 37 15 74882286 74882286 + Missense_Mutation SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 15 74882286 74882286 A G SNP ARID3B ENST00000346246 human ensembl 74_37 +1 known missense c.823 p.T275A 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3B HGNC ENSG00000179361 tier1 - - 64 0 0.00 28 24 46.15 ARIH2 0 genome.wustl.edu 37 3 48965152 48965152 + Missense_Mutation SNP T T A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 3 48965152 48965152 T A SNP ARIH2 ENST00000356401 human ensembl 74_37 +1 known missense c.161 p.F54Y 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 tier1 - - 70 0 0.00 48 15 23.81 ARL13B 0 genome.wustl.edu 37 3 93762078 93762078 + Nonsense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 3 93762078 93762078 G T SNP ARL13B ENST00000394222 human ensembl 74_37 +1 known nonsense c.1018 p.E340* 1.000 NULL pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL13B HGNC ENSG00000169379 tier1 - - 82 0 0.00 67 4 5.63 ARL5C 0 genome.wustl.edu 37 17 37317573 37317573 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 17 37317573 37317573 C T SNP ARL5C ENST00000269586 human ensembl 74_37 -1 known missense c.287 p.R96Q 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5C HGNC ENSG00000141748 tier1 - - 52 0 0.00 11 15 57.69 ARRDC2 0 genome.wustl.edu 37 19 18119312 18119312 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 19 18119312 18119312 G A SNP ARRDC2 ENST00000222250 human ensembl 74_37 +1 known missense c.193 p.A65T 1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC2 HGNC ENSG00000105643 tier1 - - 44 0 0.00 20 18 47.37 ASAP2 0 genome.wustl.edu 37 2 9515045 9515045 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 9515045 9515045 C T SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known missense c.1718 p.T573M 0.993 superfamily_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 59 0 0.00 35 2 5.41 ATG9B 0 genome.wustl.edu 37 7 150714208 150714208 + Missense_Mutation SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 7 150714208 150714208 A C SNP ATG9B ENST00000377974 human ensembl 74_37 -1 known missense c.2204 p.V735G 1.000 NULL pfam_Autophagy-rel_prot_9 - no_errors ATG9B HGNC ENSG00000181652 tier1 - - 69 0 0.00 20 12 37.50 ATMIN 0 genome.wustl.edu 37 16 81076086 81076086 + Splice_Site SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 16 81076086 81076086 G A SNP ATMIN ENST00000299575 human ensembl 74_37 +1 known splice_site c.662+1 e3+1 1.000 - - - no_errors ATMIN HGNC ENSG00000166454 34 0 0.00 23 6 20.69 ATP10B 0 genome.wustl.edu 37 5 160115050 160115050 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 5 160115050 160115050 C T SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.32 p.R11Q 0.971 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 49 0 0.00 43 3 6.52 ATP2B2 0 genome.wustl.edu 37 3 10370464 10370464 + RNA SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 3 10370464 10370464 A C SNP ATP2B2 ENST00000467702 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ATP2B2 HGNC ENSG00000157087 tier1 - - 45 0 0.00 33 12 26.67 ATP6AP1 0 genome.wustl.edu 37 X 153660199 153660199 + Silent SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce X 153660199 153660199 A G SNP ATP6AP1 ENST00000369762 human ensembl 74_37 +1 known silent c.312 p.A104 0.686 pfam_BIG/ATPase_V1_suS1 pfam_BIG/ATPase_V1_suS1 - no_errors ATP6AP1 HGNC ENSG00000071553 tier1 - - 33 0 0.00 11 15 57.69 ATP8B2 0 genome.wustl.edu 37 1 154315284 154315284 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 154315284 154315284 G A SNP ATP8B2 ENST00000368489 human ensembl 74_37 +1 known missense c.1399 p.V467I 0.503 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,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 ATP8B2 HGNC ENSG00000143515 tier1 - - 62 0 0.00 50 4 7.27 B3GNT3 0 genome.wustl.edu 37 19 17922892 17922892 + Silent SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 19 17922892 17922892 G A SNP B3GNT3 ENST00000318683 human ensembl 74_37 +1 known silent c.1080 p.Q360 0.022 NULL pfam_Glyco_trans_31 - no_errors B3GNT3 HGNC ENSG00000179913 tier1 - - 35 0 0.00 27 4 12.90 BRCA1 0 genome.wustl.edu 37 17 41203114 41203114 + Silent SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 17 41203114 41203114 G T SNP BRCA1 ENST00000471181 human ensembl 74_37 -1 known silent c.5361 p.I1787 1.000 pirsf_BRCA1,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 tier1 - - 44 0 0.00 14 38 73.08 BRD7 0 genome.wustl.edu 37 16 50353169 50353169 + Nonsense_Mutation SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 16 50353169 50353169 C A SNP BRD7 ENST00000394689 human ensembl 74_37 -1 known nonsense c.1912 p.E638* 1.000 NULL pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD7 HGNC ENSG00000166164 45 0 0.00 49 3 5.77 BSPRY 0 genome.wustl.edu 37 9 116116558 116116558 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 9 116116558 116116558 G C SNP BSPRY ENST00000374183 human ensembl 74_37 +1 known missense c.240 p.Q80H 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors BSPRY HGNC ENSG00000119411 tier1 - - 57 0 0.00 39 18 31.58 C16orf54 0 genome.wustl.edu 37 16 29755699 29755699 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 16 29755699 29755699 G C SNP C16orf54 ENST00000329410 human ensembl 74_37 -1 known missense c.574 p.P192A 0.150 NULL NULL - no_errors C16orf54 HGNC ENSG00000185905 tier1 - - 39 0 0.00 10 7 41.18 C17orf99 0 genome.wustl.edu 37 17 76160528 76160528 + RNA SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 17 76160528 76160528 G T SNP C17orf99 ENST00000451352 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors C17orf99 HGNC ENSG00000187997 tier1 - - 25 0 0.00 11 16 59.26 C1orf158 0 genome.wustl.edu 37 1 12806383 12806383 + Missense_Mutation SNP T T G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 12806383 12806383 T G SNP C1orf158 ENST00000288048 human ensembl 74_37 +1 known missense c.5 p.F2C 0.067 NULL NULL - no_errors C1orf158 HGNC ENSG00000157330 tier1 - - 61 0 0.00 74 23 23.71 C1orf194 0 genome.wustl.edu 37 1 109649280 109649280 + Missense_Mutation SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 109649280 109649280 T C SNP C1orf194 ENST00000369948 human ensembl 74_37 -1 known missense c.316 p.T106A 0.223 pfam_DUF3695 pfam_DUF3695 - no_errors C1orf194 HGNC ENSG00000179902 82 0 0.00 38 4 9.52 C4orf50 0 genome.wustl.edu 37 4 5977670 5977670 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 4 5977670 5977670 G T SNP C4orf50 ENST00000531445 human ensembl 74_37 -1 known missense c.1603 p.Q535K 0.002 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 tier1 - - 83 0 0.00 71 4 5.33 C6orf223 0 genome.wustl.edu 37 6 43970524 43970524 + Silent SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 43970524 43970524 G A SNP C6orf223 ENST00000336600 human ensembl 74_37 +1 known silent c.390 p.A130 0.179 NULL NULL - no_errors C6orf223 HGNC ENSG00000181577 34 0 0.00 34 4 10.53 C7 0 genome.wustl.edu 37 5 40934522 40934522 + Silent SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 5 40934522 40934522 A C SNP C7 ENST00000313164 human ensembl 74_37 +1 known silent c.234 p.G78 0.942 pfam_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 tier1 - - 82 0 0.00 59 21 25.61 CACNA1G 0 genome.wustl.edu 37 17 48646258 48646258 + Silent SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 17 48646258 48646258 C T SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known silent c.270 p.V90 0.994 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 tier1 - - 44 0 0.00 45 11 19.64 CAMK1G 0 genome.wustl.edu 37 1 209784837 209784837 + Silent SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 209784837 209784837 G T SNP CAMK1G ENST00000009105 human ensembl 74_37 +1 known silent c.855 p.R285 1.000 superfamily_Kinase-like_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 CAMK1G HGNC ENSG00000008118 86 0 0.00 59 4 6.35 CAPN8 0 genome.wustl.edu 37 1 223803682 223803682 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 223803682 223803682 G A SNP CAPN8 ENST00000366872 human ensembl 74_37 -1 known missense c.1298 p.A433V 0.829 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN8 HGNC ENSG00000203697 tier1 - - 74 0 0.00 84 5 5.62 CAPS2 0 genome.wustl.edu 37 12 75719046 75719046 + Nonsense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 12 75719046 75719046 C T SNP CAPS2 ENST00000409445 human ensembl 74_37 -1 known nonsense c.161 p.W54* 0.857 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CAPS2 HGNC ENSG00000180881 tier1 - - 42 0 0.00 28 7 20.00 CASQ1 0 genome.wustl.edu 37 1 160165779 160165779 + Silent SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 160165779 160165779 C T SNP CASQ1 ENST00000368078 human ensembl 74_37 +1 known silent c.744 p.S248 0.758 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ1 HGNC ENSG00000143318 tier1 - - 48 0 0.00 36 4 10.00 CAT 0 genome.wustl.edu 37 11 34490057 34490058 + RNA INS - - A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 34490057 34490058 - A INS CAT ENST00000525707 human ensembl 74_37 +1 putative rna NULL NULL 0.001:0.000 - - - no_errors CAT HGNC ENSG00000121691 tier1 17 0 0.00 13 3 18.75 CATSPER2 0 genome.wustl.edu 37 15 43939656 43939656 + Missense_Mutation SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 15 43939656 43939656 C A SNP CATSPER2 ENST00000321596 human ensembl 74_37 -1 known missense c.155 p.R52L 0.000 NULL pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 tier1 - - 38 0 0.00 28 4 12.50 CATSPERD 0 genome.wustl.edu 37 19 5754154 5754154 + Silent SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 19 5754154 5754154 G T SNP CATSPERD ENST00000381624 human ensembl 74_37 +1 known silent c.1176 p.L392 0.007 NULL superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 tier1 - - 67 0 0.00 61 4 6.15 CBL 0 genome.wustl.edu 37 11 119169200 119169200 + Missense_Mutation SNP A A T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 119169200 119169200 A T SNP CBL ENST00000264033 human ensembl 74_37 +1 known missense c.2384 p.N795I 0.982 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 tier1 - - 58 0 0.00 60 23 27.71 CCDC171 0 genome.wustl.edu 37 9 15723679 15723679 + Nonsense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 9 15723679 15723679 G T SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known nonsense c.1426 p.E476* 0.976 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 tier1 - - 92 0 0.00 87 5 5.43 CCDC30 0 genome.wustl.edu 37 1 42948562 42948563 + RNA INS - - A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 42948562 42948563 - A INS CCDC30 ENST00000475614 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.003 - - - no_errors CCDC30 HGNC ENSG00000186409 tier1 21 0 0.00 20 7 25.93 CCDC83 0 genome.wustl.edu 37 11 85593712 85593712 + Silent SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 85593712 85593712 T C SNP CCDC83 ENST00000280245 human ensembl 74_37 +1 known silent c.337 p.L113 0.947 NULL NULL - no_errors CCDC83 HGNC ENSG00000150676 tier1 - - 47 0 0.00 42 10 19.23 CCL16 0 genome.wustl.edu 37 17 34305260 34305260 + Missense_Mutation SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 17 34305260 34305260 A G SNP CCL16 ENST00000293275 human ensembl 74_37 -1 known missense c.116 p.L39P 0.004 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL16 HGNC ENSG00000161573 55 0 0.00 36 3 7.69 CD248 0 genome.wustl.edu 37 11 66082572 66082572 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 66082572 66082572 G A SNP CD248 ENST00000311330 human ensembl 74_37 -1 known missense c.1927 p.P643S 0.051 NULL pfam_C-type_lectin,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_C-type_lectin - no_errors CD248 HGNC ENSG00000174807 tier1 - - 78 0 0.00 43 23 34.85 CD27 0 genome.wustl.edu 37 12 6560765 6560765 + RNA SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 12 6560765 6560765 C T SNP CD27 ENST00000541233 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CD27 HGNC ENSG00000139193 tier1 - - 19 0 0.00 2 8 80.00 CD58 0 genome.wustl.edu 37 1 117078739 117078739 + Missense_Mutation SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 117078739 117078739 C A SNP CD58 ENST00000369489 human ensembl 74_37 -1 known missense c.476 p.W159L 0.077 NULL NULL - no_errors CD58 HGNC ENSG00000116815 49 0 0.00 30 2 6.25 CFHR4 0 genome.wustl.edu 37 1 196887491 196887491 + Missense_Mutation SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 196887491 196887491 A C SNP CFHR4 ENST00000367416 human ensembl 74_37 +1 known missense c.1689 p.Q563H 0.011 superfamily_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC ENSG00000134365 tier1 - - 55 0 0.00 34 16 32.00 CFP 0 genome.wustl.edu 37 X 47485920 47485920 + Splice_Site SNP T T A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce X 47485920 47485920 T A SNP CFP ENST00000247153 human ensembl 74_37 -1 known splice_site c.941-2 e7-2 0.993 - - - no_errors CFP HGNC ENSG00000126759 tier1 - - 34 0 0.00 41 17 29.31 CHAMP1 0 genome.wustl.edu 37 13 115090509 115090509 + Nonsense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 13 115090509 115090509 C T SNP CHAMP1 ENST00000361283 human ensembl 74_37 +1 known nonsense c.1192 p.R398* 0.995 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CHAMP1 HGNC ENSG00000198824 tier1 - - 47 0 0.00 26 23 46.94 CHD5 0 genome.wustl.edu 37 1 6196804 6196804 + Missense_Mutation SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 6196804 6196804 T C SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.2558 p.K853R 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 tier1 - - 78 0 0.00 77 19 19.79 CHD8 0 genome.wustl.edu 37 14 21853819 21853819 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 14 21853819 21853819 G C SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.7699 p.P2567A 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 tier1 - - 52 0 0.00 28 19 40.43 CHD9 0 genome.wustl.edu 37 16 53358631 53358631 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 16 53358631 53358631 G T SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.8518 p.V2840L 0.392 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 44 0 0.00 51 3 5.56 CHRM3 0 genome.wustl.edu 37 1 240070895 240070895 + Missense_Mutation SNP T T A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 240070895 240070895 T A SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known missense c.144 p.N48K 0.981 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 tier1 - - 81 0 0.00 30 17 36.17 CKAP5 0 genome.wustl.edu 37 11 46802011 46802011 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 46802011 46802011 G T SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known missense c.2274 p.S758R 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 tier1 - - 59 0 0.00 50 4 7.41 CLDN17 0 genome.wustl.edu 37 21 31538814 31538814 + Missense_Mutation SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 21 31538814 31538814 A C SNP CLDN17 ENST00000286808 human ensembl 74_37 -1 known missense c.122 p.I41S 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8 - no_errors CLDN17 HGNC ENSG00000156282 tier1 - - 39 0 0.00 28 13 31.71 CNKSR2 0 genome.wustl.edu 37 X 21624945 21624945 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce X 21624945 21624945 C T SNP CNKSR2 ENST00000379510 human ensembl 74_37 +1 known missense c.2093 p.P698L 1.000 NULL pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 tier1 - - 46 0 0.00 30 21 41.18 CNOT1 0 genome.wustl.edu 37 16 58577327 58577327 + Missense_Mutation SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 16 58577327 58577327 A C SNP CNOT1 ENST00000441024 human ensembl 74_37 -1 known missense c.4618 p.F1540V 0.000 NULL superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 49 0 0.00 31 10 24.39 COL15A1 0 genome.wustl.edu 37 9 101785706 101785706 + Missense_Mutation SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 9 101785706 101785706 T C SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known missense c.1829 p.L610P 0.614 NULL pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 tier1 - - 31 0 0.00 58 4 6.45 COL6A1 0 genome.wustl.edu 37 21 47421259 47421259 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 21 47421259 47421259 G A SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known missense c.1915 p.V639I 0.951 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 tier1 - - 67 0 0.00 37 19 33.93 COMMD2 0 genome.wustl.edu 37 3 149459348 149459348 + Missense_Mutation SNP T T G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 3 149459348 149459348 T G SNP COMMD2 ENST00000473414 human ensembl 74_37 -1 known missense c.560 p.K187T 1.000 pfam_HCaRG pfam_HCaRG - no_errors COMMD2 HGNC ENSG00000114744 tier1 - - 60 0 0.00 54 15 21.74 CPS1 0 genome.wustl.edu 37 2 211521321 211521321 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 211521321 211521321 C T SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.3649 p.P1217S 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 tier1 - - 63 0 0.00 89 5 5.32 CPSF7 0 genome.wustl.edu 37 11 61183740 61183740 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 61183740 61183740 G T SNP CPSF7 ENST00000340437 human ensembl 74_37 -1 known missense c.931 p.P311T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF7 HGNC ENSG00000149532 50 0 0.00 41 3 6.82 CRB2 0 genome.wustl.edu 37 9 126133620 126133620 + Missense_Mutation SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 9 126133620 126133620 C A SNP CRB2 ENST00000373631 human ensembl 74_37 +1 known missense c.2199 p.F733L 0.002 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 tier1 - - 121 0 0.00 79 44 35.77 CSMD3 0 genome.wustl.edu 37 8 113421171 113421171 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 8 113421171 113421171 G T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.5486 p.S1829Y 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 35 0 0.00 28 6 17.65 CSMD3 0 genome.wustl.edu 37 8 114326842 114326842 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 8 114326842 114326842 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.359 p.S120L 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 51 0 0.00 31 13 29.55 CSN1S1 0 genome.wustl.edu 37 4 70798299 70798299 + Missense_Mutation SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 4 70798299 70798299 T C SNP CSN1S1 ENST00000246891 human ensembl 74_37 +1 known missense c.26 p.L9P 0.999 NULL NULL - no_errors CSN1S1 HGNC ENSG00000126545 tier1 - - 74 0 0.00 88 23 20.72 CSPG4 0 genome.wustl.edu 37 15 75968270 75968270 + Missense_Mutation SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 15 75968270 75968270 T C SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.6590 p.E2197G 0.044 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 tier1 - - 43 0 0.00 46 10 17.86 CTR9 0 genome.wustl.edu 37 11 10790026 10790026 + Silent SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 10790026 10790026 C T SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known silent c.2097 p.S699 0.991 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 38 0 0.00 23 9 28.12 CXorf30 0 genome.wustl.edu 37 X 36317100 36317100 + Silent SNP T T G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce X 36317100 36317100 T G SNP CXorf30 ENST00000378657 human ensembl 74_37 +1 known silent c.33 p.T11 0.000 NULL NULL - no_errors CXorf30 HGNC ENSG00000205081 tier1 - - 46 0 0.00 60 26 30.23 DCBLD1 0 genome.wustl.edu 37 6 117841079 117841079 + Frame_Shift_Del DEL T T - TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 117841079 117841079 T - DEL DCBLD1 ENST00000338728 human ensembl 74_37 +1 known frame_shift_del c.426 p.L144fs 0.025 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_LCCL,pfam_CUB_dom,superfamily_Galactose-bd-like,superfamily_LCCL,superfamily_CUB_dom,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD1 HGNC ENSG00000164465 tier1 58 0 0.00 37 22 37.29 DCLRE1A 0 genome.wustl.edu 37 10 115608957 115608957 + Frame_Shift_Del DEL T T - TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 10 115608957 115608957 T - DEL DCLRE1A ENST00000361384 human ensembl 74_37 -1 known frame_shift_del c.1907 p.K636fs 1.000 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 tier1 51 0 0.00 25 3 10.71 DCTN1 0 genome.wustl.edu 37 2 74598729 74598729 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 74598729 74598729 G C SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known missense c.580 p.P194A 1.000 NULL pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 tier1 - - 96 0 0.00 64 20 23.81 DDX56 0 genome.wustl.edu 37 7 44611155 44611155 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 7 44611155 44611155 G C SNP DDX56 ENST00000258772 human ensembl 74_37 -1 known missense c.826 p.L276V 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,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 DDX56 HGNC ENSG00000136271 tier1 - - 48 0 0.00 52 11 17.19 DDX56 0 genome.wustl.edu 37 7 44608558 44608558 + Silent SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 7 44608558 44608558 G T SNP DDX56 ENST00000258772 human ensembl 74_37 -1 known silent c.1327 p.R443 0.254 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,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 DDX56 HGNC ENSG00000136271 49 0 0.00 50 3 5.66 DECR1 0 genome.wustl.edu 37 8 91057130 91057130 + Silent SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 8 91057130 91057130 C T SNP DECR1 ENST00000220764 human ensembl 74_37 +1 known silent c.792 p.G264 0.095 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors DECR1 HGNC ENSG00000104325 tier1 - - 97 0 0.00 68 15 18.07 DEPDC5 0 genome.wustl.edu 37 22 32215145 32215145 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 22 32215145 32215145 G A SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.1804 p.A602T 1.000 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 31 0 0.00 54 3 5.26 DLEU2L 0 genome.wustl.edu 37 1 64015236 64015237 + Frame_Shift_Ins INS - - A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 64015236 64015237 - A INS DLEU2L ENST00000340052 human ensembl 74_37 +1 known frame_shift_ins c.143_144 p.N51fs 0.562:0.557 NULL NULL - no_errors DLEU2L HGNC ENSG00000116652 tier1 57 0 0.00 54 26 32.50 DNAH1 0 genome.wustl.edu 37 3 52416392 52416392 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 3 52416392 52416392 G T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.7862 p.W2621L 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 tier1 - - 33 0 0.00 41 11 21.15 DNAH8 0 genome.wustl.edu 37 6 38705616 38705616 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 38705616 38705616 G C SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.333 p.K111N 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 tier1 - - 37 0 0.00 39 8 17.02 DNM3 0 genome.wustl.edu 37 1 172357927 172357927 + Missense_Mutation SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 172357927 172357927 A G SNP DNM3 ENST00000358155 human ensembl 74_37 +1 known missense c.2500 p.R834G 0.004 NULL pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM3 HGNC ENSG00000197959 tier1 - - 74 0 0.00 70 4 5.41 DNMT3B 0 genome.wustl.edu 37 20 31394058 31394058 + Missense_Mutation SNP A A T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 20 31394058 31394058 A T SNP DNMT3B ENST00000328111 human ensembl 74_37 +1 known missense c.2345 p.K782I 1.000 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 tier1 - - 66 0 0.00 27 16 37.21 DPY19L2P1 0 genome.wustl.edu 37 7 35131480 35131480 + RNA SNP A A T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 7 35131480 35131480 A T SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 86 0 0.00 73 4 5.19 DRD1 0 genome.wustl.edu 37 5 174869480 174869480 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 5 174869480 174869480 G A SNP DRD1 ENST00000393752 human ensembl 74_37 -1 known missense c.623 p.A208V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D1_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_ADR_fam - no_errors DRD1 HGNC ENSG00000184845 tier1 - - 63 0 0.00 33 17 34.00 DRD2 0 genome.wustl.edu 37 11 113285184 113285184 + Splice_Site SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 113285184 113285184 C A SNP DRD2 ENST00000355319 human ensembl 74_37 -1 known splice_site c.724-1 e5-1 1.000 - - - no_errors DRD2 HGNC ENSG00000149295 tier1 - - 68 0 0.00 47 4 7.84 DST 0 genome.wustl.edu 37 6 56437023 56437023 + Silent SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 56437023 56437023 T C SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.13503 p.E4501 1.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 128 0 0.00 67 28 29.47 DUOX2 0 genome.wustl.edu 37 15 45392330 45392330 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 15 45392330 45392330 G T SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.3102 p.F1034L 0.996 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 28 0 0.00 31 2 6.06 DUS2 0 genome.wustl.edu 37 16 68112390 68112390 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 16 68112390 68112390 G T SNP DUS2 ENST00000358896 human ensembl 74_37 +1 known missense c.1213 p.V405F 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom pfam_tRNA_hU_synthase,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom - no_errors DUS2 HGNC ENSG00000167264 tier1 - - 77 0 0.00 46 22 32.35 EHMT2 0 genome.wustl.edu 37 6 31855704 31855704 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 31855704 31855704 G T SNP EHMT2 ENST00000395728 human ensembl 74_37 -1 known missense c.1951 p.P651T 0.916 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 tier1 - - 48 0 0.00 27 4 12.90 ENSG00000187812 0 genome.wustl.edu 37 15 76071775 76071775 + RNA SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 15 76071775 76071775 C T SNP ENSG00000187812 ENST00000395215 human ensembl 74_37 +1 known rna NULL NULL 0.924 - - - no_errors RP11-24M17.5 Clone_based_vega_gene ENSG00000187812 tier1 - - 269 0 0.00 285 66 18.80 ENSG00000203849 0 genome.wustl.edu 37 1 142713947 142713947 + RNA SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 142713947 142713947 A C SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 tier1 - - 94 0 0.00 61 23 27.38 ENSG00000214043 0 genome.wustl.edu 37 12 126932561 126932561 + RNA SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 12 126932561 126932561 C A SNP ENSG00000214043 ENST00000397346 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP5-944M2.3 Clone_based_vega_gene ENSG00000214043 tier1 - - 28 0 0.00 19 7 26.92 ENSG00000214043 0 genome.wustl.edu 37 12 126932562 126932562 + RNA SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 12 126932562 126932562 A G SNP ENSG00000214043 ENST00000397346 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP5-944M2.3 Clone_based_vega_gene ENSG00000214043 tier1 - - 29 0 0.00 20 7 25.93 ENSG00000221395 0 genome.wustl.edu 37 16 82875772 82875772 + RNA SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 16 82875772 82875772 C T SNP ENSG00000221395 ENST00000408468 human ensembl 74_37 +1 novel rna NULL NULL 0.001 - - - no_errors AC099506.1 Clone_based_ensembl_gene ENSG00000221395 tier1 - - 22 0 0.00 18 4 18.18 ENSG00000221478 0 genome.wustl.edu 37 19 23369079 23369079 + RNA SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 19 23369079 23369079 T C SNP ENSG00000221478 ENST00000408551 human ensembl 74_37 +1 novel rna NULL NULL 0.119 - - - no_errors AC092329.1 Clone_based_ensembl_gene ENSG00000221478 tier1 - - 114 0 0.00 64 22 25.58 ENSG00000228404 0 genome.wustl.edu 37 21 47608483 47608483 + RNA SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 21 47608483 47608483 C A SNP ENSG00000228404 ENST00000415026 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AP001468.58 Clone_based_vega_gene ENSG00000228404 tier1 - - 31 0 0.00 10 4 28.57 ENSG00000235994 0 genome.wustl.edu 37 6 168377339 168377339 + RNA DEL A A - TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 168377339 168377339 A - DEL ENSG00000235994 ENST00000441716 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors RP3-470B24.5 Clone_based_vega_gene ENSG00000235994 tier1 113 0 0.00 105 27 20.45 ENSG00000255622 0 genome.wustl.edu 37 5 140535954 140535954 + Silent SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 5 140535954 140535954 T C SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known silent c.378 p.D126 0.061 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB17 Uniprot_gn ENSG00000255622 tier1 - - 56 0 0.00 44 24 35.29 ENSG00000259932 0 genome.wustl.edu 37 15 45490862 45490862 + RNA SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 15 45490862 45490862 T C SNP ENSG00000259932 ENST00000568314 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2651B20.7 Clone_based_vega_gene ENSG00000259932 tier1 - - 14 0 0.00 3 6 66.67 ENSG00000261405 0 genome.wustl.edu 37 16 33365566 33365566 + RNA SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 16 33365566 33365566 C G SNP ENSG00000261405 ENST00000568520 human ensembl 74_37 -1 known rna NULL NULL 0.857 - - - no_errors RP11-23E10.4 Clone_based_vega_gene ENSG00000261405 tier1 - - 158 0 0.00 135 11 7.53 ENSG00000272299 0 genome.wustl.edu 37 13 64411550 64411550 + RNA SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 13 64411550 64411550 A G SNP ENSG00000272299 ENST00000606894 human ensembl 74_37 -1 known rna NULL NULL 0.886 - - - no_errors RP11-394A14.4 Clone_based_vega_gene ENSG00000272299 tier1 - - 36 0 0.00 8 16 66.67 EPB41L1 0 genome.wustl.edu 37 20 34776333 34776333 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 20 34776333 34776333 G T SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known missense c.938 p.R313L 1.000 pfam_FERM_PH-like_C,pirsf_Band_41_protein,pfscan_FERM_domain pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 45 0 0.00 36 2 5.26 EPHA5 0 genome.wustl.edu 37 4 66230799 66230799 + Missense_Mutation SNP T T G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 4 66230799 66230799 T G SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.2172 p.E724D 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 tier1 - - 108 0 0.00 64 20 23.81 EPS15L1 0 genome.wustl.edu 37 19 16472781 16472781 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 19 16472781 16472781 C T SNP EPS15L1 ENST00000455140 human ensembl 74_37 -1 known missense c.2395 p.V799I 0.998 NULL superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ENSG00000127527 tier1 - - 96 0 0.00 72 26 26.26 EPSTI1 0 genome.wustl.edu 37 13 43469163 43469163 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 13 43469163 43469163 C T SNP EPSTI1 ENST00000313640 human ensembl 74_37 -1 known missense c.930 p.M310I 1.000 NULL NULL - no_errors EPSTI1 HGNC ENSG00000133106 tier1 - - 90 0 0.00 18 24 57.14 ERCC6L 0 genome.wustl.edu 37 X 71427369 71427369 + Silent SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce X 71427369 71427369 C T SNP ERCC6L ENST00000334463 human ensembl 74_37 -1 known silent c.1248 p.L416 0.993 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 17 0 0.00 23 4 14.81 ERCC6L2 0 genome.wustl.edu 37 9 98717101 98717101 + Missense_Mutation SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 9 98717101 98717101 C G SNP ERCC6L2 ENST00000456993 human ensembl 74_37 +1 known missense c.1018 p.P340A 0.001 pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 tier1 - - 82 0 0.00 39 19 32.76 EYS 0 genome.wustl.edu 37 6 65300523 65300523 + Missense_Mutation SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 65300523 65300523 A G SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.5237 p.F1746S 0.033 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 72 0 0.00 57 29 33.72 FAM189A1 0 genome.wustl.edu 37 15 29428638 29428638 + Silent SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 15 29428638 29428638 G A SNP FAM189A1 ENST00000261275 human ensembl 74_37 -1 known silent c.858 p.P286 0.426 NULL pfam_CD20-like - no_errors FAM189A1 HGNC ENSG00000104059 tier1 - - 99 0 0.00 78 32 29.09 FAM205B 0 genome.wustl.edu 37 9 34834109 34834109 + RNA SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 9 34834109 34834109 T C SNP FAM205B ENST00000455647 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM205B HGNC ENSG00000257198 40 0 0.00 9 9 50.00 FAM208A 0 genome.wustl.edu 37 3 56661674 56661674 + Missense_Mutation SNP T T G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 3 56661674 56661674 T G SNP FAM208A ENST00000355628 human ensembl 74_37 -1 known missense c.3783 p.L1261F 0.385 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 tier1 - - 44 0 0.00 65 17 20.73 FAT1 0 genome.wustl.edu 37 4 187628224 187628224 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 4 187628224 187628224 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.2758 p.V920I 1.000 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,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,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 - - 33 0 0.00 35 13 27.08 FBLN2 0 genome.wustl.edu 37 3 13611943 13611943 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 3 13611943 13611943 C T SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known missense c.88 p.R30W 0.967 NULL pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 tier1 - - 30 0 0.00 20 8 28.57 FBXW7 0 genome.wustl.edu 37 4 153244238 153244238 + Frame_Shift_Del DEL C C - TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 4 153244238 153244238 C - DEL FBXW7 ENST00000281708 human ensembl 74_37 -1 known frame_shift_del c.1919 p.S640fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 tier1 75 0 0.00 27 16 37.21 FCHSD1 0 genome.wustl.edu 37 5 141024481 141024481 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 5 141024481 141024481 G A SNP FCHSD1 ENST00000435817 human ensembl 74_37 -1 known missense c.1469 p.T490M 0.969 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FCHSD1 HGNC ENSG00000197948 tier1 - - 64 0 0.00 40 22 35.48 FES 0 genome.wustl.edu 37 15 91432539 91432539 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 15 91432539 91432539 G C SNP FES ENST00000328850 human ensembl 74_37 +1 known missense c.672 p.K224N 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FES HGNC ENSG00000182511 52 0 0.00 56 3 5.08 FGD6 0 genome.wustl.edu 37 12 95603631 95603631 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 12 95603631 95603631 C T SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known missense c.1429 p.A477T 0.002 NULL 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 94 0 0.00 53 3 5.36 FIGN 0 genome.wustl.edu 37 2 164467428 164467428 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 164467428 164467428 G T SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.914 p.P305Q 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 39 0 0.00 36 3 7.69 FLOT2 0 genome.wustl.edu 37 17 27209680 27209680 + Missense_Mutation SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 17 27209680 27209680 C A SNP FLOT2 ENST00000394908 human ensembl 74_37 -1 known missense c.376 p.D126Y 1.000 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC ENSG00000132589 tier1 - - 12 0 0.00 8 7 46.67 FMNL1 0 genome.wustl.edu 37 17 43319299 43319299 + Silent SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 17 43319299 43319299 C G SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known silent c.1671 p.A557 0.941 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 11 0 0.00 11 3 21.43 FN1 0 genome.wustl.edu 37 2 216236888 216236888 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 216236888 216236888 G T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.6458 p.P2153Q 1.000 NULL pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 55 0 0.00 69 4 5.48 FOXG1 0 genome.wustl.edu 37 14 29237869 29237869 + Missense_Mutation SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 14 29237869 29237869 A G SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.1384 p.S462G 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 tier1 - - 85 0 0.00 60 32 34.78 FYN 0 genome.wustl.edu 37 6 112015848 112015848 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 112015848 112015848 C T SNP FYN ENST00000354650 human ensembl 74_37 -1 known missense c.1102 p.V368M 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FYN HGNC ENSG00000010810 tier1 - - 61 0 0.00 53 20 27.40 GALNT16 0 genome.wustl.edu 37 14 69818841 69818841 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 14 69818841 69818841 G C SNP GALNT16 ENST00000337827 human ensembl 74_37 +1 known missense c.1633 p.A545P 0.972 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT16 HGNC ENSG00000100626 tier1 - - 60 0 0.00 19 15 44.12 GALR1 0 genome.wustl.edu 37 18 74968128 74968128 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 18 74968128 74968128 G T SNP GALR1 ENST00000299727 human ensembl 74_37 +1 known missense c.681 p.L227F 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GAL1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GAL1_rcpt,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_NPY_rcpt - no_errors GALR1 HGNC ENSG00000166573 59 0 0.00 54 3 5.26 GARNL3 0 genome.wustl.edu 37 9 130106619 130106619 + Splice_Site SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 9 130106619 130106619 G T SNP GARNL3 ENST00000373387 human ensembl 74_37 +1 known splice_site c.1356+1 e15+1 1.000 - - - no_errors GARNL3 HGNC ENSG00000136895 tier1 - - 84 0 0.00 39 25 39.06 GMPR 0 genome.wustl.edu 37 6 16290814 16290814 + Silent SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 16290814 16290814 C T SNP GMPR ENST00000259727 human ensembl 74_37 +1 known silent c.819 p.T273 0.214 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 - no_errors GMPR HGNC ENSG00000137198 tier1 - - 53 0 0.00 17 12 40.00 GOLGB1 0 genome.wustl.edu 37 3 121413865 121413865 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 3 121413865 121413865 G C SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.5490 p.S1830R 0.401 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 tier1 - - 55 0 0.00 47 15 24.19 GPATCH3 0 genome.wustl.edu 37 1 27226852 27226852 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 27226852 27226852 G A SNP GPATCH3 ENST00000361720 human ensembl 74_37 -1 known missense c.82 p.H28Y 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC ENSG00000198746 tier1 - - 73 0 0.00 81 15 15.62 GPATCH3 0 genome.wustl.edu 37 1 27226854 27226856 + In_Frame_Del DEL GCC GCC - TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 27226854 27226856 GCC - DEL GPATCH3 ENST00000361720 human ensembl 74_37 -1 known in_frame_del c.80_78 p.A27in_frame_del 1.000:1.000:1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC ENSG00000198746 tier1 73 0 0.00 81 13 13.83 GPC6 0 genome.wustl.edu 37 13 94680021 94680021 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 13 94680021 94680021 G T SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.750 p.K250N 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 tier1 - - 74 0 0.00 58 19 24.05 GPC6 0 genome.wustl.edu 37 13 94680086 94680086 + Missense_Mutation SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 13 94680086 94680086 A G SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.815 p.N272S 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 tier1 - - 74 0 0.00 57 21 26.92 GPC6 0 genome.wustl.edu 37 13 94680141 94680141 + Silent SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 13 94680141 94680141 G A SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known silent c.870 p.L290 0.984 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 tier1 - - 63 0 0.00 41 16 28.07 GPR56 0 genome.wustl.edu 37 16 57690476 57690476 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 16 57690476 57690476 G C SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known missense c.1114 p.E372Q 0.097 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR56 HGNC ENSG00000205336 tier1 - - 36 0 0.00 29 9 23.68 GPR98 0 genome.wustl.edu 37 5 90106393 90106393 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 5 90106393 90106393 G A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.15316 p.D5106N 0.012 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 33 0 0.00 27 10 27.03 GRK4 0 genome.wustl.edu 37 4 3030927 3030927 + Splice_Site SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 4 3030927 3030927 G T SNP GRK4 ENST00000398052 human ensembl 74_37 +1 known splice_site c.1061-1 e12-1 1.000 - - - no_errors GRK4 HGNC ENSG00000125388 tier1 - - 73 0 0.00 68 4 5.56 GRM1 0 genome.wustl.edu 37 6 146720652 146720652 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 146720652 146720652 C T SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.2477 p.A826V 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 tier1 - - 63 0 0.00 44 26 37.14 HACE1 0 genome.wustl.edu 37 6 105239382 105239382 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 105239382 105239382 G T SNP HACE1 ENST00000262903 human ensembl 74_37 -1 known missense c.1071 p.F357L 1.000 NULL pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt - no_errors HACE1 HGNC ENSG00000085382 tier1 - - 68 0 0.00 66 4 5.71 HAPLN4 0 genome.wustl.edu 37 19 19369550 19369550 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 19 19369550 19369550 G A SNP HAPLN4 ENST00000291481 human ensembl 74_37 -1 known missense c.599 p.A200V 1.000 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 - - 70 0 0.00 45 20 30.77 HECW2 0 genome.wustl.edu 37 2 197184343 197184343 + Missense_Mutation SNP T T G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 197184343 197184343 T G SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.1271 p.E424A 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 19 0 0.00 16 3 15.79 HERC2P3 0 genome.wustl.edu 37 15 20588510 20588510 + RNA SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 15 20588510 20588510 T C SNP HERC2P3 ENST00000428453 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors HERC2P3 HGNC ENSG00000180229 tier1 - - 69 0 0.00 48 13 21.31 HIAT1 0 genome.wustl.edu 37 1 100547618 100547618 + Silent SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 100547618 100547618 G C SNP HIAT1 ENST00000370152 human ensembl 74_37 +1 known silent c.1326 p.L442 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIAT1 HGNC ENSG00000156875 tier1 - - 29 0 0.00 38 4 9.52 HLX 0 genome.wustl.edu 37 1 221057991 221057991 + Missense_Mutation SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 221057991 221057991 C G SNP HLX ENST00000366903 human ensembl 74_37 +1 known missense c.1412 p.A471G 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors HLX HGNC ENSG00000136630 tier1 - - 47 0 0.00 20 8 28.57 HOXB2 0 genome.wustl.edu 37 17 46621976 46621976 + Nonsense_Mutation SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 17 46621976 46621976 C A SNP HOXB2 ENST00000330070 human ensembl 74_37 -1 known nonsense c.298 p.E100* 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB2 HGNC ENSG00000173917 tier1 - - 171 0 0.00 128 45 26.01 HRNR 0 genome.wustl.edu 37 1 152187200 152187200 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 152187200 152187200 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.6905 p.R2302H 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 22 0 0.00 14 4 22.22 HRNR 0 genome.wustl.edu 37 1 152192643 152192643 + Missense_Mutation SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 152192643 152192643 A C SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.1462 p.S488A 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 132 0 0.00 71 24 25.26 HSH2D 0 genome.wustl.edu 37 19 16268588 16268588 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 19 16268588 16268588 G T SNP HSH2D ENST00000253680 human ensembl 74_37 +1 known missense c.1042 p.A348S 0.992 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors HSH2D HGNC ENSG00000196684 56 0 0.00 52 3 5.45 IGSF22 0 genome.wustl.edu 37 11 18735564 18735564 + Missense_Mutation SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 18735564 18735564 C A SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known missense c.1930 p.D644Y 0.991 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF22 HGNC ENSG00000179057 tier1 - - 78 0 0.00 40 13 24.53 IL1RAPL1 0 genome.wustl.edu 37 X 29973907 29973907 + Silent SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce X 29973907 29973907 G A SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known silent c.2061 p.R687 1.000 NULL pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 tier1 - - 21 0 0.00 19 8 29.63 IRS1 0 genome.wustl.edu 37 2 227661413 227661413 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 227661413 227661413 C T SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known missense c.2042 p.S681N 0.749 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 tier1 - - 64 0 0.00 34 13 27.66 ISX 0 genome.wustl.edu 37 22 35463110 35463110 + Missense_Mutation SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 22 35463110 35463110 C G SNP ISX ENST00000308700 human ensembl 74_37 +1 known missense c.30 p.C10W 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ISX HGNC ENSG00000175329 tier1 - - 61 0 0.00 13 25 65.79 ITGA4 0 genome.wustl.edu 37 2 182350629 182350629 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 182350629 182350629 G A SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known missense c.1063 p.E355K 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 tier1 - - 74 0 0.00 55 18 24.66 ITIH5 0 genome.wustl.edu 37 10 7618751 7618751 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 10 7618751 7618751 C T SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.1643 p.R548Q 0.001 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 tier1 - - 38 0 0.00 55 12 17.91 JPH3 0 genome.wustl.edu 37 16 87637893 87637893 + RNA DEL C C - TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 16 87637893 87637893 C - DEL JPH3 ENST00000301008 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors JPH3 HGNC ENSG00000154118 tier1 67 0 0.00 65 7 9.72 KANK1 0 genome.wustl.edu 37 9 730236 730236 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 9 730236 730236 G A SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known missense c.2884 p.A962T 0.017 smart_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 65 0 0.00 67 4 5.63 KCNH1 0 genome.wustl.edu 37 1 211093344 211093344 + Missense_Mutation SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 211093344 211093344 T C SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.1100 p.K367R 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_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,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 tier1 - - 40 0 0.00 16 18 52.94 KCNJ15 0 genome.wustl.edu 37 21 39671472 39671472 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 21 39671472 39671472 C T SNP KCNJ15 ENST00000328656 human ensembl 74_37 +1 known missense c.289 p.P97S 0.001 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ15 HGNC ENSG00000157551 tier1 - - 91 0 0.00 52 22 29.73 KCNK2 0 genome.wustl.edu 37 1 215259759 215259759 + Missense_Mutation SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 215259759 215259759 A C SNP KCNK2 ENST00000444842 human ensembl 74_37 +1 known missense c.95 p.K32T 1.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC ENSG00000082482 tier1 - - 83 0 0.00 37 10 21.28 KCNQ1DN 0 genome.wustl.edu 37 11 2892044 2892044 + RNA SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 2892044 2892044 C G SNP KCNQ1DN ENST00000441418 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors KCNQ1DN HGNC ENSG00000237941 tier1 - - 67 0 0.00 34 16 32.00 KCP 0 genome.wustl.edu 37 7 128534279 128534279 + RNA SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 7 128534279 128534279 G A SNP KCP ENST00000297801 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors KCP HGNC ENSG00000135253 tier1 - - 155 0 0.00 55 47 46.08 KDM4A 0 genome.wustl.edu 37 1 44132051 44132051 + RNA SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 44132051 44132051 G T SNP KDM4A ENST00000472265 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors KDM4A HGNC ENSG00000066135 tier1 - - 42 0 0.00 25 15 37.50 KDM4D 0 genome.wustl.edu 37 11 94731549 94731549 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 94731549 94731549 G A SNP KDM4D ENST00000335080 human ensembl 74_37 +1 known missense c.1013 p.R338H 0.001 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC ENSG00000186280 tier1 - - 43 0 0.00 32 22 40.74 KDM6A 0 genome.wustl.edu 37 X 44922979 44922979 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce X 44922979 44922979 G A SNP KDM6A ENST00000382899 human ensembl 74_37 +1 known missense c.1861 p.A621T 1.000 NULL pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 tier1 - - 30 0 0.00 39 4 9.30 KIAA1456 0 genome.wustl.edu 37 8 12878968 12878968 + Silent SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 8 12878968 12878968 T C SNP KIAA1456 ENST00000524591 human ensembl 74_37 +1 known silent c.780 p.T260 0.049 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel - no_errors KIAA1456 HGNC ENSG00000250305 tier1 - - 28 0 0.00 16 8 33.33 KIF13B 0 genome.wustl.edu 37 8 28929564 28929564 + Silent SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 8 28929564 28929564 G A SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known silent c.4791 p.T1597 0.173 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 10 0 0.00 1 2 66.67 KIF18A 0 genome.wustl.edu 37 11 28057867 28057867 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 28057867 28057867 C T SNP KIF18A ENST00000263181 human ensembl 74_37 -1 known missense c.2293 p.D765N 0.001 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC ENSG00000121621 tier1 - - 64 0 0.00 25 20 44.44 KIF27 0 genome.wustl.edu 37 9 86468750 86468750 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 9 86468750 86468750 C T SNP KIF27 ENST00000297814 human ensembl 74_37 -1 known missense c.3151 p.E1051K 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 tier1 - - 51 0 0.00 56 17 23.29 KIFC2 0 genome.wustl.edu 37 8 145692681 145692681 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 8 145692681 145692681 G T SNP KIFC2 ENST00000301332 human ensembl 74_37 +1 known missense c.426 p.Q142H 0.356 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC ENSG00000167702 tier1 - - 100 0 0.00 51 20 28.17 LAX1 0 genome.wustl.edu 37 1 203740067 203740067 + Splice_Site SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 203740067 203740067 T C SNP LAX1 ENST00000442561 human ensembl 74_37 +1 known splice_site c.199+2 e2+2 1.000 - - - no_errors LAX1 HGNC ENSG00000122188 tier1 - - 84 0 0.00 60 4 6.25 LDHAL6A 0 genome.wustl.edu 37 11 18478264 18478264 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 18478264 18478264 G T SNP LDHAL6A ENST00000280706 human ensembl 74_37 +1 known missense c.37 p.A13S 0.000 NULL pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHAL6A HGNC ENSG00000166800 tier1 - - 40 0 0.00 60 4 6.25 LRCH3 0 genome.wustl.edu 37 3 197559084 197559084 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 3 197559084 197559084 C T SNP LRCH3 ENST00000438796 human ensembl 74_37 +1 known missense c.998 p.S333L 1.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH3 HGNC ENSG00000186001 78 0 0.00 34 2 5.56 LRP3 0 genome.wustl.edu 37 19 33696342 33696342 + Silent SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 19 33696342 33696342 G A SNP LRP3 ENST00000253193 human ensembl 74_37 +1 known silent c.666 p.A222 0.384 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP3 HGNC ENSG00000130881 tier1 - - 16 0 0.00 11 7 38.89 LRRK2 0 genome.wustl.edu 37 12 40753152 40753152 + Nonsense_Mutation SNP A A T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 12 40753152 40753152 A T SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known nonsense c.6934 p.R2312* 0.999 superfamily_WD40_repeat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 55 0 0.00 47 12 20.34 MADD 0 genome.wustl.edu 37 11 47307015 47307015 + Silent SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 47307015 47307015 C T SNP MADD ENST00000311027 human ensembl 74_37 +1 known silent c.2425 p.L809 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 40 0 0.00 35 2 5.41 MAGEA10 0 genome.wustl.edu 37 X 151303878 151303878 + Missense_Mutation SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce X 151303878 151303878 T C SNP MAGEA10 ENST00000244096 human ensembl 74_37 -1 known missense c.215 p.E72G 0.008 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA10 HGNC ENSG00000124260 tier1 - - 21 0 0.00 10 14 58.33 MAN1B1 0 genome.wustl.edu 37 9 140000305 140000305 + RNA SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 9 140000305 140000305 T C SNP MAN1B1 ENST00000540391 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MAN1B1 HGNC ENSG00000177239 tier1 - - 30 0 0.00 28 6 17.65 MAPK11 0 genome.wustl.edu 37 22 50705432 50705432 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 22 50705432 50705432 C T SNP MAPK11 ENST00000330651 human ensembl 74_37 -1 known missense c.541 p.G181S 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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_p38,prints_MAPK_JNK - no_errors MAPK11 HGNC ENSG00000185386 tier1 rs200417198 - 43 0 0.00 20 15 42.86 MAPKAP1 0 genome.wustl.edu 37 9 128347859 128347859 + Missense_Mutation SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 9 128347859 128347859 T C SNP MAPKAP1 ENST00000265960 human ensembl 74_37 -1 known missense c.646 p.S216G 0.795 pfam_SIN1 pfam_SIN1 - no_errors MAPKAP1 HGNC ENSG00000119487 tier1 - - 76 0 0.00 49 13 20.97 MARK1 0 genome.wustl.edu 37 1 220752752 220752752 + Silent SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 220752752 220752752 C T SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known silent c.108 p.S36 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 tier1 - - 74 0 0.00 61 4 6.15 MAST2 0 genome.wustl.edu 37 1 46499769 46499769 + Silent SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 46499769 46499769 C A SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known silent c.3699 p.R1233 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 tier1 - - 52 0 0.00 46 4 7.84 MBD3L3 0 genome.wustl.edu 37 19 7056628 7056628 + Missense_Mutation SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 19 7056628 7056628 A G SNP MBD3L3 ENST00000333843 human ensembl 74_37 -1 known missense c.332 p.L111S 0.000 NULL NULL - no_errors MBD3L3 HGNC ENSG00000182315 tier1 - - 184 0 0.00 201 31 13.36 MC3R 0 genome.wustl.edu 37 20 54824726 54824726 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 20 54824726 54824726 G A SNP MC3R ENST00000243911 human ensembl 74_37 +1 known missense c.827 p.C276Y 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC ENSG00000124089 67 0 0.00 72 4 5.19 MCTP2 0 genome.wustl.edu 37 15 94841617 94841617 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 15 94841617 94841617 G T SNP MCTP2 ENST00000357742 human ensembl 74_37 +1 known missense c.123 p.R41S 0.000 NULL pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors MCTP2 HGNC ENSG00000140563 tier1 - - 51 0 0.00 45 4 8.16 MEA1 0 genome.wustl.edu 37 6 42980662 42980662 + Splice_Site SNP A A T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 42980662 42980662 A T SNP MEA1 ENST00000244711 human ensembl 74_37 -1 known splice_site c.406+2 e3+2 1.000 - - - no_errors MEA1 HGNC ENSG00000124733 tier1 - - 57 0 0.00 49 6 10.91 METTL21A 0 genome.wustl.edu 37 2 208489022 208489022 + Silent SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 208489022 208489022 A G SNP METTL21A ENST00000406927 human ensembl 74_37 -1 known silent c.78 p.F26 0.974 NULL pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom - no_errors METTL21A HGNC ENSG00000144401 tier1 - - 107 0 0.00 70 36 33.96 MLLT4 0 genome.wustl.edu 37 6 168276141 168276141 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 168276141 168276141 G T SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.705 p.Q235H 1.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 tier1 - - 80 0 0.00 52 47 47.00 MLN 0 genome.wustl.edu 37 6 33766970 33766970 + Missense_Mutation SNP T T G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 33766970 33766970 T G SNP MLN ENST00000430124 human ensembl 74_37 -1 known missense c.146 p.K49T 1.000 pfam_Motilin_ghrelin pfam_Motilin_assoc,pfam_Motilin_ghrelin - no_errors MLN HGNC ENSG00000096395 tier1 - - 44 0 0.00 37 10 21.28 MLXIPL 0 genome.wustl.edu 37 7 73012035 73012035 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 7 73012035 73012035 G C SNP MLXIPL ENST00000313375 human ensembl 74_37 -1 known missense c.1080 p.N360K 0.975 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIPL HGNC ENSG00000009950 tier1 - - 36 0 0.00 6 13 68.42 MMP16 0 genome.wustl.edu 37 8 89339413 89339413 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 8 89339413 89339413 G C SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.23 p.T8S 1.000 pirsf_Pept_M10A_Metazoans pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 tier1 - - 71 0 0.00 42 16 27.59 MMS22L 0 genome.wustl.edu 37 6 97679434 97679434 + Missense_Mutation SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 97679434 97679434 C G SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known missense c.1397 p.C466S 1.000 NULL superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 tier1 - - 84 0 0.00 53 17 24.29 MROH2B 0 genome.wustl.edu 37 5 41052670 41052670 + Missense_Mutation SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 5 41052670 41052670 A G SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.1127 p.L376P 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 60 0 0.00 31 11 26.19 MRPL49 0 genome.wustl.edu 37 11 64889706 64889706 + RNA SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 64889706 64889706 C G SNP MRPL49 ENST00000524482 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MRPL49 HGNC ENSG00000149792 tier1 - - 39 0 0.00 24 11 31.43 MSRA 0 genome.wustl.edu 37 8 10159088 10159088 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 8 10159088 10159088 G A SNP MSRA ENST00000317173 human ensembl 74_37 +1 known missense c.376 p.E126K 1.000 pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA - no_errors MSRA HGNC ENSG00000175806 tier1 - - 70 0 0.00 44 16 26.67 MT-TI 0 genome.wustl.edu 37 MT 4267 4267 + RNA SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce MT 4267 4267 A G SNP MT-TI ENST00000387365 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-TI HGNC ENSG00000210100 9 0 0.00 7 3 30.00 MT-TP 0 genome.wustl.edu 37 MT 16015 16015 + RNA SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce MT 16015 16015 T C SNP MT-TP ENST00000387461 human ensembl 74_37 -1 known rna NULL NULL NULL - - - no_errors MT-TP HGNC ENSG00000210196 tier1 - - 13 0 0.00 0 10 100.00 MTG1 0 genome.wustl.edu 37 10 135207758 135207758 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 10 135207758 135207758 G A SNP MTG1 ENST00000317502 human ensembl 74_37 +1 known missense c.34 p.A12T 0.045 NULL pfam_GTP_binding_domain,superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF - no_errors MTG1 HGNC ENSG00000148824 tier1 - - 17 0 0.00 15 4 21.05 MTUS2 0 genome.wustl.edu 37 13 29855933 29855933 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 13 29855933 29855933 G A SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2767 p.A923T 0.001 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 94 0 0.00 53 4 7.02 MUC5B 0 genome.wustl.edu 37 11 1247507 1247507 + Splice_Site SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 1247507 1247507 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known splice_site c.199+1 e3+1 0.453 - - - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 206 0 0.00 208 83 28.33 MXI1 0 genome.wustl.edu 37 10 112045704 112045705 + RNA INS - - A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 10 112045704 112045705 - A INS MXI1 ENST00000485566 human ensembl 74_37 +1 known rna NULL NULL 0.991:0.827 - - - no_errors MXI1 HGNC ENSG00000119950 tier1 54 0 0.00 24 5 17.24 MYH2 0 genome.wustl.edu 37 17 10441064 10441064 + Missense_Mutation SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 17 10441064 10441064 T C SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.1505 p.E502G 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom 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 - - 199 0 0.00 49 56 53.33 MYO1D 0 genome.wustl.edu 37 17 31102928 31102929 + Frame_Shift_Ins INS - - A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 17 31102928 31102929 - A INS MYO1D ENST00000318217 human ensembl 74_37 -1 known frame_shift_ins c.518_517 p.K173fs 1.000:1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 tier1 67 0 0.00 28 8 22.22 NAT2 0 genome.wustl.edu 37 8 18258116 18258116 + Silent SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 8 18258116 18258116 T C SNP NAT2 ENST00000286479 human ensembl 74_37 +1 known silent c.603 p.D201 0.980 pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase - no_errors NAT2 HGNC ENSG00000156006 tier1 - - 56 0 0.00 34 15 30.61 NDST4 0 genome.wustl.edu 37 4 115997920 115997920 + Silent SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 4 115997920 115997920 G T SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known silent c.273 p.L91 0.028 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 57 0 0.00 50 3 5.66 NEB 0 genome.wustl.edu 37 2 152471079 152471079 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 152471079 152471079 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.11312 p.R3771H 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,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 - - 79 0 0.00 58 4 6.45 NHSL1 0 genome.wustl.edu 37 6 138794462 138794462 + Missense_Mutation SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 138794462 138794462 T C SNP NHSL1 ENST00000427025 human ensembl 74_37 -1 known missense c.464 p.D155G 1.000 NULL NULL - no_errors NHSL1 HGNC ENSG00000135540 tier1 - - 89 0 0.00 74 16 17.78 NIPBL 0 genome.wustl.edu 37 5 36995692 36995693 + RNA INS - - T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 5 36995692 36995693 - T INS NIPBL ENST00000503274 human ensembl 74_37 +1 known rna NULL NULL 0.869:0.879 - - - no_errors NIPBL HGNC ENSG00000164190 tier1 39 0 0.00 24 5 17.24 NLGN1 0 genome.wustl.edu 37 3 173996750 173996750 + Missense_Mutation SNP T T G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 3 173996750 173996750 T G SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.1079 p.V360G 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 tier1 - - 41 0 0.00 26 12 31.58 NOXO1 0 genome.wustl.edu 37 16 2029801 2029801 + Silent SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 16 2029801 2029801 T C SNP NOXO1 ENST00000397280 human ensembl 74_37 -1 known silent c.705 p.L235 0.000 NULL pfam_SH3_domain,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors NOXO1 HGNC ENSG00000196408 tier1 - - 62 0 0.00 26 14 35.00 NPIPB4 0 genome.wustl.edu 37 16 21890769 21890769 + RNA SNP T T A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 16 21890769 21890769 T A SNP NPIPB4 ENST00000538859 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NPIPB4 HGNC ENSG00000185864 tier1 - - 196 0 0.00 118 16 11.94 NUP153 0 genome.wustl.edu 37 6 17626152 17626152 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 17626152 17626152 G T SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known missense c.3881 p.T1294K 0.999 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 tier1 - - 54 0 0.00 40 4 9.09 OPN5 0 genome.wustl.edu 37 6 47775912 47775912 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 47775912 47775912 G C SNP OPN5 ENST00000371211 human ensembl 74_37 +1 known missense c.779 p.G260A 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin - no_errors OPN5 HGNC ENSG00000124818 tier1 - - 69 0 0.00 40 13 24.53 OR11L1 0 genome.wustl.edu 37 1 248004771 248004771 + Missense_Mutation SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 248004771 248004771 C A SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known missense c.428 p.R143M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 tier1 - - 33 0 0.00 27 9 25.00 OR2A2 0 genome.wustl.edu 37 7 143807174 143807174 + Missense_Mutation SNP T T G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 7 143807174 143807174 T G SNP OR2A2 ENST00000408979 human ensembl 74_37 +1 known missense c.499 p.F167V 0.981 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A2 HGNC ENSG00000221989 tier1 - - 88 0 0.00 24 21 46.67 OR52J3 0 genome.wustl.edu 37 11 5068584 5068584 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 5068584 5068584 G A SNP OR52J3 ENST00000380370 human ensembl 74_37 +1 known missense c.829 p.V277I 0.005 pfam_GPCR_Rhodpsn,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 OR52J3 HGNC ENSG00000205495 tier1 - - 38 0 0.00 31 17 35.42 OR8G5 0 genome.wustl.edu 37 11 124135444 124135444 + Missense_Mutation SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 124135444 124135444 A C SNP OR8G5 ENST00000524943 human ensembl 74_37 +1 known missense c.722 p.N241T 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 OR8G5 HGNC ENSG00000255298 tier1 - - 130 0 0.00 95 37 28.03 OSBP 0 genome.wustl.edu 37 11 59349001 59349001 + Missense_Mutation SNP T T G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 59349001 59349001 T G SNP OSBP ENST00000263847 human ensembl 74_37 -1 known missense c.1705 p.T569P 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP HGNC ENSG00000110048 tier1 - - 40 0 0.00 31 15 32.61 OVCH2 0 genome.wustl.edu 37 11 7718085 7718085 + Missense_Mutation SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 7718085 7718085 A C SNP OVCH2 ENST00000454689 human ensembl 74_37 -1 known missense c.1068 p.S356R 0.019 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH2 HGNC ENSG00000183378 tier1 - - 48 0 0.00 22 8 26.67 PAK6 0 genome.wustl.edu 37 15 40558404 40558404 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 15 40558404 40558404 C T SNP PAK6 ENST00000260404 human ensembl 74_37 +1 known missense c.566 p.S189L 0.006 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK6 HGNC ENSG00000137843 tier1 - - 68 0 0.00 57 24 29.63 PAK7 0 genome.wustl.edu 37 20 9561175 9561175 + Missense_Mutation SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 20 9561175 9561175 A C SNP PAK7 ENST00000353224 human ensembl 74_37 -1 known missense c.607 p.L203V 0.972 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK7 HGNC ENSG00000101349 tier1 - - 48 0 0.00 28 17 36.96 PAMR1 0 genome.wustl.edu 37 11 35489582 35489582 + Missense_Mutation SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 35489582 35489582 A C SNP PAMR1 ENST00000278360 human ensembl 74_37 -1 known missense c.787 p.L263V 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 tier1 - - 21 0 0.00 20 5 20.00 PANK4 0 genome.wustl.edu 37 1 2444348 2444348 + Missense_Mutation SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 2444348 2444348 C G SNP PANK4 ENST00000378466 human ensembl 74_37 -1 known missense c.1706 p.W569S 1.000 pfam_DUF89,superfamily_DUF89,pirsf_PanK_long pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK - no_errors PANK4 HGNC ENSG00000157881 tier1 - - 161 0 0.00 165 36 17.91 PCDH1 0 genome.wustl.edu 37 5 141242988 141242988 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 5 141242988 141242988 G C SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known missense c.2908 p.R970G 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 tier1 - - 59 0 0.00 32 17 34.69 PCDH11X 0 genome.wustl.edu 37 X 91134272 91134272 + Silent SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce X 91134272 91134272 G A SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known silent c.3033 p.P1011 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 rs138111592 - 55 0 0.00 19 26 57.78 PCDHAC1 0 genome.wustl.edu 37 5 140307982 140307982 + Nonsense_Mutation SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 5 140307982 140307982 C A SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known nonsense c.1505 p.S502* 0.082 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 tier1 - - 46 0 0.00 38 13 25.49 PCDHB3 0 genome.wustl.edu 37 5 140480810 140480810 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 5 140480810 140480810 G A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.577 p.E193K 0.984 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 tier1 - - 43 0 0.00 25 10 28.57 PCDHGA11 0 genome.wustl.edu 37 5 140802465 140802465 + Silent SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 5 140802465 140802465 C T SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known silent c.1671 p.N557 0.950 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 tier1 - - 113 0 0.00 75 22 22.68 PCLO 0 genome.wustl.edu 37 7 82467549 82467549 + Missense_Mutation SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 7 82467549 82467549 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.14207 p.L4736R 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 69 0 0.00 15 19 55.88 PCLO 0 genome.wustl.edu 37 7 82581865 82581865 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 7 82581865 82581865 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.8404 p.A2802T 0.996 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 54 0 0.00 34 11 24.44 PDCD11 0 genome.wustl.edu 37 10 105181166 105181166 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 10 105181166 105181166 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.2339 p.A780V 0.049 pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 56 0 0.00 38 2 5.00 PDE10A 0 genome.wustl.edu 37 6 165829695 165829695 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 165829695 165829695 G A SNP PDE10A ENST00000539869 human ensembl 74_37 -1 known missense c.1073 p.A358V 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 tier1 - - 56 0 0.00 75 4 5.06 PDE1A 0 genome.wustl.edu 37 2 183051250 183051250 + Missense_Mutation SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 183051250 183051250 T C SNP PDE1A ENST00000456212 human ensembl 74_37 -1 known missense c.1321 p.I441V 0.991 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1A HGNC ENSG00000115252 tier1 - - 41 0 0.00 21 10 32.26 PGM5 0 genome.wustl.edu 37 9 71015611 71015611 + RNA SNP A A T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 9 71015611 71015611 A T SNP PGM5 ENST00000587852 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors PGM5 HGNC ENSG00000154330 tier1 - - 68 0 0.00 48 35 42.17 PIK3R3 0 genome.wustl.edu 37 1 46598535 46598535 + RNA SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 46598535 46598535 A G SNP PIK3R3 ENST00000493202 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PIK3R3 HGNC ENSG00000117461 tier1 - - 37 0 0.00 33 14 29.79 PITPNM2 0 genome.wustl.edu 37 12 123498552 123498552 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 12 123498552 123498552 C T SNP PITPNM2 ENST00000320201 human ensembl 74_37 -1 known missense c.116 p.G39D 1.000 pfam_PI_transfer pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 tier1 - - 35 0 0.00 13 14 51.85 PITPNM3 0 genome.wustl.edu 37 17 6374666 6374666 + Missense_Mutation SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 17 6374666 6374666 A C SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known missense c.1439 p.L480R 1.000 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 tier1 - - 62 0 0.00 43 15 25.86 PKD1 0 genome.wustl.edu 37 16 2164867 2164867 + Silent SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 16 2164867 2164867 G A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known silent c.2157 p.H719 0.956 tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 tier1 - - 123 0 0.00 93 33 26.19 PLBD2 0 genome.wustl.edu 37 12 113821938 113821938 + Missense_Mutation SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 12 113821938 113821938 A C SNP PLBD2 ENST00000280800 human ensembl 74_37 +1 known missense c.986 p.K329T 0.927 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD2 HGNC ENSG00000151176 tier1 - - 71 0 0.00 25 23 47.92 PLCH1 0 genome.wustl.edu 37 3 155200283 155200283 + Missense_Mutation SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 3 155200283 155200283 A C SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known missense c.3556 p.L1186V 0.643 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 tier1 - - 41 0 0.00 27 15 35.71 PLCZ1 0 genome.wustl.edu 37 12 18872517 18872517 + Missense_Mutation SNP A A T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 12 18872517 18872517 A T SNP PLCZ1 ENST00000266505 human ensembl 74_37 -1 known missense c.417 p.D139E 0.029 pfam_PLipase_C_EF-hand-like pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC ENSG00000139151 tier1 - - 30 0 0.00 13 6 31.58 PLEC 0 genome.wustl.edu 37 8 145001217 145001217 + Silent SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 8 145001217 145001217 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.4284 p.A1428 0.005 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 tier1 - - 52 0 0.00 37 4 9.76 POLI 0 genome.wustl.edu 37 18 51820113 51820113 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 18 51820113 51820113 G T SNP POLI ENST00000579534 human ensembl 74_37 +1 known missense c.1499 p.R500M 0.565 NULL pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLI HGNC ENSG00000101751 39 0 0.00 19 2 9.52 POT1 0 genome.wustl.edu 37 7 124503636 124503636 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 7 124503636 124503636 G A SNP POT1 ENST00000357628 human ensembl 74_37 -1 known missense c.314 p.T105M 1.000 pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 - no_errors POT1 HGNC ENSG00000128513 25 0 0.00 28 2 6.67 POU5F1B 0 genome.wustl.edu 37 8 128428446 128428446 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 8 128428446 128428446 C T SNP POU5F1B ENST00000391675 human ensembl 74_37 +1 known missense c.335 p.P112L 0.094 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU5F1B HGNC ENSG00000212993 tier1 - - 113 0 0.00 73 44 37.61 PPFIA2 0 genome.wustl.edu 37 12 81741361 81741361 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 12 81741361 81741361 G A SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.2183 p.T728I 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 tier1 - - 74 0 0.00 43 5 10.42 PPP1R12B 0 genome.wustl.edu 37 1 202407189 202407190 + Frame_Shift_Ins INS - - T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 202407189 202407190 - T INS PPP1R12B ENST00000480184 human ensembl 74_37 +1 novel frame_shift_ins c.1495_1496 p.F503fs 0.085:0.041 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 PPP1R12B HGNC ENSG00000077157 tier1 31 0 0.00 30 5 14.29 PPP1R14C 0 genome.wustl.edu 37 6 150569908 150569908 + Silent SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 150569908 150569908 G A SNP PPP1R14C ENST00000361131 human ensembl 74_37 +1 known silent c.450 p.R150 1.000 pfam_PP1_inhibitor,superfamily_PP1_inhibitor pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14C HGNC ENSG00000198729 tier1 - - 98 0 0.00 50 39 43.82 PPP2R5C 0 genome.wustl.edu 37 14 102378766 102378766 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 14 102378766 102378766 G A SNP PPP2R5C ENST00000422945 human ensembl 74_37 +1 known missense c.1375 p.E459K 1.000 pfam_PP2A_B56,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5C HGNC ENSG00000078304 tier1 - - 50 0 0.00 19 14 42.42 PRG4 0 genome.wustl.edu 37 1 186277487 186277487 + Missense_Mutation SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 186277487 186277487 A G SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.2636 p.E879G 0.003 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 tier1 - - 76 0 0.00 47 28 37.33 PRR5L 0 genome.wustl.edu 37 11 36440811 36440811 + Silent SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 36440811 36440811 G A SNP PRR5L ENST00000378867 human ensembl 74_37 +1 known silent c.252 p.L84 1.000 pfam_HbrB pfam_HbrB - no_errors PRR5L HGNC ENSG00000135362 tier1 - - 91 0 0.00 62 4 6.06 PRSS8 0 genome.wustl.edu 37 16 31143758 31143758 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 16 31143758 31143758 C T SNP PRSS8 ENST00000317508 human ensembl 74_37 -1 known missense c.697 p.A233T 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS8 HGNC ENSG00000052344 tier1 - - 49 0 0.00 39 4 9.30 PTGER4 0 genome.wustl.edu 37 5 40681181 40681181 + Missense_Mutation SNP T T G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 5 40681181 40681181 T G SNP PTGER4 ENST00000302472 human ensembl 74_37 +1 known missense c.86 p.I29S 1.000 pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 tier1 - - 58 0 0.00 33 17 34.00 PTGER4 0 genome.wustl.edu 37 5 40681182 40681182 + Silent SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 5 40681182 40681182 C A SNP PTGER4 ENST00000302472 human ensembl 74_37 +1 known silent c.87 p.I29 1.000 pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 tier1 - - 57 0 0.00 33 17 34.00 PTPRVP 0 genome.wustl.edu 37 1 202158378 202158378 + RNA SNP A A T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 202158378 202158378 A T SNP PTPRVP ENST00000482597 human ensembl 74_37 +1 known rna NULL NULL 0.958 - - - no_errors PTPRVP HGNC ENSG00000243323 tier1 - - 71 0 0.00 54 4 6.90 RALGDS 0 genome.wustl.edu 37 9 135975619 135975619 + RNA SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 9 135975619 135975619 C T SNP RALGDS ENST00000469972 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RALGDS HGNC ENSG00000160271 tier1 - - 66 0 0.00 20 20 50.00 RAP2A 0 genome.wustl.edu 37 13 98116495 98116495 + Missense_Mutation SNP A A T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 13 98116495 98116495 A T SNP RAP2A ENST00000245304 human ensembl 74_37 +1 known missense c.351 p.K117N 1.000 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 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 RAP2A HGNC ENSG00000125249 tier1 - - 23 0 0.00 15 6 28.57 RASGRF2 0 genome.wustl.edu 37 5 80366374 80366374 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 5 80366374 80366374 G C SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known missense c.607 p.D203H 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 tier1 - - 61 0 0.00 30 6 16.67 RBM28 0 genome.wustl.edu 37 7 127958055 127958055 + Silent SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 7 127958055 127958055 G T SNP RBM28 ENST00000223073 human ensembl 74_37 -1 known silent c.1668 p.A556 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM28 HGNC ENSG00000106344 tier1 - - 50 0 0.00 33 4 10.81 RFC1 0 genome.wustl.edu 37 4 39329211 39329211 + Missense_Mutation SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 4 39329211 39329211 A G SNP RFC1 ENST00000381897 human ensembl 74_37 -1 known missense c.497 p.L166P 1.000 superfamily_P-loop_NTPase,pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 tier1 - - 98 0 0.00 55 19 25.68 RHAG 0 genome.wustl.edu 37 6 49573531 49573531 + Nonsense_Mutation SNP T T A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 49573531 49573531 T A SNP RHAG ENST00000371175 human ensembl 74_37 -1 known nonsense c.1225 p.R409* 0.004 NULL pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHAG HGNC ENSG00000112077 tier1 - - 53 0 0.00 54 4 6.90 RMDN2 0 genome.wustl.edu 37 2 38201326 38201326 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 38201326 38201326 G T SNP RMDN2 ENST00000234195 human ensembl 74_37 +1 known missense c.1130 p.S377I 1.000 NULL NULL - no_errors RMDN2 HGNC ENSG00000115841 tier1 - - 45 0 0.00 42 4 8.70 RN7SKP173 0 genome.wustl.edu 37 20 37390255 37390256 + RNA INS - - TC TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 20 37390255 37390256 - TC INS RN7SKP173 ENST00000362821 human ensembl 74_37 +1 known rna NULL NULL 0.580:0.606 - - - no_errors RN7SKP173 HGNC ENSG00000199691 tier1 9 0 0.00 5 5 50.00 RNF6 0 genome.wustl.edu 37 13 26789577 26789577 + Silent SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 13 26789577 26789577 G T SNP RNF6 ENST00000346166 human ensembl 74_37 -1 known silent c.442 p.R148 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 77 0 0.00 36 2 5.26 ROBO2 0 genome.wustl.edu 37 3 77629225 77629225 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 3 77629225 77629225 G A SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.2456 p.S819N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 31 0 0.00 37 2 5.13 RP2 0 genome.wustl.edu 37 X 46713468 46713468 + Silent SNP T T A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce X 46713468 46713468 T A SNP RP2 ENST00000218340 human ensembl 74_37 +1 known silent c.660 p.I220 0.419 pirsf_Protein_XRP2 pfam_Tubulin-bd_cofactor_C_dom,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2 - no_errors RP2 HGNC ENSG00000102218 tier1 - - 21 0 0.00 22 9 29.03 RPL32P3 0 genome.wustl.edu 37 3 129111880 129111880 + RNA SNP A A T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 3 129111880 129111880 A T SNP RPL32P3 ENST00000514355 human ensembl 74_37 -1 known rna NULL NULL 0.030 - - - no_errors RPL32P3 HGNC ENSG00000251474 tier1 - - 12 0 0.00 14 10 41.67 RUFY3 0 genome.wustl.edu 37 4 71650542 71650542 + Silent SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 4 71650542 71650542 G C SNP RUFY3 ENST00000417478 human ensembl 74_37 +1 known silent c.1197 p.G399 0.971 NULL pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run - no_errors RUFY3 HGNC ENSG00000018189 tier1 - - 35 0 0.00 21 10 32.26 RUFY3 0 genome.wustl.edu 37 4 71650543 71650543 + Nonsense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 4 71650543 71650543 C T SNP RUFY3 ENST00000417478 human ensembl 74_37 +1 known nonsense c.1198 p.Q400* 1.000 NULL pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run - no_errors RUFY3 HGNC ENSG00000018189 tier1 - - 34 0 0.00 21 10 32.26 RXFP2 0 genome.wustl.edu 37 13 32376333 32376333 + Missense_Mutation SNP T T A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 13 32376333 32376333 T A SNP RXFP2 ENST00000298386 human ensembl 74_37 +1 known missense c.2056 p.L686M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP2 HGNC ENSG00000133105 tier1 - - 71 0 0.00 37 4 9.76 S100A2 0 genome.wustl.edu 37 1 153535934 153535934 + Missense_Mutation SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 153535934 153535934 T C SNP S100A2 ENST00000368707 human ensembl 74_37 -1 putative missense c.220 p.S74G 0.980 NULL pfam_S100_Ca-bd_sub - no_errors S100A2 HGNC ENSG00000196754 tier1 - - 66 0 0.00 35 14 28.57 SALL2 0 genome.wustl.edu 37 14 21990864 21990864 + Silent SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 14 21990864 21990864 G T SNP SALL2 ENST00000327430 human ensembl 74_37 -1 known silent c.2998 p.R1000 0.545 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 47 0 0.00 53 3 5.36 SCCPDH 0 genome.wustl.edu 37 1 246921571 246921571 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 246921571 246921571 G T SNP SCCPDH ENST00000366510 human ensembl 74_37 +1 known missense c.608 p.G203V 1.000 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn - no_errors SCCPDH HGNC ENSG00000143653 tier1 - - 72 0 0.00 57 4 6.56 SCG2 0 genome.wustl.edu 37 2 224462806 224462806 + Missense_Mutation SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 224462806 224462806 A C SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known missense c.1195 p.L399V 0.001 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 tier1 - - 52 0 0.00 30 8 20.51 SEC16A 0 genome.wustl.edu 37 9 139350129 139350129 + Silent SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 9 139350129 139350129 C T SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known silent c.5781 p.G1927 0.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 tier1 - - 106 0 0.00 76 43 36.13 SEC16A 0 genome.wustl.edu 37 9 139354317 139354317 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 9 139354317 139354317 C T SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.5083 p.D1695N 1.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 tier1 - - 31 0 0.00 27 10 27.03 SEC61A1 0 genome.wustl.edu 37 3 127788799 127788799 + RNA SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 3 127788799 127788799 C G SNP SEC61A1 ENST00000483956 human ensembl 74_37 +1 known rna NULL NULL 0.095 - - - no_errors SEC61A1 HGNC ENSG00000058262 tier1 - - 42 0 0.00 29 4 12.12 SEL1L2 0 genome.wustl.edu 37 20 13894224 13894224 + RNA SNP T T G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 20 13894224 13894224 T G SNP SEL1L2 ENST00000476952 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SEL1L2 HGNC ENSG00000101251 tier1 - - 11 0 0.00 14 4 22.22 SEMA4C 0 genome.wustl.edu 37 2 97531628 97531628 + Silent SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 97531628 97531628 A G SNP SEMA4C ENST00000305476 human ensembl 74_37 -1 known silent c.297 p.C99 0.292 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4C HGNC ENSG00000168758 tier1 - - 25 0 0.00 28 15 34.88 SERTAD4 0 genome.wustl.edu 37 1 210415432 210415432 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 210415432 210415432 G A SNP SERTAD4 ENST00000367012 human ensembl 74_37 +1 known missense c.821 p.G274D 0.853 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD4 HGNC ENSG00000082497 tier1 - - 37 0 0.00 22 7 24.14 SET 0 genome.wustl.edu 37 9 131455942 131455942 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 9 131455942 131455942 C T SNP SET ENST00000372692 human ensembl 74_37 +1 known missense c.557 p.T186M 1.000 pfam_NAP_family pfam_NAP_family - no_errors SET HGNC ENSG00000119335 tier1 rs150832256 - 29 0 0.00 9 7 43.75 SGOL2 0 genome.wustl.edu 37 2 201436414 201436414 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 201436414 201436414 G A SNP SGOL2 ENST00000357799 human ensembl 74_37 +1 known missense c.1345 p.G449S 0.000 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 27 0 0.00 31 2 6.06 SH3KBP1 0 genome.wustl.edu 37 X 19713154 19713154 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce X 19713154 19713154 G A SNP SH3KBP1 ENST00000379697 human ensembl 74_37 -1 known missense c.536 p.P179L 1.000 superfamily_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 tier1 - - 18 0 0.00 13 15 53.57 SHANK3 0 genome.wustl.edu 37 22 51135697 51135698 + Frame_Shift_Ins INS - - G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 22 51135697 51135698 0 G INS SHANK3 ENST00000262795 human ensembl 74_37 +1 known frame_shift_ins c.1331_1332 p.A447fs 0.000:0.002 NULL pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 15 0 0.00 4 2 33.33 SHISA6 0 genome.wustl.edu 37 17 11461312 11461312 + Silent SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 17 11461312 11461312 G A SNP SHISA6 ENST00000441885 human ensembl 74_37 +1 known silent c.1347 p.T449 0.131 NULL NULL - no_errors SHISA6 HGNC ENSG00000188803 33 0 0.00 18 2 10.00 SIK2 0 genome.wustl.edu 37 11 111593398 111593398 + Missense_Mutation SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 111593398 111593398 C G SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known missense c.2065 p.L689V 1.000 pirsf_Ser/Thr_kinase_SIK1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 tier1 - - 27 0 0.00 13 10 43.48 SLC30A10 0 genome.wustl.edu 37 1 220089150 220089150 + Silent SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 220089150 220089150 G T SNP SLC30A10 ENST00000366926 human ensembl 74_37 -1 known silent c.1099 p.R367 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A10 HGNC ENSG00000196660 tier1 - - 76 0 0.00 66 4 5.71 SLC30A10 0 genome.wustl.edu 37 1 220091715 220091715 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 220091715 220091715 G T SNP SLC30A10 ENST00000366926 human ensembl 74_37 -1 known missense c.840 p.D280E 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A10 HGNC ENSG00000196660 tier1 - - 58 0 0.00 75 5 6.25 SLC35G3 0 genome.wustl.edu 37 17 33521184 33521184 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 17 33521184 33521184 C T SNP SLC35G3 ENST00000297307 human ensembl 74_37 -1 known missense c.143 p.G48D 0.997 NULL pfam_DMT - no_errors SLC35G3 HGNC ENSG00000164729 114 0 0.00 60 4 6.25 SLC7A7 0 genome.wustl.edu 37 14 23243154 23243154 + Silent SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 14 23243154 23243154 G T SNP SLC7A7 ENST00000285850 human ensembl 74_37 -1 known silent c.1417 p.R473 1.000 pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A7 HGNC ENSG00000155465 tier1 - - 43 0 0.00 27 3 10.00 SLC9A3R1 0 genome.wustl.edu 37 17 72764629 72764629 + Missense_Mutation SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 17 72764629 72764629 C G SNP SLC9A3R1 ENST00000262613 human ensembl 74_37 +1 known missense c.911 p.P304R 0.998 pirsf_NaH_exchngr_reg_CF_NHE-RF pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ - no_errors SLC9A3R1 HGNC ENSG00000109062 tier1 - - 73 0 0.00 25 46 64.79 SLU7 0 genome.wustl.edu 37 5 159834513 159834513 + Silent SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 5 159834513 159834513 T C SNP SLU7 ENST00000297151 human ensembl 74_37 -1 known silent c.1095 p.K365 0.999 pfam_Slu7 pfam_Slu7,superfamily_Znf_CCHC - no_errors SLU7 HGNC ENSG00000164609 tier1 - - 50 0 0.00 31 17 35.42 SMARCD1 0 genome.wustl.edu 37 12 50488347 50488347 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 12 50488347 50488347 G C SNP SMARCD1 ENST00000394963 human ensembl 74_37 +1 known missense c.1261 p.D421H 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD1 HGNC ENSG00000066117 tier1 - - 60 0 0.00 25 16 39.02 SMNDC1 0 genome.wustl.edu 37 10 112057441 112057441 + Silent SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 10 112057441 112057441 G C SNP SMNDC1 ENST00000369603 human ensembl 74_37 -1 known silent c.309 p.T103 0.956 pfam_Survival_motor_neuron,smart_Tudor,pfscan_Tudor pfam_Survival_motor_neuron,smart_Tudor,pfscan_Tudor - no_errors SMNDC1 HGNC ENSG00000119953 tier1 - - 71 0 0.00 37 26 40.62 SMOC1 0 genome.wustl.edu 37 14 70477509 70477509 + Silent SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 14 70477509 70477509 C T SNP SMOC1 ENST00000361956 human ensembl 74_37 +1 known silent c.703 p.L235 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SMOC1 HGNC ENSG00000198732 tier1 - - 56 0 0.00 18 21 53.85 SNX6 0 genome.wustl.edu 37 14 35074923 35074923 + Missense_Mutation SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 14 35074923 35074923 T C SNP SNX6 ENST00000362031 human ensembl 74_37 -1 known missense c.307 p.I103V 1.000 pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX6 HGNC ENSG00000129515 tier1 - - 83 0 0.00 55 23 29.49 SPAG17 0 genome.wustl.edu 37 1 118583397 118583397 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 118583397 118583397 G A SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.3122 p.S1041F 0.998 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 tier1 - - 96 0 0.00 64 25 28.09 SPATA5L1 0 genome.wustl.edu 37 15 45713469 45713469 + RNA SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 15 45713469 45713469 G A SNP SPATA5L1 ENST00000533841 human ensembl 74_37 +1 putative rna NULL NULL 0.029 - - - no_errors SPATA5L1 HGNC ENSG00000171763 tier1 - - 28 0 0.00 17 15 46.88 SPP2 0 genome.wustl.edu 37 2 234959516 234959516 + Splice_Site SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 234959516 234959516 G T SNP SPP2 ENST00000168148 human ensembl 74_37 +1 known splice_site c.85+1 e1+1 1.000 - - - no_errors SPP2 HGNC ENSG00000072080 71 0 0.00 47 3 6.00 SPTAN1 0 genome.wustl.edu 37 9 131353868 131353868 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 9 131353868 131353868 G A SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known missense c.3119 p.G1040D 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 tier1 - - 56 0 0.00 40 4 8.89 SSPO 0 genome.wustl.edu 37 7 149511585 149511585 + RNA SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 7 149511585 149511585 G A SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.290 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 30 0 0.00 4 8 66.67 ST13 0 genome.wustl.edu 37 22 41223099 41223099 + Splice_Site SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 22 41223099 41223099 C G SNP ST13 ENST00000216218 human ensembl 74_37 -1 known splice_site c.981+1 e11+1 1.000 - - - no_errors ST13 HGNC ENSG00000100380 tier1 - - 120 0 0.00 22 35 61.40 STIM2 0 genome.wustl.edu 37 4 27010561 27010561 + Missense_Mutation SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 4 27010561 27010561 C G SNP STIM2 ENST00000382009 human ensembl 74_37 +1 known missense c.1711 p.P571A 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM - no_errors STIM2 HGNC ENSG00000109689 tier1 - - 71 0 0.00 37 24 39.34 STX3 0 genome.wustl.edu 37 11 59523091 59523091 + Silent SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 59523091 59523091 C T SNP STX3 ENST00000337979 human ensembl 74_37 +1 known silent c.13 p.L5 0.999 NULL pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX3 HGNC ENSG00000166900 tier1 - - 38 0 0.00 24 10 29.41 SULF1 0 genome.wustl.edu 37 8 70570792 70570792 + RNA SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 8 70570792 70570792 C T SNP SULF1 ENST00000521946 human ensembl 74_37 +1 known rna NULL NULL 0.977 - - - no_errors SULF1 HGNC ENSG00000137573 tier1 - - 43 0 0.00 25 11 30.56 SYNE2 0 genome.wustl.edu 37 14 64430706 64430706 + Missense_Mutation SNP T T A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 14 64430706 64430706 T A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.978 p.F326L 0.025 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 68 0 0.00 65 4 5.80 SYNE2 0 genome.wustl.edu 37 14 64519522 64519522 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 14 64519522 64519522 G T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.8891 p.R2964L 0.002 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 24 0 0.00 25 2 7.41 SYT2 0 genome.wustl.edu 37 1 202574728 202574728 + Missense_Mutation SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 202574728 202574728 A G SNP SYT2 ENST00000367267 human ensembl 74_37 -1 known missense c.173 p.I58T 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT2 HGNC ENSG00000143858 tier1 - - 121 0 0.00 58 25 30.12 TAAR2 0 genome.wustl.edu 37 6 132938983 132938983 + Missense_Mutation SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 132938983 132938983 C A SNP TAAR2 ENST00000367931 human ensembl 74_37 -1 known missense c.362 p.S121I 1.000 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_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR2 HGNC ENSG00000146378 30 0 0.00 32 11 25.58 TAAR2 0 genome.wustl.edu 37 6 132938985 132938985 + Silent SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 132938985 132938985 A G SNP TAAR2 ENST00000367931 human ensembl 74_37 -1 known silent c.360 p.Y120 0.848 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_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR2 HGNC ENSG00000146378 34 0 0.00 32 11 25.58 TAF10 0 genome.wustl.edu 37 11 6632975 6632975 + Frame_Shift_Del DEL C C - TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 6632975 6632975 C - DEL TAF10 ENST00000299424 human ensembl 74_37 -1 known frame_shift_del c.307 p.A103fs 1.000 pirsf_TFIID_30kDa pfam_TFIID_30kDa,pirsf_TFIID_30kDa,prints_TFIID_30kDa - no_errors TAF10 HGNC ENSG00000166337 tier1 18 0 0.00 14 7 33.33 TBC1D9 0 genome.wustl.edu 37 4 141600856 141600856 + Missense_Mutation SNP A A T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 4 141600856 141600856 A T SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known missense c.502 p.Y168N 1.000 pfam_GRAM,smart_GRAM pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 tier1 - - 67 0 0.00 20 14 41.18 TCAIM 0 genome.wustl.edu 37 3 44408948 44408948 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 3 44408948 44408948 G C SNP TCAIM ENST00000342649 human ensembl 74_37 +1 known missense c.320 p.G107A 1.000 NULL NULL - no_errors TCAIM HGNC ENSG00000179152 tier1 - - 69 0 0.00 65 27 29.35 TET2 0 genome.wustl.edu 37 4 106155823 106155823 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 4 106155823 106155823 G C SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.724 p.V242L 1.000 NULL NULL - no_errors TET2 HGNC ENSG00000168769 44 0 0.00 31 2 6.06 TG 0 genome.wustl.edu 37 8 133935598 133935598 + Missense_Mutation SNP A A T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 8 133935598 133935598 A T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.4544 p.Q1515L 1.000 superfamily_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 108 0 0.00 57 22 27.85 THBS2 0 genome.wustl.edu 37 6 169648555 169648555 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 169648555 169648555 C T SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known missense c.566 p.R189Q 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 22 0 0.00 26 2 7.14 THSD7A 0 genome.wustl.edu 37 7 11676143 11676143 + Silent SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 7 11676143 11676143 G A SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known silent c.636 p.S212 0.891 pfam_Thrombospondin_1_rpt,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 THSD7A HGNC ENSG00000005108 20 0 0.00 17 2 10.53 THSD7B 0 genome.wustl.edu 37 2 137872721 137872721 + Silent SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 137872721 137872721 A G SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known silent c.1227 p.K409 1.000 superfamily_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 - - 82 0 0.00 18 26 59.09 TMEM107 0 genome.wustl.edu 37 17 8079571 8079571 + Missense_Mutation SNP A A T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 17 8079571 8079571 A T SNP TMEM107 ENST00000316425 human ensembl 74_37 -1 known missense c.34 p.F12I 1.000 NULL NULL - no_errors TMEM107 HGNC ENSG00000179029 34 0 0.00 28 2 6.67 TMEM202 0 genome.wustl.edu 37 15 72691089 72691089 + Silent SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 15 72691089 72691089 C G SNP TMEM202 ENST00000341689 human ensembl 74_37 +1 known silent c.177 p.L59 1.000 NULL NULL - no_errors TMEM202 HGNC ENSG00000187806 tier1 - - 34 0 0.00 9 21 70.00 TMEM37 0 genome.wustl.edu 37 2 120194856 120194856 + Missense_Mutation SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 120194856 120194856 C A SNP TMEM37 ENST00000306406 human ensembl 74_37 +1 known missense c.413 p.S138Y 0.664 NULL NULL - no_errors TMEM37 HGNC ENSG00000171227 95 0 0.00 55 3 5.17 TMEM8C 0 genome.wustl.edu 37 9 136385396 136385396 + Silent SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 9 136385396 136385396 G A SNP TMEM8C ENST00000339996 human ensembl 74_37 -1 known silent c.150 p.C50 0.763 pfam_DUF3522 pfam_DUF3522 - no_errors TMEM8C HGNC ENSG00000187616 tier1 - - 33 0 0.00 18 3 14.29 TMIE 0 genome.wustl.edu 37 3 46751074 46751076 + In_Frame_Del DEL AAG AAG - TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 3 46751074 46751076 AAG - DEL TMIE ENST00000326431 human ensembl 74_37 +1 known in_frame_del c.367_369 p.K126in_frame_del 0.074:0.151:0.294 NULL NULL - no_errors TMIE HGNC ENSG00000181585 tier1 46 0 0.00 25 3 10.71 TMPRSS3 0 genome.wustl.edu 37 21 43809063 43809063 + Silent SNP T T C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 21 43809063 43809063 T C SNP TMPRSS3 ENST00000380399 human ensembl 74_37 -1 known silent c.549 p.K183 0.186 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_Peptidase_S1,pfam_SRCR,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS3 HGNC ENSG00000160183 tier1 - - 40 0 0.00 74 10 11.90 TNC 0 genome.wustl.edu 37 9 117786271 117786271 + Missense_Mutation SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 9 117786271 117786271 C A SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.6476 p.G2159V 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 tier1 - - 64 0 0.00 30 16 34.78 TNFAIP3 0 genome.wustl.edu 37 6 138192616 138192616 + Missense_Mutation SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 138192616 138192616 C G SNP TNFAIP3 ENST00000237289 human ensembl 74_37 +1 known missense c.252 p.N84K 1.000 NULL pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC ENSG00000118503 tier1 - - 43 0 0.00 21 12 36.36 TNFRSF19 0 genome.wustl.edu 37 13 24190184 24190184 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 13 24190184 24190184 G C SNP TNFRSF19 ENST00000382258 human ensembl 74_37 +1 known missense c.359 p.G120A 1.000 NULL smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19 - no_errors TNFRSF19 HGNC ENSG00000127863 tier1 - - 52 0 0.00 9 14 60.87 TP53 0 genome.wustl.edu 37 17 7578412 7578412 + Missense_Mutation SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 17 7578412 7578412 A C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.518 p.V173G 0.995 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 - - 42 0 0.00 8 24 75.00 TPRX2P 0 genome.wustl.edu 37 19 48364761 48364761 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 19 48364761 48364761 G A SNP TPRX2P ENST00000535362 human ensembl 74_37 +1 known missense c.973 p.D325N 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TPRX2P HGNC ENSG00000259009 tier1 - - 45 0 0.00 28 11 28.21 TRHDE 0 genome.wustl.edu 37 12 72771817 72771817 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 12 72771817 72771817 G A SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.1096 p.G366R 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 tier1 - - 95 0 0.00 92 21 18.58 TRIM36 0 genome.wustl.edu 37 5 114469750 114469750 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 5 114469750 114469750 G T SNP TRIM36 ENST00000282369 human ensembl 74_37 -1 known missense c.1341 p.S447R 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM36 HGNC ENSG00000152503 tier1 - - 36 0 0.00 18 3 14.29 TSEN34 0 genome.wustl.edu 37 19 54695405 54695405 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 19 54695405 54695405 G C SNP TSEN34 ENST00000429671 human ensembl 74_37 +1 known missense c.190 p.G64R 0.996 pirsf_tRNA_splic_SEN34 pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN34,tigrfam_tRNA_splic - no_errors TSEN34 HGNC ENSG00000170892 tier1 - - 19 0 0.00 11 12 52.17 TTC39B 0 genome.wustl.edu 37 9 15175077 15175077 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 9 15175077 15175077 G A SNP TTC39B ENST00000512701 human ensembl 74_37 -1 known missense c.1898 p.A633V 0.998 smart_TPR_repeat pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39B HGNC ENSG00000155158 tier1 - - 41 0 0.00 17 27 61.36 TTLL5 0 genome.wustl.edu 37 14 76173979 76173979 + Silent SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 14 76173979 76173979 C T SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known silent c.669 p.D223 0.907 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 tier1 - - 40 0 0.00 7 10 58.82 TTN 0 genome.wustl.edu 37 2 179458716 179458716 + Silent SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 179458716 179458716 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.50700 p.R16900 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,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 - - 53 0 0.00 36 21 36.84 TTN 0 genome.wustl.edu 37 2 179545834 179545834 + Missense_Mutation SNP T T G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 179545834 179545834 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.29580 p.K9860N 1.000 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 73 0 0.00 49 16 24.62 TUBA3C 0 genome.wustl.edu 37 13 19751406 19751406 + Silent SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 13 19751406 19751406 C T SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known silent c.717 p.T239 0.989 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 tier1 - - 148 0 0.00 111 46 29.30 TWIST2 0 genome.wustl.edu 37 2 239757202 239757202 + Missense_Mutation SNP T T G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 239757202 239757202 T G SNP TWIST2 ENST00000448943 human ensembl 74_37 +1 known missense c.346 p.F116V 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TWIST2 HGNC ENSG00000233608 28 0 0.00 19 4 17.39 UBQLNL 0 genome.wustl.edu 37 11 5537601 5537601 + Missense_Mutation SNP T T A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 5537601 5537601 T A SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative missense c.71 p.K24I 0.000 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 tier1 - - 47 0 0.00 28 11 28.21 UCA1 0 genome.wustl.edu 37 19 15940098 15940098 + RNA SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 19 15940098 15940098 A C SNP UCA1 ENST00000397381 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors UCA1 HGNC ENSG00000214049 tier1 - - 53 0 0.00 26 28 51.85 USH2A 0 genome.wustl.edu 37 1 216462679 216462679 + Nonsense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 216462679 216462679 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known nonsense c.1914 p.C638* 1.000 smart_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 - - 65 0 0.00 69 4 5.48 USP17L2 0 genome.wustl.edu 37 8 11994772 11994772 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 8 11994772 11994772 C T SNP USP17L2 ENST00000333796 human ensembl 74_37 -1 known missense c.1498 p.V500M 0.000 NULL pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L2 HGNC ENSG00000223443 tier1 rs199889083 - 122 0 0.00 33 63 65.62 USP31 0 genome.wustl.edu 37 16 23080011 23080011 + Missense_Mutation SNP T T A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 16 23080011 23080011 T A SNP USP31 ENST00000219689 human ensembl 74_37 -1 known missense c.3415 p.R1139W 0.970 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 57 0 0.00 41 3 6.82 USP5 0 genome.wustl.edu 37 12 6968681 6968681 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 12 6968681 6968681 C T SNP USP5 ENST00000229268 human ensembl 74_37 +1 known missense c.1106 p.P369L 1.000 pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP5 HGNC ENSG00000111667 tier1 - - 61 0 0.00 47 4 7.84 USP53 0 genome.wustl.edu 37 4 120192515 120192515 + Silent SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 4 120192515 120192515 A G SNP USP53 ENST00000274030 human ensembl 74_37 +1 known silent c.1500 p.K500 0.009 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP53 HGNC ENSG00000145390 tier1 - - 35 0 0.00 29 8 21.62 USP9Y 0 genome.wustl.edu 37 Y 14951885 14951885 + Silent SNP A A C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce Y 14951885 14951885 A C SNP USP9Y ENST00000338981 human ensembl 74_37 +1 known silent c.5433 p.A1811 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67 - no_errors USP9Y HGNC ENSG00000114374 tier1 - - 75 0 0.00 45 4 8.16 UTP20 0 genome.wustl.edu 37 12 101777368 101777368 + Silent SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 12 101777368 101777368 G C SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known silent c.7977 p.G2659 0.000 NULL pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 tier1 - - 54 0 0.00 16 26 61.90 UTY 0 genome.wustl.edu 37 Y 15582100 15582100 + Missense_Mutation SNP A A T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce Y 15582100 15582100 A T SNP UTY ENST00000382896 human ensembl 74_37 -1 known missense c.226 p.C76S 1.000 NULL pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UTY HGNC ENSG00000183878 tier1 - - 36 0 0.00 1 18 94.74 VASN 0 genome.wustl.edu 37 16 4432883 4432883 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 16 4432883 4432883 G A SNP VASN ENST00000304735 human ensembl 74_37 +1 known missense c.2005 p.A669T 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors VASN HGNC ENSG00000168140 tier1 - - 76 0 0.00 54 4 6.90 VPS18 0 genome.wustl.edu 37 15 41195198 41195198 + Missense_Mutation SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 15 41195198 41195198 C A SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known missense c.2581 p.L861I 1.000 NULL pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 tier1 - - 81 0 0.00 63 4 5.97 VPS51 0 genome.wustl.edu 37 11 64876183 64876183 + Missense_Mutation SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 11 64876183 64876183 C G SNP VPS51 ENST00000279281 human ensembl 74_37 +1 known missense c.1240 p.L414V 1.000 NULL pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC ENSG00000149823 tier1 - - 15 0 0.00 17 6 26.09 VSTM2A 0 genome.wustl.edu 37 7 54617774 54617774 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 7 54617774 54617774 G A SNP VSTM2A ENST00000402026 human ensembl 74_37 +1 known missense c.542 p.S181N 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2A HGNC ENSG00000170419 tier1 - - 64 0 0.00 40 4 9.09 VTA1 0 genome.wustl.edu 37 6 142539707 142539707 + Missense_Mutation SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 142539707 142539707 A G SNP VTA1 ENST00000367630 human ensembl 74_37 +1 known missense c.851 p.Q284R 1.000 NULL NULL - no_errors VTA1 HGNC ENSG00000009844 tier1 - - 58 0 0.00 76 4 5.00 WASH3P 0 genome.wustl.edu 37 15 102513202 102513202 + RNA DEL C C - TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 15 102513202 102513202 C 0 DEL WASH3P ENST00000354296 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors WASH3P HGNC ENSG00000185596 9 0 0.00 10 2 16.67 WDHD1 0 genome.wustl.edu 37 14 55434081 55434081 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 14 55434081 55434081 G A SNP WDHD1 ENST00000360586 human ensembl 74_37 -1 known missense c.2095 p.P699S 1.000 NULL pfam_WD40_repeat,pfam_DUF3639,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_box_dom,smart_WD40_repeat,smart_HMG_box_dom,pfscan_HMG_box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDHD1 HGNC ENSG00000198554 tier1 - - 58 0 0.00 34 21 38.18 WDR54 0 genome.wustl.edu 37 2 74649396 74649396 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 2 74649396 74649396 G A SNP WDR54 ENST00000348227 human ensembl 74_37 +1 known missense c.116 p.G39E 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR54 HGNC ENSG00000005448 tier1 - - 31 0 0.00 20 12 37.50 WWP1 0 genome.wustl.edu 37 8 87460711 87460711 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 8 87460711 87460711 G T SNP WWP1 ENST00000265428 human ensembl 74_37 +1 known missense c.2242 p.V748L 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors WWP1 HGNC ENSG00000123124 34 0 0.00 32 2 5.88 XKR8 0 genome.wustl.edu 37 1 28293308 28293308 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 28293308 28293308 G T SNP XKR8 ENST00000373884 human ensembl 74_37 +1 known missense c.785 p.R262L 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR8 HGNC ENSG00000158156 tier1 - - 95 0 0.00 89 5 5.32 ZBTB21 0 genome.wustl.edu 37 21 43411988 43411988 + Missense_Mutation SNP G G T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 21 43411988 43411988 G T SNP ZBTB21 ENST00000310826 human ensembl 74_37 -1 known missense c.2217 p.S739R 0.994 smart_Znf_C2H2-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB21 HGNC ENSG00000173276 tier1 - - 49 0 0.00 50 4 7.41 ZMYM4 0 genome.wustl.edu 37 1 35846959 35846960 + Frame_Shift_Ins INS - - A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 35846959 35846960 - A INS ZMYM4 ENST00000314607 human ensembl 74_37 +1 known frame_shift_ins c.1281_1282 p.P430fs 0.987:1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 tier1 43 0 0.00 29 4 12.12 ZNF292 0 genome.wustl.edu 37 6 87967225 87967225 + Missense_Mutation SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 6 87967225 87967225 A G SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.3878 p.N1293S 0.972 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 tier1 - - 57 0 0.00 15 13 46.43 ZNF536 0 genome.wustl.edu 37 19 30936105 30936105 + Missense_Mutation SNP C C T TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 19 30936105 30936105 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.1636 p.R546C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 44 0 0.00 28 2 6.67 ZNF660 0 genome.wustl.edu 37 3 44636561 44636561 + Missense_Mutation SNP C C A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 3 44636561 44636561 C A SNP ZNF660 ENST00000322734 human ensembl 74_37 +1 known missense c.876 p.H292Q 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF660 HGNC ENSG00000144792 39 0 0.00 40 3 6.98 ZNF670 0 genome.wustl.edu 37 1 247200821 247200821 + Missense_Mutation SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 247200821 247200821 C G SNP ZNF670 ENST00000366503 human ensembl 74_37 -1 known missense c.1100 p.C367S 0.696 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 ZNF670 HGNC ENSG00000135747 tier1 - - 100 0 0.00 54 22 28.95 ZNF720 0 genome.wustl.edu 37 16 31766026 31766026 + Missense_Mutation SNP G G C TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 16 31766026 31766026 G C SNP ZNF720 ENST00000399681 human ensembl 74_37 +1 known missense c.414 p.K138N 0.383 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF720 HGNC ENSG00000197302 tier1 - - 89 0 0.00 69 23 24.73 ZNF738 0 genome.wustl.edu 37 19 21558723 21558723 + Missense_Mutation SNP T T A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 19 21558723 21558723 T A SNP ZNF738 ENST00000597810 human ensembl 74_37 +1 putative missense c.276 p.D92E 0.863 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF738 HGNC ENSG00000172687 tier1 - - 88 0 0.00 62 25 28.74 ZNF837 0 genome.wustl.edu 37 19 58880489 58880489 + Missense_Mutation SNP C C G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 19 58880489 58880489 C G SNP ZNF837 ENST00000427624 human ensembl 74_37 -1 known missense c.211 p.G71R 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF837 HGNC ENSG00000152475 tier1 - - 18 0 0.00 11 6 33.33 ZNF853 0 genome.wustl.edu 37 7 6662398 6662398 + Silent SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 7 6662398 6662398 G A SNP ZNF853 ENST00000457543 human ensembl 74_37 +1 known silent c.1776 p.S592 0.995 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF853 HGNC ENSG00000236609 tier1 - - 46 0 0.00 45 17 27.42 ZSCAN20 0 genome.wustl.edu 37 1 33959192 33959192 + Missense_Mutation SNP T T G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 189b15ae-53a6-40c5-b334-157f0b896a3b 9125397b-fddd-47bb-b4c0-6c9007d878ce 1 33959192 33959192 T G SNP ZSCAN20 ENST00000361328 human ensembl 74_37 +1 known missense c.1850 p.L617W 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 tier1 - - 21 0 0.00 14 4 22.22