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 ABHD16A 0 genome.wustl.edu 37 6 31664812 31664812 + Splice_Site SNP T T G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 31664812 31664812 T G SNP ABHD16A ENST00000395952 human ensembl 74_37 -1 known splice_site c.344-2 e5-2 0.980 - - - no_errors ABHD16A HGNC ENSG00000204427 tier1 - - 79 0 0.00 70 55 44.00 ABHD17A 0 genome.wustl.edu 37 19 1881527 1881527 + Frame_Shift_Del DEL G G - TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 19 1881527 1881527 G 0 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 20 0 0.00 59 9 13.24 ABHD17A 0 genome.wustl.edu 37 19 1881529 1881530 + Frame_Shift_Del DEL AG AG - TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 19 1881529 1881530 AG 0 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 20 0 0.00 58 9 13.43 ABHD2 0 genome.wustl.edu 37 15 89695080 89695080 + Nonsense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 15 89695080 89695080 G T SNP ABHD2 ENST00000352732 human ensembl 74_37 +1 known nonsense c.367 p.G123* 1.000 pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD2 HGNC ENSG00000140526 22 0 0.00 58 4 6.45 ADAM29 0 genome.wustl.edu 37 4 175896998 175896998 + Frame_Shift_Del DEL G G - TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 4 175896998 175896998 G - DEL ADAM29 ENST00000359240 human ensembl 74_37 +1 known frame_shift_del c.322 p.D109fs 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 tier1 62 0 0.00 45 25 35.71 ADAM29 0 genome.wustl.edu 37 4 175897002 175897002 + Missense_Mutation SNP A A T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 4 175897002 175897002 A T SNP ADAM29 ENST00000359240 human ensembl 74_37 +1 known missense c.326 p.D109V 0.981 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 tier1 - - 61 0 0.00 43 25 36.76 ADAMTS12 0 genome.wustl.edu 37 5 33561131 33561131 + Splice_Site SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 5 33561131 33561131 C T SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known splice_site c.4125+1 e20+1 1.000 - - - no_errors ADAMTS12 HGNC ENSG00000151388 tier1 - - 120 0 0.00 95 159 62.35 ADD2 0 genome.wustl.edu 37 2 70910897 70910897 + Silent SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 2 70910897 70910897 C T SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known silent c.951 p.V317 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 tier1 - - 17 0 0.00 28 9 24.32 ADORA2A 0 genome.wustl.edu 37 22 24836725 24836725 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 22 24836725 24836725 G T SNP ADORA2A ENST00000337539 human ensembl 74_37 +1 known missense c.507 p.E169D 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt 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 tier1 - - 35 0 0.00 72 4 5.26 AGPAT4 0 genome.wustl.edu 37 6 161557631 161557631 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 161557631 161557631 C T SNP AGPAT4 ENST00000320285 human ensembl 74_37 -1 known missense c.1078 p.E360K 0.181 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT4 HGNC ENSG00000026652 30 0 0.00 26 2 7.14 AHCYL1 0 genome.wustl.edu 37 1 110559031 110559031 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 110559031 110559031 C T SNP AHCYL1 ENST00000369799 human ensembl 74_37 +1 known missense c.848 p.T283I 1.000 pfam_Adenosylhomocysteinase,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCYL1 HGNC ENSG00000168710 35 0 0.00 46 4 8.00 ALMS1P 0 genome.wustl.edu 37 2 73901066 73901066 + RNA SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 2 73901066 73901066 G A SNP ALMS1P ENST00000450720 human ensembl 74_37 +1 known rna NULL NULL 0.537 - - - no_errors ALMS1P HGNC ENSG00000163016 tier1 - - 47 0 0.00 58 17 22.67 ALOX15B 0 genome.wustl.edu 37 17 7942529 7942529 + Missense_Mutation SNP G G C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 7942529 7942529 G C SNP ALOX15B ENST00000380183 human ensembl 74_37 +1 known missense c.56 p.W19S 0.674 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15B HGNC ENSG00000179593 tier1 - - 103 0 0.00 80 33 29.20 ANKRD24 0 genome.wustl.edu 37 19 4217366 4217366 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 19 4217366 4217366 C T SNP ANKRD24 ENST00000318934 human ensembl 74_37 +1 known missense c.2209 p.R737W 0.109 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC ENSG00000089847 tier1 - - 51 0 0.00 58 41 41.41 AOC3 0 genome.wustl.edu 37 17 41003957 41003957 + Silent SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 41003957 41003957 C T SNP AOC3 ENST00000308423 human ensembl 74_37 +1 known silent c.597 p.C199 0.499 pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_N-reg pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 tier1 - - 35 0 0.00 62 4 6.06 AOX1 0 genome.wustl.edu 37 2 201488706 201488706 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 2 201488706 201488706 G T SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known missense c.2124 p.E708D 1.000 superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 26 0 0.00 33 2 5.71 AP2A1 0 genome.wustl.edu 37 19 50302585 50302585 + Nonsense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 19 50302585 50302585 G T SNP AP2A1 ENST00000354293 human ensembl 74_37 +1 known nonsense c.967 p.E323* 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 21 0 0.00 30 2 6.25 APOB 0 genome.wustl.edu 37 2 21228972 21228972 + Missense_Mutation SNP C C G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 2 21228972 21228972 C G SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.10768 p.E3590Q 0.263 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 46 0 0.00 68 26 27.66 ARID1B 0 genome.wustl.edu 37 6 157528625 157528625 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 157528625 157528625 G T SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known missense c.6470 p.R2157M 1.000 pfam_DUF3518,superfamily_ARM-type_fold pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 tier1 - - 53 0 0.00 62 5 7.46 ARID1B 0 genome.wustl.edu 37 6 157517363 157517363 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 157517363 157517363 G T SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known missense c.4047 p.M1349I 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 55 0 0.00 47 3 6.00 ARID5A 0 genome.wustl.edu 37 2 97217709 97217709 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 2 97217709 97217709 G A SNP ARID5A ENST00000357485 human ensembl 74_37 +1 known missense c.1444 p.G482S 0.001 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5A HGNC ENSG00000196843 tier1 rs150071690 - 35 0 0.00 101 10 8.93 ARNT2 0 genome.wustl.edu 37 15 80767399 80767399 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 15 80767399 80767399 G T SNP ARNT2 ENST00000303329 human ensembl 74_37 +1 known missense c.457 p.V153L 1.000 pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS,prints_Nuc_translocat pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 tier1 - - 45 0 0.00 66 4 5.71 ASAH2 0 genome.wustl.edu 37 10 51974561 51974561 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 10 51974561 51974561 C T SNP ASAH2 ENST00000395526 human ensembl 74_37 -1 known missense c.1082 p.R361H 0.058 pfam_Ceramidase_alk pfam_Ceramidase_alk - no_errors ASAH2 HGNC ENSG00000188611 tier1 - - 106 0 0.00 85 44 34.11 ASAH2C 0 genome.wustl.edu 37 10 48029278 48029278 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 10 48029278 48029278 C T SNP ASAH2C ENST00000426610 human ensembl 74_37 -1 known missense c.608 p.R203H 0.795 pfam_Ceramidase_alk pfam_Ceramidase_alk - no_errors ASAH2C HGNC ENSG00000072444 tier1 - - 42 0 0.00 44 28 38.89 BCL2A1 0 genome.wustl.edu 37 15 80263190 80263190 + Missense_Mutation SNP G G C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 15 80263190 80263190 G C SNP BCL2A1 ENST00000267953 human ensembl 74_37 -1 known missense c.272 p.T91S 1.000 pfam_Blc2_fam,pfscan_Bcl2-like,prints_Bcl2A1,prints_Blc2_fam pfam_Blc2_fam,pfscan_Bcl2-like,prints_Bcl2A1,prints_Blc2_fam - no_errors BCL2A1 HGNC ENSG00000140379 tier1 - - 49 0 0.00 50 18 26.47 BEST3 0 genome.wustl.edu 37 12 70049532 70049532 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 12 70049532 70049532 G A SNP BEST3 ENST00000330891 human ensembl 74_37 -1 known missense c.1162 p.R388W 0.072 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 28 0 0.00 33 3 8.33 BHLHE22 0 genome.wustl.edu 37 8 65494014 65494014 + Missense_Mutation SNP A A G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 8 65494014 65494014 A G SNP BHLHE22 ENST00000321870 human ensembl 74_37 +1 known missense c.667 p.S223G 0.985 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE22 HGNC ENSG00000180828 10 0 0.00 30 4 11.76 BRINP3 0 genome.wustl.edu 37 1 190423839 190423839 + Nonsense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 190423839 190423839 G A SNP BRINP3 ENST00000534846 human ensembl 74_37 -1 known nonsense c.67 p.Q23* 1.000 smart_MACPF smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 tier1 - - 42 0 0.00 54 4 6.90 BTN2A2 0 genome.wustl.edu 37 6 26392963 26392963 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 26392963 26392963 G A SNP BTN2A2 ENST00000356709 human ensembl 74_37 +1 known missense c.1340 p.G447D 0.897 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A2 HGNC ENSG00000124508 71 0 0.00 62 4 6.06 C10orf2 0 genome.wustl.edu 37 10 102753223 102753224 + Frame_Shift_Ins INS - - C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 10 102753223 102753224 - C INS C10orf2 ENST00000311916 human ensembl 74_37 +1 known frame_shift_ins c.2011_2012 p.T673fs 0.001:0.000 NULL pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC ENSG00000107815 tier1 44 0 0.00 29 8 21.62 C19orf44 0 genome.wustl.edu 37 19 16613994 16613994 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 19 16613994 16613994 G A SNP C19orf44 ENST00000221671 human ensembl 74_37 +1 known missense c.878 p.R293H 0.000 NULL NULL - no_errors C19orf44 HGNC ENSG00000105072 22 0 0.00 33 4 10.81 C20orf96 0 genome.wustl.edu 37 20 257898 257898 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 20 257898 257898 C T SNP C20orf96 ENST00000360321 human ensembl 74_37 -1 known missense c.692 p.R231H 0.958 NULL NULL - no_errors C20orf96 HGNC ENSG00000196476 24 0 0.00 72 4 5.26 C3 0 genome.wustl.edu 37 19 6719280 6719280 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 19 6719280 6719280 G A SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.209 p.S70F 0.000 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 tier1 - - 71 0 0.00 115 15 11.54 C9orf24 0 genome.wustl.edu 37 9 34381092 34381092 + Silent SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 9 34381092 34381092 C T SNP C9orf24 ENST00000297623 human ensembl 74_37 -1 known silent c.510 p.S170 0.397 NULL NULL - no_errors C9orf24 HGNC ENSG00000164972 tier1 - - 13 0 0.00 28 21 42.86 CA8 0 genome.wustl.edu 37 8 61135295 61135295 + Silent SNP C C A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 8 61135295 61135295 C A SNP CA8 ENST00000317995 human ensembl 74_37 -1 known silent c.651 p.V217 0.940 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA8 HGNC ENSG00000178538 tier1 - - 38 0 0.00 57 13 18.57 CACNA1I 0 genome.wustl.edu 37 22 40036971 40036971 + Nonsense_Mutation SNP C C A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 22 40036971 40036971 C A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known nonsense c.840 p.C280* 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 42 0 0.00 53 4 7.02 CAMK2N1 0 genome.wustl.edu 37 1 20809950 20809950 + RNA SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 20809950 20809950 G T SNP CAMK2N1 ENST00000489020 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors CAMK2N1 HGNC ENSG00000162545 tier1 - - 34 0 0.00 51 4 7.27 CAPNS1 0 genome.wustl.edu 37 19 36632054 36632054 + Silent SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 19 36632054 36632054 C T SNP CAPNS1 ENST00000588780 human ensembl 74_37 +1 known silent c.141 p.G47 0.020 NULL pfscan_EF_hand_dom - no_errors CAPNS1 HGNC ENSG00000126247 40 0 0.00 65 9 11.84 CASC3 0 genome.wustl.edu 37 17 38324562 38324562 + Silent SNP T T C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 38324562 38324562 T C SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known silent c.1857 p.P619 0.926 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 tier1 - - 52 0 0.00 31 61 66.30 CBLN2 0 genome.wustl.edu 37 18 70209175 70209175 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 18 70209175 70209175 G A SNP CBLN2 ENST00000269503 human ensembl 74_37 -1 known missense c.221 p.A74V 0.997 NULL pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN2 HGNC ENSG00000141668 44 0 0.00 38 2 5.00 CCDC173 0 genome.wustl.edu 37 2 170510679 170510679 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 2 170510679 170510679 G T SNP CCDC173 ENST00000447353 human ensembl 74_37 -1 known missense c.865 p.Q289K 1.000 NULL NULL - no_errors CCDC173 HGNC ENSG00000154479 30 0 0.00 51 4 7.27 CCDC19 0 genome.wustl.edu 37 1 159869910 159869910 + RNA SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 159869910 159869910 C T SNP CCDC19 ENST00000476696 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CCDC19 HGNC ENSG00000213085 tier1 - - 52 0 0.00 27 31 53.45 CDC25A 0 genome.wustl.edu 37 3 48209413 48209413 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 3 48209413 48209413 G T SNP CDC25A ENST00000302506 human ensembl 74_37 -1 known missense c.952 p.L318M 0.001 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25A HGNC ENSG00000164045 tier1 - - 65 0 0.00 63 4 5.97 CDH6 0 genome.wustl.edu 37 5 31305356 31305356 + Missense_Mutation SNP C C G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 5 31305356 31305356 C G SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known missense c.1075 p.L359V 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 tier1 - - 84 0 0.00 225 17 7.00 CDK11A 0 genome.wustl.edu 37 1 1635742 1635742 + Missense_Mutation SNP T T C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 1635742 1635742 T C SNP CDK11A ENST00000404249 human ensembl 74_37 -1 known missense c.1606 p.K536E 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK11A HGNC ENSG00000008128 tier1 - - 48 0 0.00 33 18 33.96 CDK11B 0 genome.wustl.edu 37 1 1572523 1572523 + Missense_Mutation SNP T T C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 1572523 1572523 T C SNP CDK11B ENST00000407249 human ensembl 74_37 -1 known missense c.1621 p.K541E 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK11B HGNC ENSG00000248333 63 0 0.00 82 8 8.89 CECR2 0 genome.wustl.edu 37 22 17978486 17978486 + Silent SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 22 17978486 17978486 C T SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel silent c.384 p.D128 0.995 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 tier1 - - 40 0 0.00 25 20 44.44 CEP152 0 genome.wustl.edu 37 15 49031153 49031153 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 15 49031153 49031153 G T SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known missense c.4426 p.H1476N 0.006 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 36 0 0.00 34 2 5.56 CLDN9 0 genome.wustl.edu 37 16 3063877 3063877 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 16 3063877 3063877 G T SNP CLDN9 ENST00000445369 human ensembl 74_37 +1 known missense c.514 p.A172S 0.998 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin9 - no_errors CLDN9 HGNC ENSG00000213937 11 0 0.00 17 3 15.00 CNTN3 0 genome.wustl.edu 37 3 74313560 74313560 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 3 74313560 74313560 G T SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.3079 p.L1027M 0.344 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 tier1 - - 73 0 0.00 17 20 54.05 CNTNAP5 0 genome.wustl.edu 37 2 125262121 125262121 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 2 125262121 125262121 G A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.1312 p.E438K 0.978 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 - - 55 0 0.00 263 15 5.38 COL5A1 0 genome.wustl.edu 37 9 137658326 137658326 + Silent SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 9 137658326 137658326 G A SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known silent c.2115 p.P705 0.007 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 tier1 - - 56 0 0.00 103 6 5.41 CSMD3 0 genome.wustl.edu 37 8 113392631 113392631 + Missense_Mutation SNP A A C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 8 113392631 113392631 A C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.6086 p.F2029C 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 61 0 0.00 81 28 25.69 CTBP2 0 genome.wustl.edu 37 10 126678262 126678262 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 10 126678262 126678262 G T SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known missense c.2783 p.P928Q 1.000 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 17 0 0.00 28 2 6.67 CUX2 0 genome.wustl.edu 37 12 111785396 111785396 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 12 111785396 111785396 G A SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.3728 p.G1243D 0.991 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 tier1 - - 44 0 0.00 37 17 31.48 DDX39B 0 genome.wustl.edu 37 6 31500611 31500611 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 31500611 31500611 G T SNP DDX39B ENST00000417556 human ensembl 74_37 -1 known missense c.858 p.D286E 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX39B HGNC ENSG00000198563 46 0 0.00 66 4 5.71 DNAH9 0 genome.wustl.edu 37 17 11648203 11648203 + Silent SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 11648203 11648203 C T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known silent c.6201 p.D2067 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 tier1 - - 40 0 0.00 37 12 24.49 DNAJC5 0 genome.wustl.edu 37 20 62562301 62562301 + Missense_Mutation SNP C C A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 20 62562301 62562301 C A SNP DNAJC5 ENST00000360864 human ensembl 74_37 +1 known missense c.419 p.A140E 1.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC5 HGNC ENSG00000101152 24 0 0.00 34 2 5.56 EDC4 0 genome.wustl.edu 37 16 67913016 67913016 + Nonsense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 16 67913016 67913016 G T SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known nonsense c.1444 p.E482* 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 24 0 0.00 36 2 5.26 EFCAB1 0 genome.wustl.edu 37 8 49647767 49647767 + RNA SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 8 49647767 49647767 G A SNP EFCAB1 ENST00000521002 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors EFCAB1 HGNC ENSG00000034239 tier1 - - 15 0 0.00 49 29 37.18 ELMSAN1 0 genome.wustl.edu 37 14 74205926 74205928 + In_Frame_Del DEL CTG CTG - TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 14 74205926 74205928 CTG 0 DEL ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known in_frame_del c.786_784 p.Q262in_frame_del 1.000:1.000:1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 56 0 0.00 89 6 6.32 EMD 0 genome.wustl.edu 37 X 153609472 153609472 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada X 153609472 153609472 G T SNP EMD ENST00000369842 human ensembl 74_37 +1 known missense c.680 p.G227V 0.999 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom - no_errors EMD HGNC ENSG00000102119 47 0 0.00 68 4 5.56 EME1 0 genome.wustl.edu 37 17 48452977 48452977 + Silent SNP A A G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 48452977 48452977 A G SNP EME1 ENST00000393271 human ensembl 74_37 +1 known silent c.408 p.K136 0.140 NULL pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME1 HGNC ENSG00000154920 57 0 0.00 102 7 6.42 ENSG00000212440 0 genome.wustl.edu 37 12 9439294 9439294 + RNA SNP T T C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 12 9439294 9439294 T C SNP ENSG00000212440 ENST00000391138 human ensembl 74_37 -1 novel rna NULL NULL 0.012 - - - no_errors SNORA75 RFAM ENSG00000212440 tier1 rs200340789 - 10 0 0.00 8 7 46.67 ENSG00000222374 0 genome.wustl.edu 37 10 28599880 28599880 + RNA SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 10 28599880 28599880 G T SNP ENSG00000222374 ENST00000410442 human ensembl 74_37 +1 novel rna NULL NULL 0.038 - - - no_errors AC022021.1 Clone_based_ensembl_gene ENSG00000222374 tier1 - - 47 0 0.00 41 4 8.89 ENSG00000232274 0 genome.wustl.edu 37 1 143119076 143119076 + RNA SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 143119076 143119076 C T SNP ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 - - 52 0 0.00 36 17 31.48 ENSG00000235994 0 genome.wustl.edu 37 6 168377317 168377319 + RNA DEL AGG AGG - TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 168377317 168377319 AGG 0 DEL ENSG00000235994 ENST00000441716 human ensembl 74_37 -1 known rna NULL NULL 0.978:0.981:0.976 - - - no_errors RP3-470B24.5 Clone_based_vega_gene ENSG00000235994 129 0 0.00 153 10 6.13 ENSG00000236233 0 genome.wustl.edu 37 9 67793716 67793716 + RNA SNP G G C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 9 67793716 67793716 G C SNP ENSG00000236233 ENST00000315762 human ensembl 74_37 +1 known rna NULL NULL 0.019 - - - no_errors RP11-12A20.7 Clone_based_vega_gene ENSG00000236233 tier1 rs62543668 - 12 0 0.00 5 5 50.00 ENSG00000236986 0 genome.wustl.edu 37 9 134039651 134039652 + RNA DEL GT GT - TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 9 134039651 134039652 GT - DEL ENSG00000236986 ENST00000592466 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.004 - - - no_errors RP11-544A12.4 Clone_based_vega_gene ENSG00000236986 tier1 25 0 0.00 26 2 7.14 ENSG00000252196 0 genome.wustl.edu 37 6 166355807 166355807 + RNA SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 166355807 166355807 C T SNP ENSG00000252196 ENST00000516387 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AL590482.1 Clone_based_ensembl_gene ENSG00000252196 53 0 0.00 84 5 5.62 ENSG00000254756 0 genome.wustl.edu 37 11 66103925 66103925 + RNA SNP C C A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 11 66103925 66103925 C A SNP ENSG00000254756 ENST00000526655 human ensembl 74_37 +1 known rna NULL NULL 0.738 - - - no_errors RP11-867G23.12 Clone_based_vega_gene ENSG00000254756 tier1 - - 35 0 0.00 62 27 30.34 ENSG00000263887 0 genome.wustl.edu 37 17 60366660 60366660 + RNA SNP T T C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 60366660 60366660 T C SNP ENSG00000263887 ENST00000602493 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-51L5.5 Clone_based_vega_gene ENSG00000263887 tier1 - - 42 0 0.00 99 15 13.16 ENTPD1 0 genome.wustl.edu 37 10 97604276 97604276 + Nonsense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 10 97604276 97604276 G T SNP ENTPD1 ENST00000371207 human ensembl 74_37 +1 known nonsense c.493 p.E165* 0.001 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD1 HGNC ENSG00000138185 tier1 - - 75 0 0.00 76 31 28.97 EPHA3 0 genome.wustl.edu 37 3 89462365 89462365 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 3 89462365 89462365 G T SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.1837 p.A613S 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 tier1 - - 88 0 0.00 66 4 5.71 EPHA7 0 genome.wustl.edu 37 6 93956675 93956675 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 93956675 93956675 C T SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.2561 p.R854H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 tier1 - - 60 0 0.00 33 13 28.26 EVPL 0 genome.wustl.edu 37 17 74017554 74017554 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 74017554 74017554 G T SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.1006 p.R336S 0.970 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 tier1 rs74955334 - 24 0 0.00 51 19 27.14 EVPL 0 genome.wustl.edu 37 17 74017573 74017573 + Silent SNP C C G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 74017573 74017573 C G SNP EVPL ENST00000301607 human ensembl 74_37 -1 known silent c.987 p.L329 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 tier1 rs78569674 - 28 0 0.00 55 19 25.00 EVPL 0 genome.wustl.edu 37 17 74017594 74017594 + Silent SNP A A G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 74017594 74017594 A G SNP EVPL ENST00000301607 human ensembl 74_37 -1 known silent c.966 p.C322 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 tier1 rs193119748 - 28 0 0.00 61 18 22.78 FAM230A 0 genome.wustl.edu 37 22 20710332 20710332 + Silent SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 22 20710332 20710332 G A SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known silent c.2064 p.T688 0.001 NULL pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 135 0 0.00 109 60 35.29 FAM87A 0 genome.wustl.edu 37 8 327684 327684 + RNA SNP A A G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 8 327684 327684 A G SNP FAM87A ENST00000330148 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM87A HGNC ENSG00000182366 tier1 - - 38 0 0.00 26 6 18.75 FBN2 0 genome.wustl.edu 37 5 127611766 127611766 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 5 127611766 127611766 C T SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.7558 p.G2520R 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 60 0 0.00 49 26 34.67 FCRL2 0 genome.wustl.edu 37 1 157746838 157746838 + Missense_Mutation SNP A A G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 157746838 157746838 A G SNP FCRL2 ENST00000361516 human ensembl 74_37 -1 known missense c.26 p.I9T 0.838 NULL pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL2 HGNC ENSG00000132704 tier1 - - 52 0 0.00 51 29 36.25 FGD6 0 genome.wustl.edu 37 12 95546719 95546719 + Silent SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 12 95546719 95546719 G T SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known silent c.2637 p.I879 0.999 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 tier1 - - 78 0 0.00 73 4 5.19 FIGF 0 genome.wustl.edu 37 X 15364202 15364202 + RNA SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada X 15364202 15364202 G A SNP FIGF ENST00000488351 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors FIGF HGNC ENSG00000165197 tier1 - - 91 0 0.00 80 56 41.18 FIP1L1 0 genome.wustl.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 4 54319248 54319249 AG - DEL FIP1L1 ENST00000337488 human ensembl 74_37 +1 known frame_shift_del c.1447_1448 p.E486fs 0.975:0.991 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 tier1 24 0 0.00 30 2 6.25 FLYWCH1 0 genome.wustl.edu 37 16 2986279 2986279 + RNA SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 16 2986279 2986279 C T SNP FLYWCH1 ENST00000570752 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FLYWCH1 HGNC ENSG00000059122 tier1 - - 59 0 0.00 55 24 30.38 FOLH1 0 genome.wustl.edu 37 11 49204790 49204790 + Silent SNP A A G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 11 49204790 49204790 A G SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known silent c.831 p.Y277 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 tier1 rs76509850 - 71 0 0.00 66 4 5.71 FOLH1 0 genome.wustl.edu 37 11 49175427 49175427 + Silent SNP A A G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 11 49175427 49175427 A G SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known silent c.1941 p.S647 0.000 pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 39 0 0.00 32 2 5.71 FOXP1 0 genome.wustl.edu 37 3 71247378 71247378 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 3 71247378 71247378 G A SNP FOXP1 ENST00000318789 human ensembl 74_37 -1 known missense c.155 p.A52V 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 88 0 0.00 64 4 5.88 FRMD8 0 genome.wustl.edu 37 11 65172410 65172410 + Missense_Mutation SNP A A G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 11 65172410 65172410 A G SNP FRMD8 ENST00000317568 human ensembl 74_37 +1 known missense c.1147 p.S383G 0.000 NULL pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD8 HGNC ENSG00000126391 tier1 - - 62 0 0.00 147 50 25.38 FRMPD2 0 genome.wustl.edu 37 10 49395321 49395321 + Missense_Mutation SNP C C A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 10 49395321 49395321 C A SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.2180 p.R727L 0.000 NULL pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 tier1 - - 33 0 0.00 31 20 39.22 G2E3 0 genome.wustl.edu 37 14 31085591 31085591 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 14 31085591 31085591 G T SNP G2E3 ENST00000206595 human ensembl 74_37 +1 known missense c.1972 p.V658L 0.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 tier1 - - 92 0 0.00 90 67 42.68 GDAP2 0 genome.wustl.edu 37 1 118455260 118455260 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 118455260 118455260 G T SNP GDAP2 ENST00000369443 human ensembl 74_37 -1 known missense c.362 p.A121D 1.000 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,superfamily_CRAL-TRIO_dom,smart_Macro_dom,smart_CRAL-TRIO_dom,pfscan_Macro_dom - no_errors GDAP2 HGNC ENSG00000196505 tier1 - - 35 0 0.00 45 4 8.16 GDPD4 0 genome.wustl.edu 37 11 76979559 76979559 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 11 76979559 76979559 G T SNP GDPD4 ENST00000376217 human ensembl 74_37 -1 known missense c.650 p.S217Y 0.997 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD4 HGNC ENSG00000178795 tier1 - - 48 0 0.00 67 103 60.59 GNAZ 0 genome.wustl.edu 37 22 23437787 23437787 + RNA SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 22 23437787 23437787 G A SNP GNAZ ENST00000492538 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GNAZ HGNC ENSG00000128266 tier1 - - 20 0 0.00 28 10 26.32 GOLGA3 0 genome.wustl.edu 37 12 133384931 133384931 + Missense_Mutation SNP T T C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 12 133384931 133384931 T C SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.724 p.K242E 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 tier1 - - 44 0 0.00 43 23 34.85 GPR123 0 genome.wustl.edu 37 10 134895346 134895346 + Missense_Mutation SNP C C A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 10 134895346 134895346 C A SNP GPR123 ENST00000607359 human ensembl 74_37 +1 putative missense c.989 p.T330N 0.001 NULL pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 tier1 - - 50 0 0.00 30 22 41.51 GPR123 0 genome.wustl.edu 37 10 134942261 134942261 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 10 134942261 134942261 G A SNP GPR123 ENST00000607359 human ensembl 74_37 +1 putative missense c.3086 p.R1029H 1.000 pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 tier1 - - 25 0 0.00 8 7 46.67 GPR139 0 genome.wustl.edu 37 16 20043281 20043281 + Missense_Mutation SNP T T C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 16 20043281 20043281 T C SNP GPR139 ENST00000570682 human ensembl 74_37 -1 known missense c.838 p.I280V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR139 HGNC ENSG00000180269 tier1 - - 52 0 0.00 43 31 41.33 GPR32 0 genome.wustl.edu 37 19 51274851 51274851 + Missense_Mutation SNP A A C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 19 51274851 51274851 A C SNP GPR32 ENST00000270590 human ensembl 74_37 +1 known missense c.994 p.T332P 0.018 prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors GPR32 HGNC ENSG00000142511 tier1 rs201404376 - 57 0 0.00 50 9 15.25 GZMH 0 genome.wustl.edu 37 14 25076443 25076443 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 14 25076443 25076443 C T SNP GZMH ENST00000216338 human ensembl 74_37 -1 known missense c.509 p.C170Y 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMH HGNC ENSG00000100450 tier1 - - 16 0 0.00 16 4 20.00 HACE1 0 genome.wustl.edu 37 6 105244829 105244829 + Missense_Mutation SNP A A T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 105244829 105244829 A T SNP HACE1 ENST00000262903 human ensembl 74_37 -1 known missense c.689 p.V230E 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt - no_errors HACE1 HGNC ENSG00000085382 55 0 0.00 74 4 5.13 HARS 0 genome.wustl.edu 37 5 140070830 140070830 + Silent SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 5 140070830 140070830 G T SNP HARS ENST00000504156 human ensembl 74_37 -1 known silent c.60 p.G20 0.015 pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-ligase - no_errors HARS HGNC ENSG00000170445 tier1 - - 34 0 0.00 58 4 6.45 HCN4 0 genome.wustl.edu 37 15 73660109 73660111 + In_Frame_Del DEL GGC GGC - TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 15 73660109 73660111 GGC - DEL HCN4 ENST00000261917 human ensembl 74_37 -1 known in_frame_del c.503_501 p.P168in_frame_del 1.000:0.991:0.975 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 tier1 8 0 0.00 4 2 33.33 HLA-L 0 genome.wustl.edu 37 6 30231236 30231236 + RNA SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 30231236 30231236 C T SNP HLA-L ENST00000463348 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HLA-L HGNC ENSG00000243753 tier1 - - 41 0 0.00 71 4 5.33 HMGB1P5 0 genome.wustl.edu 37 3 22424159 22424159 + RNA SNP T T C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 3 22424159 22424159 T C SNP HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 38 0 0.00 8 3 27.27 ID4 0 genome.wustl.edu 37 6 19838106 19838108 + In_Frame_Del DEL GCG GCG - TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 GCG GCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 19838106 19838108 GCG - DEL ID4 ENST00000378700 human ensembl 74_37 +1 known in_frame_del c.121_123 p.A44in_frame_del 0.988:0.989:0.984 superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_bHLH_dom,superfamily_bHLH_dom,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ID4 HGNC ENSG00000172201 tier1 26 0 0.00 18 2 10.00 INTS10 0 genome.wustl.edu 37 8 19677964 19677964 + Missense_Mutation SNP T T A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 8 19677964 19677964 T A SNP INTS10 ENST00000397977 human ensembl 74_37 +1 known missense c.376 p.L126I 0.005 NULL NULL - no_errors INTS10 HGNC ENSG00000104613 tier1 - - 60 0 0.00 87 8 8.42 ISL2 0 genome.wustl.edu 37 15 76630669 76630669 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 15 76630669 76630669 G A SNP ISL2 ENST00000290759 human ensembl 74_37 +1 known missense c.325 p.V109M 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors ISL2 HGNC ENSG00000159556 58 0 0.00 73 4 5.19 ITGB1BP2 0 genome.wustl.edu 37 X 70524467 70524467 + RNA SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada X 70524467 70524467 C T SNP ITGB1BP2 ENST00000465388 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors ITGB1BP2 HGNC ENSG00000147166 47 0 0.00 76 4 5.00 KCNJ12 0 genome.wustl.edu 37 17 21319092 21319092 + Silent SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 21319092 21319092 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known silent c.438 p.Y146 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 tier1 - - 69 0 0.00 80 6 6.98 KCNMA1 0 genome.wustl.edu 37 10 79397159 79397159 + Missense_Mutation SNP C C A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 10 79397159 79397159 C A SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.242 p.S81I 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 tier1 - - 54 0 0.00 67 4 5.63 KDELR1 0 genome.wustl.edu 37 19 48887553 48887553 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 19 48887553 48887553 C T SNP KDELR1 ENST00000330720 human ensembl 74_37 -1 known missense c.538 p.A180T 1.000 NULL pfam_ER_ret_rcpt,prints_ER_ret_rcpt - no_errors KDELR1 HGNC ENSG00000105438 54 0 0.00 34 3 8.11 KDM6B 0 genome.wustl.edu 37 17 7751886 7751886 + Silent SNP C C G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 7751886 7751886 C G SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known silent c.2280 p.T760 0.191 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 10 0 0.00 20 5 20.00 KDM6B 0 genome.wustl.edu 37 17 7751887 7751887 + Missense_Mutation SNP A A G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 7751887 7751887 A G SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known missense c.2281 p.T761A 0.160 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 9 0 0.00 20 4 16.67 KEL 0 genome.wustl.edu 37 7 142638460 142638460 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 7 142638460 142638460 G A SNP KEL ENST00000355265 human ensembl 74_37 -1 known missense c.2078 p.T693I 0.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors KEL HGNC ENSG00000197993 61 0 0.00 67 4 5.63 KIAA0947 0 genome.wustl.edu 37 5 5447558 5447558 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 5 5447558 5447558 C T SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.443 p.T148I 0.966 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 tier1 - - 71 0 0.00 128 35 21.47 KIF3B 0 genome.wustl.edu 37 20 30917958 30917958 + Silent SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 20 30917958 30917958 G T SNP KIF3B ENST00000375712 human ensembl 74_37 +1 known silent c.1983 p.V661 0.729 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 tier1 - - 41 0 0.00 61 4 6.15 KLHL30 0 genome.wustl.edu 37 2 239054439 239054439 + Silent SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 2 239054439 239054439 C T SNP KLHL30 ENST00000409223 human ensembl 74_37 +1 known silent c.1116 p.S372 0.880 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL30 HGNC ENSG00000168427 79 0 0.00 75 4 5.06 KLK7 0 genome.wustl.edu 37 19 51483659 51483659 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 19 51483659 51483659 G A SNP KLK7 ENST00000304045 human ensembl 74_37 -1 known missense c.158 p.P53L 0.000 NULL NULL - no_errors KLK7 HGNC ENSG00000169035 tier1 - - 55 0 0.00 60 4 6.25 KRTAP5-5 0 genome.wustl.edu 37 11 1651393 1651393 + Missense_Mutation SNP C C G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 11 1651393 1651393 C G SNP KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known missense c.323 p.A108G 0.949 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 43 0 0.00 58 4 6.45 LEFTY2 0 genome.wustl.edu 37 1 226128687 226128687 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 226128687 226128687 C T SNP LEFTY2 ENST00000366820 human ensembl 74_37 -1 known missense c.154 p.V52I 1.000 pfam_TGF-b_N,pirsf_LRDF,prints_LRDF pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF - no_errors LEFTY2 HGNC ENSG00000143768 tier1 rs202147285 - 162 0 0.00 174 113 39.37 LILRA1 0 genome.wustl.edu 37 19 55107747 55107747 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 19 55107747 55107747 C T SNP LILRA1 ENST00000251372 human ensembl 74_37 +1 known missense c.1052 p.P351L 0.000 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA1 HGNC ENSG00000104974 tier1 - - 91 0 0.00 23 41 64.06 LIMCH1 0 genome.wustl.edu 37 4 41633188 41633188 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 4 41633188 41633188 G T SNP LIMCH1 ENST00000503057 human ensembl 74_37 +1 known missense c.1295 p.C432F 0.023 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 tier1 - - 38 0 0.00 45 18 28.57 LINC00634 0 genome.wustl.edu 37 22 42354488 42354489 + RNA DEL GA GA - TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 22 42354488 42354489 GA - DEL LINC00634 ENST00000381348 human ensembl 74_37 +1 known rna NULL NULL 0.088:0.090 - - - no_errors LINC00634 HGNC ENSG00000205704 tier1 20 0 0.00 19 5 20.83 LINC00668 0 genome.wustl.edu 37 18 6927413 6927413 + RNA SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 18 6927413 6927413 C T SNP LINC00668 ENST00000578497 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors LINC00668 HGNC ENSG00000265933 tier1 - - 18 0 0.00 22 5 18.52 LMF1 0 genome.wustl.edu 37 16 920752 920752 + Silent SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 16 920752 920752 G A SNP LMF1 ENST00000262301 human ensembl 74_37 -1 known silent c.1209 p.V403 1.000 pfam_LMF pfam_LMF - no_errors LMF1 HGNC ENSG00000103227 tier1 - - 50 0 0.00 29 23 44.23 LOC100505666 0 genome.wustl.edu 37 1 155018529 155018529 + RNA SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 155018529 155018529 G T SNP LOC100505666 ENST00000452962 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-307C12.11 Clone_based_vega_gene ENSG00000232093 tier1 - - 43 0 0.00 90 5 5.26 LOC440157 0 genome.wustl.edu 37 14 19686397 19686397 + RNA DEL G G - TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 14 19686397 19686397 G - DEL LOC440157 ENST00000418499 human ensembl 74_37 +1 known rna NULL NULL 0.065 - - - no_errors AL589743.1 Clone_based_vega_gene ENSG00000225210 tier1 18 0 0.00 8 4 33.33 LOC645188 0 genome.wustl.edu 37 X 140714645 140714645 + RNA SNP A A T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada X 140714645 140714645 A T SNP LOC645188 ENST00000412163 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-171K16.5 Clone_based_vega_gene ENSG00000223438 tier1 - - 76 0 0.00 52 23 30.67 LONP1 0 genome.wustl.edu 37 19 5719848 5719848 + Frame_Shift_Del DEL C C - TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 19 5719848 5719848 C - DEL LONP1 ENST00000360614 human ensembl 74_37 -1 known frame_shift_del c.296 p.G99fs 0.154 NULL pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP1 HGNC ENSG00000196365 tier1 15 0 0.00 21 14 40.00 LRCH1 0 genome.wustl.edu 37 13 47266728 47266728 + Missense_Mutation SNP G G C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 13 47266728 47266728 G C SNP LRCH1 ENST00000389798 human ensembl 74_37 +1 known missense c.1072 p.E358Q 1.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC ENSG00000136141 tier1 - - 30 0 0.00 47 16 25.40 MAGEC1 0 genome.wustl.edu 37 X 140993814 140993814 + Silent SNP C C G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada X 140993814 140993814 C G SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known silent c.624 p.S208 0.851 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 324 0 0.00 319 64 16.71 MAMLD1 0 genome.wustl.edu 37 X 149639249 149639249 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada X 149639249 149639249 G T SNP MAMLD1 ENST00000432680 human ensembl 74_37 +1 known missense c.1329 p.L443F 1.000 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 17 0 0.00 29 3 9.38 MIR1267 0 genome.wustl.edu 37 13 108183540 108183540 + RNA SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 13 108183540 108183540 G T SNP MIR1267 ENST00000408723 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors MIR1267 HGNC ENSG00000221650 tier1 - - 95 0 0.00 163 59 26.58 MIR146A 0 genome.wustl.edu 37 5 159912317 159912317 + RNA SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 5 159912317 159912317 G A SNP MIR146A ENST00000517927 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR146A HGNC ENSG00000253522 tier1 - - 40 0 0.00 54 4 6.90 MLXIPL 0 genome.wustl.edu 37 7 73008640 73008640 + Silent SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 7 73008640 73008640 G A SNP MLXIPL ENST00000313375 human ensembl 74_37 -1 known silent c.2404 p.L802 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIPL HGNC ENSG00000009950 38 0 0.00 76 4 5.00 MORC4 0 genome.wustl.edu 37 X 106224144 106224144 + Missense_Mutation SNP C C G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada X 106224144 106224144 C G SNP MORC4 ENST00000355610 human ensembl 74_37 -1 known missense c.913 p.D305H 1.000 superfamily_HATPase_ATP-bd pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW - no_errors MORC4 HGNC ENSG00000133131 tier1 - - 87 0 0.00 49 39 44.32 MOV10L1 0 genome.wustl.edu 37 22 50582669 50582669 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 22 50582669 50582669 G T SNP MOV10L1 ENST00000262794 human ensembl 74_37 +1 known missense c.2502 p.E834D 0.995 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 20 0 0.00 24 4 14.29 MPP4 0 genome.wustl.edu 37 2 202521061 202521061 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 2 202521061 202521061 C T SNP MPP4 ENST00000359962 human ensembl 74_37 -1 known missense c.1160 p.R387H 1.000 NULL pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP4 HGNC ENSG00000082126 18 0 0.00 17 2 10.53 MPZL1 0 genome.wustl.edu 37 1 167757103 167757103 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 167757103 167757103 G T SNP MPZL1 ENST00000359523 human ensembl 74_37 +1 known missense c.755 p.S252I 0.998 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0 - no_errors MPZL1 HGNC ENSG00000197965 tier1 - - 35 0 0.00 39 4 9.30 MROH9 0 genome.wustl.edu 37 1 170967362 170967362 + Nonsense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 170967362 170967362 G T SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known nonsense c.1543 p.E515* 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 tier1 - - 71 0 0.00 61 20 24.69 MST1L 0 genome.wustl.edu 37 1 17084569 17084569 + RNA SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 17084569 17084569 G A SNP MST1L ENST00000455405 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MST1L HGNC ENSG00000186715 61 0 0.00 84 9 9.68 MT-RNR2 0 genome.wustl.edu 37 MT 2977 2977 + RNA SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada MT 2977 2977 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 132 0 0.00 82 58 41.13 MT-RNR2 0 genome.wustl.edu 37 MT 2999 2999 + RNA SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada MT 2999 2999 C T SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 117 0 0.00 77 22 22.22 MTMR9 0 genome.wustl.edu 37 8 11163709 11163709 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 8 11163709 11163709 G T SNP MTMR9 ENST00000221086 human ensembl 74_37 +1 known missense c.602 p.R201L 1.000 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom - no_errors MTMR9 HGNC ENSG00000104643 tier1 - - 32 0 0.00 54 4 6.90 MYCBP2 0 genome.wustl.edu 37 13 77835366 77835366 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 13 77835366 77835366 C T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.1792 p.A598T 1.000 superfamily_RCC1/BLIP-II,superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 tier1 - - 48 0 0.00 59 5 7.81 MYH1 0 genome.wustl.edu 37 17 10401141 10401141 + Silent SNP G G C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 10401141 10401141 G C SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known silent c.4275 p.L1425 0.997 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 tier1 - - 59 0 0.00 101 38 27.34 MYH10 0 genome.wustl.edu 37 17 8409714 8409714 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 8409714 8409714 G T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.3278 p.A1093E 0.998 superfamily_HR1_rho-bd pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 tier1 - - 64 0 0.00 79 7 8.14 MYH2 0 genome.wustl.edu 37 17 10428870 10428870 + Nonsense_Mutation SNP C C A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 10428870 10428870 C A SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known nonsense c.4435 p.E1479* 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 49 0 0.00 76 30 28.04 MYO16 0 genome.wustl.edu 37 13 109793189 109793189 + Silent SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 13 109793189 109793189 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.4563 p.V1521 0.988 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 - - 21 0 0.00 11 12 52.17 NCAPG2 0 genome.wustl.edu 37 7 158448144 158448144 + Missense_Mutation SNP C C A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 7 158448144 158448144 C A SNP NCAPG2 ENST00000409339 human ensembl 74_37 -1 known missense c.2392 p.D798Y 0.030 pfam_Condensin2_G2 pfam_Condensin2_G2,superfamily_ARM-type_fold - no_errors NCAPG2 HGNC ENSG00000146918 tier1 - - 34 0 0.00 136 79 36.74 NCKAP1 0 genome.wustl.edu 37 2 183847622 183847622 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 2 183847622 183847622 G T SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known missense c.1153 p.R385S 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 94 0 0.00 71 4 5.33 NCOA6 0 genome.wustl.edu 37 20 33328745 33328745 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 20 33328745 33328745 C T SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known missense c.5315 p.S1772N 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 68 0 0.00 57 4 6.56 NCOR2 0 genome.wustl.edu 37 12 124914204 124914204 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 12 124914204 124914204 G T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.1104 p.S368R 0.996 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 62 0 0.00 59 4 6.35 NDST2 0 genome.wustl.edu 37 10 75566417 75566417 + Missense_Mutation SNP G G C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 10 75566417 75566417 G C SNP NDST2 ENST00000309979 human ensembl 74_37 -1 known missense c.1246 p.L416V 0.998 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST2 HGNC ENSG00000166507 tier1 - - 37 0 0.00 19 11 36.67 NF2 0 genome.wustl.edu 37 22 30070824 30070824 + Splice_Site SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 22 30070824 30070824 G T SNP NF2 ENST00000338641 human ensembl 74_37 +1 known splice_site c.1341-1 e13-1 1.000 - - - no_errors NF2 HGNC ENSG00000186575 tier1 - - 28 0 0.00 40 4 9.09 NIPBL 0 genome.wustl.edu 37 5 37064103 37064103 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 5 37064103 37064103 G T SNP NIPBL ENST00000448238 human ensembl 74_37 +1 known missense c.8072 p.R2691L 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 tier1 - - 54 0 0.00 66 4 5.71 NKAP 0 genome.wustl.edu 37 X 119066177 119066177 + Missense_Mutation SNP T T C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada X 119066177 119066177 T C SNP NKAP ENST00000371410 human ensembl 74_37 -1 known missense c.740 p.K247R 1.000 NULL pfam_DUF926 - no_errors NKAP HGNC ENSG00000101882 tier1 - - 22 0 0.00 53 25 32.05 NLRP12 0 genome.wustl.edu 37 19 54312981 54312981 + Missense_Mutation SNP C C A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 19 54312981 54312981 C A SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.1932 p.K644N 0.115 NULL 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 NLRP12 HGNC ENSG00000142405 tier1 - - 32 0 0.00 7 20 74.07 NOTCH1 0 genome.wustl.edu 37 9 139413042 139413042 + Splice_Site SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 9 139413042 139413042 C T SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known splice_site c.1099+1 e6+1 1.000 - - - no_errors NOTCH1 HGNC ENSG00000148400 tier1 - - 50 0 0.00 23 109 81.95 NPAS4 0 genome.wustl.edu 37 11 66190167 66190167 + Silent SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 11 66190167 66190167 C T SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known silent c.453 p.F151 1.000 superfamily_PAS pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 tier1 - - 23 0 0.00 48 42 46.67 NPVF 0 genome.wustl.edu 37 7 25266610 25266610 + Missense_Mutation SNP A A C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 7 25266610 25266610 A C SNP NPVF ENST00000222674 human ensembl 74_37 -1 known missense c.174 p.N58K 0.687 NULL NULL - no_errors NPVF HGNC ENSG00000105954 tier1 - - 54 0 0.00 34 29 46.03 NTRK1 0 genome.wustl.edu 37 1 156843511 156843511 + Missense_Mutation SNP C C G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 156843511 156843511 C G SNP NTRK1 ENST00000524377 human ensembl 74_37 +1 known missense c.937 p.L313V 0.725 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC ENSG00000198400 tier1 - - 28 0 0.00 30 19 38.78 NUDT12 0 genome.wustl.edu 37 5 102895755 102895755 + Frame_Shift_Del DEL C C - TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 5 102895755 102895755 C - DEL NUDT12 ENST00000230792 human ensembl 74_37 -1 known frame_shift_del c.195 p.E67fs 0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_NUDIX_hydrolase_dom,pfam_Ankyrin_rpt,pfam_Znr_NADH_PPase,pfam_NADH_PPase-like_N,superfamily_NUDIX_hydrolase_dom-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NUDT12 HGNC ENSG00000112874 tier1 72 0 0.00 67 47 41.23 NXF5 0 genome.wustl.edu 37 X 101095814 101095814 + Silent SNP A A G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada X 101095814 101095814 A G SNP NXF5 ENST00000263032 human ensembl 74_37 -1 known silent c.534 p.S178 0.986 NULL pfam_Tap_RNA-bd - no_errors NXF5 HGNC ENSG00000126952 tier1 - - 201 0 0.00 159 107 40.23 OR2M3 0 genome.wustl.edu 37 1 248367307 248367307 + Nonstop_Mutation SNP G G C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 248367307 248367307 G C SNP OR2M3 ENST00000456743 human ensembl 74_37 +1 known nonstop c.938 p.*313S 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M3 HGNC ENSG00000228198 tier1 - - 48 0 0.00 60 59 49.58 OR51G1 0 genome.wustl.edu 37 11 4944691 4944691 + Silent SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 11 4944691 4944691 G T SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known silent c.879 p.I293 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G1 HGNC ENSG00000176879 74 0 0.00 76 4 5.00 OTOG 0 genome.wustl.edu 37 11 17650754 17650754 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 11 17650754 17650754 G A SNP OTOG ENST00000399391 human ensembl 74_37 +1 known missense c.6639 p.M2213I 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 tier1 - - 40 0 0.00 18 17 48.57 PACS1 0 genome.wustl.edu 37 11 66010644 66010644 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 11 66010644 66010644 G A SNP PACS1 ENST00000320580 human ensembl 74_37 +1 known missense c.2785 p.D929N 1.000 pfam_Phosphofurin_acidic_CS-1 pfam_Phosphofurin_acidic_CS-1 - no_errors PACS1 HGNC ENSG00000175115 tier1 - - 40 0 0.00 35 31 46.97 PAPOLB 0 genome.wustl.edu 37 7 4899602 4899602 + Missense_Mutation SNP C C G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 7 4899602 4899602 C G SNP PAPOLB ENST00000404991 human ensembl 74_37 -1 known missense c.1837 p.V613L 0.998 pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLB HGNC ENSG00000218823 tier1 - - 78 0 0.00 103 9 8.04 PCLO 0 genome.wustl.edu 37 7 82474678 82474678 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 7 82474678 82474678 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.13955 p.S4652L 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 81 0 0.00 77 5 6.10 PCLO 0 genome.wustl.edu 37 7 82544508 82544508 + Missense_Mutation SNP C C G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 7 82544508 82544508 C G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.12794 p.G4265A 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 43 0 0.00 60 16 21.05 PCLO 0 genome.wustl.edu 37 7 82585180 82585180 + Missense_Mutation SNP G G C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 7 82585180 82585180 G C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.5089 p.P1697A 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 38 0 0.00 42 17 28.81 PCSK6 0 genome.wustl.edu 37 15 101910603 101910603 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 15 101910603 101910603 C T SNP PCSK6 ENST00000348070 human ensembl 74_37 -1 known missense c.1655 p.R552Q 0.997 pfam_PrprotnconvertsP,superfamily_Galactose-bd-like pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC ENSG00000140479 tier1 - - 43 0 0.00 38 24 38.71 PDE3A 0 genome.wustl.edu 37 12 20786713 20786713 + Splice_Site SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 12 20786713 20786713 G T SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known splice_site c.1846+1 e7+1 1.000 - - - no_errors PDE3A HGNC ENSG00000172572 tier1 - - 92 0 0.00 72 5 6.49 PEX3 0 genome.wustl.edu 37 6 143800253 143800253 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 143800253 143800253 G T SNP PEX3 ENST00000367591 human ensembl 74_37 +1 known missense c.859 p.G287C 1.000 pfam_Peroxin-3 pfam_Peroxin-3 - no_errors PEX3 HGNC ENSG00000034693 tier1 - - 67 0 0.00 66 4 5.71 PEX5 0 genome.wustl.edu 37 12 7344176 7344176 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 12 7344176 7344176 G A SNP PEX5 ENST00000434354 human ensembl 74_37 +1 known missense c.373 p.A125T 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5 HGNC ENSG00000139197 tier1 - - 49 0 0.00 59 4 6.35 PGS1 0 genome.wustl.edu 37 17 76392413 76392413 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 76392413 76392413 C T SNP PGS1 ENST00000262764 human ensembl 74_37 +1 known missense c.358 p.R120W 1.000 pirsf_PLipase-D_PtdSer-synthase-type pirsf_PLipase-D_PtdSer-synthase-type,pfscan_PLipase_D/transphosphatidylase - no_errors PGS1 HGNC ENSG00000087157 tier1 - - 62 0 0.00 60 30 32.97 PHEX 0 genome.wustl.edu 37 X 22117197 22117197 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada X 22117197 22117197 C T SNP PHEX ENST00000379374 human ensembl 74_37 +1 known missense c.1007 p.S336F 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 tier1 - - 96 0 0.00 101 40 28.37 PLA2G2A 0 genome.wustl.edu 37 1 20305467 20305468 + RNA DEL CA CA - TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 20305467 20305468 CA - DEL PLA2G2A ENST00000461140 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.005 - - - no_errors PLA2G2A HGNC ENSG00000188257 tier1 8 0 0.00 6 3 33.33 PLCZ1 0 genome.wustl.edu 37 12 18872455 18872455 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 12 18872455 18872455 G T SNP PLCZ1 ENST00000266505 human ensembl 74_37 -1 known missense c.479 p.P160Q 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC ENSG00000139151 31 0 0.00 38 2 5.00 PLD5 0 genome.wustl.edu 37 1 242264075 242264075 + Missense_Mutation SNP C C G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 242264075 242264075 C G SNP PLD5 ENST00000536534 human ensembl 74_37 -1 known missense c.1249 p.D417H 1.000 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 tier1 - - 55 0 0.00 66 33 32.67 PLXNB2 0 genome.wustl.edu 37 22 50728207 50728207 + Silent SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 22 50728207 50728207 G T SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known silent c.807 p.P269 0.002 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 40 0 0.00 30 2 6.25 PPP4R1L 0 genome.wustl.edu 37 20 56818597 56818597 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 20 56818597 56818597 G T SNP PPP4R1L ENST00000497138 human ensembl 74_37 -1 known missense c.187 p.L63I 0.031 NULL superfamily_ARM-type_fold - no_errors PPP4R1L HGNC ENSG00000124224 tier1 - - 39 0 0.00 55 4 6.78 PRRT4 0 genome.wustl.edu 37 7 127999980 127999980 + Silent SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 7 127999980 127999980 G A SNP PRRT4 ENST00000446477 human ensembl 74_37 -1 known silent c.66 p.G22 1.000 NULL NULL - no_errors PRRT4 HGNC ENSG00000224940 tier1 - - 97 0 0.00 138 41 22.65 REV3L 0 genome.wustl.edu 37 6 111693909 111693909 + Silent SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 111693909 111693909 G T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known silent c.5649 p.S1883 0.742 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 tier1 - - 68 0 0.00 71 4 5.33 RGP1 0 genome.wustl.edu 37 9 35751659 35751659 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 9 35751659 35751659 G T SNP RGP1 ENST00000456972 human ensembl 74_37 +1 known missense c.790 p.G264W 1.000 pfam_Rgp1 pfam_Rgp1 - no_errors RGP1 HGNC ENSG00000107185 tier1 - - 57 0 0.00 59 4 6.35 RIMS1 0 genome.wustl.edu 37 6 73110497 73110497 + RNA SNP A A G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 73110497 73110497 A G SNP RIMS1 ENST00000431478 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 31 0 0.00 18 13 41.94 RNF145 0 genome.wustl.edu 37 5 158595982 158595982 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 5 158595982 158595982 G T SNP RNF145 ENST00000518802 human ensembl 74_37 -1 known missense c.1110 p.F370L 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 97 0 0.00 74 5 6.33 RNF213 0 genome.wustl.edu 37 17 78318718 78318718 + Nonsense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 78318718 78318718 G T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known nonsense c.6583 p.E2195* 0.002 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 47 0 0.00 56 3 5.08 RPGR 0 genome.wustl.edu 37 X 38146735 38146735 + Missense_Mutation SNP T T C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada X 38146735 38146735 T C SNP RPGR ENST00000339363 human ensembl 74_37 -1 known missense c.2132 p.E711G 0.070 superfamily_RCC1/BLIP-II pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 tier1 - - 42 0 0.00 86 53 38.13 RPL29P30 0 genome.wustl.edu 37 15 71089126 71089126 + RNA SNP C C A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 15 71089126 71089126 C A SNP RPL29P30 ENST00000470368 human ensembl 74_37 -1 known rna NULL NULL 0.131 - - - no_errors RPL29P30 HGNC ENSG00000235420 tier1 - - 66 0 0.00 39 32 45.07 RTL1 0 genome.wustl.edu 37 14 101347177 101347177 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 14 101347177 101347177 C T SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known missense c.3949 p.A1317T 0.001 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 tier1 - - 82 0 0.00 94 46 32.62 SALL4 0 genome.wustl.edu 37 20 50405596 50405596 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 20 50405596 50405596 G A SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known missense c.2546 p.S849L 0.949 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 tier1 - - 39 0 0.00 19 16 45.71 SCN5A 0 genome.wustl.edu 37 3 38593046 38593046 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 3 38593046 38593046 G T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.4817 p.T1606N 0.994 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 41 0 0.00 46 4 8.00 SCN7A 0 genome.wustl.edu 37 2 167333974 167333974 + Frame_Shift_Del DEL T T - TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 2 167333974 167333974 T - DEL SCN7A ENST00000409855 human ensembl 74_37 -1 known frame_shift_del c.233 p.N78fs 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 tier1 51 0 0.00 32 3 8.57 SEMA3F 0 genome.wustl.edu 37 3 50225441 50225441 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 3 50225441 50225441 C T SNP SEMA3F ENST00000002829 human ensembl 74_37 +1 known missense c.2251 p.R751C 1.000 NULL pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3F HGNC ENSG00000001617 tier1 - - 16 0 0.00 4 8 66.67 SERINC2 0 genome.wustl.edu 37 1 31898638 31898638 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 31898638 31898638 G T SNP SERINC2 ENST00000373710 human ensembl 74_37 +1 known missense c.515 p.G172V 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC2 HGNC ENSG00000168528 23 0 0.00 24 2 7.69 SH3D19 0 genome.wustl.edu 37 4 152024005 152024005 + RNA SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 4 152024005 152024005 G T SNP SH3D19 ENST00000604922 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SH3D19 HGNC ENSG00000109686 tier1 - - 37 0 0.00 37 4 9.76 SI 0 genome.wustl.edu 37 3 164709256 164709256 + Missense_Mutation SNP T T C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 3 164709256 164709256 T C SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.4993 p.I1665V 0.915 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 - - 63 0 0.00 71 33 31.73 SIX6 0 genome.wustl.edu 37 14 60976547 60976547 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 14 60976547 60976547 G A SNP SIX6 ENST00000327720 human ensembl 74_37 +1 known missense c.431 p.R144H 0.996 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX6 HGNC ENSG00000184302 tier1 - - 56 0 0.00 35 19 35.19 SLC17A6 0 genome.wustl.edu 37 11 22363299 22363299 + Silent SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 11 22363299 22363299 C T SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known silent c.312 p.I104 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 tier1 - - 142 0 0.00 108 60 35.71 SLC22A10 0 genome.wustl.edu 37 11 63078478 63078479 + Frame_Shift_Ins INS - - A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 11 63078478 63078479 - A INS SLC22A10 ENST00000332793 human ensembl 74_37 +1 known frame_shift_ins c.1600_1599 p.N537fs 0.014:0.007 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 tier1 19 0 0.00 10 4 28.57 SLC2A6 0 genome.wustl.edu 37 9 136340725 136340725 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 9 136340725 136340725 G T SNP SLC2A6 ENST00000371899 human ensembl 74_37 -1 known missense c.571 p.L191M 0.525 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A6 HGNC ENSG00000160326 24 0 0.00 63 4 5.97 SNTA1 0 genome.wustl.edu 37 20 32026730 32026733 + Frame_Shift_Del DEL ACAG ACAG - TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 ACAG ACAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 20 32026730 32026733 ACAG - DEL SNTA1 ENST00000217381 human ensembl 74_37 -1 known frame_shift_del c.413_410 p.S137fs 1.000:1.000:0.001:1.000 pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTA1 HGNC ENSG00000101400 tier1 67 0 0.00 20 53 72.60 SPACA1 0 genome.wustl.edu 37 6 88775967 88775967 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 88775967 88775967 G T SNP SPACA1 ENST00000237201 human ensembl 74_37 +1 known missense c.799 p.V267L 0.022 NULL NULL - no_errors SPACA1 HGNC ENSG00000118434 tier1 - - 52 0 0.00 69 4 5.41 SPEF2 0 genome.wustl.edu 37 5 35705894 35705894 + Frame_Shift_Del DEL A A - TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 5 35705894 35705894 A 0 DEL SPEF2 ENST00000356031 human ensembl 74_37 +1 known frame_shift_del c.2649 p.K886fs 0.129 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 43 0 0.00 89 8 8.25 SPG11 0 genome.wustl.edu 37 15 44862814 44862815 + Frame_Shift_Del DEL GT GT - TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 15 44862814 44862815 GT - DEL SPG11 ENST00000261866 human ensembl 74_37 -1 known frame_shift_del c.6386_6385 p.T2129fs 1.000:1.000 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 tier1 35 0 0.00 29 6 17.14 SPOCD1 0 genome.wustl.edu 37 1 32280209 32280209 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 32280209 32280209 G T SNP SPOCD1 ENST00000360482 human ensembl 74_37 -1 known missense c.726 p.D242E 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 61 0 0.00 51 4 7.27 SPTLC1 0 genome.wustl.edu 37 9 94842356 94842356 + Silent SNP T T C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 9 94842356 94842356 T C SNP SPTLC1 ENST00000262554 human ensembl 74_37 -1 known silent c.369 p.A123 0.921 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC1 HGNC ENSG00000090054 tier1 - - 30 0 0.00 21 17 44.74 SSPO 0 genome.wustl.edu 37 7 149512264 149512264 + RNA SNP C C A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 7 149512264 149512264 C A SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 28 0 0.00 71 5 6.58 SUN2 0 genome.wustl.edu 37 22 39134598 39134598 + Silent SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 22 39134598 39134598 G T SNP SUN2 ENST00000216064 human ensembl 74_37 -1 known silent c.1941 p.A647 0.118 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 tier1 - - 68 0 0.00 53 4 6.90 SYNE1 0 genome.wustl.edu 37 6 152545638 152545638 + Missense_Mutation SNP G G C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 152545638 152545638 G C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.21513 p.D7171E 1.000 pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 66 0 0.00 55 22 28.57 TCEAL2 0 genome.wustl.edu 37 X 101381791 101381791 + RNA SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada X 101381791 101381791 G A SNP TCEAL2 ENST00000476749 human ensembl 74_37 +1 known rna NULL NULL 0.669 - - - no_errors TCEAL2 HGNC ENSG00000184905 tier1 - - 81 0 0.00 62 34 35.05 TCHHL1 0 genome.wustl.edu 37 1 152059329 152059329 + Nonsense_Mutation SNP C C A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 152059329 152059329 C A SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known nonsense c.829 p.E277* 0.009 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 24 0 0.00 52 3 5.45 TJP2 0 genome.wustl.edu 37 9 71869138 71869138 + Nonsense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 9 71869138 71869138 G T SNP TJP2 ENST00000539225 human ensembl 74_37 +1 known nonsense c.3514 p.E1172* 1.000 NULL pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 tier1 - - 57 0 0.00 56 4 6.67 TLL1 0 genome.wustl.edu 37 4 166915583 166915583 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 4 166915583 166915583 G T SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.412 p.G138W 1.000 pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 61 0 0.00 63 4 5.97 TMEM106A 0 genome.wustl.edu 37 17 41369714 41369714 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 41369714 41369714 G T SNP TMEM106A ENST00000331615 human ensembl 74_37 +1 known missense c.683 p.C228F 0.042 pfam_DUF1356_TMEM106 pfam_DUF1356_TMEM106 - no_errors TMEM106A HGNC ENSG00000184988 tier1 - - 34 0 0.00 49 4 7.55 TMEM59L 0 genome.wustl.edu 37 19 18726873 18726873 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 19 18726873 18726873 G T SNP TMEM59L ENST00000262817 human ensembl 74_37 +1 known missense c.497 p.G166V 1.000 pfam_Uncharacterised_TMEM59 pfam_Uncharacterised_TMEM59 - no_errors TMEM59L HGNC ENSG00000105696 43 0 0.00 66 5 7.04 TNC 0 genome.wustl.edu 37 9 117822230 117822230 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 9 117822230 117822230 C T SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.4085 p.G1362D 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 tier1 - - 56 0 0.00 61 4 6.15 TNPO1 0 genome.wustl.edu 37 5 72201229 72201229 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 5 72201229 72201229 G T SNP TNPO1 ENST00000337273 human ensembl 74_37 +1 known missense c.2689 p.G897C 1.000 NULL pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 tier1 - - 102 0 0.00 60 37 38.14 TOMM40 0 genome.wustl.edu 37 19 45406379 45406379 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 19 45406379 45406379 C T SNP TOMM40 ENST00000252487 human ensembl 74_37 +1 known missense c.1039 p.H347Y 1.000 pfam_Porin_Euk/Tom40 pfam_Porin_Euk/Tom40 - no_errors TOMM40 HGNC ENSG00000130204 tier1 - - 169 0 0.00 110 60 35.29 TP53 0 genome.wustl.edu 37 17 7579563 7579563 + Frame_Shift_Del DEL C C - TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 7579563 7579563 C - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.124 p.D42fs 0.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 35 0 0.00 12 59 83.10 TPTE 0 genome.wustl.edu 37 21 10910363 10910363 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 21 10910363 10910363 C T SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.1393 p.D465N 0.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 tier1 - - 127 0 0.00 230 23 9.09 TRDN 0 genome.wustl.edu 37 6 123786032 123786033 + Frame_Shift_Ins INS - - A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 123786032 123786033 - A INS TRDN ENST00000546248 human ensembl 74_37 -1 known frame_shift_ins c.890_889 p.S297fs 0.000:0.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 tier1 32 0 0.00 31 4 11.43 TRERF1 0 genome.wustl.edu 37 6 42211080 42211080 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 42211080 42211080 G T SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known missense c.2825 p.A942D 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 48 0 0.00 76 4 5.00 TRIM26 0 genome.wustl.edu 37 6 30166680 30166680 + Silent SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 30166680 30166680 G T SNP TRIM26 ENST00000437089 human ensembl 74_37 -1 known silent c.201 p.P67 0.324 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM26 HGNC ENSG00000234127 26 0 0.00 63 4 5.97 TRIM27 0 genome.wustl.edu 37 6 28876806 28876806 + Missense_Mutation SNP A A C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 6 28876806 28876806 A C SNP TRIM27 ENST00000377199 human ensembl 74_37 -1 known missense c.830 p.I277S 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM27 HGNC ENSG00000204713 tier1 - - 56 0 0.00 55 28 33.73 TRIM64C 0 genome.wustl.edu 37 11 49080635 49080635 + Missense_Mutation SNP C C A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 11 49080635 49080635 C A SNP TRIM64C ENST00000530230 human ensembl 74_37 -1 known missense c.30 p.Q10H 0.743 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM64C HGNC ENSG00000214891 tier1 - - 76 0 0.00 57 4 6.56 TRMT13 0 genome.wustl.edu 37 1 100609798 100609798 + RNA SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 1 100609798 100609798 G A SNP TRMT13 ENST00000493651 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TRMT13 HGNC ENSG00000122435 tier1 - - 22 0 0.00 16 8 33.33 UBN1 0 genome.wustl.edu 37 16 4927081 4927081 + Silent SNP C C G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 16 4927081 4927081 C G SNP UBN1 ENST00000262376 human ensembl 74_37 +1 known silent c.3234 p.A1078 0.972 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 tier1 - - 32 0 0.00 21 25 54.35 UFSP2 0 genome.wustl.edu 37 4 186324742 186324742 + Missense_Mutation SNP C C T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 4 186324742 186324742 C T SNP UFSP2 ENST00000264689 human ensembl 74_37 -1 known missense c.1229 p.G410E 1.000 pfam_Peptidase_C78_UfSP1/2 pfam_Peptidase_C78_UfSP1/2 - no_errors UFSP2 HGNC ENSG00000109775 tier1 - - 55 0 0.00 37 25 40.32 USP25 0 genome.wustl.edu 37 21 17191133 17191133 + Missense_Mutation SNP C C G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 21 17191133 17191133 C G SNP USP25 ENST00000400183 human ensembl 74_37 +1 known missense c.1048 p.H350D 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP25 HGNC ENSG00000155313 tier1 - - 65 0 0.00 53 32 37.65 USP32 0 genome.wustl.edu 37 17 58275786 58275786 + Missense_Mutation SNP A A T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 58275786 58275786 A T SNP USP32 ENST00000300896 human ensembl 74_37 -1 known missense c.3269 p.F1090Y 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 tier1 - - 58 0 0.00 80 34 29.82 USP37 0 genome.wustl.edu 37 2 219346828 219346828 + Silent SNP T T C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 2 219346828 219346828 T C SNP USP37 ENST00000258399 human ensembl 74_37 -1 known silent c.1800 p.P600 0.376 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP37 HGNC ENSG00000135913 tier1 - - 46 0 0.00 18 28 60.87 UVRAG 0 genome.wustl.edu 37 11 75694430 75694431 + Frame_Shift_Ins INS - - A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 11 75694430 75694431 0 A INS UVRAG ENST00000356136 human ensembl 74_37 +1 known frame_shift_ins c.701_700 p.S237fs 1.000:1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors UVRAG HGNC ENSG00000198382 47 0 0.00 110 8 6.78 WDR35 0 genome.wustl.edu 37 2 20130204 20130204 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 2 20130204 20130204 G T SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known missense c.3107 p.A1036E 0.998 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 tier1 - - 40 0 0.00 65 4 5.80 WWC1 0 genome.wustl.edu 37 5 167841561 167841561 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 5 167841561 167841561 G T SNP WWC1 ENST00000265293 human ensembl 74_37 +1 known missense c.1150 p.A384S 1.000 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC1 HGNC ENSG00000113645 tier1 - - 60 0 0.00 35 4 10.26 ZC2HC1C 0 genome.wustl.edu 37 14 75537509 75537509 + Missense_Mutation SNP C C A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 14 75537509 75537509 C A SNP ZC2HC1C ENST00000524913 human ensembl 74_37 +1 known missense c.233 p.T78K 0.000 NULL NULL - no_errors ZC2HC1C HGNC ENSG00000119703 tier1 - - 47 0 0.00 82 6 6.74 ZC3H12B 0 genome.wustl.edu 37 X 64721861 64721861 + Missense_Mutation SNP A A G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada X 64721861 64721861 A G SNP ZC3H12B ENST00000338957 human ensembl 74_37 +1 known missense c.1283 p.K428R 1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 tier1 - - 51 0 0.00 33 14 29.79 ZDHHC6 0 genome.wustl.edu 37 10 114205005 114205005 + Missense_Mutation SNP A A C TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 10 114205005 114205005 A C SNP ZDHHC6 ENST00000369405 human ensembl 74_37 -1 known missense c.190 p.W64G 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfam_SH3_2,superfamily_SH3_domain,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC6 HGNC ENSG00000023041 52 0 0.00 34 2 5.56 ZEB2 0 genome.wustl.edu 37 2 145157783 145157783 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 2 145157783 145157783 G A SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.971 p.S324F 1.000 smart_Znf_C2H2-like superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 tier1 - - 61 0 0.00 11 21 65.62 ZFP37 0 genome.wustl.edu 37 9 115806537 115806537 + Missense_Mutation SNP C C A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 9 115806537 115806537 C A SNP ZFP37 ENST00000553380 human ensembl 74_37 -1 known missense c.406 p.D136Y 0.836 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 ZFP37 HGNC ENSG00000136866 tier1 - - 26 0 0.00 34 18 34.62 ZMYM3 0 genome.wustl.edu 37 X 70460112 70460112 + RNA SNP A A T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada X 70460112 70460112 A T SNP ZMYM3 ENST00000489332 human ensembl 74_37 -1 known rna NULL NULL 0.026 - - - no_errors ZMYM3 HGNC ENSG00000147130 tier1 - - 11 0 0.00 9 8 47.06 ZNF430 0 genome.wustl.edu 37 19 21240141 21240141 + Nonsense_Mutation SNP A A T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 19 21240141 21240141 A T SNP ZNF430 ENST00000261560 human ensembl 74_37 +1 known nonsense c.1027 p.K343* 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF430 HGNC ENSG00000118620 tier1 - - 53 0 0.00 36 14 27.45 ZNF527 0 genome.wustl.edu 37 19 37879281 37879281 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 19 37879281 37879281 G T SNP ZNF527 ENST00000436120 human ensembl 74_37 +1 known missense c.330 p.E110D 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 ZNF527 HGNC ENSG00000189164 tier1 - - 70 0 0.00 65 4 5.80 ZNF608 0 genome.wustl.edu 37 5 123972613 123972614 + RNA INS - - A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 5 123972613 123972614 - A INS ZNF608 ENST00000513985 human ensembl 74_37 -1 known rna NULL NULL 0.291:0.200 - - - no_errors ZNF608 HGNC ENSG00000168916 tier1 27 0 0.00 22 6 21.43 ZNF707 0 genome.wustl.edu 37 8 144776548 144776548 + Missense_Mutation SNP G G A TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 8 144776548 144776548 G A SNP ZNF707 ENST00000358656 human ensembl 74_37 +1 known missense c.964 p.G322S 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF707 HGNC ENSG00000181135 tier1 - - 97 0 0.00 192 30 13.51 ZNF749 0 genome.wustl.edu 37 19 57956324 57956324 + Missense_Mutation SNP A A T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 19 57956324 57956324 A T SNP ZNF749 ENST00000334181 human ensembl 74_37 +1 known missense c.1808 p.Q603L 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF749 HGNC ENSG00000186230 69 0 0.00 49 4 7.55 ZNF789 0 genome.wustl.edu 37 7 99074101 99074101 + Missense_Mutation SNP A A G TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 7 99074101 99074101 A G SNP ZNF789 ENST00000331410 human ensembl 74_37 +1 known missense c.22 p.K8E 0.063 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF789 HGNC ENSG00000198556 tier1 - - 28 0 0.00 53 4 7.02 ZSWIM7 0 genome.wustl.edu 37 17 15897110 15897110 + RNA DEL A A - TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a787e4c-1d09-4304-88a5-b8de5394c710 d601820b-9c2c-4e15-80f2-d6ce2c280ada 17 15897110 15897110 A - DEL ZSWIM7 ENST00000475498 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ZSWIM7 HGNC ENSG00000214941 tier1 14 0 0.00 15 2 11.76