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 AASS 0 genome.wustl.edu 37 7 121741706 121741706 + Missense_Mutation SNP T T G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 121741706 121741706 T G SNP AASS ENST00000393376 human ensembl 74_37 -1 known missense c.1307 p.E436A 1.000 NULL pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 48 0 0.00 48 3 5.88 ABCC2 0 genome.wustl.edu 37 10 101591778 101591778 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 10 101591778 101591778 G T SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.3148 p.V1050F 0.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 tier1 - - 67 0 0.00 75 5 6.25 ABCC9 0 genome.wustl.edu 37 12 22089606 22089606 + Missense_Mutation SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 12 22089606 22089606 C A SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 tier1 - - 59 0 0.00 20 21 51.22 ABTB2 0 genome.wustl.edu 37 11 34194800 34194800 + Silent SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 34194800 34194800 G A SNP ABTB2 ENST00000435224 human ensembl 74_37 -1 known silent c.1299 p.Y433 0.791 superfamily_Histone-fold pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 tier1 - - 85 0 0.00 109 35 24.31 ACAN 0 genome.wustl.edu 37 15 89398756 89398756 + Missense_Mutation SNP A A C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 15 89398756 89398756 A C SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.2940 p.E980D 0.222 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 tier1 - - 65 0 0.00 31 16 34.04 ACSL1 0 genome.wustl.edu 37 4 185681562 185681562 + Nonsense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 4 185681562 185681562 G T SNP ACSL1 ENST00000281455 human ensembl 74_37 -1 known nonsense c.1731 p.Y577* 0.610 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL1 HGNC ENSG00000151726 tier1 - - 59 0 0.00 55 4 6.78 ADAM22 0 genome.wustl.edu 37 7 87792457 87792457 + Missense_Mutation SNP T T A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 87792457 87792457 T A SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known missense c.2038 p.L680M 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 tier1 - - 89 0 0.00 67 17 20.24 AFF4 0 genome.wustl.edu 37 5 132228047 132228047 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 5 132228047 132228047 C T SNP AFF4 ENST00000265343 human ensembl 74_37 -1 known missense c.2446 p.A816T 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 32 0 0.00 27 2 6.90 AGTPBP1 0 genome.wustl.edu 37 9 88247681 88247681 + Silent SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 9 88247681 88247681 C T SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known silent c.1947 p.T649 0.040 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 tier1 - - 96 0 0.00 40 24 37.50 AKAP4 0 genome.wustl.edu 37 X 49957183 49957183 + Missense_Mutation SNP T T G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 49957183 49957183 T G SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known missense c.2181 p.Q727H 0.985 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 tier1 - - 14 0 0.00 18 6 25.00 AKAP6 0 genome.wustl.edu 37 14 33291431 33291431 + Nonsense_Mutation SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 14 33291431 33291431 C A SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known nonsense c.4412 p.S1471* 0.994 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 89 0 0.00 27 2 6.90 ALG13 0 genome.wustl.edu 37 X 110996153 110996153 + RNA SNP C C G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 110996153 110996153 C G SNP ALG13 ENST00000474121 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ALG13 HGNC ENSG00000101901 tier1 - - 101 0 0.00 51 24 32.00 ALOX5 0 genome.wustl.edu 37 10 45938817 45938817 + RNA SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 10 45938817 45938817 C T SNP ALOX5 ENST00000481117 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ALOX5 HGNC ENSG00000012779 tier1 - - 61 0 0.00 31 18 36.73 AMACR 0 genome.wustl.edu 37 5 33989488 33989488 + Missense_Mutation SNP A A C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 5 33989488 33989488 A C SNP AMACR ENST00000335606 human ensembl 74_37 -1 known missense c.859 p.F287V 1.000 superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors AMACR HGNC ENSG00000242110 tier1 - - 52 0 0.00 25 9 26.47 ANKHD1 0 genome.wustl.edu 37 5 139844263 139844263 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 5 139844263 139844263 C T SNP ANKHD1 ENST00000297183 human ensembl 74_37 +1 known missense c.1684 p.H562Y 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 tier1 - - 60 0 0.00 73 11 13.10 ANKRD26P1 0 genome.wustl.edu 37 16 46533886 46533886 + RNA DEL T T - TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 16 46533886 46533886 T - DEL ANKRD26P1 ENST00000566201 human ensembl 74_37 -1 known rna NULL NULL 0.053 - - - no_errors ANKRD26P1 HGNC ENSG00000261239 tier1 25 0 0.00 16 11 40.74 APOBEC4 0 genome.wustl.edu 37 1 183617853 183617853 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 183617853 183617853 G T SNP APOBEC4 ENST00000308641 human ensembl 74_37 -1 known missense c.64 p.L22I 0.657 NULL pfam_APOBEC_N - no_errors APOBEC4 HGNC ENSG00000173627 tier1 - - 53 0 0.00 64 5 7.25 ARHGAP19 0 genome.wustl.edu 37 10 98985816 98985816 + RNA SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 10 98985816 98985816 G T SNP ARHGAP19 ENST00000487035 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARHGAP19 HGNC ENSG00000213390 tier1 - - 45 0 0.00 16 3 15.79 ARHGAP28 0 genome.wustl.edu 37 18 6887184 6887184 + Silent SNP A A G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 18 6887184 6887184 A G SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known silent c.1482 p.Q494 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 tier1 - - 41 0 0.00 45 6 11.76 ARHGAP32 0 genome.wustl.edu 37 11 128840479 128840479 + Silent SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 128840479 128840479 G T SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known silent c.4587 p.S1529 0.797 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 tier1 - - 88 0 0.00 51 4 7.27 ARMCX4 0 genome.wustl.edu 37 X 100748610 100748610 + Missense_Mutation SNP A A T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 100748610 100748610 A T SNP ARMCX4 ENST00000423738 human ensembl 74_37 +1 putative missense c.5034 p.Q1678H 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 tier1 - - 82 0 0.00 88 16 15.38 ARNTL 0 genome.wustl.edu 37 11 13378285 13378285 + Splice_Site SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 13378285 13378285 G T SNP ARNTL ENST00000403290 human ensembl 74_37 +1 known splice_site c.141-1 e2-1 1.000 - - - no_errors ARNTL HGNC ENSG00000133794 tier1 - - 52 0 0.00 58 4 6.45 ATM 0 genome.wustl.edu 37 11 108106561 108106561 + Nonsense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 108106561 108106561 G T SNP ATM ENST00000278616 human ensembl 74_37 +1 known nonsense c.496 p.E166* 1.000 NULL pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 tier1 - - 75 0 0.00 53 4 7.02 ATP11C 0 genome.wustl.edu 37 X 138884448 138884448 + Silent SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 138884448 138884448 G T SNP ATP11C ENST00000327569 human ensembl 74_37 -1 known silent c.615 p.I205 0.996 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11C HGNC ENSG00000101974 tier1 - - 65 0 0.00 48 4 7.69 ATP1A2 0 genome.wustl.edu 37 1 160093091 160093091 + Missense_Mutation SNP A A C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 160093091 160093091 A C SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.266 p.K89T 1.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A2 HGNC ENSG00000018625 tier1 - - 88 0 0.00 62 30 32.61 ATP1A4 0 genome.wustl.edu 37 1 160134010 160134010 + Silent SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 160134010 160134010 G T SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known silent c.843 p.L281 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 tier1 - - 41 0 0.00 62 4 6.06 ATP4A 0 genome.wustl.edu 37 19 36041947 36041947 + Silent SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 19 36041947 36041947 G A SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known silent c.2952 p.P984 0.233 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 tier1 - - 61 0 0.00 24 5 17.24 B4GALT5 0 genome.wustl.edu 37 20 48252991 48252991 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 20 48252991 48252991 G A SNP B4GALT5 ENST00000371711 human ensembl 74_37 -1 known missense c.1025 p.A342V 0.203 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT5 HGNC ENSG00000158470 55 0 0.00 57 4 6.56 BCL9 0 genome.wustl.edu 37 1 147091363 147091363 + Nonsense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 147091363 147091363 G T SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known nonsense c.1402 p.E468* 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 74 0 0.00 29 2 6.45 BMP7 0 genome.wustl.edu 37 20 55803343 55803343 + Missense_Mutation SNP A A C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 20 55803343 55803343 A C SNP BMP7 ENST00000395863 human ensembl 74_37 -1 known missense c.553 p.F185V 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP7 HGNC ENSG00000101144 tier1 - - 43 0 0.00 37 6 13.95 BMP8B 0 genome.wustl.edu 37 1 40230327 40230327 + Missense_Mutation SNP A A G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 40230327 40230327 A G SNP BMP8B ENST00000372827 human ensembl 74_37 -1 known missense c.836 p.L279P 1.000 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP8B HGNC ENSG00000116985 tier1 - - 109 0 0.00 108 34 23.94 BMS1 0 genome.wustl.edu 37 10 43292443 43292443 + Missense_Mutation SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 10 43292443 43292443 C A SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known missense c.1751 p.A584D 0.984 superfamily_P-loop_NTPase pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 tier1 - - 56 0 0.00 27 10 27.03 BRINP1 0 genome.wustl.edu 37 9 122004469 122004469 + Missense_Mutation SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 9 122004469 122004469 C A SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.435 p.M145I 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 72 0 0.00 78 9 10.34 BSN 0 genome.wustl.edu 37 3 49692822 49692822 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 49692822 49692822 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.5833 p.R1945W 0.660 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 35 0 0.00 31 3 8.82 BVES 0 genome.wustl.edu 37 6 105573325 105573325 + Silent SNP A A C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 6 105573325 105573325 A C SNP BVES ENST00000314641 human ensembl 74_37 -1 known silent c.480 p.T160 0.002 pfam_Popeye_prot,superfamily_cNMP-bd-like pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors BVES HGNC ENSG00000112276 tier1 - - 53 0 0.00 46 32 40.51 C10orf112 0 genome.wustl.edu 37 10 19498476 19498476 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 10 19498476 19498476 G A SNP C10orf112 ENST00000454679 human ensembl 74_37 +1 known missense c.746 p.R249H 0.995 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 tier1 - - 72 0 0.00 34 6 15.00 C10orf112 0 genome.wustl.edu 37 10 19571969 19571969 + Missense_Mutation SNP A A G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 10 19571969 19571969 A G SNP C10orf112 ENST00000454679 human ensembl 74_37 +1 known missense c.1166 p.E389G 0.988 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 tier1 - - 22 0 0.00 13 10 43.48 C10orf113 0 genome.wustl.edu 37 10 21435419 21435419 + Silent SNP T T G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 10 21435419 21435419 T G SNP C10orf113 ENST00000534331 human ensembl 74_37 -1 known silent c.19 p.R7 0.000 NULL NULL - no_errors C10orf113 HGNC ENSG00000204683 tier1 - - 64 0 0.00 63 7 10.00 C16orf58 0 genome.wustl.edu 37 16 31519197 31519197 + Silent SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 16 31519197 31519197 C T SNP C16orf58 ENST00000327237 human ensembl 74_37 -1 known silent c.303 p.A101 0.984 pfam_RUS2/WXR1 pfam_RUS2/WXR1 - no_errors C16orf58 HGNC ENSG00000140688 69 0 0.00 50 4 7.27 C1orf101 0 genome.wustl.edu 37 1 244780851 244780851 + Silent SNP T T G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 244780851 244780851 T G SNP C1orf101 ENST00000366531 human ensembl 74_37 +1 known silent c.2058 p.S686 0.572 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 tier1 - - 75 0 0.00 45 34 43.04 C1orf198 0 genome.wustl.edu 37 1 231004079 231004079 + Silent SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 231004079 231004079 C T SNP C1orf198 ENST00000366663 human ensembl 74_37 -1 known silent c.180 p.R60 1.000 NULL NULL - no_errors C1orf198 HGNC ENSG00000119280 28 0 0.00 59 4 6.35 CACNA1C 0 genome.wustl.edu 37 12 2706457 2706457 + Splice_Site SNP T T G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 12 2706457 2706457 T G SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known splice_site c.2853+2 e21+2 1.000 - - - no_errors CACNA1C HGNC ENSG00000151067 tier1 - - 107 0 0.00 99 9 8.33 CAPRIN2 0 genome.wustl.edu 37 12 30862907 30862907 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 12 30862907 30862907 G T SNP CAPRIN2 ENST00000251071 human ensembl 74_37 -1 known missense c.3313 p.H1105N 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 64 0 0.00 52 4 7.14 CASZ1 0 genome.wustl.edu 37 1 10718606 10718606 + Silent SNP G G C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 10718606 10718606 G C SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.1368 p.A456 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 tier1 - - 45 0 0.00 86 5 5.43 CASZ1 0 genome.wustl.edu 37 1 10718611 10718611 + Missense_Mutation SNP G G C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 10718611 10718611 G C SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.1363 p.P455A 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 tier1 - - 41 0 0.00 88 5 5.38 CASZ1 0 genome.wustl.edu 37 1 10713952 10713952 + Missense_Mutation SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 10713952 10713952 C A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.2162 p.S721I 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 18 0 0.00 18 2 10.00 CASZ1 0 genome.wustl.edu 37 1 10715741 10715741 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 10715741 10715741 G T SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.1630 p.L544I 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 68 0 0.00 73 4 5.19 CCDC122 0 genome.wustl.edu 37 13 44442890 44442890 + Missense_Mutation SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 13 44442890 44442890 C A SNP CCDC122 ENST00000281508 human ensembl 74_37 -1 known missense c.96 p.K32N 0.999 NULL NULL - no_errors CCDC122 HGNC ENSG00000151773 tier1 - - 29 0 0.00 55 4 6.78 CDC25A 0 genome.wustl.edu 37 3 48228201 48228201 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 48228201 48228201 G A SNP CDC25A ENST00000302506 human ensembl 74_37 -1 known missense c.239 p.T80I 0.812 NULL 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 63 0 0.00 71 4 5.33 CDK6 0 genome.wustl.edu 37 7 92247520 92247520 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 92247520 92247520 C T SNP CDK6 ENST00000265734 human ensembl 74_37 -1 known missense c.700 p.V234M 0.931 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_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 CDK6 HGNC ENSG00000105810 tier1 - - 76 0 0.00 50 4 7.41 CHRM5 0 genome.wustl.edu 37 15 34356456 34356456 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 15 34356456 34356456 G T SNP CHRM5 ENST00000383263 human ensembl 74_37 +1 known missense c.1538 p.R513L 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M5_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM5 HGNC ENSG00000184984 tier1 - - 49 0 0.00 14 11 44.00 CHST3 0 genome.wustl.edu 37 10 73767882 73767882 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 10 73767882 73767882 C T SNP CHST3 ENST00000373115 human ensembl 74_37 +1 known missense c.1093 p.R365C 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 23 0 0.00 26 2 7.14 CLASP1 0 genome.wustl.edu 37 2 122120766 122120766 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 122120766 122120766 G T SNP CLASP1 ENST00000263710 human ensembl 74_37 -1 known missense c.4188 p.H1396Q 0.999 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 tier1 - - 61 0 0.00 71 4 5.33 CLSTN3 0 genome.wustl.edu 37 12 7310201 7310201 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 12 7310201 7310201 G T SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known missense c.2644 p.G882W 0.908 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 tier1 - - 34 0 0.00 24 5 17.24 CNTLN 0 genome.wustl.edu 37 9 17340914 17340914 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 9 17340914 17340914 G T SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.1734 p.E578D 1.000 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 73 0 0.00 49 3 5.77 CNTN3 0 genome.wustl.edu 37 3 74334638 74334638 + Missense_Mutation SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 74334638 74334638 C A SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.2522 p.R841L 0.986 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 46 0 0.00 36 2 5.26 CNTN4 0 genome.wustl.edu 37 3 3072641 3072641 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 3072641 3072641 G A SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.1765 p.A589T 0.677 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,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 CNTN4 HGNC ENSG00000144619 tier1 - - 50 0 0.00 49 4 7.55 CNTNAP2 0 genome.wustl.edu 37 7 147600656 147600656 + Splice_Site SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 147600656 147600656 G T SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known splice_site c.2099-1 e14-1 1.000 - - - no_errors CNTNAP2 HGNC ENSG00000174469 35 0 0.00 35 2 5.41 CNTNAP4 0 genome.wustl.edu 37 16 76587789 76587789 + Missense_Mutation SNP T T A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 16 76587789 76587789 T A SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.3715 p.S1239T 1.000 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 tier1 - - 59 0 0.00 33 9 21.43 COG7 0 genome.wustl.edu 37 16 23400367 23400367 + Silent SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 16 23400367 23400367 C T SNP COG7 ENST00000307149 human ensembl 74_37 -1 known silent c.2187 p.P729 0.027 pfam_COG7 pfam_COG7 - no_errors COG7 HGNC ENSG00000168434 tier1 - - 53 0 0.00 36 4 10.00 COL16A1 0 genome.wustl.edu 37 1 32162599 32162599 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 32162599 32162599 G T SNP COL16A1 ENST00000271069 human ensembl 74_37 -1 known missense c.829 p.R277S 0.998 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 tier1 - - 43 0 0.00 55 4 6.78 COL4A2-AS2 0 genome.wustl.edu 37 13 111109568 111109568 + RNA SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 13 111109568 111109568 G A SNP COL4A2-AS2 ENST00000458403 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COL4A2-AS2 HGNC ENSG00000224821 tier1 - - 36 0 0.00 85 25 22.73 COL5A1 0 genome.wustl.edu 37 9 137734078 137734078 + Missense_Mutation SNP A A G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 9 137734078 137734078 A G SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.5446 p.M1816V 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C 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 - - 84 0 0.00 58 7 10.77 COL5A2 0 genome.wustl.edu 37 2 189949926 189949926 + Nonsense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 189949926 189949926 G T SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known nonsense c.758 p.S253* 0.372 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 tier1 - - 137 0 0.00 63 5 7.35 CPA6 0 genome.wustl.edu 37 8 68658271 68658271 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 8 68658271 68658271 G T SNP CPA6 ENST00000297770 human ensembl 74_37 -1 known missense c.94 p.L32I 1.000 superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA6 HGNC ENSG00000165078 tier1 - - 47 0 0.00 27 13 32.50 CPED1 0 genome.wustl.edu 37 7 120740003 120740003 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 120740003 120740003 C T SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known missense c.773 p.P258L 0.002 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 tier1 - - 62 0 0.00 42 13 23.64 CSMD1 0 genome.wustl.edu 37 8 3072198 3072198 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 8 3072198 3072198 G T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.4691 p.A1564D 1.000 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 41 0 0.00 35 4 10.26 CSMD1 0 genome.wustl.edu 37 8 3087592 3087592 + Missense_Mutation SNP A A C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 8 3087592 3087592 A C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.4318 p.F1440V 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 61 0 0.00 38 20 34.48 CTBP2 0 genome.wustl.edu 37 10 126678147 126678147 + Silent SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 10 126678147 126678147 C T SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known silent c.2898 p.A966 0.989 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 tier1 rs76963654 - 41 0 0.00 72 5 6.49 CTDSPL 0 genome.wustl.edu 37 3 37988615 37988615 + Silent SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 37988615 37988615 C T SNP CTDSPL ENST00000273179 human ensembl 74_37 +1 known silent c.147 p.C49 1.000 NULL pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSPL HGNC ENSG00000144677 tier1 rs1803396 - 32 0 0.00 37 4 9.76 CUL9 0 genome.wustl.edu 37 6 43152426 43152426 + Silent SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 6 43152426 43152426 G A SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known silent c.378 p.A126 1.000 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 59 0 0.00 32 3 8.57 CXADRP3 0 genome.wustl.edu 37 18 14478052 14478052 + RNA SNP T T G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 18 14478052 14478052 T G SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 0.820 - - - no_errors CXADRP3 HGNC ENSG00000265766 13 0 0.00 19 5 20.83 CYLC2 0 genome.wustl.edu 37 9 105765462 105765462 + Missense_Mutation SNP T T C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 9 105765462 105765462 T C SNP CYLC2 ENST00000374798 human ensembl 74_37 +1 known missense c.97 p.F33L 1.000 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 tier1 - - 112 0 0.00 67 12 15.19 CYP21A2 0 genome.wustl.edu 37 6 32007600 32007600 + Silent SNP G G C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 6 32007600 32007600 G C SNP CYP21A2 ENST00000418967 human ensembl 74_37 +1 known silent c.726 p.L242 0.943 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP21A2 HGNC ENSG00000231852 tier1 - - 63 0 0.00 53 38 41.76 CYP2W1 0 genome.wustl.edu 37 7 1024625 1024625 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 1024625 1024625 G A SNP CYP2W1 ENST00000308919 human ensembl 74_37 +1 known missense c.377 p.R126H 0.987 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2W1 HGNC ENSG00000073067 tier1 - - 59 0 0.00 61 5 7.58 DBX2 0 genome.wustl.edu 37 12 45444438 45444438 + Silent SNP T T C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 12 45444438 45444438 T C SNP DBX2 ENST00000332700 human ensembl 74_37 -1 known silent c.273 p.Q91 0.982 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DBX2 HGNC ENSG00000185610 tier1 - - 20 0 0.00 19 8 29.63 DCN 0 genome.wustl.edu 37 12 91539903 91539903 + Missense_Mutation SNP C C G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 12 91539903 91539903 C G SNP DCN ENST00000052754 human ensembl 74_37 -1 known missense c.1012 p.E338Q 1.000 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors DCN HGNC ENSG00000011465 tier1 - - 72 0 0.00 60 12 16.67 DEDD2 0 genome.wustl.edu 37 19 42721106 42721106 + Silent SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 19 42721106 42721106 C T SNP DEDD2 ENST00000595337 human ensembl 74_37 -1 known silent c.54 p.L18 1.000 NULL pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED - no_errors DEDD2 HGNC ENSG00000160570 tier1 - - 50 0 0.00 23 11 32.35 DLEC1 0 genome.wustl.edu 37 3 38134345 38134345 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 38134345 38134345 G T SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.1730 p.C577F 1.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 tier1 - - 50 0 0.00 53 4 7.02 DNER 0 genome.wustl.edu 37 2 230231593 230231593 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 230231593 230231593 C T SNP DNER ENST00000341772 human ensembl 74_37 -1 known missense c.2098 p.A700T 1.000 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 tier1 - - 29 0 0.00 6 6 50.00 DNHD1 0 genome.wustl.edu 37 11 6519744 6519744 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 6519744 6519744 G T SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.299 p.G100V 0.147 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 tier1 - - 31 0 0.00 28 4 12.12 DRP2 0 genome.wustl.edu 37 X 100509876 100509876 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 100509876 100509876 G A SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known missense c.2143 p.A715T 0.876 pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 tier1 rs201156733 - 90 0 0.00 86 14 14.00 DSCR4 0 genome.wustl.edu 37 21 39325210 39325210 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 21 39325210 39325210 G A SNP DSCR4 ENST00000398948 human ensembl 74_37 -1 putative missense c.329 p.A110V 0.000 NULL NULL - no_errors DSCR4 HGNC ENSG00000184029 tier1 - - 43 0 0.00 44 8 15.38 DUOX1 0 genome.wustl.edu 37 15 45444498 45444498 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 15 45444498 45444498 G A SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known missense c.3208 p.A1070T 0.992 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 25 0 0.00 26 2 7.14 EDC4 0 genome.wustl.edu 37 16 67911221 67911221 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 16 67911221 67911221 G A SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known missense c.553 p.A185T 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 46 0 0.00 30 2 6.25 ELN 0 genome.wustl.edu 37 7 73452037 73452037 + Missense_Mutation SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 73452037 73452037 C A SNP ELN ENST00000358929 human ensembl 74_37 +1 known missense c.164 p.A55E 0.045 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 18 0 0.00 26 4 13.33 EN1 0 genome.wustl.edu 37 2 119600699 119600699 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 119600699 119600699 G A SNP EN1 ENST00000295206 human ensembl 74_37 -1 known missense c.994 p.R332W 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4 - no_errors EN1 HGNC ENSG00000163064 52 0 0.00 52 3 5.45 ENAH 0 genome.wustl.edu 37 1 225705664 225705664 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 225705664 225705664 G T SNP ENAH ENST00000284563 human ensembl 74_37 -1 novel missense c.888 p.N296K 0.014 NULL pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors ENAH HGNC ENSG00000154380 tier1 - - 72 0 0.00 78 5 6.02 ENSG00000244306 0 genome.wustl.edu 37 14 19856897 19856897 + RNA SNP T T G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 14 19856897 19856897 T G SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 181 0 0.00 145 12 7.59 ENSG00000250026 0 genome.wustl.edu 37 4 69083673 69083673 + RNA SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 4 69083673 69083673 G A SNP ENSG00000250026 ENST00000504453 human ensembl 74_37 -1 known rna NULL NULL 0.499 - - - no_errors RP11-646E20.6 Clone_based_vega_gene ENSG00000250026 tier1 - - 46 0 0.00 35 17 32.69 ENSG00000259648 0 genome.wustl.edu 37 14 68082826 68082827 + RNA INS - - T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 14 68082826 68082827 - T INS ENSG00000259648 ENST00000559968 human ensembl 74_37 +1 known rna NULL NULL 0.981:0.976 - - - no_errors RP11-643G16.4 Clone_based_vega_gene ENSG00000259648 tier1 19 0 0.00 12 3 20.00 ENSG00000261460 0 genome.wustl.edu 37 15 72643437 72643437 + RNA SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 15 72643437 72643437 G A SNP ENSG00000261460 ENST00000570175 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-106M3.3 Clone_based_vega_gene ENSG00000261460 tier1 - - 34 0 0.00 16 6 27.27 ENSG00000266560 0 genome.wustl.edu 37 X 151283560 151283560 + RNA SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 151283560 151283560 G A SNP ENSG00000266560 ENST00000509345 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-1007I13.4 Clone_based_vega_gene ENSG00000266560 tier1 - - 97 0 0.00 58 21 26.58 EP400 0 genome.wustl.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 12 132547093 132547094 - CAG INS EP400 ENST00000333577 human ensembl 74_37 +1 known in_frame_ins c.8289_8290 p.2767in_frame_insQ 0.900:0.920 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 tier1 29 0 0.00 25 4 13.79 EPHA1 0 genome.wustl.edu 37 7 143088619 143088619 + Silent SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 143088619 143088619 C T SNP EPHA1 ENST00000275815 human ensembl 74_37 -1 known silent c.2862 p.T954 0.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM 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,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,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 EPHA1 HGNC ENSG00000146904 57 0 0.00 16 3 15.79 ERRFI1 0 genome.wustl.edu 37 1 8074382 8074382 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 8074382 8074382 G A SNP ERRFI1 ENST00000377482 human ensembl 74_37 -1 known missense c.277 p.P93S 0.997 NULL pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6 - no_errors ERRFI1 HGNC ENSG00000116285 tier1 - - 73 0 0.00 50 4 7.41 ESPNP 0 genome.wustl.edu 37 1 17026466 17026466 + RNA SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 17026466 17026466 C T SNP ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ESPNP HGNC ENSG00000268869 8 0 0.00 28 5 15.15 EXOC2 0 genome.wustl.edu 37 6 610147 610147 + Silent SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 6 610147 610147 C T SNP EXOC2 ENST00000230449 human ensembl 74_37 -1 known silent c.693 p.T231 0.877 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 tier1 - - 70 0 0.00 48 47 49.47 EXOSC10 0 genome.wustl.edu 37 1 11141254 11141254 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 11141254 11141254 G T SNP EXOSC10 ENST00000376936 human ensembl 74_37 -1 known missense c.1322 p.T441N 1.000 pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom - no_errors EXOSC10 HGNC ENSG00000171824 tier1 - - 34 0 0.00 59 4 6.35 EYA4 0 genome.wustl.edu 37 6 133846296 133846296 + Silent SNP A A G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 6 133846296 133846296 A G SNP EYA4 ENST00000367895 human ensembl 74_37 +1 known silent c.1743 p.K581 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 tier1 - - 125 0 0.00 103 6 5.50 FAM133A 0 genome.wustl.edu 37 X 92964531 92964531 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 92964531 92964531 G A SNP FAM133A ENST00000322139 human ensembl 74_37 +1 known missense c.113 p.R38K 0.996 NULL NULL - no_errors FAM133A HGNC ENSG00000179083 tier1 - - 148 0 0.00 78 11 12.36 FAM81B 0 genome.wustl.edu 37 5 94749806 94749806 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 5 94749806 94749806 G A SNP FAM81B ENST00000283357 human ensembl 74_37 +1 known missense c.449 p.R150Q 0.023 NULL NULL - no_errors FAM81B HGNC ENSG00000153347 tier1 - - 49 0 0.00 30 12 28.57 FASN 0 genome.wustl.edu 37 17 80041189 80041189 + Silent SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 17 80041189 80041189 G T SNP FASN ENST00000306749 human ensembl 74_37 -1 known silent c.5454 p.I1818 0.755 smart_PKS_ER pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 82 0 0.00 48 4 7.69 FBXO31 0 genome.wustl.edu 37 16 87367614 87367614 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 16 87367614 87367614 G A SNP FBXO31 ENST00000565593 human ensembl 74_37 -1 known missense c.401 p.A134V 0.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO31 HGNC ENSG00000103264 tier1 rs144062312 - 27 0 0.00 16 8 33.33 FGFRL1 0 genome.wustl.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 4 1019055 1019056 CA - DEL FGFRL1 ENST00000264748 human ensembl 74_37 +1 known frame_shift_del c.1435_1436 p.T482fs 1.000:1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FGFRL1 HGNC ENSG00000127418 tier1 28 0 0.00 25 4 13.79 FILIP1 0 genome.wustl.edu 37 6 76072624 76072624 + Missense_Mutation SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 6 76072624 76072624 C A SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known missense c.286 p.D96Y 1.000 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 tier1 - - 40 0 0.00 59 4 6.35 FLT1 0 genome.wustl.edu 37 13 28885780 28885780 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 13 28885780 28885780 G T SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known missense c.3582 p.F1194L 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 tier1 - - 79 0 0.00 71 4 5.33 FMO5 0 genome.wustl.edu 37 1 146680547 146680547 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 146680547 146680547 C T SNP FMO5 ENST00000254090 human ensembl 74_37 -1 known missense c.697 p.D233N 0.995 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC ENSG00000131781 tier1 - - 60 0 0.00 57 12 17.39 FNDC3B 0 genome.wustl.edu 37 3 171969173 171969173 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 171969173 171969173 C T SNP FNDC3B ENST00000336824 human ensembl 74_37 +1 known missense c.632 p.S211F 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 tier1 - - 83 0 0.00 45 6 11.76 GALNT18 0 genome.wustl.edu 37 11 11470387 11470387 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 11470387 11470387 C T SNP GALNT18 ENST00000227756 human ensembl 74_37 -1 known missense c.332 p.R111H 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT18 HGNC ENSG00000110328 tier1 - - 137 0 0.00 108 6 5.26 GALNTL6 0 genome.wustl.edu 37 4 173730571 173730571 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 4 173730571 173730571 C T SNP GALNTL6 ENST00000506823 human ensembl 74_37 +1 known missense c.613 p.R205C 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 tier1 - - 58 0 0.00 36 27 42.86 GDF9 0 genome.wustl.edu 37 5 132197864 132197864 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 5 132197864 132197864 G A SNP GDF9 ENST00000296875 human ensembl 74_37 -1 known missense c.782 p.P261L 1.000 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF9 HGNC ENSG00000164404 tier1 - - 78 0 0.00 62 4 6.06 GHRL 0 genome.wustl.edu 37 3 10331825 10331825 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 10331825 10331825 C T SNP GHRL ENST00000335542 human ensembl 74_37 -1 known missense c.40 p.G14S 0.986 NULL pfam_Motilin_assoc,pfam_Motilin_ghrelin,prints_Preproghrelin - no_errors GHRL HGNC ENSG00000157017 tier1 - - 23 0 0.00 17 14 45.16 GJA5 0 genome.wustl.edu 37 1 147230837 147230837 + Silent SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 147230837 147230837 G T SNP GJA5 ENST00000271348 human ensembl 74_37 -1 known silent c.510 p.G170 1.000 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40 - no_errors GJA5 HGNC ENSG00000143140 tier1 - - 26 0 0.00 14 7 33.33 GMIP 0 genome.wustl.edu 37 19 19746376 19746376 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 19 19746376 19746376 G T SNP GMIP ENST00000203556 human ensembl 74_37 -1 known missense c.1408 p.L470M 0.919 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 tier1 - - 31 0 0.00 38 4 9.52 GNAI1 0 genome.wustl.edu 37 7 79818445 79818445 + Missense_Mutation SNP A A C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 79818445 79818445 A C SNP GNAI1 ENST00000351004 human ensembl 74_37 +1 known missense c.201 p.K67N 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Fungi_Gprotein_alpha pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha - no_errors GNAI1 HGNC ENSG00000127955 tier1 - - 53 0 0.00 45 12 21.05 GP5 0 genome.wustl.edu 37 3 194118889 194118889 + Silent SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 194118889 194118889 C T SNP GP5 ENST00000323007 human ensembl 74_37 -1 known silent c.123 p.A41 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 27 0 0.00 18 4 18.18 GPNMB 0 genome.wustl.edu 37 7 23293803 23293803 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 23293803 23293803 C T SNP GPNMB ENST00000381990 human ensembl 74_37 +1 known missense c.239 p.A80V 0.987 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors GPNMB HGNC ENSG00000136235 91 0 0.00 76 4 5.00 GPR56 0 genome.wustl.edu 37 16 57685510 57685510 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 16 57685510 57685510 G A SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known missense c.463 p.A155T 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR56 HGNC ENSG00000205336 28 0 0.00 25 2 7.41 GRIA4 0 genome.wustl.edu 37 11 105781206 105781206 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 105781206 105781206 G T SNP GRIA4 ENST00000282499 human ensembl 74_37 +1 known missense c.1204 p.V402L 0.571 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 105 0 0.00 73 4 5.19 GRIK3 0 genome.wustl.edu 37 1 37267539 37267539 + Silent SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 37267539 37267539 G A SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known silent c.2673 p.V891 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 tier1 - - 38 0 0.00 18 35 66.04 GRIP1 0 genome.wustl.edu 37 12 66773066 66773066 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 12 66773066 66773066 G T SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known missense c.2615 p.A872D 0.911 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 tier1 - - 75 0 0.00 48 4 7.69 GRM7 0 genome.wustl.edu 37 3 6903327 6903327 + Silent SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 6903327 6903327 C T SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known silent c.252 p.Y84 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 tier1 - - 79 0 0.00 28 17 37.78 GTDC1 0 genome.wustl.edu 37 2 144969108 144969108 + RNA SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 144969108 144969108 G T SNP GTDC1 ENST00000467352 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors GTDC1 HGNC ENSG00000121964 tier1 - - 101 0 0.00 74 4 5.13 HDX 0 genome.wustl.edu 37 X 83724243 83724243 + Missense_Mutation SNP T T G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 83724243 83724243 T G SNP HDX ENST00000297977 human ensembl 74_37 -1 known missense c.488 p.K163T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HDX HGNC ENSG00000165259 tier1 - - 51 0 0.00 82 7 7.87 HERC2P3 0 genome.wustl.edu 37 15 20588507 20588507 + RNA SNP A A T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 15 20588507 20588507 A T SNP HERC2P3 ENST00000428453 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 tier1 - - 40 0 0.00 46 4 8.00 HERC2P3 0 genome.wustl.edu 37 15 20657819 20657819 + RNA SNP A A T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 15 20657819 20657819 A T SNP HERC2P3 ENST00000437318 human ensembl 74_37 -1 known rna NULL NULL 0.257 - - - no_errors HERC2P3 HGNC ENSG00000180229 tier1 - - 241 0 0.00 123 63 33.87 HFM1 0 genome.wustl.edu 37 1 91779035 91779035 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 91779035 91779035 G T SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known missense c.3262 p.Q1088K 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 tier1 - - 42 0 0.00 50 12 19.35 HMGB3 0 genome.wustl.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 150156360 150156360 G A SNP HMGB3 ENST00000325307 human ensembl 74_37 +1 known silent c.576 p.E192 0.985 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB3 HGNC ENSG00000029993 tier1 - - 58 0 0.00 37 5 11.90 HRH2 0 genome.wustl.edu 37 5 175110582 175110582 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 5 175110582 175110582 C T SNP HRH2 ENST00000377291 human ensembl 74_37 +1 known missense c.346 p.R116W 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt - no_errors HRH2 HGNC ENSG00000113749 41 0 0.00 30 3 9.09 HUWE1 0 genome.wustl.edu 37 X 53561025 53561025 + Missense_Mutation SNP T T C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 53561025 53561025 T C SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.12965 p.K4322R 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 86 0 0.00 49 4 7.55 IGF2BP3 0 genome.wustl.edu 37 7 23401175 23401175 + Missense_Mutation SNP A A C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 23401175 23401175 A C SNP IGF2BP3 ENST00000258729 human ensembl 74_37 -1 known missense c.379 p.S127A 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP3 HGNC ENSG00000136231 tier1 - - 71 0 0.00 41 15 26.79 IL13RA2 0 genome.wustl.edu 37 X 114239844 114239844 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 114239844 114239844 G T SNP IL13RA2 ENST00000243213 human ensembl 74_37 -1 known missense c.1032 p.F344L 0.002 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL13RA2 HGNC ENSG00000123496 tier1 - - 181 0 0.00 76 4 5.00 IL9R 0 genome.wustl.edu 37 X 155234144 155234144 + Missense_Mutation SNP A A C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 155234144 155234144 A C SNP IL9R ENST00000244174 human ensembl 74_37 +1 known missense c.493 p.T165P 0.824 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors IL9R HGNC ENSG00000124334 tier1 - - 115 0 0.00 97 27 21.77 IMPG1 0 genome.wustl.edu 37 6 76640790 76640790 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 6 76640790 76640790 G A SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known missense c.2123 p.A708V 0.876 pfscan_EG-like_dom pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 54 0 0.00 44 3 6.38 INSL5 0 genome.wustl.edu 37 1 67263857 67263857 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 67263857 67263857 G T SNP INSL5 ENST00000304526 human ensembl 74_37 -1 known missense c.247 p.P83T 0.000 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like - no_errors INSL5 HGNC ENSG00000172410 85 0 0.00 54 4 6.90 IQCG 0 genome.wustl.edu 37 3 197639737 197639737 + RNA SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 197639737 197639737 C T SNP IQCG ENST00000485787 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IQCG HGNC ENSG00000114473 tier1 - - 33 0 0.00 25 8 24.24 ITGB6 0 genome.wustl.edu 37 2 160994054 160994054 + Nonsense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 160994054 160994054 G T SNP ITGB6 ENST00000283249 human ensembl 74_37 -1 known nonsense c.1551 p.C517* 1.000 pirsf_Integrin_bsu,pfam_EGF_extracell pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 47 0 0.00 33 3 8.33 IVL 0 genome.wustl.edu 37 1 152882507 152882507 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 152882507 152882507 G T SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.234 p.Q78H 0.003 NULL pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 58 0 0.00 26 2 7.14 KANK1 0 genome.wustl.edu 37 9 730134 730134 + Nonsense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 9 730134 730134 G T SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known nonsense c.2782 p.E928* 0.272 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 56 0 0.00 38 2 5.00 KAT2B 0 genome.wustl.edu 37 3 20153126 20153126 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 20153126 20153126 G T SNP KAT2B ENST00000263754 human ensembl 74_37 +1 known missense c.890 p.S297I 1.000 pirsf_Hist_acetylase_PCAF,pfam_PCAF_N pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2B HGNC ENSG00000114166 tier1 - - 79 0 0.00 72 4 5.26 KCNA3 0 genome.wustl.edu 37 1 111216790 111216790 + Silent SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 111216790 111216790 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known silent c.642 p.R214 0.933 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 tier1 - - 66 0 0.00 46 35 43.21 KCNJ8 0 genome.wustl.edu 37 12 21926388 21926388 + Missense_Mutation SNP G G C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 12 21926388 21926388 G C SNP KCNJ8 ENST00000240662 human ensembl 74_37 -1 known missense c.163 p.R55G 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC ENSG00000121361 tier1 - - 71 0 0.00 48 22 30.99 KIAA1462 0 genome.wustl.edu 37 10 30336523 30336523 + Silent SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 10 30336523 30336523 G T SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known silent c.219 p.R73 0.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 65 0 0.00 76 4 5.00 KIAA2022 0 genome.wustl.edu 37 X 73961054 73961054 + Missense_Mutation SNP T T C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 73961054 73961054 T C SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.3338 p.K1113R 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 tier1 - - 73 0 0.00 67 17 20.24 KIF1A 0 genome.wustl.edu 37 2 241712609 241712609 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 241712609 241712609 G T SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.1102 p.L368M 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 tier1 - - 84 0 0.00 61 5 7.58 KIF3C 0 genome.wustl.edu 37 2 26203515 26203515 + Silent SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 26203515 26203515 G T SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known silent c.1272 p.G424 0.010 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 23 0 0.00 34 2 5.56 KIR2DL3 0 genome.wustl.edu 37 19 55250015 55250015 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 19 55250015 55250015 C T SNP KIR2DL3 ENST00000434419 human ensembl 74_37 +1 known missense c.5 p.S2L 0.978 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL3 HGNC ENSG00000243772 tier1 - - 33 0 0.00 43 4 8.33 KLHL13 0 genome.wustl.edu 37 X 117043737 117043737 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 117043737 117043737 G A SNP KLHL13 ENST00000539496 human ensembl 74_37 -1 known missense c.902 p.T301M 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL13 HGNC ENSG00000003096 tier1 - - 57 0 0.00 30 7 18.92 KLHL17 0 genome.wustl.edu 37 1 897049 897049 + Silent SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 897049 897049 C T SNP KLHL17 ENST00000338591 human ensembl 74_37 +1 known silent c.408 p.H136 0.917 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL17 HGNC ENSG00000187961 14 0 0.00 10 4 28.57 KLRG1 0 genome.wustl.edu 37 12 9142277 9142277 + Missense_Mutation SNP A A T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 12 9142277 9142277 A T SNP KLRG1 ENST00000266551 human ensembl 74_37 +1 known missense c.46 p.T16S 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRG1 HGNC ENSG00000139187 tier1 - - 31 0 0.00 18 7 28.00 KMT2E 0 genome.wustl.edu 37 7 104750981 104750981 + Missense_Mutation SNP C C G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 104750981 104750981 C G SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.3902 p.S1301C 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 tier1 - - 28 0 0.00 37 9 19.57 KRT31 0 genome.wustl.edu 37 17 39551570 39551570 + Missense_Mutation SNP T T A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 17 39551570 39551570 T A SNP KRT31 ENST00000251645 human ensembl 74_37 -1 known missense c.803 p.Y268F 0.040 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT31 HGNC ENSG00000094796 118 0 0.00 78 5 6.02 KRT9 0 genome.wustl.edu 37 17 39727651 39727651 + Silent SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 17 39727651 39727651 C T SNP KRT9 ENST00000246662 human ensembl 74_37 -1 known silent c.594 p.Q198 0.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT9 HGNC ENSG00000171403 tier1 - - 114 0 0.00 111 12 9.68 KRTAP5-AS1 0 genome.wustl.edu 37 11 1618691 1618691 + RNA SNP A A G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 1618691 1618691 A G SNP KRTAP5-AS1 ENST00000424148 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors KRTAP5-AS1 HGNC ENSG00000233930 tier1 - - 53 0 0.00 23 4 14.81 LCN15 0 genome.wustl.edu 37 9 139656665 139656665 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 9 139656665 139656665 G T SNP LCN15 ENST00000316144 human ensembl 74_37 -1 known missense c.495 p.D165E 0.493 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_A1-microglobln pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln,prints_Blactoglobulin - no_errors LCN15 HGNC ENSG00000177984 tier1 - - 95 0 0.00 70 5 6.67 LEKR1 0 genome.wustl.edu 37 3 156570674 156570674 + Nonsense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 156570674 156570674 G T SNP LEKR1 ENST00000356539 human ensembl 74_37 +1 known nonsense c.166 p.G56* 1.000 NULL superfamily_Ribosomal_L29 - no_errors LEKR1 HGNC ENSG00000197980 84 0 0.00 64 4 5.88 LGR4 0 genome.wustl.edu 37 11 27389564 27389564 + Missense_Mutation SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 27389564 27389564 C A SNP LGR4 ENST00000379214 human ensembl 74_37 -1 known missense c.2706 p.Q902H 1.000 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR4 HGNC ENSG00000205213 tier1 - - 40 0 0.00 20 3 13.04 LOC730441 0 genome.wustl.edu 37 7 141970999 141970999 + RNA SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 141970999 141970999 G T SNP LOC730441 ENST00000334288 human ensembl 74_37 -1 known rna NULL NULL 0.948 - - - no_errors U66059.29 Clone_based_vega_gene ENSG00000186163 tier1 - - 76 0 0.00 35 4 10.26 LRP12 0 genome.wustl.edu 37 8 105510194 105510194 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 8 105510194 105510194 C T SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.529 p.D177N 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 64 0 0.00 52 4 7.14 LRRC27 0 genome.wustl.edu 37 10 134165145 134165145 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 10 134165145 134165145 G A SNP LRRC27 ENST00000368613 human ensembl 74_37 +1 known missense c.961 p.D321N 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC27 HGNC ENSG00000148814 tier1 - - 60 0 0.00 44 5 10.20 LRRC31 0 genome.wustl.edu 37 3 169578432 169578432 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 169578432 169578432 G T SNP LRRC31 ENST00000316428 human ensembl 74_37 -1 known missense c.404 p.T135N 0.184 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC ENSG00000114248 49 0 0.00 48 4 7.69 LRRN2 0 genome.wustl.edu 37 1 204587951 204587951 + Silent SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 204587951 204587951 G A SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known silent c.1170 p.I390 0.990 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 65 0 0.00 56 3 5.00 LSM11 0 genome.wustl.edu 37 5 157182019 157182019 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 5 157182019 157182019 G T SNP LSM11 ENST00000286307 human ensembl 74_37 +1 known missense c.830 p.R277L 0.402 superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM11 HGNC ENSG00000155858 44 0 0.00 31 2 6.06 LSM3 0 genome.wustl.edu 37 3 14225460 14225460 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 14225460 14225460 G T SNP LSM3 ENST00000306024 human ensembl 74_37 +1 known missense c.156 p.M52I 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM3 HGNC ENSG00000170860 tier1 - - 79 0 0.00 73 4 5.19 LTBR 0 genome.wustl.edu 37 12 6499472 6499472 + Silent SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 12 6499472 6499472 G A SNP LTBR ENST00000228918 human ensembl 74_37 +1 known silent c.996 p.Q332 0.000 pirsf_TNFR_3_LTBR pirsf_TNFR_3_LTBR,pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_3_LTBR,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LTBR HGNC ENSG00000111321 tier1 - - 82 0 0.00 79 12 13.19 MAGEB2 0 genome.wustl.edu 37 X 30237369 30237369 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 30237369 30237369 G T SNP MAGEB2 ENST00000378988 human ensembl 74_37 +1 known missense c.672 p.W224C 0.358 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB2 HGNC ENSG00000099399 tier1 - - 58 0 0.00 59 4 6.35 MAP2K1 0 genome.wustl.edu 37 15 66779570 66779570 + Silent SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 15 66779570 66779570 C T SNP MAP2K1 ENST00000307102 human ensembl 74_37 +1 known silent c.900 p.Y300 0.996 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K1 HGNC ENSG00000169032 tier1 rs147333830 - 49 0 0.00 46 4 8.00 MAPK10 0 genome.wustl.edu 37 4 86950424 86950424 + Missense_Mutation SNP A A C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 4 86950424 86950424 A C SNP MAPK10 ENST00000359221 human ensembl 74_37 -1 known missense c.1178 p.L393R 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom - no_errors MAPK10 HGNC ENSG00000109339 tier1 - - 40 0 0.00 31 20 39.22 MARK3 0 genome.wustl.edu 37 14 103932743 103932743 + Nonsense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 14 103932743 103932743 G T SNP MARK3 ENST00000429436 human ensembl 74_37 +1 known nonsense c.961 p.E321* 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK3 HGNC ENSG00000075413 tier1 - - 43 0 0.00 25 7 21.88 MARVELD2 0 genome.wustl.edu 37 5 68737386 68737386 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 5 68737386 68737386 C T SNP MARVELD2 ENST00000325631 human ensembl 74_37 +1 known missense c.1582 p.R528C 1.000 pfam_Occludin_RNApol2_elong_fac_ELL pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel - no_errors MARVELD2 HGNC ENSG00000152939 tier1 - - 95 0 0.00 60 13 17.81 MB21D2 0 genome.wustl.edu 37 3 192516538 192516538 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 192516538 192516538 G T SNP MB21D2 ENST00000392452 human ensembl 74_37 -1 known missense c.1113 p.N371K 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 31 0 0.00 30 2 6.25 MICAL3 0 genome.wustl.edu 37 22 18293531 18293531 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 22 18293531 18293531 C T SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.5494 p.V1832M 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 tier1 - - 45 0 0.00 43 4 8.33 MID2 0 genome.wustl.edu 37 X 107170088 107170088 + Missense_Mutation SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 107170088 107170088 C A SNP MID2 ENST00000262843 human ensembl 74_37 +1 known missense c.1993 p.L665M 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID2 HGNC ENSG00000080561 tier1 - - 97 0 0.00 65 20 23.53 MIER2 0 genome.wustl.edu 37 19 327958 327958 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 19 327958 327958 G A SNP MIER2 ENST00000264819 human ensembl 74_37 -1 known missense c.275 p.A92V 0.992 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER2 HGNC ENSG00000105556 tier1 rs140470504 - 66 0 0.00 42 6 12.50 MORC2-AS1 0 genome.wustl.edu 37 22 31321466 31321466 + RNA SNP A A G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 22 31321466 31321466 A G SNP MORC2-AS1 ENST00000422995 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MORC2-AS1 HGNC ENSG00000235989 94 0 0.00 60 4 6.25 MPHOSPH8 0 genome.wustl.edu 37 13 20244445 20244445 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 13 20244445 20244445 G A SNP MPHOSPH8 ENST00000414242 human ensembl 74_37 +1 known missense c.2399 p.G800E 1.000 NULL pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow - no_errors MPHOSPH8 HGNC ENSG00000196199 tier1 - - 60 0 0.00 93 42 31.11 MROH9 0 genome.wustl.edu 37 1 170958995 170958995 + Splice_Site SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 170958995 170958995 G T SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known splice_site c.880-1 e10-1 1.000 - - - no_errors MROH9 HGNC ENSG00000117501 68 0 0.00 76 4 5.00 MSANTD2 0 genome.wustl.edu 37 11 124670237 124670237 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 124670237 124670237 G A SNP MSANTD2 ENST00000374979 human ensembl 74_37 -1 known missense c.40 p.P14S 1.000 NULL NULL - no_errors MSANTD2 HGNC ENSG00000120458 tier1 - - 71 0 0.00 34 4 10.26 MSN 0 genome.wustl.edu 37 X 64958409 64958409 + Missense_Mutation SNP C C G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 64958409 64958409 C G SNP MSN ENST00000360270 human ensembl 74_37 +1 known missense c.1274 p.T425R 1.000 pirsf_ERM,pfam_ERM_C_dom pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 tier1 - - 85 0 0.00 46 7 13.21 MT-RNR1 0 genome.wustl.edu 37 MT 1526 1526 + RNA SNP T T C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 MT 1526 1526 T C SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 31 0 0.00 6 2 25.00 MYOF 0 genome.wustl.edu 37 10 95191212 95191212 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 10 95191212 95191212 G T SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.298 p.P100T 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 55 0 0.00 73 4 5.13 NDUFAF6 0 genome.wustl.edu 37 8 96047735 96047736 + Frame_Shift_Ins INS - - A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 8 96047735 96047736 - A INS NDUFAF6 ENST00000396124 human ensembl 74_37 +1 known frame_shift_ins c.351_352 p.T119fs 1.000:1.000 pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth - no_errors NDUFAF6 HGNC ENSG00000156170 tier1 150 0 0.00 72 24 25.00 NELL1 0 genome.wustl.edu 37 11 21596747 21596747 + RNA SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 21596747 21596747 C T SNP NELL1 ENST00000529218 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NELL1 HGNC ENSG00000165973 tier1 - - 120 0 0.00 82 5 5.75 NETO1 0 genome.wustl.edu 37 18 70417471 70417471 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 18 70417471 70417471 G T SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known missense c.1367 p.T456K 0.997 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 tier1 - - 50 0 0.00 51 33 39.29 NF2 0 genome.wustl.edu 37 22 30038263 30038263 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 22 30038263 30038263 G T SNP NF2 ENST00000338641 human ensembl 74_37 +1 known missense c.436 p.V146F 1.000 pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,prints_Tropomyosin - no_errors NF2 HGNC ENSG00000186575 40 0 0.00 29 2 6.45 NKPD1 0 genome.wustl.edu 37 19 45655400 45655400 + Silent SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 19 45655400 45655400 C T SNP NKPD1 ENST00000317951 human ensembl 74_37 -1 known silent c.2295 p.P765 0.994 NULL pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 tier1 - - 17 0 0.00 18 6 25.00 NOP14 0 genome.wustl.edu 37 4 2956170 2956170 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 4 2956170 2956170 G A SNP NOP14 ENST00000416614 human ensembl 74_37 -1 known missense c.593 p.A198V 0.593 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 tier1 - - 122 0 0.00 71 4 5.33 NOTCH2 0 genome.wustl.edu 37 1 120479966 120479966 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 120479966 120479966 G T SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.3461 p.A1154E 0.001 pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 53 0 0.00 56 3 5.08 NPAT 0 genome.wustl.edu 37 11 108057217 108057217 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 108057217 108057217 C T SNP NPAT ENST00000278612 human ensembl 74_37 -1 known missense c.718 p.V240I 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 tier1 - - 49 0 0.00 42 4 8.70 NPAT 0 genome.wustl.edu 37 11 108057247 108057247 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 108057247 108057247 G A SNP NPAT ENST00000278612 human ensembl 74_37 -1 known missense c.688 p.R230W 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 55 0 0.00 45 3 6.12 NTM 0 genome.wustl.edu 37 11 132206566 132206566 + RNA DEL T T - TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 132206566 132206566 T - DEL NTM ENST00000474900 human ensembl 74_37 +1 known rna NULL NULL 0.131 - - - no_errors NTM HGNC ENSG00000182667 tier1 16 0 0.00 25 4 13.79 NUP205 0 genome.wustl.edu 37 7 135255953 135255953 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 135255953 135255953 G T SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known missense c.129 p.L43F 1.000 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 tier1 - - 35 0 0.00 67 6 8.22 NUP205 0 genome.wustl.edu 37 7 135304439 135304440 + Splice_Site INS - - T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 135304439 135304440 - T INS NUP205 ENST00000285968 human ensembl 74_37 +1 known splice_site_ins c.4231+1_4231+1 e29+1 1.000:0.997 - - - no_errors NUP205 HGNC ENSG00000155561 tier1 62 0 0.00 74 6 7.50 OLFM3 0 genome.wustl.edu 37 1 102269549 102269549 + RNA DEL T T - TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 102269549 102269549 T - DEL OLFM3 ENST00000462354 human ensembl 74_37 -1 known rna NULL NULL 0.475 - - - no_errors OLFM3 HGNC ENSG00000118733 tier1 17 0 0.00 17 6 26.09 OMD 0 genome.wustl.edu 37 9 95179781 95179781 + Silent SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 9 95179781 95179781 G A SNP OMD ENST00000375550 human ensembl 74_37 -1 known silent c.60 p.C20 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors OMD HGNC ENSG00000127083 tier1 - - 50 0 0.00 39 4 9.30 OR10J1 0 genome.wustl.edu 37 1 159409959 159409959 + Silent SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 159409959 159409959 C A SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known silent c.411 p.I137 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 tier1 - - 76 0 0.00 52 10 16.13 OR10Z1 0 genome.wustl.edu 37 1 158576932 158576932 + Missense_Mutation SNP A A C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 158576932 158576932 A C SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known missense c.704 p.K235T 0.180 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 tier1 - - 29 0 0.00 23 10 30.30 OR2A14 0 genome.wustl.edu 37 7 143826277 143826277 + Silent SNP T T C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 143826277 143826277 T C SNP OR2A14 ENST00000408899 human ensembl 74_37 +1 known silent c.72 p.I24 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A14 HGNC ENSG00000221938 tier1 - - 96 0 0.00 96 25 20.66 OR4K17 0 genome.wustl.edu 37 14 20586552 20586553 + Frame_Shift_Ins INS - - A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 14 20586552 20586553 - A INS OR4K17 ENST00000315543 human ensembl 74_37 +1 known frame_shift_ins c.987_988 p.L331fs 0.986:0.979 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K17 HGNC ENSG00000176230 tier1 37 0 0.00 54 14 20.59 OR51E1 0 genome.wustl.edu 37 11 4674369 4674369 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 4674369 4674369 G T SNP OR51E1 ENST00000396952 human ensembl 74_37 +1 known missense c.613 p.V205F 0.840 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E1 HGNC ENSG00000180785 tier1 - - 61 0 0.00 70 4 5.41 OR51G1 0 genome.wustl.edu 37 11 4944691 4944691 + Missense_Mutation SNP G G C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 4944691 4944691 G C SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known missense c.879 p.I293M 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 tier1 - - 73 0 0.00 46 5 9.80 OR6C4 0 genome.wustl.edu 37 12 55945623 55945623 + Missense_Mutation SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 12 55945623 55945623 C A SNP OR6C4 ENST00000394256 human ensembl 74_37 +1 known missense c.613 p.L205I 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C4 HGNC ENSG00000179626 20 0 0.00 53 3 5.36 OR6F1 0 genome.wustl.edu 37 1 247875722 247875722 + Nonsense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 247875722 247875722 G T SNP OR6F1 ENST00000302084 human ensembl 74_37 -1 known nonsense c.336 p.Y112* 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6F1 HGNC ENSG00000169214 tier1 - - 32 0 0.00 24 4 14.29 OR8H2 0 genome.wustl.edu 37 11 55873035 55873035 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 55873035 55873035 G A SNP OR8H2 ENST00000313503 human ensembl 74_37 +1 known missense c.517 p.V173I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H2 HGNC ENSG00000181767 41 0 0.00 55 6 9.84 OTUD4 0 genome.wustl.edu 37 4 146101019 146101019 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 4 146101019 146101019 C T SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known missense c.107 p.R36Q 1.000 pfscan_OTU pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 tier1 - - 24 0 0.00 14 5 26.32 P2RX5 0 genome.wustl.edu 37 17 3592831 3592831 + Silent SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 17 3592831 3592831 G A SNP P2RX5 ENST00000435558 human ensembl 74_37 -1 known silent c.708 p.S236 0.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X_purnocptor,prints_P2X5_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX5 HGNC ENSG00000083454 tier1 - - 110 0 0.00 28 38 57.58 PAN3 0 genome.wustl.edu 37 13 28834674 28834674 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 13 28834674 28834674 G T SNP PAN3 ENST00000380958 human ensembl 74_37 +1 known missense c.1339 p.D447Y 1.000 NULL superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom - no_errors PAN3 HGNC ENSG00000152520 tier1 - - 57 0 0.00 29 15 33.33 PAXBP1 0 genome.wustl.edu 37 21 34110576 34110576 + Nonsense_Mutation SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 21 34110576 34110576 C A SNP PAXBP1 ENST00000331923 human ensembl 74_37 -1 known nonsense c.2389 p.E797* 1.000 pfam_GCFC_dom pfam_GCFC_dom - no_errors PAXBP1 HGNC ENSG00000159086 25 0 0.00 26 2 7.14 PCDH9 0 genome.wustl.edu 37 13 67799816 67799816 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 13 67799816 67799816 G T SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.2757 p.D919E 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 52 0 0.00 60 4 6.15 PCDH9 0 genome.wustl.edu 37 13 67800403 67800403 + Missense_Mutation SNP C C G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 13 67800403 67800403 C G SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.2170 p.G724R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 113 0 0.00 53 31 36.90 PCDHA5 0 genome.wustl.edu 37 5 140203586 140203586 + Silent SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 5 140203586 140203586 C T SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known silent c.2226 p.S742 0.668 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 tier1 - - 66 0 0.00 58 4 6.45 PCDHA9 0 genome.wustl.edu 37 5 140230270 140230270 + Silent SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 5 140230270 140230270 C A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.2190 p.G730 0.586 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 tier1 - - 84 0 0.00 57 5 8.06 PCSK7 0 genome.wustl.edu 37 11 117090434 117090434 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 117090434 117090434 G T SNP PCSK7 ENST00000320934 human ensembl 74_37 -1 known missense c.1196 p.T399N 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 18 0 0.00 32 2 5.88 PDE12 0 genome.wustl.edu 37 3 57545406 57545406 + Nonsense_Mutation SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 57545406 57545406 C A SNP PDE12 ENST00000311180 human ensembl 74_37 +1 known nonsense c.1505 p.S502* 0.775 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors PDE12 HGNC ENSG00000174840 tier1 - - 45 0 0.00 62 4 6.06 PDE3A 0 genome.wustl.edu 37 12 20806960 20806960 + Missense_Mutation SNP A A T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 12 20806960 20806960 A T SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known missense c.3005 p.E1002V 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 tier1 - - 37 0 0.00 22 10 31.25 PHF2 0 genome.wustl.edu 37 9 96439033 96439033 + Missense_Mutation SNP G G C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 9 96439033 96439033 G C SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.2990 p.S997T 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 tier1 rs10992857 - 38 0 0.00 67 7 9.33 PICALM 0 genome.wustl.edu 37 11 85685805 85685805 + Nonsense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 85685805 85685805 G T SNP PICALM ENST00000393346 human ensembl 74_37 -1 known nonsense c.1890 p.Y630* 1.000 NULL pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors PICALM HGNC ENSG00000073921 135 0 0.00 72 4 5.26 PIEZO2 0 genome.wustl.edu 37 18 10784858 10784858 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 18 10784858 10784858 G T SNP PIEZO2 ENST00000582913 human ensembl 74_37 -1 known missense c.2416 p.H806N 1.000 NULL NULL - no_errors PIEZO2 HGNC ENSG00000154864 tier1 - - 73 0 0.00 57 4 6.56 PKNOX2 0 genome.wustl.edu 37 11 125301195 125301195 + Silent SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 125301195 125301195 G A SNP PKNOX2 ENST00000298282 human ensembl 74_37 +1 known silent c.1326 p.E442 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PKNOX2 HGNC ENSG00000165495 20 0 0.00 19 4 17.39 PKP4 0 genome.wustl.edu 37 2 159477843 159477843 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 159477843 159477843 G T SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known missense c.513 p.K171N 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 38 0 0.00 25 2 7.41 PLEKHH2 0 genome.wustl.edu 37 2 43971091 43971091 + Missense_Mutation SNP G G C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 43971091 43971091 G C SNP PLEKHH2 ENST00000282406 human ensembl 74_37 +1 known missense c.3518 p.G1173A 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 tier1 - - 38 0 0.00 42 9 17.65 PLK1S1 0 genome.wustl.edu 37 20 21209679 21209679 + RNA SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 20 21209679 21209679 C T SNP PLK1S1 ENST00000246027 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors PLK1S1 HGNC ENSG00000088970 tier1 - - 72 0 0.00 42 4 8.70 PLK2 0 genome.wustl.edu 37 5 57750818 57750818 + Silent SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 5 57750818 57750818 G T SNP PLK2 ENST00000274289 human ensembl 74_37 -1 known silent c.1786 p.R596 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK2 HGNC ENSG00000145632 51 0 0.00 38 2 5.00 PLOD2 0 genome.wustl.edu 37 3 145838965 145838965 + Missense_Mutation SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 145838965 145838965 C A SNP PLOD2 ENST00000282903 human ensembl 74_37 -1 known missense c.272 p.R91I 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD2 HGNC ENSG00000152952 44 0 0.00 47 4 7.84 PNLIPRP1 0 genome.wustl.edu 37 10 118354277 118354277 + Silent SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 10 118354277 118354277 C T SNP PNLIPRP1 ENST00000358834 human ensembl 74_37 +1 known silent c.366 p.C122 0.401 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc,prints_Lipase pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP1 HGNC ENSG00000187021 tier1 - - 76 0 0.00 77 7 8.24 POSTN 0 genome.wustl.edu 37 13 38143326 38143327 + RNA DEL TT TT - TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 13 38143326 38143327 TT - DEL POSTN ENST00000497145 human ensembl 74_37 -1 known rna NULL NULL 0.005:0.005 - - - no_errors POSTN HGNC ENSG00000133110 tier1 11 0 0.00 17 2 10.53 PPFIA1 0 genome.wustl.edu 37 11 70208475 70208475 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 70208475 70208475 G A SNP PPFIA1 ENST00000253925 human ensembl 74_37 +1 known missense c.2746 p.D916N 1.000 pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC ENSG00000131626 37 0 0.00 35 2 5.41 PPP1R14B 0 genome.wustl.edu 37 11 64012401 64012401 + Splice_Site SNP C C G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 64012401 64012401 C G SNP PPP1R14B ENST00000309318 human ensembl 74_37 -1 known splice_site c.375+1 e3+1 0.946 - - - no_errors PPP1R14B HGNC ENSG00000173457 tier1 - - 72 0 0.00 42 4 8.70 PPP1R18 0 genome.wustl.edu 37 6 30652231 30652231 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 6 30652231 30652231 C T SNP PPP1R18 ENST00000274853 human ensembl 74_37 -1 known missense c.1565 p.S522N 1.000 NULL NULL - no_errors PPP1R18 HGNC ENSG00000146112 tier1 - - 56 0 0.00 35 25 41.67 PPP5C 0 genome.wustl.edu 37 19 46891917 46891917 + Missense_Mutation SNP A A T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 19 46891917 46891917 A T SNP PPP5C ENST00000012443 human ensembl 74_37 +1 known missense c.1284 p.E428D 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,pfam_PPP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC ENSG00000011485 51 0 0.00 18 2 10.00 PRKAG2 0 genome.wustl.edu 37 7 151262817 151262817 + Missense_Mutation SNP A A T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 151262817 151262817 A T SNP PRKAG2 ENST00000287878 human ensembl 74_37 -1 known missense c.1388 p.V463E 1.000 pfam_CBS_dom,smart_CBS_dom pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG2 HGNC ENSG00000106617 tier1 - - 54 0 0.00 70 19 21.35 PRSS30P 0 genome.wustl.edu 37 16 2891192 2891192 + RNA SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 16 2891192 2891192 C T SNP PRSS30P ENST00000475030 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PRSS30P HGNC ENSG00000172460 tier1 - - 110 0 0.00 60 12 16.67 RABL5 0 genome.wustl.edu 37 7 100959718 100959718 + Silent SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 100959718 100959718 G T SNP RABL5 ENST00000315322 human ensembl 74_37 -1 known silent c.312 p.S104 0.830 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase - no_errors RABL5 HGNC ENSG00000128581 tier1 - - 68 0 0.00 46 4 8.00 RAD51B 0 genome.wustl.edu 37 14 68292187 68292187 + Missense_Mutation SNP T T G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 14 68292187 68292187 T G SNP RAD51B ENST00000487270 human ensembl 74_37 +1 known missense c.91 p.L31V 0.999 superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51B HGNC ENSG00000182185 tier1 - - 55 0 0.00 47 14 22.95 RANBP2 0 genome.wustl.edu 37 2 109384333 109384333 + Frame_Shift_Del DEL T T - TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 109384333 109384333 T - DEL RANBP2 ENST00000283195 human ensembl 74_37 +1 known frame_shift_del c.7338 p.S2447fs 0.148 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 tier1 215 0 0.00 153 50 24.63 RASGRF1 0 genome.wustl.edu 37 15 79320164 79320164 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 15 79320164 79320164 G A SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.1300 p.R434W 1.000 superfamily_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 tier1 - - 69 0 0.00 65 5 7.14 RB1 0 genome.wustl.edu 37 13 48955538 48955538 + Nonsense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 13 48955538 48955538 C T SNP RB1 ENST00000267163 human ensembl 74_37 +1 known nonsense c.1654 p.R552* 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 rs121913303 - 58 0 0.00 23 11 32.35 RBM27 0 genome.wustl.edu 37 5 145634538 145634538 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 5 145634538 145634538 G T SNP RBM27 ENST00000265271 human ensembl 74_37 +1 known missense c.1477 p.A493S 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 72 0 0.00 72 4 5.26 RECQL4 0 genome.wustl.edu 37 8 145739026 145739026 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 8 145739026 145739026 C T SNP RECQL4 ENST00000428558 human ensembl 74_37 -1 known missense c.2129 p.R710H 0.990 superfamily_P-loop_NTPase,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL4 HGNC ENSG00000160957 tier1 - - 38 0 0.00 23 7 23.33 RERE 0 genome.wustl.edu 37 1 8421866 8421866 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 8421866 8421866 G T SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.1973 p.T658K 0.992 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 52 0 0.00 48 3 5.88 RFTN1 0 genome.wustl.edu 37 3 16419305 16419305 + Missense_Mutation SNP A A C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 16419305 16419305 A C SNP RFTN1 ENST00000334133 human ensembl 74_37 -1 known missense c.746 p.L249R 0.000 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 tier1 - - 47 0 0.00 40 5 11.11 RIMS1 0 genome.wustl.edu 37 6 73110270 73110270 + Missense_Mutation SNP G G C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 6 73110270 73110270 G C SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.4933 p.E1645Q 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 42 0 0.00 71 6 7.79 RRAGB 0 genome.wustl.edu 37 X 55757975 55757975 + Missense_Mutation SNP T T G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 55757975 55757975 T G SNP RRAGB ENST00000262850 human ensembl 74_37 +1 known missense c.556 p.L186V 1.000 pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase - no_errors RRAGB HGNC ENSG00000083750 tier1 - - 88 0 0.00 62 5 7.46 SARDH 0 genome.wustl.edu 37 9 136536779 136536779 + Nonsense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 9 136536779 136536779 C T SNP SARDH ENST00000371872 human ensembl 74_37 -1 known nonsense c.2204 p.W735* 1.000 pfam_GCV_T_N pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 tier1 - - 46 0 0.00 46 8 14.81 SCN9A 0 genome.wustl.edu 37 2 167144975 167144975 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 167144975 167144975 C T SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.1289 p.R430H 0.509 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 64 0 0.00 26 20 43.48 SCRT2 0 genome.wustl.edu 37 20 644465 644465 + Missense_Mutation SNP G G C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 20 644465 644465 G C SNP SCRT2 ENST00000246104 human ensembl 74_37 -1 known missense c.774 p.H258Q 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SCRT2 HGNC ENSG00000215397 11 0 0.00 34 4 10.53 SENP6 0 genome.wustl.edu 37 6 76385617 76385617 + Missense_Mutation SNP G G C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 6 76385617 76385617 G C SNP SENP6 ENST00000370014 human ensembl 74_37 +1 known missense c.1468 p.D490H 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP6 HGNC ENSG00000112701 48 0 0.00 52 3 5.45 SERPINA7 0 genome.wustl.edu 37 X 105280573 105280573 + Missense_Mutation SNP A A T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 105280573 105280573 A T SNP SERPINA7 ENST00000327674 human ensembl 74_37 -1 known missense c.477 p.F159L 0.576 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA7 HGNC ENSG00000123561 tier1 - - 59 0 0.00 32 14 30.43 SIK3 0 genome.wustl.edu 37 11 116744228 116744228 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 116744228 116744228 C T SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known missense c.1706 p.R569Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 tier1 - - 56 0 0.00 17 12 41.38 SIK3 0 genome.wustl.edu 37 11 116730204 116730204 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 116730204 116730204 G T SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known missense c.2398 p.Q800K 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 48 0 0.00 52 3 5.45 SKI 0 genome.wustl.edu 37 1 2235375 2235375 + Silent SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 2235375 2235375 C T SNP SKI ENST00000378536 human ensembl 74_37 +1 known silent c.1308 p.A436 0.134 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 tier1 rs139034124 - 49 0 0.00 26 14 35.00 SLC12A1 0 genome.wustl.edu 37 15 48548097 48548097 + Missense_Mutation SNP A A C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 15 48548097 48548097 A C SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known missense c.2032 p.K678Q 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 tier1 - - 81 0 0.00 42 15 26.32 SLC14A1 0 genome.wustl.edu 37 18 43319149 43319149 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 18 43319149 43319149 G A SNP SLC14A1 ENST00000415427 human ensembl 74_37 +1 known missense c.853 p.G285R 1.000 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A1 HGNC ENSG00000141469 tier1 - - 72 0 0.00 62 5 7.46 SLC22A13 0 genome.wustl.edu 37 3 38317828 38317828 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 38317828 38317828 G A SNP SLC22A13 ENST00000311856 human ensembl 74_37 +1 known missense c.1288 p.A430T 0.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A13 HGNC ENSG00000172940 tier1 - - 83 0 0.00 47 4 7.84 SLC25A1 0 genome.wustl.edu 37 22 19164397 19164397 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 22 19164397 19164397 C T SNP SLC25A1 ENST00000215882 human ensembl 74_37 -1 known missense c.593 p.R198H 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A1 HGNC ENSG00000100075 76 0 0.00 49 3 5.77 SLC35F3 0 genome.wustl.edu 37 1 234444886 234444886 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 234444886 234444886 G T SNP SLC35F3 ENST00000366617 human ensembl 74_37 +1 known missense c.441 p.L147F 1.000 NULL pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_SLC35_F1/F2/F6 - no_errors SLC35F3 HGNC ENSG00000183780 57 0 0.00 55 4 6.78 SLC35F6 0 genome.wustl.edu 37 2 26999241 26999241 + Silent SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 26999241 26999241 G T SNP SLC35F6 ENST00000344420 human ensembl 74_37 +1 known silent c.537 p.G179 1.000 pfam_SLC35_F1/F2/F6,pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UCP036436 pfam_SLC35_F1/F2/F6,pfam_Nuc_sug_transpt,pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_UAA,pirsf_UCP036436 - no_errors SLC35F6 HGNC ENSG00000213699 67 0 0.00 40 4 9.09 SLC36A2 0 genome.wustl.edu 37 5 150701706 150701706 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 5 150701706 150701706 G T SNP SLC36A2 ENST00000335244 human ensembl 74_37 -1 known missense c.1081 p.P361T 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A2 HGNC ENSG00000186335 tier1 - - 55 0 0.00 32 4 11.11 SLC45A4 0 genome.wustl.edu 37 8 142228285 142228285 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 8 142228285 142228285 C T SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known missense c.1454 p.S485N 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 tier1 - - 26 0 0.00 39 11 22.00 SLC5A8 0 genome.wustl.edu 37 12 101581192 101581192 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 12 101581192 101581192 G T SNP SLC5A8 ENST00000536262 human ensembl 74_37 -1 known missense c.935 p.T312K 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A8 HGNC ENSG00000256870 71 0 0.00 50 3 5.66 SLC6A19 0 genome.wustl.edu 37 5 1212593 1212593 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 5 1212593 1212593 C T SNP SLC6A19 ENST00000515652 human ensembl 74_37 +1 known missense c.565 p.R189W 0.002 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A19 HGNC ENSG00000174358 39 0 0.00 25 3 10.71 SLC9C1 0 genome.wustl.edu 37 3 111888112 111888112 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 111888112 111888112 G T SNP SLC9C1 ENST00000305815 human ensembl 74_37 -1 known missense c.2983 p.Q995K 0.614 superfamily_cNMP-bd-like pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 tier1 - - 47 0 0.00 58 4 6.45 SLCO1B1 0 genome.wustl.edu 37 12 21325664 21325664 + Missense_Mutation SNP A A G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 12 21325664 21325664 A G SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known missense c.165 p.I55M 0.985 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 tier1 - - 76 0 0.00 84 19 18.45 SLIRP 0 genome.wustl.edu 37 14 78174465 78174465 + Nonsense_Mutation SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 14 78174465 78174465 C A SNP SLIRP ENST00000557342 human ensembl 74_37 +1 known nonsense c.11 p.S4* 0.004 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SLIRP HGNC ENSG00000119705 63 0 0.00 54 4 6.90 SLU7 0 genome.wustl.edu 37 5 159833509 159833509 + Missense_Mutation SNP T T G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 5 159833509 159833509 T G SNP SLU7 ENST00000297151 human ensembl 74_37 -1 known missense c.1253 p.K418T 1.000 pfam_Slu7 pfam_Slu7,superfamily_Znf_CCHC - no_errors SLU7 HGNC ENSG00000164609 tier1 - - 36 0 0.00 33 4 10.81 SMURF1 0 genome.wustl.edu 37 7 98636024 98636024 + Missense_Mutation SNP T T G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 98636024 98636024 T G SNP SMURF1 ENST00000361125 human ensembl 74_37 -1 known missense c.1753 p.K585Q 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors SMURF1 HGNC ENSG00000198742 tier1 - - 48 0 0.00 56 21 27.27 SNHG14 0 genome.wustl.edu 37 15 25336769 25336769 + RNA SNP A A G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 15 25336769 25336769 A G SNP SNHG14 ENST00000546682 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 11 0 0.00 7 2 22.22 SNRNP70 0 genome.wustl.edu 37 19 49611242 49611242 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 19 49611242 49611242 C T SNP SNRNP70 ENST00000598441 human ensembl 74_37 +1 known missense c.856 p.R286W 1.000 NULL pfam_U1snRNP70_N,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRNP70 HGNC ENSG00000104852 11 0 0.00 14 2 12.50 SP100 0 genome.wustl.edu 37 2 231331900 231331900 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 231331900 231331900 G T SNP SP100 ENST00000340126 human ensembl 74_37 +1 known missense c.1261 p.G421W 0.000 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 52 0 0.00 34 2 5.56 SPEN 0 genome.wustl.edu 37 1 16259994 16259994 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 16259994 16259994 G T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.7259 p.R2420M 0.207 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 tier1 - - 82 0 0.00 68 4 5.56 SSPO 0 genome.wustl.edu 37 7 149484538 149484538 + RNA SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 149484538 149484538 G T SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.976 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 38 0 0.00 55 4 6.78 SYNE4 0 genome.wustl.edu 37 19 36494298 36494298 + Nonsense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 19 36494298 36494298 G A SNP SYNE4 ENST00000324444 human ensembl 74_37 -1 known nonsense c.1156 p.R386* 0.019 pfam_KASH,pfscan_KASH pfam_KASH,pfscan_KASH - no_errors SYNE4 HGNC ENSG00000181392 tier1 - - 58 0 0.00 56 4 6.67 SZT2 0 genome.wustl.edu 37 1 43888892 43888892 + Silent SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 43888892 43888892 C A SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known silent c.2160 p.P720 0.998 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 tier1 - - 55 0 0.00 53 4 6.90 TAB3 0 genome.wustl.edu 37 X 30873574 30873574 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 30873574 30873574 G T SNP TAB3 ENST00000288422 human ensembl 74_37 -1 known missense c.208 p.R70S 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 tier1 - - 60 0 0.00 48 4 7.69 TAB3 0 genome.wustl.edu 37 X 30873600 30873600 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 30873600 30873600 G T SNP TAB3 ENST00000288422 human ensembl 74_37 -1 known missense c.182 p.P61Q 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 56 0 0.00 38 4 9.52 TATDN2 0 genome.wustl.edu 37 3 10291029 10291029 + Missense_Mutation SNP C C G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 10291029 10291029 C G SNP TATDN2 ENST00000287652 human ensembl 74_37 +1 known missense c.145 p.P49A 0.471 NULL pfam_TatD_family - no_errors TATDN2 HGNC ENSG00000157014 tier1 - - 85 0 0.00 95 13 12.04 TBX5 0 genome.wustl.edu 37 12 114793733 114793733 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 12 114793733 114793733 G T SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.1161 p.S387R 0.887 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 tier1 - - 44 0 0.00 24 21 46.67 TBX5 0 genome.wustl.edu 37 12 114803998 114803998 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 12 114803998 114803998 G T SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.954 p.S318R 0.814 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 tier1 - - 90 0 0.00 39 25 39.06 TDP1 0 genome.wustl.edu 37 14 90489414 90489414 + Silent SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 14 90489414 90489414 G A SNP TDP1 ENST00000393452 human ensembl 74_37 +1 putative silent c.1683 p.S561 0.000 NULL pfam_Tyr-DNA_phospho - no_errors TDP1 HGNC ENSG00000042088 tier1 - - 39 0 0.00 27 4 12.90 TEK 0 genome.wustl.edu 37 9 27185608 27185608 + Silent SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 9 27185608 27185608 C T SNP TEK ENST00000380036 human ensembl 74_37 +1 known silent c.1308 p.P436 0.995 pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 tier1 - - 108 0 0.00 68 6 8.00 THYN1 0 genome.wustl.edu 37 11 134118702 134118702 + Splice_Site SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 134118702 134118702 C T SNP THYN1 ENST00000341541 human ensembl 74_37 -1 known splice_site c.631+1 e6+1 1.000 - - - no_errors THYN1 HGNC ENSG00000151500 tier1 - - 54 0 0.00 24 6 20.00 TINAGL1 0 genome.wustl.edu 37 1 32042855 32042855 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 32042855 32042855 C T SNP TINAGL1 ENST00000271064 human ensembl 74_37 +1 known missense c.106 p.H36Y 1.000 NULL pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAGL1 HGNC ENSG00000142910 11 0 0.00 38 7 15.56 TLN2 0 genome.wustl.edu 37 15 63014551 63014551 + Splice_Site SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 15 63014551 63014551 G T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known splice_site c.2992-1 e23-1 1.000 - - - no_errors TLN2 HGNC ENSG00000171914 19 0 0.00 22 4 15.38 TLR1 0 genome.wustl.edu 37 4 38798612 38798612 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 4 38798612 38798612 C T SNP TLR1 ENST00000308979 human ensembl 74_37 -1 known missense c.1841 p.C614Y 0.999 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR1 HGNC ENSG00000174125 70 0 0.00 49 4 7.55 TLR8 0 genome.wustl.edu 37 X 12937425 12937425 + Missense_Mutation SNP T T C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 X 12937425 12937425 T C SNP TLR8 ENST00000218032 human ensembl 74_37 +1 known missense c.266 p.L89P 0.942 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 tier1 - - 53 0 0.00 63 4 5.97 TM2D1 0 genome.wustl.edu 37 1 62149068 62149069 + RNA DEL AT AT - TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 62149068 62149069 AT - DEL TM2D1 ENST00000472989 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors TM2D1 HGNC ENSG00000162604 tier1 39 0 0.00 43 7 14.00 TMEM209 0 genome.wustl.edu 37 7 129843914 129843914 + Missense_Mutation SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 129843914 129843914 C A SNP TMEM209 ENST00000397622 human ensembl 74_37 -1 known missense c.40 p.D14Y 1.000 pfam_Cytochrome_B561-rel pfam_Cytochrome_B561-rel - no_errors TMEM209 HGNC ENSG00000146842 tier1 - - 45 0 0.00 73 4 5.19 TMPRSS7 0 genome.wustl.edu 37 3 111794282 111794282 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 111794282 111794282 C T SNP TMPRSS7 ENST00000419127 human ensembl 74_37 +1 known missense c.1520 p.A507V 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS7 HGNC ENSG00000176040 33 0 0.00 46 4 8.00 TMTC3 0 genome.wustl.edu 37 12 88586397 88586397 + Nonsense_Mutation SNP A A T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 12 88586397 88586397 A T SNP TMTC3 ENST00000266712 human ensembl 74_37 +1 known nonsense c.1723 p.K575* 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC ENSG00000139324 tier1 - - 77 0 0.00 33 25 43.10 TNR 0 genome.wustl.edu 37 1 175355408 175355408 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 175355408 175355408 G T SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.1537 p.R513S 1.000 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_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 75 0 0.00 38 2 5.00 TOM1L1 0 genome.wustl.edu 37 17 53016364 53016364 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 17 53016364 53016364 G T SNP TOM1L1 ENST00000575882 human ensembl 74_37 +1 known missense c.1113 p.E371D 0.981 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L1 HGNC ENSG00000141198 tier1 - - 68 0 0.00 75 4 5.06 TOP2B 0 genome.wustl.edu 37 3 25648815 25648815 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 3 25648815 25648815 G T SNP TOP2B ENST00000264331 human ensembl 74_37 -1 known missense c.4145 p.A1382D 1.000 NULL pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 63 0 0.00 36 2 5.26 TP53 0 genome.wustl.edu 37 17 7577556 7577557 + In_Frame_Ins INS - - AGG TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 17 7577556 7577557 - AGG INS TP53 ENST00000269305 human ensembl 74_37 -1 known in_frame_ins c.725_724 p.242in_frame_insS 1.000:1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 49 0 0.00 33 19 36.54 TPP1 0 genome.wustl.edu 37 11 6640089 6640089 + Silent SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 11 6640089 6640089 G T SNP TPP1 ENST00000299427 human ensembl 74_37 -1 known silent c.147 p.L49 1.000 pfam_Peptidase_S53_propep,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep - no_errors TPP1 HGNC ENSG00000166340 40 0 0.00 43 3 6.52 TRIM39 0 genome.wustl.edu 37 6 30309814 30309814 + Frame_Shift_Del DEL T T - TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 6 30309814 30309814 T - DEL TRIM39 ENST00000376656 human ensembl 74_37 +1 known frame_shift_del c.1335 p.F446fs 0.999 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,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 TRIM39 HGNC ENSG00000204599 tier1 57 0 0.00 41 3 6.82 TRPM1 0 genome.wustl.edu 37 15 31354881 31354881 + Missense_Mutation SNP C C A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 15 31354881 31354881 C A SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.1041 p.E347D 0.659 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 36 0 0.00 28 2 6.67 TRPM8 0 genome.wustl.edu 37 2 234869499 234869499 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 234869499 234869499 G T SNP TRPM8 ENST00000324695 human ensembl 74_37 +1 known missense c.1442 p.G481V 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 74 0 0.00 55 3 5.08 TRPS1 0 genome.wustl.edu 37 8 116617135 116617135 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 8 116617135 116617135 G T SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.1061 p.T354N 1.000 smart_Znf_C2H2-like pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 tier1 - - 63 0 0.00 58 4 6.45 TSPAN14 0 genome.wustl.edu 37 10 82279032 82279032 + RNA SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 10 82279032 82279032 C T SNP TSPAN14 ENST00000265450 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TSPAN14 HGNC ENSG00000108219 tier1 - - 22 0 0.00 17 7 29.17 TTC23 0 genome.wustl.edu 37 15 99768821 99768821 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 15 99768821 99768821 G T SNP TTC23 ENST00000262074 human ensembl 74_37 -1 known missense c.97 p.L33I 0.851 NULL smart_TPR_repeat - no_errors TTC23 HGNC ENSG00000103852 tier1 - - 55 0 0.00 61 4 6.15 TTC3 0 genome.wustl.edu 37 21 38516931 38516931 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 21 38516931 38516931 C T SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.1879 p.P627S 0.577 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 tier1 - - 68 0 0.00 48 23 32.39 TTC39A 0 genome.wustl.edu 37 1 51756283 51756283 + Silent SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 51756283 51756283 G T SNP TTC39A ENST00000447632 human ensembl 74_37 -1 known silent c.1389 p.I463 0.991 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC ENSG00000085831 55 0 0.00 75 4 5.06 TTN 0 genome.wustl.edu 37 2 179391940 179391940 + Silent SNP G G C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 179391940 179391940 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.100071 p.T33357 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 70 0 0.00 50 16 24.24 TTN 0 genome.wustl.edu 37 2 179417237 179417237 + Silent SNP T T C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 179417237 179417237 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.82686 p.E27562 0.383 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 46 0 0.00 29 10 25.64 TTN 0 genome.wustl.edu 37 2 179542443 179542443 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 179542443 179542443 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.30464 p.P10155H 0.016 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 98 0 0.00 86 15 14.85 TTN 0 genome.wustl.edu 37 2 179605889 179605889 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 179605889 179605889 G T SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.11558 p.A3853E 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 39 0 0.00 31 2 6.06 UNC5D 0 genome.wustl.edu 37 8 35588557 35588557 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 8 35588557 35588557 C T SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.1709 p.A570V 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 92 0 0.00 67 5 6.94 USH2A 0 genome.wustl.edu 37 1 216138700 216138700 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 216138700 216138700 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.7079 p.T2360K 0.045 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 70 0 0.00 75 8 9.64 USH2A 0 genome.wustl.edu 37 1 216373317 216373317 + Missense_Mutation SNP T T G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 1 216373317 216373317 T G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.3463 p.S1155R 0.684 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 76 0 0.00 66 15 18.52 USP16 0 genome.wustl.edu 37 21 30402977 30402977 + Silent SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 21 30402977 30402977 G T SNP USP16 ENST00000334352 human ensembl 74_37 +1 known silent c.123 p.V41 0.986 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP16 HGNC ENSG00000156256 tier1 - - 105 0 0.00 63 4 5.97 UTP20 0 genome.wustl.edu 37 12 101702064 101702064 + Silent SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 12 101702064 101702064 G A SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known silent c.2097 p.L699 0.736 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 tier1 - - 58 0 0.00 53 4 7.02 VASH1 0 genome.wustl.edu 37 14 77242338 77242338 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 14 77242338 77242338 G A SNP VASH1 ENST00000167106 human ensembl 74_37 +1 known missense c.634 p.A212T 1.000 NULL NULL - no_errors VASH1 HGNC ENSG00000071246 tier1 - - 83 0 0.00 78 5 6.02 VIP 0 genome.wustl.edu 37 6 153075359 153075359 + Nonsense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 6 153075359 153075359 G T SNP VIP ENST00000367244 human ensembl 74_37 +1 known nonsense c.166 p.E56* 0.130 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors VIP HGNC ENSG00000146469 64 0 0.00 54 3 5.26 WDFY1 0 genome.wustl.edu 37 2 224760340 224760340 + Silent SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 224760340 224760340 G A SNP WDFY1 ENST00000233055 human ensembl 74_37 -1 known silent c.606 p.V202 0.970 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY1 HGNC ENSG00000085449 48 0 0.00 30 2 6.25 XIRP2 0 genome.wustl.edu 37 2 168100467 168100467 + Missense_Mutation SNP A A C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 2 168100467 168100467 A C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.2565 p.E855D 0.352 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 55 0 0.00 35 11 23.91 XPO6 0 genome.wustl.edu 37 16 28117395 28117395 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 16 28117395 28117395 C T SNP XPO6 ENST00000304658 human ensembl 74_37 -1 known missense c.2753 p.C918Y 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC ENSG00000169180 tier1 - - 63 0 0.00 44 4 8.33 YES1 0 genome.wustl.edu 37 18 724581 724581 + Missense_Mutation SNP G G A TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 18 724581 724581 G A SNP YES1 ENST00000314574 human ensembl 74_37 -1 known missense c.1475 p.P492L 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors YES1 HGNC ENSG00000176105 tier1 - - 81 0 0.00 35 11 23.91 YIPF2 0 genome.wustl.edu 37 19 11034194 11034194 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 19 11034194 11034194 C T SNP YIPF2 ENST00000253031 human ensembl 74_37 -1 known missense c.811 p.A271T 0.054 NULL pfam_Yip1 - no_errors YIPF2 HGNC ENSG00000130733 tier1 - - 79 0 0.00 52 13 20.00 ZFHX3 0 genome.wustl.edu 37 16 72992173 72992173 + Silent SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 16 72992173 72992173 G T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.1872 p.G624 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 tier1 - - 44 0 0.00 37 4 9.76 ZFYVE28 0 genome.wustl.edu 37 4 2306473 2306473 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 4 2306473 2306473 C T SNP ZFYVE28 ENST00000290974 human ensembl 74_37 -1 known missense c.1594 p.A532T 0.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 tier1 - - 36 0 0.00 37 5 11.90 ZHX1 0 genome.wustl.edu 37 8 124268346 124268346 + RNA SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 8 124268346 124268346 G T SNP ZHX1 ENST00000522595 human ensembl 74_37 -1 known rna NULL NULL 0.991 - - - no_errors ZHX1 HGNC ENSG00000165156 tier1 - - 60 0 0.00 61 4 6.15 ZNF454 0 genome.wustl.edu 37 5 178392111 178392111 + Missense_Mutation SNP A A G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 5 178392111 178392111 A G SNP ZNF454 ENST00000320129 human ensembl 74_37 +1 known missense c.706 p.R236G 1.000 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 ZNF454 HGNC ENSG00000178187 tier1 - - 63 0 0.00 16 11 40.74 ZNF732 0 genome.wustl.edu 37 4 265103 265103 + Missense_Mutation SNP T T C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 4 265103 265103 T C SNP ZNF732 ENST00000419098 human ensembl 74_37 -1 known missense c.1543 p.T515A 0.001 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 ZNF732 HGNC ENSG00000186777 56 0 0.00 47 4 7.84 ZNF783 0 genome.wustl.edu 37 7 148987050 148987050 + Missense_Mutation SNP A A T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 148987050 148987050 A T SNP ZNF783 ENST00000481519 human ensembl 74_37 +1 known missense c.204 p.R68S 0.001 NULL NULL - no_errors ZNF783 HGNC ENSG00000204946 tier1 - - 67 0 0.00 60 5 7.69 ZNF790 0 genome.wustl.edu 37 19 37310980 37310980 + Missense_Mutation SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 19 37310980 37310980 G T SNP ZNF790 ENST00000356725 human ensembl 74_37 -1 known missense c.266 p.P89Q 0.006 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 ZNF790 HGNC ENSG00000197863 tier1 - - 77 0 0.00 56 20 26.32 ZNF804B 0 genome.wustl.edu 37 7 88847525 88847525 + Missense_Mutation SNP T T G TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 7 88847525 88847525 T G SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.165 p.F55L 1.000 pfam_Znf_C2H2_jaz pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 95 0 0.00 42 34 44.74 ZNF829 0 genome.wustl.edu 37 19 37382649 37382649 + Silent SNP A A C TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 19 37382649 37382649 A C SNP ZNF829 ENST00000520965 human ensembl 74_37 -1 known silent c.1287 p.G429 0.101 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 ZNF829 HGNC ENSG00000185869 tier1 - - 63 0 0.00 62 5 7.46 ZNRF4 0 genome.wustl.edu 37 19 5456047 5456047 + Missense_Mutation SNP C C T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 814014d1-4227-42ae-acea-0a97cd792ff3 84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6 19 5456047 5456047 C T SNP ZNRF4 ENST00000222033 human ensembl 74_37 +1 known missense c.545 p.A182V 0.758 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 tier1 - - 65 0 0.00 45 6 11.76