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 ABCA4 0 genome.wustl.edu 37 1 94497396 94497396 + Nonsense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 94497396 94497396 G A SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known nonsense c.4066 p.Q1356* 0.923 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 110 0 0.00 45 3 6.25 ABHD17A 0 genome.wustl.edu 37 19 1881527 1881527 + Frame_Shift_Del DEL G G - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 19 1881527 1881527 G - DEL ABHD17A ENST00000250974 human ensembl 74_37 -1 known frame_shift_del c.39 p.C14fs 1.000 NULL pfam_Dienelactn_hydro - no_errors ABHD17A HGNC ENSG00000129968 tier1 34 0 0.00 20 4 16.67 ABHD17A 0 genome.wustl.edu 37 19 1881529 1881530 + Frame_Shift_Del DEL AG AG - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 19 1881529 1881530 AG - DEL ABHD17A ENST00000250974 human ensembl 74_37 -1 known frame_shift_del c.37_36 p.F13fs 1.000:0.997 NULL pfam_Dienelactn_hydro - no_errors ABHD17A HGNC ENSG00000129968 tier1 32 0 0.00 20 4 16.67 ACO1 0 genome.wustl.edu 37 9 32433728 32433729 + Frame_Shift_Del DEL TG TG - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 9 32433728 32433729 TG - DEL ACO1 ENST00000309951 human ensembl 74_37 +1 known frame_shift_del c.1854_1855 p.V619fs 0.998:1.000 superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 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/Fe_reg_prot_2 - no_errors ACO1 HGNC ENSG00000122729 tier1 54 0 0.00 30 22 42.31 ACSM5 0 genome.wustl.edu 37 16 20432632 20432632 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 16 20432632 20432632 G T SNP ACSM5 ENST00000331849 human ensembl 74_37 +1 known missense c.676 p.A226S 0.195 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ENSG00000183549 72 0 0.00 31 6 16.22 ADAM30 0 genome.wustl.edu 37 1 120438560 120438560 + Silent SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 120438560 120438560 G T SNP ADAM30 ENST00000369400 human ensembl 74_37 -1 known silent c.400 p.R134 0.882 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM30 HGNC ENSG00000134249 tier1 - - 62 0 0.00 41 12 22.64 ADHFE1 0 genome.wustl.edu 37 8 67356721 67356721 + RNA SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 8 67356721 67356721 A G SNP ADHFE1 ENST00000518781 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADHFE1 HGNC ENSG00000147576 tier1 - - 34 0 0.00 19 5 20.83 ADORA2A 0 genome.wustl.edu 37 22 24836564 24836564 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 22 24836564 24836564 G T SNP ADORA2A ENST00000337539 human ensembl 74_37 +1 known missense c.346 p.V116L 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_Adeno_A2A_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt - no_errors ADORA2A HGNC ENSG00000128271 120 0 0.00 61 4 6.15 AFF3 0 genome.wustl.edu 37 2 100218011 100218013 + In_Frame_Del DEL GCT GCT - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 100218011 100218013 GCT - DEL AFF3 ENST00000356421 human ensembl 74_37 -1 known in_frame_del c.1332_1330 p.S444in_frame_del 1.000:1.000:1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 tier1 44 0 0.00 28 5 15.15 ANKH 0 genome.wustl.edu 37 5 14769157 14769157 + Missense_Mutation SNP C C G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 5 14769157 14769157 C G SNP ANKH ENST00000284268 human ensembl 74_37 -1 known missense c.240 p.K80N 1.000 pfam_ANKH pfam_ANKH - no_errors ANKH HGNC ENSG00000154122 tier1 - - 70 0 0.00 53 12 18.46 ANKRD18DP 0 genome.wustl.edu 37 3 197807315 197807315 + RNA SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 3 197807315 197807315 G T SNP ANKRD18DP ENST00000335478 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD18DP HGNC ENSG00000226435 tier1 - - 40 0 0.00 38 5 11.63 ANKS3 0 genome.wustl.edu 37 16 4749098 4749098 + Missense_Mutation SNP A A T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 16 4749098 4749098 A T SNP ANKS3 ENST00000304283 human ensembl 74_37 -1 known missense c.1364 p.I455N 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS3 HGNC ENSG00000168096 tier1 - - 59 0 0.00 27 4 12.90 AP3S1 0 genome.wustl.edu 37 5 115177406 115177406 + RNA SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 5 115177406 115177406 C T SNP AP3S1 ENST00000514118 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AP3S1 HGNC ENSG00000177879 tier1 - - 53 0 0.00 6 11 64.71 ARHGEF6 0 genome.wustl.edu 37 X 135772773 135772773 + Missense_Mutation SNP A A T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 X 135772773 135772773 A T SNP ARHGEF6 ENST00000250617 human ensembl 74_37 -1 known missense c.1181 p.M394K 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ENSG00000129675 tier1 - - 65 0 0.00 47 4 7.84 ASB8 0 genome.wustl.edu 37 12 48543223 48543223 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 12 48543223 48543223 G T SNP ASB8 ENST00000317697 human ensembl 74_37 -1 known missense c.793 p.Q265K 1.000 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB8 HGNC ENSG00000177981 56 0 0.00 36 3 7.69 ATP6V1H 0 genome.wustl.edu 37 8 54730058 54730058 + Missense_Mutation SNP G G C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 8 54730058 54730058 G C SNP ATP6V1H ENST00000359530 human ensembl 74_37 -1 known missense c.339 p.D113E 0.993 pfam_ATPase_V1-cplx_hsu,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu pfam_ATPase_V1-cplx_hsu,pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu - no_errors ATP6V1H HGNC ENSG00000047249 tier1 - - 67 0 0.00 42 20 32.26 ATR 0 genome.wustl.edu 37 3 142266582 142266583 + Frame_Shift_Ins INS - - A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 3 142266582 142266583 - A INS ATR ENST00000350721 human ensembl 74_37 -1 known frame_shift_ins c.3342_3341 p.S1115fs 0.965:0.999 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 tier1 104 0 0.00 73 28 27.72 ATXN7 0 genome.wustl.edu 37 3 63898361 63898363 + In_Frame_Del DEL GCA GCA - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 3 63898361 63898363 GCA - DEL ATXN7 ENST00000398590 human ensembl 74_37 +1 known in_frame_del c.87_89 p.Q33in_frame_del 1.000:1.000:1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 tier1 20 0 0.00 3 2 40.00 BIRC6 0 genome.wustl.edu 37 2 32819095 32819095 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 32819095 32819095 C T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.13469 p.A4490V 0.937 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 59 0 0.00 38 4 9.52 BPIFA2 0 genome.wustl.edu 37 20 31756970 31756970 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 20 31756970 31756970 C T SNP BPIFA2 ENST00000253362 human ensembl 74_37 +1 known missense c.19 p.L7F 0.986 NULL pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA2 HGNC ENSG00000131050 tier1 - - 49 0 0.00 38 10 20.83 BRD2 0 genome.wustl.edu 37 6 32939543 32939543 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 6 32939543 32939543 G T SNP BRD2 ENST00000496118 human ensembl 74_37 +1 putative missense c.279 p.Q93H 0.000 NULL NULL - no_errors BRD2 HGNC ENSG00000204256 tier1 - - 113 0 0.00 41 4 8.89 C12orf36 0 genome.wustl.edu 37 12 13529163 13529163 + Silent SNP C C A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 12 13529163 13529163 C A SNP C12orf36 ENST00000318426 human ensembl 74_37 -1 known silent c.177 p.L59 0.000 NULL NULL - no_errors C12orf36 HGNC ENSG00000180861 tier1 - - 107 0 0.00 52 26 33.33 C15orf27 0 genome.wustl.edu 37 15 76449047 76449047 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 15 76449047 76449047 G T SNP C15orf27 ENST00000388942 human ensembl 74_37 +1 known missense c.330 p.L110F 1.000 NULL NULL - no_errors C15orf27 HGNC ENSG00000169758 tier1 - - 127 0 0.00 72 4 5.26 C20orf112 0 genome.wustl.edu 37 20 31172603 31172603 + RNA SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 20 31172603 31172603 C T SNP C20orf112 ENST00000485364 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors C20orf112 HGNC ENSG00000197183 tier1 - - 41 0 0.00 21 4 16.00 C7 0 genome.wustl.edu 37 5 40934566 40934566 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 5 40934566 40934566 C T SNP C7 ENST00000313164 human ensembl 74_37 +1 known missense c.278 p.S93L 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_MAC_perforin 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 - - 124 0 0.00 82 14 14.58 CACNA1A 0 genome.wustl.edu 37 19 13470592 13470592 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 19 13470592 13470592 G T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.806 p.P269Q 0.971 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 81 0 0.00 53 3 5.36 CACNA1C 0 genome.wustl.edu 37 12 2659819 2659819 + RNA SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 12 2659819 2659819 A G SNP CACNA1C ENST00000491104 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors CACNA1C HGNC ENSG00000151067 tier1 - - 101 0 0.00 66 4 5.71 CACNA1E 0 genome.wustl.edu 37 1 181765953 181765953 + Missense_Mutation SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 181765953 181765953 A G SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.6358 p.R2120G 0.999 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 42 0 0.00 48 4 7.69 CAMKMT 0 genome.wustl.edu 37 2 44993623 44993623 + Missense_Mutation SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 44993623 44993623 A G SNP CAMKMT ENST00000378494 human ensembl 74_37 +1 known missense c.817 p.N273D 1.000 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors CAMKMT HGNC ENSG00000143919 tier1 - - 89 0 0.00 39 5 11.36 CAMTA1 0 genome.wustl.edu 37 1 7798315 7798315 + Nonsense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 7798315 7798315 G T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known nonsense c.3955 p.G1319* 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 tier1 - - 22 0 0.00 9 3 25.00 CAMTA2 0 genome.wustl.edu 37 17 4885088 4885088 + Silent SNP T T A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 17 4885088 4885088 T A SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known silent c.519 p.P173 0.990 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 tier1 - - 40 0 0.00 33 4 10.81 CBX5 0 genome.wustl.edu 37 12 54645841 54645841 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 12 54645841 54645841 G A SNP CBX5 ENST00000209875 human ensembl 74_37 -1 known missense c.308 p.S103F 0.997 NULL pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX5 HGNC ENSG00000094916 31 0 0.00 31 2 6.06 CCDC141 0 genome.wustl.edu 37 2 179702195 179702195 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 179702195 179702195 C T SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known missense c.3751 p.V1251M 0.003 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 tier1 - - 38 0 0.00 17 4 19.05 CD1A 0 genome.wustl.edu 37 1 158225961 158225961 + Missense_Mutation SNP C C A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 158225961 158225961 C A SNP CD1A ENST00000289429 human ensembl 74_37 +1 known missense c.493 p.L165I 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1A HGNC ENSG00000158477 tier1 - - 56 0 0.00 28 16 36.36 CDC14B 0 genome.wustl.edu 37 9 99296415 99296415 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 9 99296415 99296415 G T SNP CDC14B ENST00000375241 human ensembl 74_37 -1 known missense c.740 p.T247N 1.000 smart_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14B HGNC ENSG00000081377 tier1 - - 57 0 0.00 13 30 69.77 CDCA8 0 genome.wustl.edu 37 1 38164611 38164611 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 38164611 38164611 C T SNP CDCA8 ENST00000327331 human ensembl 74_37 +1 known missense c.299 p.T100I 1.000 NULL pfam_Cell_div_borealin,pfam_Borealin-like_N - no_errors CDCA8 HGNC ENSG00000134690 tier1 - - 63 0 0.00 49 4 7.55 CDH11 0 genome.wustl.edu 37 16 65038654 65038654 + Missense_Mutation SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 16 65038654 65038654 T C SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.119 p.E40G 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 71 0 0.00 27 5 15.62 CDH26 0 genome.wustl.edu 37 20 58564206 58564206 + Missense_Mutation SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 20 58564206 58564206 A G SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known missense c.1271 p.D424G 0.837 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 tier1 - - 110 0 0.00 69 4 5.48 CELF4 0 genome.wustl.edu 37 18 34850767 34850767 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 18 34850767 34850767 C T SNP CELF4 ENST00000420428 human ensembl 74_37 -1 known missense c.1063 p.E355K 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 tier1 - - 84 0 0.00 27 12 30.77 CHD1 0 genome.wustl.edu 37 5 98204234 98204234 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 5 98204234 98204234 C T SNP CHD1 ENST00000284049 human ensembl 74_37 -1 known missense c.4213 p.E1405K 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 tier1 - - 87 0 0.00 28 9 23.68 CHKB-CPT1B 0 genome.wustl.edu 37 22 51016363 51016363 + RNA SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 22 51016363 51016363 C T SNP CHKB-CPT1B ENST00000452668 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CHKB-CPT1B HGNC ENSG00000254413 tier1 - - 43 0 0.00 24 5 17.24 CHUK 0 genome.wustl.edu 37 10 101953779 101953779 + Frame_Shift_Del DEL T T - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 10 101953779 101953779 T 0 DEL CHUK ENST00000370397 human ensembl 74_37 -1 known frame_shift_del c.1936 p.R646fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors CHUK HGNC ENSG00000213341 109 0 0.00 67 7 9.46 CLDN8 0 genome.wustl.edu 37 21 31587980 31587980 + Silent SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 21 31587980 31587980 G T SNP CLDN8 ENST00000286809 human ensembl 74_37 -1 known silent c.264 p.S88 0.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8,prints_Claudin14 - no_errors CLDN8 HGNC ENSG00000156284 tier1 - - 103 0 0.00 50 4 7.41 CLPX 0 genome.wustl.edu 37 15 65471357 65471357 + Silent SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 15 65471357 65471357 T C SNP CLPX ENST00000300107 human ensembl 74_37 -1 known silent c.273 p.S91 0.994 NULL pfam_ATPase_AAA-2,pfam_Clp_ATPase_C,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX - no_errors CLPX HGNC ENSG00000166855 tier1 - - 97 0 0.00 62 4 6.06 CNR1 0 genome.wustl.edu 37 6 88854404 88854404 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 6 88854404 88854404 G A SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known missense c.590 p.T197M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 tier1 - - 37 0 0.00 15 5 25.00 COL27A1 0 genome.wustl.edu 37 9 116931688 116931688 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 9 116931688 116931688 C T SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.1853 p.T618M 0.991 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 tier1 rs141872540 - 80 0 0.00 29 8 21.62 CPNE1 0 genome.wustl.edu 37 20 34215317 34215317 + Missense_Mutation SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 20 34215317 34215317 T C SNP CPNE1 ENST00000317677 human ensembl 74_37 -1 known missense c.1136 p.D379G 1.000 pfam_Copine,smart_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE1 HGNC ENSG00000214078 tier1 - - 53 0 0.00 57 4 6.56 CPSF2 0 genome.wustl.edu 37 14 92600367 92600367 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 14 92600367 92600367 G T SNP CPSF2 ENST00000298875 human ensembl 74_37 +1 known missense c.162 p.Q54H 1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors CPSF2 HGNC ENSG00000165934 50 0 0.00 22 2 8.33 CPT1B 0 genome.wustl.edu 37 22 51009414 51009414 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 22 51009414 51009414 C T SNP CPT1B ENST00000312108 human ensembl 74_37 -1 known missense c.1934 p.R645H 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 tier1 - - 100 0 0.00 47 20 29.41 CSF1R 0 genome.wustl.edu 37 5 149433732 149433734 + In_Frame_Del DEL CTG CTG - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 5 149433732 149433734 CTG - DEL CSF1R ENST00000286301 human ensembl 74_37 -1 known in_frame_del c.2819_2817 p.S940in_frame_del 0.996:1.000:1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 tier1 38 0 0.00 10 2 16.67 CSMD2 0 genome.wustl.edu 37 1 34024948 34024948 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 34024948 34024948 G T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.8506 p.Q2836K 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 107 0 0.00 39 12 23.08 CYB5D1 0 genome.wustl.edu 37 17 7762030 7762031 + Frame_Shift_Ins INS - - T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 17 7762030 7762031 - T INS CYB5D1 ENST00000332439 human ensembl 74_37 +1 known frame_shift_ins c.344_345 p.G117fs 1.000:1.000 NULL pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors CYB5D1 HGNC ENSG00000182224 tier1 93 0 0.00 26 3 10.34 CYP2D6 0 genome.wustl.edu 37 22 42522969 42522969 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 22 42522969 42522969 G A SNP CYP2D6 ENST00000360608 human ensembl 74_37 -1 known missense c.1199 p.S400L 0.999 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2D6 HGNC ENSG00000100197 tier1 - - 78 0 0.00 29 9 23.68 DAP3 0 genome.wustl.edu 37 1 155707999 155708000 + Frame_Shift_Ins INS - - CT TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 155707999 155708000 - CT INS DAP3 ENST00000343043 human ensembl 74_37 +1 known frame_shift_ins c.1163_1164 p.L390fs 0.997:0.107 pfam_Ribosomal_S23/S29_mit,superfamily_P-loop_NTPase pfam_Ribosomal_S23/S29_mit,superfamily_P-loop_NTPase,prints_Ribosomal_S29_mit - no_errors DAP3 HGNC ENSG00000132676 tier1 74 0 0.00 34 16 32.00 DDI1 0 genome.wustl.edu 37 11 103908556 103908556 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 11 103908556 103908556 C T SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known missense c.1006 p.R336W 1.000 pfam_Peptidase_aspartic_DDI1-type,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 53 0 0.00 31 2 6.06 DDX11 0 genome.wustl.edu 37 12 31256769 31256769 + Silent SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 12 31256769 31256769 G A SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known silent c.2715 p.L905 0.259 NULL pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 tier1 - - 84 0 0.00 67 4 5.63 DEK 0 genome.wustl.edu 37 6 18264079 18264081 + In_Frame_Del DEL TCC TCC - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 6 18264079 18264081 TCC - DEL DEK ENST00000397239 human ensembl 74_37 -1 known in_frame_del c.140_138 p.E47in_frame_del 0.991:0.975:0.803 NULL pfam_DEK_C,pfam_SAP_dom,smart_SAP_dom - no_errors DEK HGNC ENSG00000124795 tier1 56 0 0.00 17 3 15.00 DGKI 0 genome.wustl.edu 37 7 137269972 137269972 + Nonsense_Mutation SNP C C A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 7 137269972 137269972 C A SNP DGKI ENST00000288490 human ensembl 74_37 -1 known nonsense c.1546 p.E516* 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 134 0 0.00 76 4 5.00 DHX15 0 genome.wustl.edu 37 4 24543614 24543614 + Missense_Mutation SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 4 24543614 24543614 A G SNP DHX15 ENST00000336812 human ensembl 74_37 -1 known missense c.1367 p.L456P 0.999 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX15 HGNC ENSG00000109606 98 0 0.00 43 3 6.52 DKK1 0 genome.wustl.edu 37 10 54074703 54074703 + Silent SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 10 54074703 54074703 C T SNP DKK1 ENST00000373970 human ensembl 74_37 +1 known silent c.264 p.D88 0.966 pfam_Dickkopf_N pfam_Dickkopf_N - no_errors DKK1 HGNC ENSG00000107984 tier1 - - 110 0 0.00 58 4 6.45 DLX4 0 genome.wustl.edu 37 17 48050491 48050491 + Missense_Mutation SNP C C A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 17 48050491 48050491 C A SNP DLX4 ENST00000240306 human ensembl 74_37 +1 known missense c.338 p.P113H 0.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors DLX4 HGNC ENSG00000108813 tier1 - - 136 0 0.00 50 29 36.71 DNAI2 0 genome.wustl.edu 37 17 72278122 72278122 + Missense_Mutation SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 17 72278122 72278122 A G SNP DNAI2 ENST00000311014 human ensembl 74_37 +1 known missense c.166 p.S56G 0.902 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 tier1 - - 69 0 0.00 47 4 7.84 DNAJC11 0 genome.wustl.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 6727803 6727804 TC - DEL DNAJC11 ENST00000377577 human ensembl 74_37 -1 known frame_shift_del c.344_343 p.E115fs 1.000:1.000 NULL pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC11 HGNC ENSG00000007923 tier1 45 0 0.00 23 2 8.00 DNAJC17 0 genome.wustl.edu 37 15 41071496 41071496 + Missense_Mutation SNP T T G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 15 41071496 41071496 T G SNP DNAJC17 ENST00000220496 human ensembl 74_37 -1 known missense c.220 p.K74Q 1.000 superfamily_DnaJ_domain,pfscan_DnaJ_domain pfam_DnaJ_domain,pfam_RRM_dom,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC17 HGNC ENSG00000104129 tier1 - - 64 0 0.00 23 11 32.35 DNM1P46 0 genome.wustl.edu 37 15 100340242 100340242 + RNA SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 15 100340242 100340242 T C SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.950 - - - no_errors DNM1P46 HGNC ENSG00000182397 109 0 0.00 50 5 9.09 DSCAML1 0 genome.wustl.edu 37 11 117329510 117329510 + Silent SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 11 117329510 117329510 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.3708 p.G1236 0.256 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 55 0 0.00 23 2 8.00 DSCR4 0 genome.wustl.edu 37 21 39325305 39325305 + Missense_Mutation SNP C C A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 21 39325305 39325305 C A SNP DSCR4 ENST00000398948 human ensembl 74_37 -1 putative missense c.234 p.R78S 0.000 NULL NULL - no_errors DSCR4 HGNC ENSG00000184029 tier1 - - 60 0 0.00 11 19 63.33 EEF2K 0 genome.wustl.edu 37 16 22262558 22262558 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 16 22262558 22262558 G T SNP EEF2K ENST00000263026 human ensembl 74_37 +1 known missense c.533 p.R178L 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 77 0 0.00 39 3 7.14 EIF2AK1 0 genome.wustl.edu 37 7 6066405 6066406 + Frame_Shift_Ins INS - - AT TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 7 6066405 6066406 - AT INS EIF2AK1 ENST00000199389 human ensembl 74_37 -1 known frame_shift_ins c.1718_1717 p.S573fs 1.000:0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK1 HGNC ENSG00000086232 tier1 63 0 0.00 35 23 39.66 ELMO2 0 genome.wustl.edu 37 20 45014797 45014797 + Missense_Mutation SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 20 45014797 45014797 T C SNP ELMO2 ENST00000439931 human ensembl 74_37 -1 known missense c.643 p.I215V 1.000 pfam_DUF3361,superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ENSG00000062598 tier1 rs113022678 - 48 0 0.00 18 11 37.93 ENPP5 0 genome.wustl.edu 37 6 46135853 46135853 + Silent SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 6 46135853 46135853 G T SNP ENPP5 ENST00000230565 human ensembl 74_37 -1 known silent c.147 p.P49 0.994 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP5 HGNC ENSG00000112796 tier1 - - 142 0 0.00 62 4 5.97 ENSG00000224631 0 genome.wustl.edu 37 16 61089511 61089511 + RNA SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 16 61089511 61089511 C T SNP ENSG00000224631 ENST00000591758 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors RP11-51O6.1 Clone_based_vega_gene ENSG00000224631 tier1 - - 41 0 0.00 20 13 39.39 ENSG00000231412 0 genome.wustl.edu 37 19 43835579 43835579 + RNA SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 19 43835579 43835579 T C SNP ENSG00000231412 ENST00000595748 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-490G23.2 Clone_based_vega_gene ENSG00000231412 tier1 - - 31 0 0.00 19 4 17.39 ENSG00000234277 0 genome.wustl.edu 37 1 227618722 227618722 + RNA DEL A A - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 227618722 227618722 A - DEL ENSG00000234277 ENST00000445817 human ensembl 74_37 +1 known rna NULL NULL 0.163 - - - no_errors CTD-2090I13.1 Clone_based_vega_gene ENSG00000234277 tier1 18 0 0.00 19 4 17.39 ENSG00000243008 0 genome.wustl.edu 37 13 25155856 25155856 + RNA SNP C C A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 13 25155856 25155856 C A SNP ENSG00000243008 ENST00000453498 human ensembl 74_37 +1 known rna NULL NULL 0.596 - - - no_errors RP11-556N21.1 Clone_based_vega_gene ENSG00000243008 tier1 - - 195 0 0.00 82 11 11.70 ENSG00000255487 0 genome.wustl.edu 37 8 38134040 38134040 + RNA SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 8 38134040 38134040 T C SNP ENSG00000255487 ENST00000529325 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-513D5.5 Clone_based_vega_gene ENSG00000255487 tier1 - - 34 0 0.00 30 14 31.82 ERCC6 0 genome.wustl.edu 37 10 50678883 50678883 + Silent SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 10 50678883 50678883 T C SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known silent c.3123 p.Q1041 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 tier1 - - 105 0 0.00 70 4 5.41 ESPNP 0 genome.wustl.edu 37 1 17026043 17026044 + RNA INS - - GCA TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 17026043 17026044 0 GCA INS ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 0.970:0.965 - - - no_errors ESPNP HGNC ENSG00000268869 17 0 0.00 7 2 22.22 EXOC6B 0 genome.wustl.edu 37 2 72945384 72945384 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 72945384 72945384 G T SNP EXOC6B ENST00000272427 human ensembl 74_37 -1 known missense c.517 p.Q173K 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6B HGNC ENSG00000144036 tier1 - - 69 0 0.00 57 4 6.56 FAM135A 0 genome.wustl.edu 37 6 71186910 71186910 + Missense_Mutation SNP G G C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 6 71186910 71186910 G C SNP FAM135A ENST00000418814 human ensembl 74_37 +1 known missense c.417 p.K139N 1.000 pfam_DUF3657 pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 tier1 - - 81 0 0.00 33 13 28.26 FBXW5 0 genome.wustl.edu 37 9 139835770 139835770 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 9 139835770 139835770 G A SNP FBXW5 ENST00000325285 human ensembl 74_37 -1 known missense c.1390 p.R464C 1.000 superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW5 HGNC ENSG00000159069 tier1 - - 82 0 0.00 20 15 42.86 FBXW7 0 genome.wustl.edu 37 4 153253853 153253853 + Missense_Mutation SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 4 153253853 153253853 A G SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.880 p.S294P 1.000 pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom 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 75 0 0.00 37 2 5.13 FGFR2 0 genome.wustl.edu 37 10 123245035 123245035 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 10 123245035 123245035 C T SNP FGFR2 ENST00000457416 human ensembl 74_37 -1 known missense c.2072 p.G691E 1.000 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR2 HGNC ENSG00000066468 94 0 0.00 56 3 5.08 FLG 0 genome.wustl.edu 37 1 152281918 152281918 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 152281918 152281918 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.5444 p.G1815E 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 212 0 0.00 133 10 6.94 FLYWCH2 0 genome.wustl.edu 37 16 2949264 2949264 + RNA DEL C C - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 16 2949264 2949264 C - DEL FLYWCH2 ENST00000572786 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors FLYWCH2 HGNC ENSG00000162076 tier1 46 0 0.00 19 3 13.64 FPR1 0 genome.wustl.edu 37 19 52249357 52249357 + Missense_Mutation SNP G G C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 19 52249357 52249357 G C SNP FPR1 ENST00000304748 human ensembl 74_37 -1 known missense c.891 p.N297K 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR1 HGNC ENSG00000171051 tier1 - - 65 0 0.00 36 5 12.20 FRAS1 0 genome.wustl.edu 37 4 79343066 79343066 + Silent SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 4 79343066 79343066 G T SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known silent c.4590 p.T1530 0.010 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 60 0 0.00 28 2 6.67 GABPA 0 genome.wustl.edu 37 21 27117646 27117646 + Missense_Mutation SNP T T A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 21 27117646 27117646 T A SNP GABPA ENST00000354828 human ensembl 74_37 +1 known missense c.203 p.I68N 1.000 pfam_GABP_asu_N,pirsf_TF_GA-bd_asu pfam_GABP_asu_N,pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_TF_GA-bd_asu,pfscan_Ets_dom,prints_Ets_dom - no_errors GABPA HGNC ENSG00000154727 81 0 0.00 32 4 11.11 GALNT15 0 genome.wustl.edu 37 3 16237381 16237381 + Silent SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 3 16237381 16237381 G T SNP GALNT15 ENST00000339732 human ensembl 74_37 +1 known silent c.654 p.V218 0.180 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT15 HGNC ENSG00000131386 tier1 - - 62 0 0.00 22 3 12.00 GAS1 0 genome.wustl.edu 37 9 89561648 89561648 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 9 89561648 89561648 G T SNP GAS1 ENST00000298743 human ensembl 74_37 -1 known missense c.47 p.T16K 0.140 NULL pfam_GDNF/GAS1,smart_GDNF/GAS1 - no_errors GAS1 HGNC ENSG00000180447 tier1 - - 54 0 0.00 36 6 14.29 GLRB 0 genome.wustl.edu 37 4 158065089 158065089 + Silent SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 4 158065089 158065089 G A SNP GLRB ENST00000264428 human ensembl 74_37 +1 known silent c.882 p.A294 0.101 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC ENSG00000109738 81 0 0.00 35 2 5.41 GNPAT 0 genome.wustl.edu 37 1 231403505 231403505 + Missense_Mutation SNP G G C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 231403505 231403505 G C SNP GNPAT ENST00000366647 human ensembl 74_37 +1 known missense c.1135 p.E379Q 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GNPAT HGNC ENSG00000116906 tier1 - - 82 0 0.00 39 33 45.83 GNPTAB 0 genome.wustl.edu 37 12 102183823 102183823 + Silent SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 12 102183823 102183823 G A SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known silent c.216 p.P72 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 90 0 0.00 44 4 8.33 GOLGA6D 0 genome.wustl.edu 37 15 75586142 75586142 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 15 75586142 75586142 G A SNP GOLGA6D ENST00000434739 human ensembl 74_37 +1 known missense c.1666 p.V556I 1.000 NULL NULL - no_errors GOLGA6D HGNC ENSG00000140478 tier1 - - 233 0 0.00 128 21 14.09 GP2 0 genome.wustl.edu 37 16 20326021 20326021 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 16 20326021 20326021 C T SNP GP2 ENST00000381362 human ensembl 74_37 -1 known missense c.1513 p.A505T 0.002 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors GP2 HGNC ENSG00000169347 117 0 0.00 65 4 5.80 GPR182 0 genome.wustl.edu 37 12 57390113 57390113 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 12 57390113 57390113 G A SNP GPR182 ENST00000300098 human ensembl 74_37 +1 known missense c.1120 p.A374T 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G10D_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors GPR182 HGNC ENSG00000166856 tier1 - - 68 0 0.00 26 21 44.68 GPR75-ASB3 0 genome.wustl.edu 37 2 53897541 53897541 + RNA SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 53897541 53897541 C T SNP GPR75-ASB3 ENST00000482829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GPR75-ASB3 HGNC ENSG00000115239 tier1 - - 170 0 0.00 119 24 16.78 GPR98 0 genome.wustl.edu 37 5 89975401 89975401 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 5 89975401 89975401 G T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.5479 p.G1827C 1.000 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 134 0 0.00 71 4 5.33 GRIA1 0 genome.wustl.edu 37 5 152870474 152870474 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 5 152870474 152870474 G A SNP GRIA1 ENST00000285900 human ensembl 74_37 +1 known missense c.26 p.C9Y 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 tier1 - - 91 0 0.00 50 5 9.09 GRM2 0 genome.wustl.edu 37 3 51746593 51746593 + Silent SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 3 51746593 51746593 G T SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known silent c.555 p.V185 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 tier1 - - 104 0 0.00 42 4 8.70 GTF3C5 0 genome.wustl.edu 37 9 135917627 135917627 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 9 135917627 135917627 G A SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known missense c.307 p.A103T 0.002 pfam_TF_IIIC_su-5 pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 49 0 0.00 31 2 6.06 HABP2 0 genome.wustl.edu 37 10 115334094 115334094 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 10 115334094 115334094 G T SNP HABP2 ENST00000351270 human ensembl 74_37 +1 known missense c.153 p.Q51H 0.001 NULL pfam_Peptidase_S1,pfam_Kringle,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HABP2 HGNC ENSG00000148702 tier1 - - 121 0 0.00 61 4 6.15 HCAR3 0 genome.wustl.edu 37 12 123200854 123200854 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 12 123200854 123200854 G A SNP HCAR3 ENST00000528880 human ensembl 74_37 -1 known missense c.431 p.A144V 0.071 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors HCAR3 HGNC ENSG00000255398 tier1 - - 76 0 0.00 62 5 7.46 HDHD3 0 genome.wustl.edu 37 9 116136524 116136524 + Silent SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 9 116136524 116136524 C T SNP HDHD3 ENST00000238379 human ensembl 74_37 -1 known silent c.111 p.G37 0.944 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_REG-2-like pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_hydro_IA_REG-2-like,tigrfam_HAD-SF_hydro_IA - no_errors HDHD3 HGNC ENSG00000119431 tier1 - - 74 0 0.00 39 4 9.30 HERC1 0 genome.wustl.edu 37 15 63966633 63966633 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 15 63966633 63966633 C T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.7754 p.G2585E 0.999 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 69 0 0.00 41 20 32.79 HGSNAT 0 genome.wustl.edu 37 8 43052113 43052113 + Missense_Mutation SNP A A T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 8 43052113 43052113 A T SNP HGSNAT ENST00000458501 human ensembl 74_37 +1 known missense c.1571 p.Y524F 1.000 NULL pfam_DUF1624 - no_errors HGSNAT HGNC ENSG00000165102 tier1 - - 130 0 0.00 69 4 5.48 HIST1H2BC 0 genome.wustl.edu 37 6 26124066 26124066 + Nonsense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 6 26124066 26124066 G A SNP HIST1H2BC ENST00000314332 human ensembl 74_37 -1 known nonsense c.67 p.Q23* 0.999 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC ENSG00000180596 113 0 0.00 46 3 6.12 HIST1H4B 0 genome.wustl.edu 37 6 26027418 26027418 + Frame_Shift_Del DEL T T - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 6 26027418 26027418 T - DEL HIST1H4B ENST00000377364 human ensembl 74_37 -1 known frame_shift_del c.63 p.V22fs 1.000 superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4B HGNC ENSG00000124529 tier1 95 0 0.00 35 2 5.41 HM13 0 genome.wustl.edu 37 20 30154016 30154016 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 20 30154016 30154016 G A SNP HM13 ENST00000398174 human ensembl 74_37 +1 known missense c.952 p.A318T 1.000 pfam_Peptidase_A22B_SPP,smart_Preselin/SPP pfam_Peptidase_A22B_SPP,smart_Preselin/SPP - no_errors HM13 HGNC ENSG00000101294 tier1 - - 89 0 0.00 38 22 36.07 HMCN1 0 genome.wustl.edu 37 1 186113436 186113436 + Nonsense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 186113436 186113436 G T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known nonsense c.14056 p.E4686* 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 99 0 0.00 73 10 12.05 HRNR 0 genome.wustl.edu 37 1 152185648 152185648 + Missense_Mutation SNP A A C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 152185648 152185648 A C SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.8457 p.H2819Q 0.003 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 117 0 0.00 77 5 6.10 HSPA9 0 genome.wustl.edu 37 5 137892472 137892472 + Silent SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 5 137892472 137892472 A G SNP HSPA9 ENST00000297185 human ensembl 74_37 -1 known silent c.1812 p.P604 1.000 pfam_Hsp_70_fam,tigrfam_Chaperone_DnaK pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK - no_errors HSPA9 HGNC ENSG00000113013 tier1 - - 87 0 0.00 32 4 11.11 HTR3C 0 genome.wustl.edu 37 3 183776319 183776319 + Missense_Mutation SNP A A C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 3 183776319 183776319 A C SNP HTR3C ENST00000318351 human ensembl 74_37 +1 known missense c.664 p.K222Q 0.876 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3C HGNC ENSG00000178084 tier1 - - 104 0 0.00 89 28 23.93 HTRA1 0 genome.wustl.edu 37 10 124249128 124249128 + Missense_Mutation SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 10 124249128 124249128 A G SNP HTRA1 ENST00000368984 human ensembl 74_37 +1 known missense c.763 p.K255E 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,pfam_IGFBP-like,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA1 HGNC ENSG00000166033 tier1 - - 97 0 0.00 27 16 37.21 IFFO1 0 genome.wustl.edu 37 12 6660125 6660125 + Silent SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 12 6660125 6660125 A G SNP IFFO1 ENST00000356896 human ensembl 74_37 -1 known silent c.816 p.R272 0.989 NULL NULL - no_errors IFFO1 HGNC ENSG00000010295 49 0 0.00 37 3 7.50 INF2 0 genome.wustl.edu 37 14 105172386 105172386 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 14 105172386 105172386 C T SNP INF2 ENST00000392634 human ensembl 74_37 +1 known missense c.716 p.A239V 0.037 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 119 0 0.00 56 5 8.20 INHBB 0 genome.wustl.edu 37 2 121106886 121106886 + Silent SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 121106886 121106886 C T SNP INHBB ENST00000295228 human ensembl 74_37 +1 known silent c.660 p.D220 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC ENSG00000163083 tier1 - - 69 0 0.00 39 16 29.09 IPO5 0 genome.wustl.edu 37 13 98670884 98670884 + Missense_Mutation SNP T T A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 13 98670884 98670884 T A SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.2816 p.V939D 1.000 pfam_HEAT,superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 tier1 - - 126 0 0.00 65 4 5.80 IQCA1 0 genome.wustl.edu 37 2 237272501 237272501 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 237272501 237272501 G T SNP IQCA1 ENST00000409907 human ensembl 74_37 -1 known missense c.1791 p.F597L 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 tier1 - - 115 0 0.00 56 4 6.67 ITGAV 0 genome.wustl.edu 37 2 187529332 187529332 + Silent SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 187529332 187529332 G T SNP ITGAV ENST00000261023 human ensembl 74_37 +1 known silent c.2037 p.L679 0.001 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 112 0 0.00 56 3 5.08 JPH3 0 genome.wustl.edu 37 16 87717865 87717865 + Silent SNP G G C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 16 87717865 87717865 G C SNP JPH3 ENST00000284262 human ensembl 74_37 +1 known silent c.1278 p.R426 0.998 pirsf_Junctophilin pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 98 0 0.00 28 2 6.67 KARS 0 genome.wustl.edu 37 16 75665431 75665431 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 16 75665431 75665431 C T SNP KARS ENST00000319410 human ensembl 74_37 -1 known missense c.1219 p.E407K 1.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Lys-tRNA-ligase_II pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Lys-tRNA-synth_II_C,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Lys-tRNA-ligase_II - no_errors KARS HGNC ENSG00000065427 39 0 0.00 25 3 10.71 KCTD7 0 genome.wustl.edu 37 7 66236988 66236988 + Missense_Mutation SNP C C G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 7 66236988 66236988 C G SNP KCTD7 ENST00000380828 human ensembl 74_37 +1 known missense c.102 p.F34L 1.000 pfam_Znf_A20,smart_Znf_A20,pfscan_Znf_A20 pfam_VPS9,pfam_Znf_A20,smart_Znf_A20,smart_VPS9_subgr,pfscan_VPS9,pfscan_Znf_A20 - no_errors KCTD7 HGNC ENSG00000243335 tier1 - - 125 0 0.00 86 8 8.51 KDM1B 0 genome.wustl.edu 37 6 18188156 18188156 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 6 18188156 18188156 G A SNP KDM1B ENST00000388870 human ensembl 74_37 +1 known missense c.707 p.S236N 1.000 NULL pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW - no_errors KDM1B HGNC ENSG00000165097 tier1 - - 69 0 0.00 42 5 10.64 KIAA1598 0 genome.wustl.edu 37 10 118708448 118708448 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 10 118708448 118708448 C T SNP KIAA1598 ENST00000392903 human ensembl 74_37 -1 known missense c.595 p.V199I 1.000 NULL superfamily_Adenylate_cyclase-assoc_CAP_N - no_errors KIAA1598 HGNC ENSG00000187164 tier1 - - 87 0 0.00 48 6 11.11 KLHL18 0 genome.wustl.edu 37 3 47384290 47384290 + Silent SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 3 47384290 47384290 C T SNP KLHL18 ENST00000232766 human ensembl 74_37 +1 known silent c.1308 p.G436 0.966 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL18 HGNC ENSG00000114648 tier1 rs147202777 - 101 0 0.00 39 4 9.30 KLHL3 0 genome.wustl.edu 37 5 137013137 137013137 + RNA DEL A A - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 5 137013137 137013137 A - DEL KLHL3 ENST00000510529 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors KLHL3 HGNC ENSG00000146021 tier1 34 0 0.00 22 3 12.00 KLRD1 0 genome.wustl.edu 37 12 10464159 10464159 + Missense_Mutation SNP A A T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 12 10464159 10464159 A T SNP KLRD1 ENST00000381908 human ensembl 74_37 +1 known missense c.260 p.H87L 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRD1 HGNC ENSG00000134539 tier1 - - 93 0 0.00 35 18 33.96 KMT2D 0 genome.wustl.edu 37 12 49432030 49432030 + Frame_Shift_Del DEL G G - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 12 49432030 49432030 G - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.9109 p.H3037fs 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 32 0 0.00 14 8 36.36 KRTAP4-9 0 genome.wustl.edu 37 17 39261661 39261661 + Silent SNP C C G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 17 39261661 39261661 C G SNP KRTAP4-9 ENST00000391415 human ensembl 74_37 +1 known silent c.21 p.G7 0.972 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-9 HGNC ENSG00000212722 tier1 - - 366 0 0.00 132 107 44.77 KRTAP5-9 0 genome.wustl.edu 37 11 71260187 71260187 + Missense_Mutation SNP C C G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 11 71260187 71260187 C G SNP KRTAP5-9 ENST00000528743 human ensembl 74_37 +1 known missense c.484 p.P162A 0.349 NULL NULL - no_errors KRTAP5-9 HGNC ENSG00000254997 tier1 - - 144 0 0.00 100 13 11.50 LAMTOR1 0 genome.wustl.edu 37 11 71810295 71810295 + Missense_Mutation SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 11 71810295 71810295 T C SNP LAMTOR1 ENST00000278671 human ensembl 74_37 -1 known missense c.50 p.E17G 1.000 NULL NULL - no_errors LAMTOR1 HGNC ENSG00000149357 tier1 - - 56 0 0.00 28 19 40.43 LDB3 0 genome.wustl.edu 37 10 88469744 88469744 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 10 88469744 88469744 G A SNP LDB3 ENST00000429277 human ensembl 74_37 +1 known missense c.1183 p.A395T 0.668 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors LDB3 HGNC ENSG00000122367 tier1 - - 104 0 0.00 27 24 46.15 LMO4 0 genome.wustl.edu 37 1 87810542 87810542 + RNA SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 87810542 87810542 A G SNP LMO4 ENST00000489303 human ensembl 74_37 +1 known rna NULL NULL 0.972 - - - no_errors LMO4 HGNC ENSG00000143013 tier1 - - 71 0 0.00 16 14 46.67 LOC100134259 0 genome.wustl.edu 37 2 47083042 47083042 + RNA DEL A A - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 47083042 47083042 A - DEL LOC100134259 ENST00000495449 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AC016722.2 Clone_based_vega_gene ENSG00000239332 tier1 56 0 0.00 31 12 27.91 LOC101927345 0 genome.wustl.edu 37 1 143378099 143378099 + RNA SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 143378099 143378099 T C SNP LOC101927345 ENST00000428624 human ensembl 74_37 +1 known rna NULL NULL 0.159 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 176 0 0.00 81 5 5.81 LOC284023 0 genome.wustl.edu 37 17 7818793 7818793 + RNA SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 17 7818793 7818793 G T SNP LOC284023 ENST00000324348 human ensembl 74_37 -1 known rna NULL NULL 0.027 - - - no_errors AC025335.1 Clone_based_vega_gene ENSG00000179859 tier1 - - 56 0 0.00 6 9 60.00 LRRC9 0 genome.wustl.edu 37 14 60494606 60494606 + Missense_Mutation SNP T T A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 14 60494606 60494606 T A SNP LRRC9 ENST00000445360 human ensembl 74_37 +1 novel missense c.3708 p.N1236K 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC9 HGNC ENSG00000131951 tier1 - - 90 0 0.00 45 15 25.00 LRRFIP2 0 genome.wustl.edu 37 3 37154454 37154454 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 3 37154454 37154454 G T SNP LRRFIP2 ENST00000336686 human ensembl 74_37 -1 known missense c.390 p.H130Q 0.965 NULL pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin - no_errors LRRFIP2 HGNC ENSG00000093167 52 0 0.00 22 3 12.00 LRRTM1 0 genome.wustl.edu 37 2 80530054 80530054 + Silent SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 80530054 80530054 G T SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known silent c.891 p.P297 0.926 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 40 0 0.00 29 2 6.45 LY75 0 genome.wustl.edu 37 2 160661610 160661610 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 160661610 160661610 C T SNP LY75 ENST00000263636 human ensembl 74_37 -1 known missense c.5114 p.R1705Q 1.000 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 70 0 0.00 30 2 6.25 MAP2 0 genome.wustl.edu 37 2 210560091 210560091 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 210560091 210560091 G T SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.3197 p.R1066M 0.002 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 18 0 0.00 12 2 14.29 MAP2K4 0 genome.wustl.edu 37 17 11935587 11935587 + Missense_Mutation SNP T T A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 17 11935587 11935587 T A SNP MAP2K4 ENST00000415385 human ensembl 74_37 +1 known missense c.120 p.F40L 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K4 HGNC ENSG00000065559 tier1 - - 63 0 0.00 29 3 9.38 MAP3K12 0 genome.wustl.edu 37 12 53878119 53878119 + Missense_Mutation SNP G G C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 12 53878119 53878119 G C SNP MAP3K12 ENST00000267079 human ensembl 74_37 -1 known missense c.1071 p.F357L 1.000 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K12 HGNC ENSG00000139625 tier1 - - 79 0 0.00 49 7 12.50 MAP4 0 genome.wustl.edu 37 3 47969785 47969785 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 3 47969785 47969785 G T SNP MAP4 ENST00000360240 human ensembl 74_37 -1 known missense c.348 p.S116R 0.991 NULL pfam_MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 tier1 - - 181 0 0.00 73 4 5.19 MAP7D2 0 genome.wustl.edu 37 X 20030525 20030525 + Missense_Mutation SNP C C G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 X 20030525 20030525 C G SNP MAP7D2 ENST00000379643 human ensembl 74_37 -1 known missense c.2014 p.D672H 0.991 NULL pfam_MAP7 - no_errors MAP7D2 HGNC ENSG00000184368 tier1 - - 58 0 0.00 39 5 11.36 MAST3 0 genome.wustl.edu 37 19 18255452 18255452 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 19 18255452 18255452 C T SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known missense c.2674 p.R892C 0.996 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 MAST3 HGNC ENSG00000099308 69 0 0.00 45 3 6.25 MCIDAS 0 genome.wustl.edu 37 5 54516532 54516532 + Missense_Mutation SNP C C A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 5 54516532 54516532 C A SNP MCIDAS ENST00000513312 human ensembl 74_37 -1 novel missense c.820 p.G274W 0.145 NULL pfam_Geminin_fam - no_errors MCIDAS HGNC ENSG00000234602 tier1 - - 84 0 0.00 32 4 11.11 MED13L 0 genome.wustl.edu 37 12 116446894 116446894 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 12 116446894 116446894 G T SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.1324 p.P442T 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 tier1 - - 92 0 0.00 67 4 5.63 MRPL22 0 genome.wustl.edu 37 5 154330416 154330416 + Missense_Mutation SNP C C A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 5 154330416 154330416 C A SNP MRPL22 ENST00000523037 human ensembl 74_37 +1 known missense c.113 p.S38Y 0.916 NULL pfam_Ribosomal_L22,superfamily_Ribosomal_L22 - no_errors MRPL22 HGNC ENSG00000082515 tier1 - - 102 0 0.00 17 24 57.14 MS4A10 0 genome.wustl.edu 37 11 60559758 60559758 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 11 60559758 60559758 G T SNP MS4A10 ENST00000308287 human ensembl 74_37 +1 known missense c.324 p.L108F 0.004 pfam_CD20-like pfam_CD20-like - no_errors MS4A10 HGNC ENSG00000172689 82 0 0.00 34 2 5.56 MT-RNR1 0 genome.wustl.edu 37 MT 1574 1574 + RNA SNP G G C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 MT 1574 1574 G C SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 19 0 0.00 1 17 94.44 MT-TM 0 genome.wustl.edu 37 MT 4403 4403 + RNA SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 MT 4403 4403 G A SNP MT-TM ENST00000387377 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-TM HGNC ENSG00000210112 10 0 0.00 9 8 47.06 MTMR12 0 genome.wustl.edu 37 5 32230000 32230000 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 5 32230000 32230000 G T SNP MTMR12 ENST00000382142 human ensembl 74_37 -1 known missense c.2128 p.L710M 0.114 NULL pfam_Myotubularin_assoc - no_errors MTMR12 HGNC ENSG00000150712 54 0 0.00 59 4 6.35 MTUS2 0 genome.wustl.edu 37 13 29600336 29600336 + Nonsense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 13 29600336 29600336 G T SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known nonsense c.1531 p.E511* 0.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 103 0 0.00 33 2 5.71 MUC16 0 genome.wustl.edu 37 19 9067553 9067553 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 19 9067553 9067553 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.19893 p.D6631E 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 47 0 0.00 13 21 61.76 MUC16 0 genome.wustl.edu 37 19 9082704 9082704 + Missense_Mutation SNP C C G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 19 9082704 9082704 C G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.9111 p.E3037D 0.024 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 93 0 0.00 37 2 5.13 MYB 0 genome.wustl.edu 37 6 135511466 135511466 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 6 135511466 135511466 G A SNP MYB ENST00000341911 human ensembl 74_37 +1 known missense c.508 p.A170T 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 83 0 0.00 33 3 8.33 MYCN 0 genome.wustl.edu 37 2 16085955 16085955 + Silent SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 16085955 16085955 G A SNP MYCN ENST00000281043 human ensembl 74_37 +1 known silent c.1131 p.S377 0.988 superfamily_bHLH_dom,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCN HGNC ENSG00000134323 33 0 0.00 32 3 8.57 MYO15A 0 genome.wustl.edu 37 17 18058015 18058015 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 17 18058015 18058015 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.8170 p.E2724K 1.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 27 0 0.00 16 2 11.11 NAV1 0 genome.wustl.edu 37 1 201617946 201617948 + In_Frame_Del DEL CGG CGG - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 CGG CGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 201617946 201617948 CGG - DEL NAV1 ENST00000367296 human ensembl 74_37 +1 known in_frame_del c.150_152 p.G54in_frame_del 0.545:0.955:0.994 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 tier1 22 0 0.00 5 2 28.57 NCOR1 0 genome.wustl.edu 37 17 15950318 15950318 + Missense_Mutation SNP T T A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 17 15950318 15950318 T A SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.6626 p.K2209M 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 tier1 - - 112 0 0.00 21 42 66.67 NFATC2IP 0 genome.wustl.edu 37 16 28975131 28975131 + Silent SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 16 28975131 28975131 C T SNP NFATC2IP ENST00000320805 human ensembl 74_37 +1 known silent c.1207 p.L403 1.000 pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors NFATC2IP HGNC ENSG00000176953 tier1 - - 77 0 0.00 23 4 14.81 NFE2L2 0 genome.wustl.edu 37 2 178098800 178098800 + Missense_Mutation SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 178098800 178098800 T C SNP NFE2L2 ENST00000397062 human ensembl 74_37 -1 known missense c.245 p.E82G 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 tier1 - - 112 0 0.00 32 34 51.52 NLRP4 0 genome.wustl.edu 37 19 56388459 56388459 + Nonsense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 19 56388459 56388459 G T SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known nonsense c.2623 p.E875* 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 tier1 - - 129 0 0.00 59 4 6.35 NOMO2 0 genome.wustl.edu 37 16 18549919 18549919 + Silent SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 16 18549919 18549919 G A SNP NOMO2 ENST00000381474 human ensembl 74_37 -1 known silent c.1149 p.H383 1.000 pfam_DUF2012,superfamily_Carb-bd-like_fold pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO2 HGNC ENSG00000185164 tier1 - - 156 0 0.00 73 6 7.59 NRDE2 0 genome.wustl.edu 37 14 90764706 90764706 + Missense_Mutation SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 14 90764706 90764706 A G SNP NRDE2 ENST00000354366 human ensembl 74_37 -1 known missense c.1564 p.F522L 1.000 pfam_NRDE-2 pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 tier1 - - 39 0 0.00 45 4 8.16 NSUN6 0 genome.wustl.edu 37 10 18840738 18840738 + RNA SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 10 18840738 18840738 A G SNP NSUN6 ENST00000493816 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NSUN6 HGNC ENSG00000241058 tier1 - - 98 0 0.00 32 4 11.11 NTM 0 genome.wustl.edu 37 11 131530880 131530880 + RNA DEL A A - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 11 131530880 131530880 A - DEL NTM ENST00000477098 human ensembl 74_37 +1 putative rna NULL NULL 0.999 - - - no_errors NTM HGNC ENSG00000182667 tier1 45 0 0.00 27 2 6.90 NUTM2B 0 genome.wustl.edu 37 10 81466077 81466077 + Missense_Mutation SNP C C A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 10 81466077 81466077 C A SNP NUTM2B ENST00000429828 human ensembl 74_37 +1 known missense c.662 p.T221N 0.006 NULL NULL - no_errors NUTM2B HGNC ENSG00000188199 tier1 - - 80 0 0.00 33 6 15.38 NYNRIN 0 genome.wustl.edu 37 14 24884194 24884194 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 14 24884194 24884194 C T SNP NYNRIN ENST00000382554 human ensembl 74_37 +1 known missense c.3239 p.A1080V 0.778 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 35 0 0.00 27 2 6.90 OR52N1 0 genome.wustl.edu 37 11 5809136 5809136 + Missense_Mutation SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 11 5809136 5809136 T C SNP OR52N1 ENST00000317078 human ensembl 74_37 -1 known missense c.911 p.E304G 0.228 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N1 HGNC ENSG00000181001 tier1 - - 139 0 0.00 79 38 32.48 OR6K6 0 genome.wustl.edu 37 1 158724854 158724854 + Silent SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 158724854 158724854 G A SNP OR6K6 ENST00000368144 human ensembl 74_37 +1 known silent c.249 p.L83 0.209 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 tier1 - - 78 0 0.00 48 4 7.69 OVCA2 0 genome.wustl.edu 37 17 1946158 1946158 + Silent SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 17 1946158 1946158 G T SNP OVCA2 ENST00000572195 human ensembl 74_37 +1 known silent c.444 p.V148 0.005 pfam_Serine_hydrolase_FSH,pfam_PLipase/COase/thioEstase pfam_Serine_hydrolase_FSH,pfam_PLipase/COase/thioEstase - no_errors OVCA2 HGNC ENSG00000262664 tier1 - - 123 0 0.00 53 4 7.02 PABPC4L 0 genome.wustl.edu 37 4 135121430 135121430 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 4 135121430 135121430 C T SNP PABPC4L ENST00000529122 human ensembl 74_37 -1 known missense c.919 p.E307K 0.834 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC4L HGNC ENSG00000254535 77 0 0.00 30 2 6.25 PCDHA9 0 genome.wustl.edu 37 5 140229519 140229519 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 5 140229519 140229519 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.1439 p.R480Q 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 198 0 0.00 77 6 7.23 PCDHB4 0 genome.wustl.edu 37 5 140503073 140503073 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 5 140503073 140503073 C T SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known missense c.1493 p.P498L 0.001 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 PCDHB4 HGNC ENSG00000081818 tier1 - - 209 0 0.00 116 31 21.09 PDE4DIP 0 genome.wustl.edu 37 1 144917554 144917554 + Missense_Mutation SNP T T A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 144917554 144917554 T A SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.1550 p.D517V 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 79 0 0.00 42 8 16.00 PGAM5 0 genome.wustl.edu 37 12 133295362 133295362 + Missense_Mutation SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 12 133295362 133295362 T C SNP PGAM5 ENST00000317555 human ensembl 74_37 +1 known missense c.734 p.L245S 0.003 NULL pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 - no_errors PGAM5 HGNC ENSG00000247077 tier1 - - 72 0 0.00 25 13 34.21 PHF21A 0 genome.wustl.edu 37 11 45992882 45992882 + Missense_Mutation SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 11 45992882 45992882 T C SNP PHF21A ENST00000257821 human ensembl 74_37 -1 known missense c.397 p.T133A 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 tier1 - - 66 0 0.00 55 4 6.78 PHOX2B 0 genome.wustl.edu 37 4 41749533 41749533 + Missense_Mutation SNP C C A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 4 41749533 41749533 C A SNP PHOX2B ENST00000226382 human ensembl 74_37 -1 known missense c.262 p.D88Y 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1 - no_errors PHOX2B HGNC ENSG00000109132 77 0 0.00 25 3 10.71 PIEZO2 0 genome.wustl.edu 37 18 10741063 10741064 + Frame_Shift_Ins INS - - T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 18 10741063 10741064 - T INS PIEZO2 ENST00000580640 human ensembl 74_37 -1 novel frame_shift_ins c.4674_4673 p.Q1559fs 1.000:1.000 NULL pfam_Piezo - no_errors PIEZO2 HGNC ENSG00000154864 tier1 74 0 0.00 35 3 7.89 PIK3R5 0 genome.wustl.edu 37 17 8793372 8793372 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 17 8793372 8793372 G A SNP PIK3R5 ENST00000269300 human ensembl 74_37 -1 known missense c.554 p.S185L 0.107 NULL pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 tier1 - - 95 0 0.00 16 24 60.00 PITPNA-AS1 0 genome.wustl.edu 37 17 1421325 1421325 + RNA SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 17 1421325 1421325 C T SNP PITPNA-AS1 ENST00000425081 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PITPNA-AS1 HGNC ENSG00000236618 tier1 - - 127 0 0.00 73 4 5.19 PNLIPRP3 0 genome.wustl.edu 37 10 118220679 118220679 + Splice_Site SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 10 118220679 118220679 G T SNP PNLIPRP3 ENST00000369230 human ensembl 74_37 +1 known splice_site c.686-1 e7-1 1.000 - - - no_errors PNLIPRP3 HGNC ENSG00000203837 tier1 - - 141 0 0.00 91 5 5.21 POT1 0 genome.wustl.edu 37 7 124532386 124532386 + Missense_Mutation SNP C C A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 7 124532386 124532386 C A SNP POT1 ENST00000357628 human ensembl 74_37 -1 known missense c.58 p.G20C 0.965 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 tier1 - - 130 0 0.00 96 7 6.80 PPP2R3C 0 genome.wustl.edu 37 14 35564324 35564324 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 14 35564324 35564324 C T SNP PPP2R3C ENST00000261475 human ensembl 74_37 -1 known missense c.905 p.G302E 1.000 NULL NULL - no_errors PPP2R3C HGNC ENSG00000092020 84 0 0.00 73 4 5.19 PPWD1 0 genome.wustl.edu 37 5 64878949 64878949 + Missense_Mutation SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 5 64878949 64878949 A G SNP PPWD1 ENST00000261308 human ensembl 74_37 +1 known missense c.1435 p.M479V 1.000 superfamily_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,pfam_WD40_repeat,superfamily_Cyclophilin-like_PPIase_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PPWD1 HGNC ENSG00000113593 tier1 - - 123 0 0.00 25 37 59.68 PRAMEF2 0 genome.wustl.edu 37 1 12919952 12919952 + Missense_Mutation SNP T T A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 12919952 12919952 T A SNP PRAMEF2 ENST00000240189 human ensembl 74_37 +1 known missense c.692 p.M231K 0.041 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 tier1 - - 359 0 0.00 168 10 5.62 PREPL 0 genome.wustl.edu 37 2 44559740 44559740 + Missense_Mutation SNP C C A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 44559740 44559740 C A SNP PREPL ENST00000260648 human ensembl 74_37 -1 known missense c.1211 p.C404F 1.000 pfam_Pept_S9A_N pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A - no_errors PREPL HGNC ENSG00000138078 tier1 - - 94 0 0.00 34 24 40.68 PRSS36 0 genome.wustl.edu 37 16 31151942 31151942 + Frame_Shift_Del DEL G G - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 16 31151942 31151942 G - DEL PRSS36 ENST00000268281 human ensembl 74_37 -1 known frame_shift_del c.2038 p.L680fs 0.448 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 tier1 52 0 0.00 33 3 8.33 PTCH2 0 genome.wustl.edu 37 1 45293815 45293815 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 45293815 45293815 G T SNP PTCH2 ENST00000372192 human ensembl 74_37 -1 known missense c.1758 p.D586E 0.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 49 0 0.00 23 2 8.00 PTGS2 0 genome.wustl.edu 37 1 186643414 186643414 + RNA SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 186643414 186643414 T C SNP PTGS2 ENST00000490885 human ensembl 74_37 -1 known rna NULL NULL 0.327 - - - no_errors PTGS2 HGNC ENSG00000073756 tier1 - - 58 0 0.00 22 15 40.54 PTPRT 0 genome.wustl.edu 37 20 41306627 41306627 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 20 41306627 41306627 G T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.1032 p.N344K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 rs202093079 - 90 0 0.00 27 26 49.06 PTPRT 0 genome.wustl.edu 37 20 41400075 41400075 + Missense_Mutation SNP C C A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 20 41400075 41400075 C A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.684 p.Q228H 1.000 pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 58 0 0.00 36 2 5.26 PTX4 0 genome.wustl.edu 37 16 1536208 1536208 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 16 1536208 1536208 C T SNP PTX4 ENST00000447419 human ensembl 74_37 -1 known missense c.1169 p.R390K 0.996 pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 tier1 - - 105 0 0.00 34 18 34.62 RANBP6 0 genome.wustl.edu 37 9 6012690 6012690 + Frame_Shift_Del DEL T T - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 9 6012690 6012690 T - DEL RANBP6 ENST00000259569 human ensembl 74_37 -1 known frame_shift_del c.2918 p.N973fs 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 tier1 54 0 0.00 26 2 7.14 RASL11B 0 genome.wustl.edu 37 4 53730489 53730490 + RNA INS - - A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 4 53730489 53730490 - A INS RASL11B ENST00000505041 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors RASL11B HGNC ENSG00000128045 tier1 27 0 0.00 12 2 14.29 RGPD4 0 genome.wustl.edu 37 2 108488905 108488905 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 108488905 108488905 G A SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.4445 p.S1482N 0.001 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 tier1 - - 57 0 0.00 23 12 34.29 RHOF 0 genome.wustl.edu 37 12 122219079 122219079 + Silent SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 12 122219079 122219079 C T SNP RHOF ENST00000267205 human ensembl 74_37 -1 known silent c.246 p.R82 0.965 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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 RHOF HGNC ENSG00000139725 tier1 - - 71 0 0.00 51 5 8.93 RICTOR 0 genome.wustl.edu 37 5 38949966 38949966 + Frame_Shift_Del DEL A A - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 5 38949966 38949966 A - DEL RICTOR ENST00000296782 human ensembl 74_37 -1 known frame_shift_del c.3984 p.F1328fs 1.000 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 tier1 42 0 0.00 34 2 5.56 RNF149 0 genome.wustl.edu 37 2 101911541 101911541 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 101911541 101911541 C T SNP RNF149 ENST00000295317 human ensembl 74_37 -1 known missense c.563 p.G188D 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF149 HGNC ENSG00000163162 tier1 - - 88 0 0.00 41 4 8.89 ROCK1P1 0 genome.wustl.edu 37 18 121622 121623 + RNA INS - - T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 18 121622 121623 - T INS ROCK1P1 ENST00000608049 human ensembl 74_37 +1 known rna NULL NULL 0.999:1.000 - - - no_errors ROCK1P1 HGNC ENSG00000263006 tier1 75 0 0.00 33 20 37.74 ROGDI 0 genome.wustl.edu 37 16 4848675 4848675 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 16 4848675 4848675 G T SNP ROGDI ENST00000587377 human ensembl 74_37 -1 known missense c.439 p.P147T 0.078 NULL pfam_RAVE2/Rogdi - no_errors ROGDI HGNC ENSG00000067836 tier1 - - 144 0 0.00 58 4 6.45 RTN1 0 genome.wustl.edu 37 14 60194151 60194151 + Silent SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 14 60194151 60194151 G A SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known silent c.1251 p.S417 0.097 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 30 0 0.00 22 3 12.00 SERPINE2 0 genome.wustl.edu 37 2 224862917 224862917 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 224862917 224862917 G T SNP SERPINE2 ENST00000258405 human ensembl 74_37 -1 known missense c.402 p.F134L 0.967 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE2 HGNC ENSG00000135919 tier1 - - 107 0 0.00 54 4 6.90 SGK223 0 genome.wustl.edu 37 8 8185637 8185637 + Missense_Mutation SNP T T A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 8 8185637 8185637 T A SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.2655 p.K885N 0.995 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 tier1 - - 103 0 0.00 55 4 6.78 SH3D19 0 genome.wustl.edu 37 4 152147325 152147325 + RNA SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 4 152147325 152147325 G T SNP SH3D19 ENST00000474743 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SH3D19 HGNC ENSG00000109686 tier1 - - 49 0 0.00 12 9 42.86 SIDT2 0 genome.wustl.edu 37 11 117060948 117060948 + Silent SNP C C A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 11 117060948 117060948 C A SNP SIDT2 ENST00000278951 human ensembl 74_37 +1 known silent c.1623 p.I541 1.000 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 30 0 0.00 19 2 9.52 SIGLEC10 0 genome.wustl.edu 37 19 51919988 51919988 + Missense_Mutation SNP A A T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 19 51919988 51919988 A T SNP SIGLEC10 ENST00000339313 human ensembl 74_37 -1 known missense c.638 p.L213H 0.999 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC10 HGNC ENSG00000142512 tier1 - - 238 0 0.00 131 9 6.38 SLC12A6 0 genome.wustl.edu 37 15 34567565 34567565 + Silent SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 15 34567565 34567565 C T SNP SLC12A6 ENST00000558589 human ensembl 74_37 -1 known silent c.270 p.G90 1.000 NULL pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 tier1 - - 70 0 0.00 48 4 7.69 SLC18A2 0 genome.wustl.edu 37 10 119013563 119013563 + Silent SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 10 119013563 119013563 T C SNP SLC18A2 ENST00000298472 human ensembl 74_37 +1 known silent c.528 p.F176 0.988 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC ENSG00000165646 56 0 0.00 34 3 8.11 SLC24A1 0 genome.wustl.edu 37 15 65916671 65916671 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 15 65916671 65916671 G A SNP SLC24A1 ENST00000261892 human ensembl 74_37 +1 known missense c.253 p.E85K 0.001 tigrfam_K-dep_Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A1 HGNC ENSG00000074621 tier1 - - 94 0 0.00 67 10 12.99 SLC34A1 0 genome.wustl.edu 37 5 176812815 176812815 + Nonsense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 5 176812815 176812815 C T SNP SLC34A1 ENST00000324417 human ensembl 74_37 +1 known nonsense c.73 p.R25* 0.014 NULL pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC ENSG00000131183 103 0 0.00 36 2 5.26 SLC4A2 0 genome.wustl.edu 37 7 150769142 150769142 + Silent SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 7 150769142 150769142 C T SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known silent c.2454 p.F818 0.970 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 tier1 - - 67 0 0.00 30 4 11.76 SLC4A3 0 genome.wustl.edu 37 2 220493143 220493143 + Missense_Mutation SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 220493143 220493143 A G SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known missense c.68 p.E23G 1.000 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 87 0 0.00 32 3 8.57 SLK 0 genome.wustl.edu 37 10 105762241 105762241 + Silent SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 10 105762241 105762241 C T SNP SLK ENST00000369755 human ensembl 74_37 +1 known silent c.1305 p.D435 0.002 superfamily_Kinase-like_dom pfam_PKK,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_UVR_dom,pfscan_Prot_kinase_dom - no_errors SLK HGNC ENSG00000065613 tier1 - - 66 0 0.00 26 15 36.59 SMARCA4 0 genome.wustl.edu 37 19 11100104 11100104 + Silent SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 19 11100104 11100104 G A SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known silent c.1230 p.L410 0.996 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 tier1 - - 167 0 0.00 110 7 5.98 SMC2 0 genome.wustl.edu 37 9 106887320 106887321 + Frame_Shift_Ins INS - - A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 9 106887320 106887321 - A INS SMC2 ENST00000286398 human ensembl 74_37 +1 known frame_shift_ins c.2385_2386 p.L797fs 1.000:1.000 superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 tier1 56 0 0.00 36 11 23.40 SMG8 0 genome.wustl.edu 37 17 57289730 57289730 + Silent SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 17 57289730 57289730 G A SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known silent c.1788 p.P596 0.718 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 tier1 - - 125 0 0.00 103 19 15.32 SMURF2 0 genome.wustl.edu 37 17 62543830 62543830 + Silent SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 17 62543830 62543830 G A SNP SMURF2 ENST00000262435 human ensembl 74_37 -1 known silent c.1959 p.V653 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 SMURF2 HGNC ENSG00000108854 tier1 - - 119 0 0.00 53 43 44.33 SNED1 0 genome.wustl.edu 37 2 241991851 241991851 + Silent SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 241991851 241991851 C T SNP SNED1 ENST00000310397 human ensembl 74_37 +1 known silent c.2049 p.C683 0.898 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 106 0 0.00 54 3 5.26 SORBS2 0 genome.wustl.edu 37 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 GGT GGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 4 186544620 186544622 GGT - DEL SORBS2 ENST00000284776 human ensembl 74_37 -1 known in_frame_del c.1951_1949 p.H650in_frame_del 1.000:1.000:1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 tier1 20 0 0.00 5 2 28.57 SP100 0 genome.wustl.edu 37 2 231371134 231371134 + Nonsense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 231371134 231371134 G T SNP SP100 ENST00000340126 human ensembl 74_37 +1 known nonsense c.1987 p.G663* 0.063 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 tier1 - - 67 0 0.00 46 4 8.00 SPATA2 0 genome.wustl.edu 37 20 48523309 48523309 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 20 48523309 48523309 C T SNP SPATA2 ENST00000289431 human ensembl 74_37 -1 known missense c.410 p.C137Y 0.809 NULL NULL - no_errors SPATA2 HGNC ENSG00000158480 73 0 0.00 26 2 7.14 SPATC1 0 genome.wustl.edu 37 8 145095486 145095486 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 8 145095486 145095486 C T SNP SPATC1 ENST00000377470 human ensembl 74_37 +1 known missense c.784 p.P262S 0.003 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 48 0 0.00 37 2 5.13 STOX1 0 genome.wustl.edu 37 10 70644114 70644114 + Missense_Mutation SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 10 70644114 70644114 A G SNP STOX1 ENST00000298596 human ensembl 74_37 +1 known missense c.562 p.T188A 1.000 pfam_Storkhead-box_winged-helix pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 70 0 0.00 43 4 8.51 SYNE2 0 genome.wustl.edu 37 14 64691245 64691245 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 14 64691245 64691245 G T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.20449 p.V6817L 0.000 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 - - 70 0 0.00 22 26 54.17 SYTL2 0 genome.wustl.edu 37 11 85435274 85435274 + Silent SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 11 85435274 85435274 T C SNP SYTL2 ENST00000359152 human ensembl 74_37 -1 known silent c.3798 p.A1266 0.006 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 62 0 0.00 29 3 9.38 TAF2 0 genome.wustl.edu 37 8 120793408 120793408 + Missense_Mutation SNP C C G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 8 120793408 120793408 C G SNP TAF2 ENST00000378164 human ensembl 74_37 -1 known missense c.2138 p.W713S 1.000 superfamily_ARM-type_fold pfam_Peptidase_M1_N,superfamily_ARM-type_fold - no_errors TAF2 HGNC ENSG00000064313 tier1 - - 92 0 0.00 53 4 7.02 TET2 0 genome.wustl.edu 37 4 106156651 106156652 + Frame_Shift_Ins INS - - T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 4 106156651 106156652 - T INS TET2 ENST00000380013 human ensembl 74_37 +1 known frame_shift_ins c.1552_1553 p.G520fs 0.000:0.000 NULL NULL - no_errors TET2 HGNC ENSG00000168769 tier1 37 0 0.00 23 2 8.00 TET3 0 genome.wustl.edu 37 2 74274965 74274965 + Nonsense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 74274965 74274965 C T SNP TET3 ENST00000409262 human ensembl 74_37 +1 known nonsense c.1516 p.Q506* 0.972 NULL NULL - no_errors TET3 HGNC ENSG00000187605 tier1 - - 58 0 0.00 30 4 11.76 TEX41 0 genome.wustl.edu 37 2 145909903 145909903 + RNA DEL A A - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 145909903 145909903 A - DEL TEX41 ENST00000597173 human ensembl 74_37 +1 known rna NULL NULL 0.072 - - - no_errors TEX41 HGNC ENSG00000226674 tier1 13 0 0.00 7 2 22.22 TFAP2D 0 genome.wustl.edu 37 6 50696619 50696619 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 6 50696619 50696619 C T SNP TFAP2D ENST00000008391 human ensembl 74_37 +1 known missense c.649 p.R217C 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 85 0 0.00 30 3 9.09 TG 0 genome.wustl.edu 37 8 133925360 133925360 + Missense_Mutation SNP C C A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 8 133925360 133925360 C A SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.4228 p.L1410I 1.000 pirsf_Thyroglobulin 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 - - 95 0 0.00 63 4 5.97 THBS2 0 genome.wustl.edu 37 6 169648886 169648886 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 6 169648886 169648886 G A SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known missense c.235 p.R79W 0.939 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 65 0 0.00 36 2 5.26 THNSL1 0 genome.wustl.edu 37 10 25313365 25313365 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 10 25313365 25313365 G T SNP THNSL1 ENST00000376356 human ensembl 74_37 +1 known missense c.1213 p.A405S 1.000 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like pfam_Shikimate_kinase/TSH1,pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_P-loop_NTPase,prints_Shikimate_kinase/TSH1,tigrfam_Thr_synthase_like - no_errors THNSL1 HGNC ENSG00000185875 81 0 0.00 36 2 5.26 THSD7B 0 genome.wustl.edu 37 2 137814518 137814518 + Nonsense_Mutation SNP C C A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 137814518 137814518 C A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known nonsense c.668 p.S223* 0.325 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 THSD7B HGNC ENSG00000144229 tier1 - - 67 0 0.00 21 24 53.33 TMEM88B 0 genome.wustl.edu 37 1 1361531 1361533 + In_Frame_Del DEL GGA GGA - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 1361531 1361533 GGA - DEL TMEM88B ENST00000378821 human ensembl 74_37 +1 novel in_frame_del c.24_26 p.E12in_frame_del 0.001:0.809:0.920 NULL NULL - no_errors TMEM88B HGNC ENSG00000205116 tier1 30 0 0.00 11 2 15.38 TNFSF9 0 genome.wustl.edu 37 19 6534855 6534855 + Missense_Mutation SNP G G C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 19 6534855 6534855 G C SNP TNFSF9 ENST00000245817 human ensembl 74_37 +1 known missense c.543 p.L181F 0.017 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom - no_errors TNFSF9 HGNC ENSG00000125657 tier1 - - 34 0 0.00 19 7 26.92 TP53 0 genome.wustl.edu 37 17 7574035 7574035 + Splice_Site SNP T T G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 17 7574035 7574035 T G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.994-2 e9-2 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 36 0 0.00 3 8 72.73 TP53TG3D 0 genome.wustl.edu 37 16 32266327 32266327 + RNA SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 16 32266327 32266327 A G SNP TP53TG3D ENST00000564810 human ensembl 74_37 +1 known rna NULL NULL 0.282 - - - no_errors TP53TG3D HGNC ENSG00000205456 tier1 - - 65 0 0.00 34 15 30.61 TPR 0 genome.wustl.edu 37 1 186324664 186324664 + Missense_Mutation SNP T T A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 186324664 186324664 T A SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.2049 p.K683N 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 tier1 - - 88 0 0.00 34 36 51.43 TPRXL 0 genome.wustl.edu 37 3 14105969 14105970 + In_Frame_Ins INS - - CAA TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 3 14105969 14105970 - CAA INS TPRXL ENST00000326972 human ensembl 74_37 +1 known in_frame_ins c.293_294 p.99in_frame_insN 0.643:0.292 NULL NULL - no_errors TPRXL HGNC ENSG00000180438 tier1 39 0 0.00 12 2 14.29 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5655862 5655862 + Missense_Mutation SNP A A T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 11 5655862 5655862 A T SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 +1 known missense c.1583 p.Y528F 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 tier1 - - 43 0 0.00 17 5 22.73 TRPM3 0 genome.wustl.edu 37 9 73213386 73213386 + Silent SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 9 73213386 73213386 G T SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known silent c.3042 p.I1014 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 tier1 - - 58 0 0.00 28 4 12.50 TSG101 0 genome.wustl.edu 37 11 18502163 18502163 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 11 18502163 18502163 C T SNP TSG101 ENST00000251968 human ensembl 74_37 -1 known missense c.1103 p.R368H 1.000 pfam_Steadiness_box pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD - no_errors TSG101 HGNC ENSG00000074319 tier1 - - 84 0 0.00 71 4 5.33 TSGA10 0 genome.wustl.edu 37 2 99720450 99720450 + Missense_Mutation SNP T T A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 99720450 99720450 T A SNP TSGA10 ENST00000355053 human ensembl 74_37 -1 known missense c.591 p.K197N 1.000 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 tier1 - - 117 0 0.00 74 5 6.33 TTC28 0 genome.wustl.edu 37 22 28503113 28503113 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 22 28503113 28503113 G A SNP TTC28 ENST00000397906 human ensembl 74_37 -1 novel missense c.2720 p.A907V 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 70 0 0.00 54 3 5.26 TTLL13 0 genome.wustl.edu 37 15 90805255 90805255 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 15 90805255 90805255 C T SNP TTLL13 ENST00000438251 human ensembl 74_37 +1 known missense c.1370 p.S457L 0.027 NULL pfam_TTL/TTLL_fam - no_errors TTLL13 HGNC ENSG00000213471 tier1 - - 74 0 0.00 40 22 35.48 TTN 0 genome.wustl.edu 37 2 179451855 179451855 + Silent SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 179451855 179451855 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.56379 p.S18793 0.993 superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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 - - 69 0 0.00 40 4 9.09 TTN 0 genome.wustl.edu 37 2 179659182 179659182 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 179659182 179659182 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.1342 p.Q448K 1.000 pfam_Titin_Z,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 52 0 0.00 46 3 6.12 UACA 0 genome.wustl.edu 37 15 70960127 70960127 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 15 70960127 70960127 C T SNP UACA ENST00000322954 human ensembl 74_37 -1 known missense c.2896 p.E966K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 49 0 0.00 38 2 5.00 UBR2 0 genome.wustl.edu 37 6 42652546 42652546 + Missense_Mutation SNP C C A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 6 42652546 42652546 C A SNP UBR2 ENST00000372899 human ensembl 74_37 +1 known missense c.4790 p.S1597Y 0.997 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 tier1 - - 166 0 0.00 83 6 6.74 UNC13C 0 genome.wustl.edu 37 15 54916018 54916018 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 15 54916018 54916018 G T SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.6225 p.W2075C 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 106 0 0.00 63 4 5.97 UPP1 0 genome.wustl.edu 37 7 48147845 48147845 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 7 48147845 48147845 G T SNP UPP1 ENST00000331803 human ensembl 74_37 +1 known missense c.824 p.R275L 1.000 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP1 HGNC ENSG00000183696 tier1 - - 86 0 0.00 52 31 36.90 USH2A 0 genome.wustl.edu 37 1 216052369 216052369 + Silent SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 1 216052369 216052369 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.8295 p.H2765 0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 73 0 0.00 43 8 15.69 USP34 0 genome.wustl.edu 37 2 61493302 61493302 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 2 61493302 61493302 C T SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.5434 p.E1812K 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 tier1 - - 54 0 0.00 43 5 10.42 USP5 0 genome.wustl.edu 37 12 6975191 6975191 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 12 6975191 6975191 C T SNP USP5 ENST00000229268 human ensembl 74_37 +1 known missense c.2527 p.P843S 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 85 0 0.00 67 4 5.63 VAV1 0 genome.wustl.edu 37 19 6833223 6833223 + Missense_Mutation SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 19 6833223 6833223 G T SNP VAV1 ENST00000602142 human ensembl 74_37 +1 known missense c.1537 p.A513S 0.991 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 104 0 0.00 64 4 5.88 VNN1 0 genome.wustl.edu 37 6 133014172 133014172 + Missense_Mutation SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 6 133014172 133014172 T C SNP VNN1 ENST00000367928 human ensembl 74_37 -1 known missense c.817 p.K273E 0.000 superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN1 HGNC ENSG00000112299 tier1 - - 67 0 0.00 30 6 16.67 VPS53 0 genome.wustl.edu 37 17 526849 526849 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 17 526849 526849 G A SNP VPS53 ENST00000437048 human ensembl 74_37 -1 known missense c.1040 p.A347V 1.000 pfam_Vps53_N pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS53 HGNC ENSG00000141252 tier1 - - 121 0 0.00 54 4 6.90 WDR59 0 genome.wustl.edu 37 16 74990506 74990506 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 16 74990506 74990506 C T SNP WDR59 ENST00000262144 human ensembl 74_37 -1 known missense c.107 p.R36H 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR59 HGNC ENSG00000103091 61 0 0.00 32 2 5.88 WDR81 0 genome.wustl.edu 37 17 1640737 1640737 + Missense_Mutation SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 17 1640737 1640737 A G SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.5584 p.T1862A 0.746 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 tier1 - - 47 0 0.00 15 4 21.05 WT1 0 genome.wustl.edu 37 11 32456397 32456397 + Silent SNP G G T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 11 32456397 32456397 G T SNP WT1 ENST00000332351 human ensembl 74_37 -1 known silent c.495 p.S165 0.128 pfam_Wilms_tumour_N pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour - no_errors WT1 HGNC ENSG00000184937 100 0 0.00 76 4 5.00 XCR1 0 genome.wustl.edu 37 3 46062533 46062533 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 3 46062533 46062533 G A SNP XCR1 ENST00000309285 human ensembl 74_37 -1 known missense c.907 p.R303W 0.000 prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 tier1 - - 70 0 0.00 43 4 8.51 XPO5 0 genome.wustl.edu 37 6 43528718 43528718 + Silent SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 6 43528718 43528718 T C SNP XPO5 ENST00000265351 human ensembl 74_37 -1 known silent c.1038 p.P346 0.058 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPO5 HGNC ENSG00000124571 tier1 - - 138 0 0.00 41 22 34.92 XPO5 0 genome.wustl.edu 37 6 43501711 43501711 + Silent SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 6 43501711 43501711 T C SNP XPO5 ENST00000265351 human ensembl 74_37 -1 known silent c.2376 p.L792 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPO5 HGNC ENSG00000124571 57 0 0.00 26 2 7.14 ZBTB38 0 genome.wustl.edu 37 3 141161329 141161329 + Silent SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 3 141161329 141161329 C T SNP ZBTB38 ENST00000321464 human ensembl 74_37 +1 known silent c.102 p.C34 0.999 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 63 0 0.00 55 4 6.78 ZCCHC18 0 genome.wustl.edu 37 X 103359001 103359001 + Missense_Mutation SNP C C A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 X 103359001 103359001 C A SNP ZCCHC18 ENST00000537356 human ensembl 74_37 +1 putative missense c.199 p.Q67K 0.999 NULL superfamily_Znf_CCHC - no_errors ZCCHC18 HGNC ENSG00000166707 tier1 - - 26 0 0.00 13 8 38.10 ZCCHC24 0 genome.wustl.edu 37 10 81154164 81154164 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 10 81154164 81154164 G A SNP ZCCHC24 ENST00000372333 human ensembl 74_37 -1 known missense c.301 p.P101S 1.000 NULL NULL - no_errors ZCCHC24 HGNC ENSG00000165424 tier1 - - 59 0 0.00 36 4 10.00 ZEB1 0 genome.wustl.edu 37 10 31810432 31810432 + Silent SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 10 31810432 31810432 T C SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known silent c.2172 p.A724 0.155 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 tier1 - - 88 0 0.00 43 5 10.42 ZFAS1 0 genome.wustl.edu 37 20 47897085 47897086 + RNA DEL AT AT - TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 20 47897085 47897086 AT - DEL ZFAS1 ENST00000326677 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors ZFAS1 HGNC ENSG00000177410 tier1 46 0 0.00 44 8 15.38 ZFHX3 0 genome.wustl.edu 37 16 72831852 72831852 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 16 72831852 72831852 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.4729 p.L1577F 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 tier1 - - 95 0 0.00 31 18 36.73 ZIC4 0 genome.wustl.edu 37 3 147123195 147123195 + Missense_Mutation SNP C C T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 3 147123195 147123195 C T SNP ZIC4 ENST00000425731 human ensembl 74_37 -1 known missense c.64 p.V22I 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC4 HGNC ENSG00000174963 tier1 - - 169 0 0.00 128 7 5.19 ZNF462 0 genome.wustl.edu 37 9 109691399 109691399 + Missense_Mutation SNP A A T TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 9 109691399 109691399 A T SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.5206 p.I1736F 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 tier1 - - 58 0 0.00 41 4 8.89 ZNF525 0 genome.wustl.edu 37 19 53887184 53887184 + RNA SNP C C A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 19 53887184 53887184 C A SNP ZNF525 ENST00000601790 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF525 HGNC ENSG00000203326 tier1 - - 38 0 0.00 16 10 38.46 ZNF611 0 genome.wustl.edu 37 19 53219110 53219110 + Missense_Mutation SNP T T C TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 19 53219110 53219110 T C SNP ZNF611 ENST00000319783 human ensembl 74_37 -1 known missense c.38 p.K13R 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF611 HGNC ENSG00000213020 121 0 0.00 58 4 6.45 ZNF720 0 genome.wustl.edu 37 16 31766690 31766690 + Missense_Mutation SNP G G A TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e77f4886-c395-4825-91fc-934a09f70561 1cb03d3d-a826-4a48-bd82-a13d05c9c705 16 31766690 31766690 G A SNP ZNF720 ENST00000399681 human ensembl 74_37 +1 known missense c.1078 p.G360R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF720 HGNC ENSG00000197302 tier1 - - 88 0 0.00 37 18 32.73