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 ABCB1 0 genome.wustl.edu 37 7 87196171 87196171 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 7 87196171 87196171 C A SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.460 p.A154S 0.952 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 tier1 - - 43 0 0.00 33 194 85.46 ABCC6 0 genome.wustl.edu 37 16 16276745 16276745 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 16276745 16276745 G T SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known silent c.1986 p.V662 0.411 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 tier1 - - 45 0 0.00 32 21 39.62 ABCC9 0 genome.wustl.edu 37 12 22012598 22012598 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 12 22012598 22012598 G T SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known silent c.2427 p.G809 0.988 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like 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 - - 13 0 0.00 26 17 39.53 ACSM2B 0 genome.wustl.edu 37 16 20556566 20556566 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 20556566 20556566 C A SNP ACSM2B ENST00000329697 human ensembl 74_37 -1 known missense c.1194 p.K398N 0.001 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 tier1 - - 34 0 0.00 25 32 56.14 ACSS3 0 genome.wustl.edu 37 12 81472130 81472130 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 12 81472130 81472130 G T SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known missense c.231 p.W77C 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 tier1 - - 19 0 0.00 2 8 80.00 ADAM18 0 genome.wustl.edu 37 8 39502989 39502989 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 8 39502989 39502989 G C SNP ADAM18 ENST00000265707 human ensembl 74_37 +1 known missense c.1042 p.A348P 0.986 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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 - no_errors ADAM18 HGNC ENSG00000168619 tier1 - - 31 0 0.00 71 21 22.83 ADRA1A 0 genome.wustl.edu 37 8 26627766 26627766 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 8 26627766 26627766 C A SNP ADRA1A ENST00000276393 human ensembl 74_37 -1 known missense c.1301 p.C434F 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 tier1 - - 80 0 0.00 7 35 83.33 AEN 0 genome.wustl.edu 37 15 89169568 89169568 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 15 89169568 89169568 G T SNP AEN ENST00000379231 human ensembl 74_37 +1 known missense c.128 p.R43L 0.953 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors AEN HGNC ENSG00000181026 tier1 - - 36 0 0.00 16 13 44.83 AGBL1 0 genome.wustl.edu 37 15 86791012 86791012 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 15 86791012 86791012 G T SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.499 p.G167C 0.775 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 tier1 - - 38 0 0.00 21 18 46.15 AKAP4 0 genome.wustl.edu 37 X 49958206 49958206 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 X 49958206 49958206 G C SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known missense c.1158 p.C386W 1.000 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 tier1 - - 15 0 0.00 2 16 88.89 AMBRA1 0 genome.wustl.edu 37 11 46430144 46430144 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 46430144 46430144 C A SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known missense c.3322 p.A1108S 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 tier1 - - 31 0 0.00 45 19 29.69 ANAPC4 0 genome.wustl.edu 37 4 25394002 25394002 + Missense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 4 25394002 25394002 C T SNP ANAPC4 ENST00000510092 human ensembl 74_37 +1 known missense c.748 p.R250W 1.000 pirsf_APC4_metazoa superfamily_WD40_repeat_dom,pirsf_APC4_metazoa - no_errors ANAPC4 HGNC ENSG00000053900 48 0 0.00 31 2 6.06 ANKRD20A8P 0 genome.wustl.edu 37 2 95481484 95481484 + RNA SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 95481484 95481484 G A SNP ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.592 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 tier1 - - 74 0 0.00 53 48 47.52 APBA3 0 genome.wustl.edu 37 19 3751454 3751454 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 3751454 3751454 C A SNP APBA3 ENST00000316757 human ensembl 74_37 -1 known missense c.1493 p.G498V 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA3 HGNC ENSG00000011132 tier1 - - 8 0 0.00 6 4 40.00 ARC 0 genome.wustl.edu 37 8 143695284 143695284 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 8 143695284 143695284 G T SNP ARC ENST00000356613 human ensembl 74_37 -1 known missense c.349 p.R117S 0.118 prints_Activity-reg_cytoskelet-assoc prints_Activity-reg_cytoskelet-assoc - no_errors ARC HGNC ENSG00000198576 tier1 - - 15 0 0.00 8 5 38.46 ARFGAP1 0 genome.wustl.edu 37 20 61917478 61917478 + Silent SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 20 61917478 61917478 G C SNP ARFGAP1 ENST00000370275 human ensembl 74_37 +1 known silent c.981 p.V327 0.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP1 HGNC ENSG00000101199 tier1 - - 21 0 0.00 11 8 42.11 ARG2 0 genome.wustl.edu 37 14 68113432 68113432 + Silent SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 14 68113432 68113432 G C SNP ARG2 ENST00000261783 human ensembl 74_37 +1 known silent c.594 p.L198 0.988 pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase - no_errors ARG2 HGNC ENSG00000081181 tier1 - - 95 0 0.00 48 37 43.53 ATM 0 genome.wustl.edu 37 11 108117828 108117828 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 108117828 108117828 G A SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.1039 p.E347K 1.000 superfamily_ARM-type_fold 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 - - 28 0 0.00 21 17 44.74 ATM 0 genome.wustl.edu 37 11 108117836 108117836 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 108117836 108117836 G A SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.1047 p.M349I 1.000 superfamily_ARM-type_fold 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 - - 29 0 0.00 21 13 38.24 ATP1A3 0 genome.wustl.edu 37 19 42474551 42474551 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 42474551 42474551 C A SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known missense c.2407 p.G803C 1.000 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_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 ATP1A3 HGNC ENSG00000105409 tier1 - - 58 0 0.00 45 14 23.73 ATP2B2 0 genome.wustl.edu 37 3 10392245 10392245 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 3 10392245 10392245 C A SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.2153 p.R718L 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 tier1 - - 35 0 0.00 1 23 95.83 ATP5C1 0 genome.wustl.edu 37 10 7848961 7848961 + RNA SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 10 7848961 7848961 C A SNP ATP5C1 ENST00000465936 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ATP5C1 HGNC ENSG00000165629 tier1 - - 68 0 0.00 53 38 41.76 ATP8B4 0 genome.wustl.edu 37 15 50168486 50168486 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 15 50168486 50168486 C A SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.3016 p.V1006F 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B4 HGNC ENSG00000104043 tier1 - - 33 0 0.00 20 21 51.22 ATXN10 0 genome.wustl.edu 37 22 46136258 46136258 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 22 46136258 46136258 G C SNP ATXN10 ENST00000252934 human ensembl 74_37 +1 known missense c.1013 p.R338P 0.869 superfamily_ARM-type_fold pfam_Ataxin-10_domain,superfamily_ARM-type_fold - no_errors ATXN10 HGNC ENSG00000130638 tier1 - - 38 0 0.00 31 26 45.61 BAI3 0 genome.wustl.edu 37 6 69665947 69665947 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 69665947 69665947 G T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.1227 p.W409C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 42 0 0.00 39 37 48.68 BAI3 0 genome.wustl.edu 37 6 70049228 70049228 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 70049228 70049228 G T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known silent c.3291 p.A1097 0.487 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 72 0 0.00 43 35 44.87 BANK1 0 genome.wustl.edu 37 4 102951371 102951371 + Nonsense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 4 102951371 102951371 C T SNP BANK1 ENST00000322953 human ensembl 74_37 +1 known nonsense c.1849 p.R617* 0.568 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 tier1 - - 40 0 0.00 6 27 81.82 BPIFC 0 genome.wustl.edu 37 22 32843205 32843205 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 22 32843205 32843205 G T SNP BPIFC ENST00000300399 human ensembl 74_37 -1 known missense c.368 p.P123Q 0.998 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFC HGNC ENSG00000184459 tier1 - - 62 0 0.00 35 32 47.76 BRF2 0 genome.wustl.edu 37 8 37702674 37702674 + Silent SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 8 37702674 37702674 C T SNP BRF2 ENST00000220659 human ensembl 74_37 -1 known silent c.594 p.E198 1.000 superfamily_Cyclin-like pfam_Znf_TFIIB,superfamily_Cyclin-like,pfscan_Znf_TFIIB - no_errors BRF2 HGNC ENSG00000104221 tier1 - - 29 0 0.00 110 24 17.91 BTG3 0 genome.wustl.edu 37 21 18981448 18981448 + Silent SNP A A G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 21 18981448 18981448 A G SNP BTG3 ENST00000339775 human ensembl 74_37 -1 known silent c.15 p.I5 1.000 pfam_Anti_prolifrtn,smart_Anti_prolifrtn pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors BTG3 HGNC ENSG00000154640 tier1 - - 34 0 0.00 24 19 44.19 BTRC 0 genome.wustl.edu 37 10 103310677 103310678 + RNA DEL TG TG - TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 10 103310677 103310678 TG - DEL BTRC ENST00000493877 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors BTRC HGNC ENSG00000166167 tier1 47 0 0.00 7 18 72.00 C12orf43 0 genome.wustl.edu 37 12 121442237 121442237 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 12 121442237 121442237 C A SNP C12orf43 ENST00000288757 human ensembl 74_37 -1 known missense c.508 p.D170Y 0.997 NULL NULL - no_errors C12orf43 HGNC ENSG00000157895 tier1 - - 50 0 0.00 21 24 53.33 C12orf50 0 genome.wustl.edu 37 12 88390397 88390397 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 12 88390397 88390397 G T SNP C12orf50 ENST00000298699 human ensembl 74_37 -1 known missense c.316 p.P106T 0.970 NULL NULL - no_errors C12orf50 HGNC ENSG00000165805 tier1 - - 34 0 0.00 27 19 41.30 C12orf55 0 genome.wustl.edu 37 12 96983278 96983278 + Missense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 12 96983278 96983278 C T SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.3149 p.S1050L 0.061 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 42 0 0.00 34 31 47.69 C6orf183 0 genome.wustl.edu 37 6 109575736 109575736 + RNA SNP T T C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 109575736 109575736 T C SNP C6orf183 ENST00000453496 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors C6orf183 HGNC ENSG00000243587 tier1 - - 60 0 0.00 27 18 40.00 CACNA1E 0 genome.wustl.edu 37 1 181685207 181685207 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 181685207 181685207 G T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known silent c.1257 p.R419 0.981 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 37 0 0.00 25 31 55.36 CACNA1E 0 genome.wustl.edu 37 1 181688895 181688895 + Silent SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 181688895 181688895 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known silent c.1647 p.V549 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 40 0 0.00 34 25 42.37 CALU 0 genome.wustl.edu 37 7 128388853 128388853 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 7 128388853 128388853 G T SNP CALU ENST00000479257 human ensembl 74_37 +1 known missense c.240 p.R80S 0.902 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALU HGNC ENSG00000128595 13 0 0.00 22 4 15.38 CATSPERG 0 genome.wustl.edu 37 19 38842979 38842979 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 38842979 38842979 G A SNP CATSPERG ENST00000409235 human ensembl 74_37 +1 known missense c.904 p.A302T 0.372 NULL NULL - no_errors CATSPERG HGNC ENSG00000099338 tier1 - - 38 0 0.00 52 4 7.14 CBFA2T3 0 genome.wustl.edu 37 16 88947723 88947723 + Frame_Shift_Del DEL C C - TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 88947723 88947723 C - DEL CBFA2T3 ENST00000268679 human ensembl 74_37 -1 known frame_shift_del c.1378 p.A460fs 0.000 prints_MTG16 pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 tier1 21 0 0.00 9 5 35.71 CBFA2T3 0 genome.wustl.edu 37 16 88947724 88947724 + Silent SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 88947724 88947724 G A SNP CBFA2T3 ENST00000268679 human ensembl 74_37 -1 known silent c.1377 p.S459 0.009 prints_MTG16 pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 tier1 rs2272437 - 22 0 0.00 10 5 33.33 CBWD1 0 genome.wustl.edu 37 9 121496 121496 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 9 121496 121496 G A SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known missense c.1159 p.R387C 0.388 NULL pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD1 HGNC ENSG00000172785 tier1 - - 495 0 0.00 205 180 46.75 CCDC175 0 genome.wustl.edu 37 14 59992116 59992116 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 14 59992116 59992116 G T SNP CCDC175 ENST00000281581 human ensembl 74_37 -1 known missense c.1879 p.Q627K 0.004 NULL superfamily_Prefoldin - no_errors CCDC175 HGNC ENSG00000151838 tier1 - - 43 0 0.00 37 25 40.32 CCDC87 0 genome.wustl.edu 37 11 66358083 66358083 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 66358083 66358083 C A SNP CCDC87 ENST00000333861 human ensembl 74_37 -1 known missense c.2404 p.G802W 1.000 pfam_MAP65_Ase1_PRC1 pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC ENSG00000182791 tier1 - - 23 0 0.00 20 7 25.93 CD6 0 genome.wustl.edu 37 11 60785799 60785799 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 60785799 60785799 G A SNP CD6 ENST00000313421 human ensembl 74_37 +1 known missense c.1876 p.G626R 0.998 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD6 HGNC ENSG00000013725 tier1 - - 57 0 0.00 2 28 93.33 CDC42BPB 0 genome.wustl.edu 37 14 103435036 103435036 + Silent SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 14 103435036 103435036 C A SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known silent c.2013 p.R671 0.290 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 tier1 - - 14 0 0.00 14 9 39.13 CDH2 0 genome.wustl.edu 37 18 25543357 25543357 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 18 25543357 25543357 G T SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known silent c.2478 p.A826 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 tier1 - - 31 0 0.00 24 4 14.29 CELF5 0 genome.wustl.edu 37 19 3285972 3285972 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 3285972 3285972 G T SNP CELF5 ENST00000292672 human ensembl 74_37 +1 known missense c.1135 p.A379S 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF5 HGNC ENSG00000161082 14 0 0.00 2 3 60.00 CEP85L 0 genome.wustl.edu 37 6 118786703 118786703 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 118786703 118786703 C A SNP CEP85L ENST00000368488 human ensembl 74_37 -1 known missense c.2292 p.E764D 0.995 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 tier1 - - 45 0 0.00 27 33 55.00 CES1P1 0 genome.wustl.edu 37 16 55806303 55806303 + RNA SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 55806303 55806303 G T SNP CES1P1 ENST00000571348 human ensembl 74_37 +1 known rna NULL NULL 0.970 - - - no_errors CES1P1 HGNC ENSG00000228695 tier1 - - 22 0 0.00 25 37 59.68 CHMP4C 0 genome.wustl.edu 37 8 82670388 82670388 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 8 82670388 82670388 G T SNP CHMP4C ENST00000297265 human ensembl 74_37 +1 known missense c.495 p.M165I 1.000 pfam_Snf7 pfam_Snf7 - no_errors CHMP4C HGNC ENSG00000164695 tier1 - - 14 0 0.00 8 9 52.94 CHPF 0 genome.wustl.edu 37 2 220404662 220404662 + Missense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 220404662 220404662 C T SNP CHPF ENST00000243776 human ensembl 74_37 -1 known missense c.1771 p.A591T 0.352 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CHPF HGNC ENSG00000123989 46 0 0.00 34 3 8.11 COG7 0 genome.wustl.edu 37 16 23464262 23464262 + Silent SNP A A G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 23464262 23464262 A G SNP COG7 ENST00000307149 human ensembl 74_37 -1 known silent c.54 p.N18 0.954 pfam_COG7 pfam_COG7 - no_errors COG7 HGNC ENSG00000168434 tier1 - - 50 0 0.00 12 9 42.86 COL6A5 0 genome.wustl.edu 37 3 130116450 130116450 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 3 130116450 130116450 G T SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.3592 p.G1198W 0.996 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 22 0 0.00 1 11 91.67 COMMD1 0 genome.wustl.edu 37 2 62363038 62363038 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 62363038 62363038 G C SNP COMMD1 ENST00000311832 human ensembl 74_37 +1 known missense c.535 p.E179Q 1.000 pfam_HCaRG pfam_HCaRG - no_errors COMMD1 HGNC ENSG00000173163 tier1 - - 79 0 0.00 44 64 59.26 CPXCR1 0 genome.wustl.edu 37 X 88008707 88008707 + Missense_Mutation SNP A A G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 X 88008707 88008707 A G SNP CPXCR1 ENST00000276127 human ensembl 74_37 +1 known missense c.292 p.R98G 0.302 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC ENSG00000147183 tier1 - - 19 0 0.00 1 22 95.65 CR2 0 genome.wustl.edu 37 1 207641998 207641998 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 207641998 207641998 G T SNP CR2 ENST00000367057 human ensembl 74_37 +1 known missense c.572 p.G191V 0.592 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 tier1 - - 72 0 0.00 50 4 7.41 CROCCP2 0 genome.wustl.edu 37 1 16945480 16945480 + RNA SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 16945480 16945480 C A SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 tier1 - - 140 0 0.00 136 21 13.38 CRX 0 genome.wustl.edu 37 19 48342913 48342913 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 48342913 48342913 C A SNP CRX ENST00000221996 human ensembl 74_37 +1 known missense c.589 p.P197T 1.000 pfam_Otx_TF_C pfam_Homeobox_dom,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors CRX HGNC ENSG00000105392 tier1 - - 43 0 0.00 6 14 70.00 CSF3R 0 genome.wustl.edu 37 1 36937913 36937913 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 36937913 36937913 C G SNP CSF3R ENST00000373103 human ensembl 74_37 -1 known missense c.923 p.R308P 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 tier1 - - 78 0 0.00 41 37 47.44 CSMD3 0 genome.wustl.edu 37 8 113569036 113569036 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 8 113569036 113569036 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.4190 p.T1397I 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 CSMD3 HGNC ENSG00000164796 tier1 - - 46 0 0.00 35 30 46.15 CUX2 0 genome.wustl.edu 37 12 111749974 111749974 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 12 111749974 111749974 G T SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.1971 p.Q657H 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 tier1 - - 8 0 0.00 8 10 55.56 CXADRP3 0 genome.wustl.edu 37 18 14478919 14478919 + RNA SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 18 14478919 14478919 G T SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CXADRP3 HGNC ENSG00000265766 tier1 - - 25 0 0.00 27 24 47.06 CYP2A13 0 genome.wustl.edu 37 19 41601712 41601712 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 41601712 41601712 C G SNP CYP2A13 ENST00000330436 human ensembl 74_37 +1 known missense c.1351 p.L451V 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 tier1 - - 91 0 0.00 112 8 6.67 DACH1 0 genome.wustl.edu 37 13 72131182 72131182 + Missense_Mutation SNP T T A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 13 72131182 72131182 T A SNP DACH1 ENST00000359684 human ensembl 74_37 -1 known missense c.1706 p.E569V 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 tier1 - - 30 0 0.00 2 20 90.91 DAPK1 0 genome.wustl.edu 37 9 90296515 90296515 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 9 90296515 90296515 C A SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known missense c.2198 p.P733H 0.521 superfamily_P-loop_NTPase pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 tier1 - - 46 0 0.00 9 12 57.14 DAPK1 0 genome.wustl.edu 37 9 90321949 90321949 + Frame_Shift_Del DEL C C - TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 9 90321949 90321949 C - DEL DAPK1 ENST00000469640 human ensembl 74_37 +1 known frame_shift_del c.4038 p.L1348fs 0.981 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 tier1 46 0 0.00 22 2 8.33 DARS2 0 genome.wustl.edu 37 1 173808541 173808541 + Missense_Mutation SNP A A G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 173808541 173808541 A G SNP DARS2 ENST00000361951 human ensembl 74_37 +1 known missense c.877 p.I293V 0.996 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asp-tRNA-ligase_IIb_bac/mt pfam_aa-tRNA-synt_II,pfam_GAD_dom,pfam_NA-bd_OB_tRNA,superfamily_GAD_dom,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-ligase_IIb_bac/mt - no_errors DARS2 HGNC ENSG00000117593 tier1 - - 52 0 0.00 38 4 9.52 DCAF12L2 0 genome.wustl.edu 37 X 125299265 125299265 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 X 125299265 125299265 C A SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.643 p.G215C 0.961 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 tier1 - - 67 0 0.00 4 39 90.70 DCDC1 0 genome.wustl.edu 37 11 30946948 30946948 + Nonsense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 30946948 30946948 C A SNP DCDC1 ENST00000339794 human ensembl 74_37 -1 known nonsense c.142 p.E48* 0.831 pfscan_Doublecortin_dom pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 35 0 0.00 8 17 68.00 DEFB136 0 genome.wustl.edu 37 8 11831522 11831522 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 8 11831522 11831522 C A SNP DEFB136 ENST00000382209 human ensembl 74_37 -1 known missense c.161 p.C54F 0.557 NULL NULL - no_errors DEFB136 HGNC ENSG00000205884 tier1 - - 32 0 0.00 4 19 82.61 DGKI 0 genome.wustl.edu 37 7 137172381 137172381 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 7 137172381 137172381 C G SNP DGKI ENST00000288490 human ensembl 74_37 -1 known missense c.2357 p.R786P 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 tier1 - - 17 0 0.00 14 9 39.13 DGKI 0 genome.wustl.edu 37 7 137284581 137284581 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 7 137284581 137284581 C A SNP DGKI ENST00000288490 human ensembl 74_37 -1 known missense c.1238 p.G413V 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 tier1 - - 16 0 0.00 8 14 63.64 DHPS 0 genome.wustl.edu 37 19 12792434 12792434 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 12792434 12792434 G T SNP DHPS ENST00000210060 human ensembl 74_37 -1 known missense c.147 p.F49L 0.838 pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase - no_errors DHPS HGNC ENSG00000095059 tier1 - - 49 0 0.00 29 25 46.30 DHX34 0 genome.wustl.edu 37 19 47870310 47870310 + Missense_Mutation SNP A A G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 47870310 47870310 A G SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known missense c.1666 p.T556A 1.000 superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 34 0 0.00 20 6 23.08 DMD 0 genome.wustl.edu 37 X 32490336 32490336 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 X 32490336 32490336 G T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.2894 p.P965H 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 32 0 0.00 5 32 86.49 DNAH12 0 genome.wustl.edu 37 3 57431006 57431006 + Silent SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 3 57431006 57431006 G A SNP DNAH12 ENST00000351747 human ensembl 74_37 -1 known silent c.4251 p.L1417 0.961 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 tier1 - - 39 0 0.00 2 40 95.24 DNMBP 0 genome.wustl.edu 37 10 101716195 101716195 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 10 101716195 101716195 C A SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.1036 p.A346S 0.000 superfamily_SH3_domain pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 tier1 - - 23 0 0.00 0 10 100.00 DPP6 0 genome.wustl.edu 37 7 154237656 154237656 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 7 154237656 154237656 G T SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.497 p.R166I 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 tier1 - - 12 0 0.00 3 10 76.92 DPY19L2P4 0 genome.wustl.edu 37 7 89748926 89748926 + RNA SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 7 89748926 89748926 C T SNP DPY19L2P4 ENST00000497063 human ensembl 74_37 +1 known rna NULL NULL 0.123 - - - no_errors DPY19L2P4 HGNC ENSG00000235436 16 0 0.00 115 8 6.45 DVL3 0 genome.wustl.edu 37 3 183882071 183882071 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 3 183882071 183882071 G A SNP DVL3 ENST00000313143 human ensembl 74_37 +1 known missense c.248 p.G83D 1.000 NULL pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 tier1 - - 27 0 0.00 13 67 83.75 ELMOD1 0 genome.wustl.edu 37 11 107518316 107518316 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 107518316 107518316 G T SNP ELMOD1 ENST00000265840 human ensembl 74_37 +1 known silent c.543 p.L181 0.997 pfam_Engulfment_cell_motility_ELMO pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD1 HGNC ENSG00000110675 tier1 - - 49 0 0.00 37 36 49.32 EMR3 0 genome.wustl.edu 37 19 14740853 14740853 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 14740853 14740853 G T SNP EMR3 ENST00000253673 human ensembl 74_37 -1 known missense c.1810 p.Q604K 0.993 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97 - no_errors EMR3 HGNC ENSG00000131355 tier1 - - 24 0 0.00 13 16 55.17 ENPP7 0 genome.wustl.edu 37 17 77707327 77707327 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 17 77707327 77707327 G C SNP ENPP7 ENST00000328313 human ensembl 74_37 +1 known missense c.275 p.G92A 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core - no_errors ENPP7 HGNC ENSG00000182156 tier1 - - 48 0 0.00 135 25 15.53 ENSG00000197182 0 genome.wustl.edu 37 22 46493817 46493817 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 22 46493817 46493817 G T SNP ENSG00000197182 ENST00000435439 human ensembl 74_37 +1 known missense c.11 p.R4L 0.000 NULL NULL - no_errors FLJ27365 Uniprot_gn ENSG00000197182 tier1 - - 33 0 0.00 18 14 43.75 ENSG00000205018 0 genome.wustl.edu 37 16 89017215 89017215 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 89017215 89017215 G C SNP ENSG00000205018 ENST00000378347 human ensembl 74_37 +1 putative missense c.689 p.R230P 0.832 NULL NULL - no_errors RP11-830F9.6 Clone_based_vega_gene ENSG00000205018 tier1 rs113408433 - 47 0 0.00 20 6 23.08 ENSG00000225891 0 genome.wustl.edu 37 1 26793763 26793764 + RNA INS - - A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 26793763 26793764 - A INS ENSG00000225891 ENST00000423060 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP3-476K8.3 Clone_based_vega_gene ENSG00000225891 tier1 45 0 0.00 34 4 10.53 ENSG00000251966 0 genome.wustl.edu 37 Y 10034012 10034012 + RNA DEL T T - TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 Y 10034012 10034012 T - DEL ENSG00000251966 ENST00000516157 human ensembl 74_37 +1 novel rna NULL NULL 0.001 - - - no_errors AC010970.1 Clone_based_ensembl_gene ENSG00000251966 tier1 57 0 0.00 3 3 50.00 EPB41L5 0 genome.wustl.edu 37 2 120922456 120922456 + Silent SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 120922456 120922456 G A SNP EPB41L5 ENST00000263713 human ensembl 74_37 +1 known silent c.1932 p.E644 1.000 NULL pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L5 HGNC ENSG00000115109 tier1 - - 40 0 0.00 3 17 85.00 EPPK1 0 genome.wustl.edu 37 8 144947157 144947157 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 8 144947157 144947157 G T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.265 p.R89 0.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 tier1 - - 64 0 0.00 51 34 40.00 EVPLL 0 genome.wustl.edu 37 17 18284783 18284783 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 17 18284783 18284783 G A SNP EVPLL ENST00000399134 human ensembl 74_37 +1 novel missense c.166 p.V56M 1.000 NULL NULL - no_errors EVPLL HGNC ENSG00000214860 tier1 - - 81 0 0.00 39 46 54.12 EXD1 0 genome.wustl.edu 37 15 41476502 41476502 + Missense_Mutation SNP T T G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 15 41476502 41476502 T G SNP EXD1 ENST00000314992 human ensembl 74_37 -1 known missense c.1172 p.N391T 0.001 NULL pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD1 HGNC ENSG00000178997 tier1 - - 51 0 0.00 38 24 38.71 EXOC6B 0 genome.wustl.edu 37 2 72606863 72606863 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 72606863 72606863 C A SNP EXOC6B ENST00000272427 human ensembl 74_37 -1 known missense c.2117 p.C706F 1.000 pfam_Sec15,pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6B HGNC ENSG00000144036 tier1 - - 29 0 0.00 17 17 50.00 EYS 0 genome.wustl.edu 37 6 65301594 65301594 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 65301594 65301594 G T SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.4166 p.A1389E 0.016 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 37 0 0.00 21 25 54.35 FAM172A 0 genome.wustl.edu 37 5 93217190 93217190 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 5 93217190 93217190 G T SNP FAM172A ENST00000395965 human ensembl 74_37 -1 known missense c.772 p.Q258K 1.000 NULL pfam_Arb2_domain - no_errors FAM172A HGNC ENSG00000113391 tier1 - - 51 0 0.00 34 5 12.82 FAM194A 0 genome.wustl.edu 37 3 150421606 150421606 + Missense_Mutation SNP T T A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 3 150421606 150421606 T A SNP FAM194A ENST00000295910 human ensembl 74_37 -1 known missense c.80 p.E27V 0.000 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 14 0 0.00 46 5 9.80 FAM65B 0 genome.wustl.edu 37 6 24875925 24875925 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 24875925 24875925 C A SNP FAM65B ENST00000259698 human ensembl 74_37 -1 known missense c.95 p.R32L 1.000 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 tier1 - - 21 0 0.00 28 15 34.88 FAM71D 0 genome.wustl.edu 37 14 67675093 67675093 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 14 67675093 67675093 G A SNP FAM71D ENST00000311864 human ensembl 74_37 +1 known missense c.1087 p.E363K 0.003 NULL pfam_DUF3699 - no_errors FAM71D HGNC ENSG00000172717 tier1 - - 34 0 0.00 23 17 42.50 FAM81A 0 genome.wustl.edu 37 15 59808891 59808891 + Silent SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 15 59808891 59808891 C A SNP FAM81A ENST00000288228 human ensembl 74_37 +1 known silent c.834 p.A278 0.968 superfamily_Ferritin-like_SF superfamily_Ferritin-like_SF - no_errors FAM81A HGNC ENSG00000157470 tier1 - - 19 0 0.00 7 7 50.00 FAM83B 0 genome.wustl.edu 37 6 54735047 54735047 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 54735047 54735047 G T SNP FAM83B ENST00000306858 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 15 0 0.00 18 2 10.00 FANK1 0 genome.wustl.edu 37 10 127686054 127686054 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 10 127686054 127686054 G T SNP FANK1 ENST00000368693 human ensembl 74_37 +1 known missense c.539 p.S180I 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3,prints_Ankyrin_rpt - no_errors FANK1 HGNC ENSG00000203780 tier1 - - 57 0 0.00 5 36 87.80 FBN3 0 genome.wustl.edu 37 19 8161811 8161811 + Nonsense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 8161811 8161811 G T SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known nonsense c.5367 p.C1789* 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 tier1 - - 20 0 0.00 7 9 56.25 FCRL2 0 genome.wustl.edu 37 1 157738276 157738276 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 157738276 157738276 C A SNP FCRL2 ENST00000361516 human ensembl 74_37 -1 known missense c.811 p.G271C 0.021 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL2 HGNC ENSG00000132704 tier1 - - 27 0 0.00 24 13 35.14 FCRL3 0 genome.wustl.edu 37 1 157659609 157659609 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 157659609 157659609 C G SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.1807 p.A603P 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 tier1 - - 55 0 0.00 21 11 34.38 FCRL3 0 genome.wustl.edu 37 1 157665953 157665953 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 157665953 157665953 G T SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.1009 p.R337S 0.000 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 tier1 - - 54 0 0.00 19 16 45.71 FES 0 genome.wustl.edu 37 15 91434332 91434332 + Silent SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 15 91434332 91434332 C T SNP FES ENST00000328850 human ensembl 74_37 +1 known silent c.1441 p.L481 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FES HGNC ENSG00000182511 tier1 - - 41 0 0.00 31 22 41.51 FLG 0 genome.wustl.edu 37 1 152280796 152280796 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 152280796 152280796 G T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6566 p.A2189E 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 193 0 0.00 180 89 33.09 FMN1 0 genome.wustl.edu 37 15 33261476 33261476 + Missense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 15 33261476 33261476 C T SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known missense c.1757 p.R586K 1.000 prints_Formin_Cappuccino_subfam pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 tier1 - - 68 0 0.00 46 33 41.77 FOXD4L1 0 genome.wustl.edu 37 2 114257058 114257059 + In_Frame_Ins INS - - GGC TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 114257058 114257059 - GGC INS FOXD4L1 ENST00000306507 human ensembl 74_37 +1 known in_frame_ins c.225_226 p.78in_frame_insG 0.000:0.003 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC ENSG00000184492 tier1 61 0 0.00 3 3 50.00 FREM2 0 genome.wustl.edu 37 13 39438592 39438592 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 13 39438592 39438592 C G SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.7832 p.P2611R 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 42 0 0.00 40 25 38.46 FSCB 0 genome.wustl.edu 37 14 44974273 44974273 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 14 44974273 44974273 C G SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.1918 p.E640Q 0.006 NULL NULL - no_errors FSCB HGNC ENSG00000189139 53 0 0.00 47 12 20.34 FUNDC2P2 0 genome.wustl.edu 37 2 84518478 84518478 + RNA SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 84518478 84518478 C T SNP FUNDC2P2 ENST00000331369 human ensembl 74_37 +1 known rna NULL NULL 0.256 - - - no_errors FUNDC2P2 HGNC ENSG00000182814 tier1 - - 41 0 0.00 26 18 40.91 GCDH 0 genome.wustl.edu 37 19 13008521 13008521 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 13008521 13008521 G T SNP GCDH ENST00000222214 human ensembl 74_37 +1 known missense c.1087 p.A363S 0.938 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors GCDH HGNC ENSG00000105607 tier1 - - 47 0 0.00 34 4 10.00 GDPD4 0 genome.wustl.edu 37 11 76954790 76954790 + Missense_Mutation SNP T T A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 76954790 76954790 T A SNP GDPD4 ENST00000376217 human ensembl 74_37 -1 known missense c.1190 p.N397I 0.982 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD4 HGNC ENSG00000178795 51 0 0.00 86 5 5.49 GLG1 0 genome.wustl.edu 37 16 74506261 74506261 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 74506261 74506261 G C SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known missense c.2101 p.Q701E 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 tier1 - - 88 0 0.00 58 50 46.30 GLRA3 0 genome.wustl.edu 37 4 175565081 175565081 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 4 175565081 175565081 C G SNP GLRA3 ENST00000274093 human ensembl 74_37 -1 known missense c.1251 p.M417I 1.000 superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA3 HGNC ENSG00000145451 tier1 - - 43 0 0.00 29 25 46.30 GOLGA6L6 0 genome.wustl.edu 37 15 20740459 20740461 + In_Frame_Del DEL TCG TCG - TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 TCG TCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 15 20740459 20740461 TCG 0 DEL GOLGA6L6 ENST00000427390 human ensembl 74_37 -1 known in_frame_del c.1291_1289 p.AK430in_frame_delE 0.966:0.963:0.960 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L6 HGNC ENSG00000215405 13 0 0.00 28 8 22.22 GREB1L 0 genome.wustl.edu 37 18 19020304 19020304 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 18 19020304 19020304 G T SNP GREB1L ENST00000424526 human ensembl 74_37 +1 known missense c.1024 p.G342C 0.999 NULL superfamily_P-loop_NTPase - no_errors GREB1L HGNC ENSG00000141449 tier1 - - 53 0 0.00 44 43 48.86 GRIN2B 0 genome.wustl.edu 37 12 13716394 13716394 + Silent SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 12 13716394 13716394 G A SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known silent c.3778 p.L1260 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 tier1 - - 31 0 0.00 16 21 56.76 GRM7 0 genome.wustl.edu 37 3 7188296 7188296 + Nonsense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 3 7188296 7188296 C A SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known nonsense c.677 p.S226* 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 - - 39 0 0.00 5 27 84.38 GRM7 0 genome.wustl.edu 37 3 7456848 7456848 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 3 7456848 7456848 C A SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known missense c.1172 p.T391K 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I 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 - - 56 0 0.00 5 31 86.11 GRM8 0 genome.wustl.edu 37 7 126883165 126883165 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 7 126883165 126883165 G A SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.94 p.H32Y 1.000 prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt_4 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 tier1 - - 22 0 0.00 21 15 41.67 GRTP1 0 genome.wustl.edu 37 13 114009757 114009757 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 13 114009757 114009757 C A SNP GRTP1 ENST00000375430 human ensembl 74_37 -1 known missense c.221 p.R74L 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors GRTP1 HGNC ENSG00000139835 tier1 - - 52 0 0.00 1 21 95.45 HCRTR1 0 genome.wustl.edu 37 1 32098083 32098083 + Silent SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 32098083 32098083 C A SNP HCRTR1 ENST00000373705 human ensembl 74_37 +1 known silent c.1134 p.G378 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors HCRTR1 HGNC ENSG00000121764 tier1 - - 42 0 0.00 23 20 46.51 HCRTR2 0 genome.wustl.edu 37 6 55128601 55128601 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 55128601 55128601 G T SNP HCRTR2 ENST00000370862 human ensembl 74_37 +1 known missense c.743 p.R248L 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt - no_errors HCRTR2 HGNC ENSG00000137252 tier1 - - 38 0 0.00 20 12 37.50 HECTD4 0 genome.wustl.edu 37 12 112673435 112673435 + Silent SNP T T A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 12 112673435 112673435 T A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known silent c.5082 p.G1694 0.086 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 27 0 0.00 21 17 44.74 HIP1 0 genome.wustl.edu 37 7 75186055 75186055 + Nonsense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 7 75186055 75186055 C A SNP HIP1 ENST00000336926 human ensembl 74_37 -1 known nonsense c.1642 p.E548* 0.997 NULL pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1 HGNC ENSG00000127946 tier1 - - 24 0 0.00 6 12 66.67 HIST1H1A 0 genome.wustl.edu 37 6 26017517 26017517 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 26017517 26017517 C G SNP HIST1H1A ENST00000244573 human ensembl 74_37 -1 known missense c.444 p.K148N 0.024 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1A HGNC ENSG00000124610 tier1 - - 44 0 0.00 56 24 29.63 HIST1H2BE 0 genome.wustl.edu 37 6 26184245 26184245 + Silent SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 26184245 26184245 C T SNP HIST1H2BE ENST00000356530 human ensembl 74_37 +1 known silent c.222 p.I74 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BE HGNC ENSG00000197697 tier1 - - 98 0 0.00 53 38 41.76 HLA-DPB1 0 genome.wustl.edu 37 6 33048746 33048746 + RNA SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 33048746 33048746 C A SNP HLA-DPB1 ENST00000478189 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HLA-DPB1 HGNC ENSG00000223865 tier1 - - 33 0 0.00 18 17 48.57 HMCN1 0 genome.wustl.edu 37 1 186135324 186135324 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 186135324 186135324 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.15328 p.E5110K 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 55 0 0.00 43 22 33.85 HOXD3 0 genome.wustl.edu 37 2 177034035 177034035 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 177034035 177034035 G T SNP HOXD3 ENST00000249440 human ensembl 74_37 +1 known missense c.193 p.G65C 0.945 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD3 HGNC ENSG00000128652 tier1 - - 47 0 0.00 4 32 88.89 HSP90AA4P 0 genome.wustl.edu 37 4 190395328 190395328 + RNA SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 4 190395328 190395328 C A SNP HSP90AA4P ENST00000378770 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors HSP90AA4P HGNC ENSG00000205100 tier1 - - 31 0 0.00 24 16 40.00 HYDIN 0 genome.wustl.edu 37 16 70874024 70874024 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 70874024 70874024 C A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.12986 p.G4329V 1.000 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 30 0 0.00 20 19 48.72 HYDIN 0 genome.wustl.edu 37 16 70891651 70891651 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 70891651 70891651 G T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.12252 p.I4084 0.992 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 77 0 0.00 79 25 24.04 IGSF23 0 genome.wustl.edu 37 19 45127033 45127033 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 45127033 45127033 C A SNP IGSF23 ENST00000402988 human ensembl 74_37 +1 known missense c.155 p.P52Q 0.015 pfscan_Ig-like_dom pfscan_Ig-like_dom - no_errors IGSF23 HGNC ENSG00000216588 tier1 - - 69 0 0.00 6 41 87.23 IL12RB1 0 genome.wustl.edu 37 19 18170809 18170809 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 18170809 18170809 G T SNP IL12RB1 ENST00000593993 human ensembl 74_37 -1 known silent c.1878 p.G626 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB1 HGNC ENSG00000096996 tier1 - - 25 0 0.00 24 14 36.84 IL1RAPL1 0 genome.wustl.edu 37 X 29301329 29301329 + Silent SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 X 29301329 29301329 C A SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known silent c.357 p.V119 0.989 smart_Ig_sub,pfscan_Ig-like_dom pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 tier1 - - 17 0 0.00 2 25 92.59 IL1RAPL2 0 genome.wustl.edu 37 X 104992962 104992962 + Missense_Mutation SNP A A C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 X 104992962 104992962 A C SNP IL1RAPL2 ENST00000344799 human ensembl 74_37 +1 known missense c.1058 p.Y353S 1.000 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ - no_errors IL1RAPL2 HGNC ENSG00000189108 tier1 - - 40 0 0.00 3 44 93.62 IMPG1 0 genome.wustl.edu 37 6 76640719 76640719 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 76640719 76640719 G T SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known missense c.2194 p.P732T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 tier1 - - 44 0 0.00 30 16 34.78 INHBE 0 genome.wustl.edu 37 12 57850479 57850479 + Missense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 12 57850479 57850479 C T SNP INHBE ENST00000266646 human ensembl 74_37 +1 known missense c.901 p.L301F 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu - no_errors INHBE HGNC ENSG00000139269 tier1 - - 18 0 0.00 13 10 41.67 INPP5F 0 genome.wustl.edu 37 10 121565957 121565957 + Nonsense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 10 121565957 121565957 C T SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known nonsense c.1405 p.Q469* 1.000 pfscan_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 tier1 - - 47 0 0.00 3 21 87.50 ITGAD 0 genome.wustl.edu 37 16 31426246 31426246 + Silent SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 31426246 31426246 C G SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known silent c.2217 p.P739 0.102 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 tier1 - - 41 0 0.00 25 20 44.44 ITK 0 genome.wustl.edu 37 5 156679678 156679678 + Nonsense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 5 156679678 156679678 C A SNP ITK ENST00000422843 human ensembl 74_37 +1 known nonsense c.1853 p.S618* 0.388 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 tier1 - - 37 0 0.00 0 14 100.00 JAKMIP1 0 genome.wustl.edu 37 4 6050609 6050609 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 4 6050609 6050609 C A SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.2003 p.G668V 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 tier1 - - 54 0 0.00 4 25 86.21 JAKMIP1 0 genome.wustl.edu 37 4 6050610 6050610 + Nonsense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 4 6050610 6050610 C A SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known nonsense c.2002 p.G668* 0.991 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 tier1 - - 56 0 0.00 4 24 85.71 JMJD6 0 genome.wustl.edu 37 17 74714728 74714728 + Missense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 17 74714728 74714728 C T SNP JMJD6 ENST00000585429 human ensembl 74_37 -1 putative missense c.1156 p.D386N 0.004 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD6 HGNC ENSG00000070495 tier1 - - 30 0 0.00 40 10 20.00 JMJD6 0 genome.wustl.edu 37 17 74714927 74714927 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 17 74714927 74714927 C G SNP JMJD6 ENST00000445478 human ensembl 74_37 -1 known missense c.1096 p.E366Q 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD6 HGNC ENSG00000070495 tier1 - - 61 0 0.00 92 39 29.77 KANK1 0 genome.wustl.edu 37 9 734666 734666 + RNA DEL A A - TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 9 734666 734666 A - DEL KANK1 ENST00000489369 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors KANK1 HGNC ENSG00000107104 tier1 33 0 0.00 12 4 25.00 KDELC1 0 genome.wustl.edu 37 13 103443452 103443452 + Silent SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 13 103443452 103443452 C A SNP KDELC1 ENST00000376004 human ensembl 74_37 -1 known silent c.882 p.T294 0.192 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC1 HGNC ENSG00000134901 tier1 - - 19 0 0.00 3 14 82.35 KIAA1324L 0 genome.wustl.edu 37 7 86577054 86577054 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 7 86577054 86577054 G C SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known missense c.495 p.D165E 0.988 superfamily_Growth_fac_rcpt_N_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 tier1 - - 17 0 0.00 12 11 47.83 KIF13B 0 genome.wustl.edu 37 8 28981543 28981543 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 8 28981543 28981543 C A SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known missense c.3350 p.R1117L 0.960 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 33 0 0.00 27 2 6.90 KIF17 0 genome.wustl.edu 37 1 20990952 20990952 + RNA SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 20990952 20990952 G C SNP KIF17 ENST00000477167 human ensembl 74_37 -1 known rna NULL NULL 0.077 - - - no_errors KIF17 HGNC ENSG00000117245 tier1 - - 19 0 0.00 13 10 43.48 KIR3DX1 0 genome.wustl.edu 37 19 55053772 55053772 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 55053772 55053772 G T SNP KIR3DX1 ENST00000221567 human ensembl 74_37 +1 known missense c.1040 p.C347F 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors KIR3DX1 HGNC ENSG00000104970 tier1 - - 61 0 0.00 28 22 44.00 KNDC1 0 genome.wustl.edu 37 10 135015190 135015190 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 10 135015190 135015190 G T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.3181 p.G1061W 0.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 tier1 - - 20 0 0.00 7 11 61.11 KRTAP5-11 0 genome.wustl.edu 37 11 71293036 71293036 + RNA SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 71293036 71293036 G T SNP KRTAP5-11 ENST00000526239 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KRTAP5-11 HGNC ENSG00000204571 tier1 - - 11 0 0.00 14 25 64.10 LAMA5 0 genome.wustl.edu 37 20 60895671 60895671 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 20 60895671 60895671 C A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.6703 p.V2235L 0.000 pfam_Laminin_I pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 - - 22 0 0.00 13 4 23.53 LCP1 0 genome.wustl.edu 37 13 46718648 46718648 + Silent SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 13 46718648 46718648 C A SNP LCP1 ENST00000323076 human ensembl 74_37 -1 known silent c.1182 p.T394 0.005 superfamily_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_EF_hand_dom,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors LCP1 HGNC ENSG00000136167 tier1 - - 54 0 0.00 42 26 38.24 LDHAL6CP 0 genome.wustl.edu 37 12 63397777 63397777 + RNA SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 12 63397777 63397777 C G SNP LDHAL6CP ENST00000550738 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LDHAL6CP HGNC ENSG00000250517 tier1 - - 26 0 0.00 15 17 51.52 LILRB1 0 genome.wustl.edu 37 19 55144634 55144634 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 55144634 55144634 C G SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known missense c.1126 p.Q376E 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 tier1 - - 66 0 0.00 77 5 6.10 LILRB1 0 genome.wustl.edu 37 19 55147341 55147341 + RNA SNP A A G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 55147341 55147341 A G SNP LILRB1 ENST00000462628 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LILRB1 HGNC ENSG00000104972 tier1 rs201477561 - 24 0 0.00 35 7 16.67 LOC100133091 0 genome.wustl.edu 37 7 76178978 76178978 + RNA SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 7 76178978 76178978 G C SNP LOC100133091 ENST00000418663 human ensembl 74_37 +1 known rna NULL NULL 0.918 - - - no_errors AC004980.7 Clone_based_vega_gene ENSG00000205485 tier1 - - 16 0 0.00 3 13 81.25 LOC100996870 0 genome.wustl.edu 37 9 66466602 66466602 + RNA SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 9 66466602 66466602 C T SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 tier1 - - 8 0 0.00 5 5 50.00 LOC101927345 0 genome.wustl.edu 37 1 143394128 143394128 + RNA SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 143394128 143394128 C A SNP LOC101927345 ENST00000415543 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 173 0 0.00 268 33 10.93 LOXHD1 0 genome.wustl.edu 37 18 44125297 44125297 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 18 44125297 44125297 C G SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known missense c.3602 p.G1201A 1.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 tier1 - - 77 0 0.00 8 33 80.49 LPCAT2 0 genome.wustl.edu 37 16 55616969 55616969 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 55616969 55616969 G C SNP LPCAT2 ENST00000262134 human ensembl 74_37 +1 known missense c.1594 p.E532Q 0.994 NULL pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 tier1 - - 34 0 0.00 17 12 41.38 LRP1B 0 genome.wustl.edu 37 2 141816620 141816620 + Nonsense_Mutation SNP T T A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 141816620 141816620 T A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known nonsense c.1240 p.R414* 0.956 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 16 0 0.00 3 7 70.00 LRRC37A3 0 genome.wustl.edu 37 17 62856576 62856576 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 17 62856576 62856576 C G SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known missense c.3688 p.A1230P 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 tier1 - - 61 0 0.00 62 26 29.55 LRRC4B 0 genome.wustl.edu 37 19 51021614 51021614 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 51021614 51021614 G C SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.1356 p.N452K 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 tier1 - - 48 0 0.00 14 31 68.89 LRRC63 0 genome.wustl.edu 37 13 46808427 46808427 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 13 46808427 46808427 G T SNP LRRC63 ENST00000446175 human ensembl 74_37 +1 known missense c.933 p.M311I 0.011 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC63 HGNC ENSG00000173988 tier1 - - 39 0 0.00 31 29 48.33 MAB21L2 0 genome.wustl.edu 37 4 151504491 151504491 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 4 151504491 151504491 G A SNP MAB21L2 ENST00000317605 human ensembl 74_37 +1 known missense c.310 p.D104N 1.000 pfam_Mab-21_dom pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC ENSG00000181541 tier1 - - 32 0 0.00 11 15 57.69 MAGEB6 0 genome.wustl.edu 37 X 26212334 26212334 + Missense_Mutation SNP A A C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 X 26212334 26212334 A C SNP MAGEB6 ENST00000379034 human ensembl 74_37 +1 known missense c.371 p.Y124S 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 tier1 rs143802048 - 29 0 0.00 4 29 87.88 MAGEL2 0 genome.wustl.edu 37 15 23889959 23889959 + Silent SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 15 23889959 23889959 C T SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known silent c.1122 p.R374 0.001 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 tier1 - - 12 0 0.00 9 5 35.71 MAGI2 0 genome.wustl.edu 37 7 77797398 77797398 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 7 77797398 77797398 C A SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.2431 p.G811C 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 tier1 - - 75 0 0.00 40 37 48.05 MALAT1 0 genome.wustl.edu 37 11 65266761 65266761 + RNA SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 65266761 65266761 C G SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 53 0 0.00 60 4 6.25 MARCH1 0 genome.wustl.edu 37 4 164533852 164533852 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 4 164533852 164533852 G T SNP MARCH1 ENST00000514618 human ensembl 74_37 -1 novel missense c.581 p.P194Q 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH1 HGNC ENSG00000145416 tier1 - - 51 0 0.00 49 23 31.94 MARVELD2 0 genome.wustl.edu 37 5 68715944 68715944 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 5 68715944 68715944 G T SNP MARVELD2 ENST00000325631 human ensembl 74_37 +1 known silent c.732 p.G244 0.998 pfam_Marvel pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel - no_errors MARVELD2 HGNC ENSG00000152939 tier1 - - 85 0 0.00 10 44 81.48 MCL1 0 genome.wustl.edu 37 1 150550893 150550893 + Missense_Mutation SNP T T G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 150550893 150550893 T G SNP MCL1 ENST00000369026 human ensembl 74_37 -1 known missense c.763 p.S255R 1.000 pfam_Blc2_fam,pfscan_Bcl2-like,prints_Apop_reg_Mc1,prints_Blc2_fam pfam_Blc2_fam,pfscan_Bcl2-like,prints_Apop_reg_Mc1,prints_Blc2_fam - no_errors MCL1 HGNC ENSG00000143384 tier1 - - 41 0 0.00 22 12 35.29 MEOX1 0 genome.wustl.edu 37 17 41738714 41738714 + Missense_Mutation SNP T T A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 17 41738714 41738714 T A SNP MEOX1 ENST00000549132 human ensembl 74_37 -1 known missense c.101 p.Q34L 0.394 NULL superfamily_Homeodomain-like,pfscan_Homeobox_dom - no_errors MEOX1 HGNC ENSG00000005102 tier1 - - 54 0 0.00 30 36 54.55 METTL3 0 genome.wustl.edu 37 14 21971933 21971933 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 14 21971933 21971933 G T SNP METTL3 ENST00000298717 human ensembl 74_37 -1 known missense c.192 p.S64R 0.985 NULL pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL3 HGNC ENSG00000165819 36 0 0.00 53 3 5.36 MICAL1 0 genome.wustl.edu 37 6 109767598 109767598 + Missense_Mutation SNP A A T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 109767598 109767598 A T SNP MICAL1 ENST00000368952 human ensembl 74_37 -1 known missense c.2379 p.S793R 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 tier1 - - 50 0 0.00 42 36 46.15 MIR770 0 genome.wustl.edu 37 14 101318813 101318813 + RNA SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 14 101318813 101318813 G T SNP MIR770 ENST00000390219 human ensembl 74_37 +1 known rna NULL NULL 0.924 - - - no_errors MIR770 HGNC ENSG00000211574 tier1 - - 18 0 0.00 19 12 38.71 MKRN3 0 genome.wustl.edu 37 15 23811871 23811871 + Nonsense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 15 23811871 23811871 C A SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known nonsense c.942 p.C314* 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 tier1 - - 32 0 0.00 17 23 57.50 MKX 0 genome.wustl.edu 37 10 28023695 28023695 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 10 28023695 28023695 G C SNP MKX ENST00000375790 human ensembl 74_37 -1 known missense c.528 p.H176Q 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MKX HGNC ENSG00000150051 tier1 - - 56 0 0.00 29 22 43.14 MROH7-TTC4 0 genome.wustl.edu 37 1 55118958 55118958 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 55118958 55118958 G A SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known missense c.359 p.R120H 0.000 NULL superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 tier1 - - 21 0 0.00 13 10 43.48 MTCH1 0 genome.wustl.edu 37 6 36938400 36938400 + RNA SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 36938400 36938400 G A SNP MTCH1 ENST00000492754 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTCH1 HGNC ENSG00000137409 tier1 - - 13 0 0.00 15 9 37.50 MTMR3 0 genome.wustl.edu 37 22 30414035 30414035 + Silent SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 22 30414035 30414035 C T SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known silent c.1794 p.T598 0.993 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 tier1 - - 64 0 0.00 38 15 28.30 MTRR 0 genome.wustl.edu 37 5 7897311 7897311 + Nonsense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 5 7897311 7897311 C T SNP MTRR ENST00000264668 human ensembl 74_37 +1 known nonsense c.1984 p.Q662* 0.315 pfam_OxRdtase_FAD/NAD-bd pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors MTRR HGNC ENSG00000124275 40 0 0.00 72 4 5.26 MTUS2 0 genome.wustl.edu 37 13 30072650 30072650 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 13 30072650 30072650 G C SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.3804 p.K1268N 1.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 10 0 0.00 13 18 58.06 MYADML 0 genome.wustl.edu 37 2 33952528 33952528 + RNA SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 33952528 33952528 G T SNP MYADML ENST00000474610 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MYADML HGNC ENSG00000239649 tier1 - - 25 0 0.00 21 33 61.11 MYCBP2 0 genome.wustl.edu 37 13 77673124 77673124 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 13 77673124 77673124 G A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.8165 p.S2722F 0.531 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 tier1 - - 70 0 0.00 11 29 70.73 MYF6 0 genome.wustl.edu 37 12 81102703 81102704 + Frame_Shift_Ins INS - - A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 12 81102703 81102704 - A INS MYF6 ENST00000228641 human ensembl 74_37 +1 known frame_shift_ins c.693_694 p.L232fs 1.000:1.000 NULL pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYF6 HGNC ENSG00000111046 tier1 65 0 0.00 50 36 41.86 MYH13 0 genome.wustl.edu 37 17 10219245 10219245 + Missense_Mutation SNP A A T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 17 10219245 10219245 A T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.3836 p.M1279K 0.998 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 tier1 - - 70 0 0.00 30 29 49.15 MYLK 0 genome.wustl.edu 37 3 123419172 123419172 + Missense_Mutation SNP T T C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 3 123419172 123419172 T C SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.3143 p.K1048R 0.003 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 tier1 - - 48 0 0.00 11 16 59.26 NAA11 0 genome.wustl.edu 37 4 80246777 80246777 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 4 80246777 80246777 G T SNP NAA11 ENST00000286794 human ensembl 74_37 -1 known silent c.255 p.G85 1.000 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA11 HGNC ENSG00000156269 tier1 - - 36 0 0.00 16 11 40.74 NCAPH 0 genome.wustl.edu 37 2 97008912 97008912 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 97008912 97008912 G T SNP NCAPH ENST00000240423 human ensembl 74_37 +1 known silent c.465 p.A155 0.608 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 - no_errors NCAPH HGNC ENSG00000121152 tier1 - - 42 0 0.00 27 20 42.55 NCOA3 0 genome.wustl.edu 37 20 46256687 46256687 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 20 46256687 46256687 G T SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known missense c.743 p.C248F 1.000 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 tier1 - - 22 0 0.00 16 17 51.52 NDC80 0 genome.wustl.edu 37 18 2590098 2590098 + Nonsense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 18 2590098 2590098 G T SNP NDC80 ENST00000261597 human ensembl 74_37 +1 known nonsense c.952 p.E318* 1.000 NULL pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC ENSG00000080986 tier1 - - 36 0 0.00 36 16 30.77 NDUFC1 0 genome.wustl.edu 37 4 140216938 140216938 + Silent SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 4 140216938 140216938 G A SNP NDUFC1 ENST00000265500 human ensembl 74_37 -1 known silent c.15 p.A5 0.000 NULL NULL - no_errors NDUFC1 HGNC ENSG00000109390 13 0 0.00 1 6 85.71 NEGR1 0 genome.wustl.edu 37 1 72241972 72241972 + Missense_Mutation SNP T T G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 72241972 72241972 T G SNP NEGR1 ENST00000357731 human ensembl 74_37 -1 known missense c.418 p.K140Q 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NEGR1 HGNC ENSG00000172260 tier1 - - 32 0 0.00 12 18 60.00 NELL2 0 genome.wustl.edu 37 12 45059341 45059341 + Missense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 12 45059341 45059341 C T SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known missense c.1520 p.C507Y 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 24 0 0.00 27 2 6.90 NINJ1 0 genome.wustl.edu 37 9 95888702 95888702 + Silent SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 9 95888702 95888702 G A SNP NINJ1 ENST00000375446 human ensembl 74_37 -1 known silent c.294 p.L98 1.000 pfam_Ninjurin pfam_Ninjurin - no_errors NINJ1 HGNC ENSG00000131669 tier1 - - 26 0 0.00 1 13 92.86 NIPBL 0 genome.wustl.edu 37 5 37014784 37014784 + Splice_Site SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 5 37014784 37014784 G T SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known splice_site c.4561-1 e21-1 1.000 - - - no_errors NIPBL HGNC ENSG00000164190 tier1 - - 24 0 0.00 29 13 30.95 NOL12 0 genome.wustl.edu 37 22 38083951 38083951 + Nonsense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 22 38083951 38083951 G T SNP NOL12 ENST00000359114 human ensembl 74_37 +1 known nonsense c.118 p.E40* 1.000 pfam_Nucleolar_protein_12 pfam_Nucleolar_protein_12 - no_errors NOL12 HGNC ENSG00000100101 tier1 - - 36 0 0.00 30 25 45.45 NOTCH3 0 genome.wustl.edu 37 19 15285174 15285174 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 15285174 15285174 C A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.4441 p.D1481Y 0.996 pirsf_Notch,pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pfscan_Notch_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,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_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 - - 31 0 0.00 24 14 36.84 NPAP1 0 genome.wustl.edu 37 15 24922115 24922115 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 15 24922115 24922115 C A SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.1101 p.H367Q 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 - - 18 0 0.00 12 9 42.86 NRK 0 genome.wustl.edu 37 X 105125725 105125725 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 X 105125725 105125725 C G SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.205 p.R69G 0.704 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 tier1 - - 52 0 0.00 9 45 83.33 NRXN1 0 genome.wustl.edu 37 2 50280637 50280637 + Silent SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 50280637 50280637 C A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.3876 p.L1292 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 44 0 0.00 57 27 31.76 NRXN3 0 genome.wustl.edu 37 14 80328302 80328302 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 14 80328302 80328302 G T SNP NRXN3 ENST00000335750 human ensembl 74_37 +1 known missense c.3181 p.V1061L 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 tier1 - - 10 0 0.00 7 4 36.36 NUAK2 0 genome.wustl.edu 37 1 205275371 205275371 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 205275371 205275371 C G SNP NUAK2 ENST00000367157 human ensembl 74_37 -1 known missense c.635 p.S212T 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK2 HGNC ENSG00000163545 tier1 - - 51 0 0.00 4 26 86.67 NUCB2 0 genome.wustl.edu 37 11 17333611 17333611 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 17333611 17333611 G T SNP NUCB2 ENST00000323688 human ensembl 74_37 +1 known missense c.856 p.D286Y 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NUCB2 HGNC ENSG00000070081 tier1 - - 77 0 0.00 11 103 90.35 NUTM2A 0 genome.wustl.edu 37 10 88994911 88994911 + Silent SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 10 88994911 88994911 G A SNP NUTM2A ENST00000381689 human ensembl 74_37 +1 novel silent c.1889 p.*630 0.004 NULL NULL - no_errors NUTM2A HGNC ENSG00000184923 tier1 - - 96 0 0.00 7 45 86.54 OBP2A 0 genome.wustl.edu 37 9 138439805 138439805 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 9 138439805 138439805 G C SNP OBP2A ENST00000342114 human ensembl 74_37 +1 known missense c.232 p.A78P 0.000 NULL superfamily_Calycin-like - no_errors OBP2A HGNC ENSG00000122136 tier1 - - 15 0 0.00 2 10 83.33 OBSCN 0 genome.wustl.edu 37 1 228470840 228470840 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 228470840 228470840 G T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.8592 p.K2864N 0.986 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 37 0 0.00 8 13 61.90 OGDHL 0 genome.wustl.edu 37 10 50951964 50951964 + RNA SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 10 50951964 50951964 C A SNP OGDHL ENST00000496884 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors OGDHL HGNC ENSG00000197444 tier1 - - 11 0 0.00 1 11 91.67 OR12D3 0 genome.wustl.edu 37 6 29342679 29342679 + Missense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 29342679 29342679 C T SNP OR12D3 ENST00000396806 human ensembl 74_37 -1 known missense c.386 p.R129H 0.349 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR12D3 HGNC ENSG00000112462 tier1 - - 29 0 0.00 33 18 35.29 OR2J2 0 genome.wustl.edu 37 6 29142185 29142185 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 29142185 29142185 G T SNP OR2J2 ENST00000377167 human ensembl 74_37 +1 known missense c.773 p.C258F 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2J2 HGNC ENSG00000204700 tier1 - - 67 0 0.00 50 47 48.45 OR2T2 0 genome.wustl.edu 37 1 248617052 248617052 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 248617052 248617052 G T SNP OR2T2 ENST00000342927 human ensembl 74_37 +1 known silent c.954 p.A318 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 tier1 - - 58 0 0.00 8 28 77.78 OR5T2 0 genome.wustl.edu 37 11 56000131 56000131 + Silent SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 56000131 56000131 G C SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known silent c.531 p.P177 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 tier1 - - 71 0 0.00 66 47 41.59 OR6C65 0 genome.wustl.edu 37 12 55794493 55794493 + Missense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 12 55794493 55794493 C T SNP OR6C65 ENST00000379665 human ensembl 74_37 +1 known missense c.181 p.L61F 0.972 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR6C65 HGNC ENSG00000205328 tier1 - - 21 0 0.00 21 11 34.38 OR6T1 0 genome.wustl.edu 37 11 123814164 123814164 + Nonsense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 123814164 123814164 G A SNP OR6T1 ENST00000321252 human ensembl 74_37 -1 known nonsense c.382 p.R128* 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6T1 HGNC ENSG00000181499 tier1 - - 41 0 0.00 33 50 60.24 OR8K5 0 genome.wustl.edu 37 11 55927473 55927473 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 55927473 55927473 G C SNP OR8K5 ENST00000313447 human ensembl 74_37 -1 known missense c.321 p.F107L 0.026 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 OR8K5 HGNC ENSG00000181752 tier1 - - 27 0 0.00 23 23 50.00 OTOGL 0 genome.wustl.edu 37 12 80615872 80615872 + Silent SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 12 80615872 80615872 C T SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known silent c.309 p.I103 0.892 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 tier1 - - 12 0 0.00 15 14 48.28 OVCH1 0 genome.wustl.edu 37 12 29617440 29617440 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 12 29617440 29617440 C A SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known missense c.2125 p.D709Y 0.993 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 tier1 - - 36 0 0.00 22 30 57.69 PALM2-AKAP2 0 genome.wustl.edu 37 9 112898644 112898644 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 9 112898644 112898644 G C SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.820 p.E274Q 0.988 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 tier1 - - 40 0 0.00 4 24 85.71 PAPPA 0 genome.wustl.edu 37 9 118982241 118982241 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 9 118982241 118982241 G T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known silent c.1944 p.T648 0.995 pfam_Peptidase_M43 pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 tier1 - - 28 0 0.00 3 15 83.33 PAXIP1 0 genome.wustl.edu 37 7 154785468 154785468 + Silent SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 7 154785468 154785468 C T SNP PAXIP1 ENST00000397192 human ensembl 74_37 -1 known silent c.228 p.V76 1.000 superfamily_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 tier1 - - 17 0 0.00 2 9 81.82 PCDH15 0 genome.wustl.edu 37 10 56106232 56106232 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 10 56106232 56106232 C A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.487 p.G163C 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 48 0 0.00 4 29 87.88 PCDHA2 0 genome.wustl.edu 37 5 140176748 140176748 + Silent SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 5 140176748 140176748 G A SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known silent c.2199 p.A733 0.022 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 tier1 - - 51 0 0.00 37 25 40.32 PCDHA9 0 genome.wustl.edu 37 5 140229769 140229769 + Silent SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 5 140229769 140229769 G C SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.1689 p.P563 0.005 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 tier1 - - 92 0 0.00 42 48 53.33 PCDHAC2 0 genome.wustl.edu 37 5 140347251 140347251 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 5 140347251 140347251 G T SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known silent c.900 p.T300 0.005 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 tier1 - - 20 0 0.00 9 14 60.87 PCDHB13 0 genome.wustl.edu 37 5 140594187 140594187 + Silent SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 5 140594187 140594187 C A SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known silent c.492 p.G164 0.003 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 tier1 - - 35 0 0.00 25 24 48.98 PCDHB6 0 genome.wustl.edu 37 5 140531971 140531971 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 5 140531971 140531971 G T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known silent c.2133 p.L711 0.998 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 tier1 - - 138 0 0.00 80 54 40.30 PCDHB7 0 genome.wustl.edu 37 5 140554449 140554449 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 5 140554449 140554449 C A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.2033 p.P678Q 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 tier1 - - 116 0 0.00 74 47 38.84 PCDHGC5 0 genome.wustl.edu 37 5 140869552 140869552 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 5 140869552 140869552 G T SNP PCDHGC5 ENST00000252087 human ensembl 74_37 +1 known missense c.745 p.V249L 1.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 tier1 - - 53 0 0.00 25 19 43.18 PCNT 0 genome.wustl.edu 37 21 47775526 47775526 + Nonsense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 21 47775526 47775526 G T SNP PCNT ENST00000359568 human ensembl 74_37 +1 known nonsense c.1921 p.E641* 0.002 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 tier1 - - 29 0 0.00 15 16 51.61 PCNT 0 genome.wustl.edu 37 21 47775529 47775529 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 21 47775529 47775529 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.1924 p.G642R 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 tier1 - - 26 0 0.00 16 14 46.67 PCSK5 0 genome.wustl.edu 37 9 78547359 78547359 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 9 78547359 78547359 C G SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.257 p.S86W 0.999 superfamily_Prot_inh_propept pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 tier1 - - 50 0 0.00 5 34 87.18 PEX5L 0 genome.wustl.edu 37 3 179519471 179519471 + RNA SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 3 179519471 179519471 C T SNP PEX5L ENST00000467440 human ensembl 74_37 -1 known rna NULL NULL 0.099 - - - no_errors PEX5L HGNC ENSG00000114757 tier1 - - 48 0 0.00 104 33 24.09 PHF2 0 genome.wustl.edu 37 9 96438978 96438979 + Frame_Shift_Ins INS - - G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 9 96438978 96438979 - G INS PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_ins c.2935_2936 p.T979fs 0.993:1.000 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 45 0 0.00 18 3 14.29 PHF21B 0 genome.wustl.edu 37 22 45309806 45309806 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 22 45309806 45309806 C G SNP PHF21B ENST00000313237 human ensembl 74_37 -1 known missense c.727 p.E243Q 0.992 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 tier1 - - 68 0 0.00 58 35 37.63 PIK3R6 0 genome.wustl.edu 37 17 8736255 8736255 + Silent SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 17 8736255 8736255 C T SNP PIK3R6 ENST00000311434 human ensembl 74_37 -1 known silent c.753 p.L251 1.000 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R6 HGNC ENSG00000174083 tier1 - - 62 0 0.00 21 18 46.15 PLCZ1 0 genome.wustl.edu 37 12 18889200 18889200 + Missense_Mutation SNP T T A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 12 18889200 18889200 T A SNP PLCZ1 ENST00000266505 human ensembl 74_37 -1 known missense c.90 p.K30N 0.994 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC ENSG00000139151 tier1 - - 64 0 0.00 38 36 48.65 PLEKHG5 0 genome.wustl.edu 37 1 6534123 6534123 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 6534123 6534123 C A SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known missense c.778 p.A260S 0.097 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 tier1 - - 34 0 0.00 15 11 42.31 PLS1 0 genome.wustl.edu 37 3 142395088 142395088 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 3 142395088 142395088 G A SNP PLS1 ENST00000337777 human ensembl 74_37 +1 known missense c.454 p.D152N 0.463 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_EF_hand_dom,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors PLS1 HGNC ENSG00000120756 tier1 - - 38 0 0.00 59 13 18.06 PLXND1 0 genome.wustl.edu 37 3 129288754 129288754 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 3 129288754 129288754 C G SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.3797 p.G1266A 0.993 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 tier1 - - 17 0 0.00 2 7 77.78 POLE 0 genome.wustl.edu 37 12 133201572 133201572 + Silent SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 12 133201572 133201572 C A SNP POLE ENST00000320574 human ensembl 74_37 -1 known silent c.6666 p.L2222 0.236 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 tier1 - - 30 0 0.00 14 15 51.72 POLR1C 0 genome.wustl.edu 37 6 43484854 43484854 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 43484854 43484854 G T SNP POLR1C ENST00000372389 human ensembl 74_37 +1 known missense c.7 p.A3S 1.000 NULL pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR1C HGNC ENSG00000171453 tier1 - - 31 0 0.00 21 29 58.00 PPP1CA 0 genome.wustl.edu 37 11 67168163 67168163 + Nonsense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 67168163 67168163 C A SNP PPP1CA ENST00000312989 human ensembl 74_37 -1 known nonsense c.448 p.E150* 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CA HGNC ENSG00000172531 tier1 - - 31 0 0.00 105 20 16.00 PRIM2 0 genome.wustl.edu 37 6 57372336 57372336 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 57372336 57372336 C A SNP PRIM2 ENST00000607273 human ensembl 74_37 +1 known missense c.742 p.P248T 1.000 pfam_DNA_primase_lsu_euk/arc pfam_DNA_primase_lsu_euk/arc - no_errors PRIM2 HGNC ENSG00000146143 tier1 - - 67 0 0.00 72 13 15.29 PRKCB 0 genome.wustl.edu 37 16 24135161 24135161 + Silent SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 24135161 24135161 C A SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known silent c.924 p.A308 1.000 pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 tier1 - - 89 0 0.00 50 31 38.27 PROSER1 0 genome.wustl.edu 37 13 39586248 39586248 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 13 39586248 39586248 G A SNP PROSER1 ENST00000352251 human ensembl 74_37 -1 known missense c.2684 p.A895V 1.000 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 tier1 - - 28 0 0.00 42 4 8.70 PRR15 0 genome.wustl.edu 37 7 29606258 29606258 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 7 29606258 29606258 G T SNP PRR15 ENST00000319694 human ensembl 74_37 +1 known missense c.313 p.A105S 1.000 NULL NULL - no_errors PRR15 HGNC ENSG00000176532 tier1 - - 27 0 0.00 3 10 76.92 PRR23A 0 genome.wustl.edu 37 3 138724356 138724356 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 3 138724356 138724356 G T SNP PRR23A ENST00000383163 human ensembl 74_37 -1 known missense c.755 p.P252Q 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23A HGNC ENSG00000206260 tier1 - - 41 0 0.00 25 61 70.93 PRRT1 0 genome.wustl.edu 37 6 32119803 32119803 + RNA SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 32119803 32119803 G A SNP PRRT1 ENST00000486917 human ensembl 74_37 -1 known rna NULL NULL 0.578 - - - no_errors PRRT1 HGNC ENSG00000204314 tier1 - - 24 0 0.00 7 15 68.18 PRRT3 0 genome.wustl.edu 37 3 9991025 9991025 + Missense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 3 9991025 9991025 C T SNP PRRT3 ENST00000295984 human ensembl 74_37 -1 known missense c.775 p.E259K 0.729 NULL NULL - no_errors PRRT3 HGNC ENSG00000163704 tier1 - - 25 0 0.00 3 14 82.35 PRSS35 0 genome.wustl.edu 37 6 84233745 84233745 + Missense_Mutation SNP T T A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 84233745 84233745 T A SNP PRSS35 ENST00000369700 human ensembl 74_37 +1 known missense c.585 p.S195R 0.001 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors PRSS35 HGNC ENSG00000146250 tier1 - - 39 0 0.00 21 17 44.74 PSPH 0 genome.wustl.edu 37 7 56087300 56087300 + Missense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 7 56087300 56087300 C T SNP PSPH ENST00000275605 human ensembl 74_37 -1 known missense c.268 p.G90S 0.998 pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PSPH HGNC ENSG00000146733 45 0 0.00 205 32 13.50 PTCHD2 0 genome.wustl.edu 37 1 11580782 11580782 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 11580782 11580782 G T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.2239 p.A747S 1.000 pfam_Patched pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 tier1 - - 22 0 0.00 9 10 52.63 PTGDR2 0 genome.wustl.edu 37 11 60620689 60620689 + Silent SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 60620689 60620689 G A SNP PTGDR2 ENST00000332539 human ensembl 74_37 -1 known silent c.507 p.F169 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Anphylx_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt - no_errors PTGDR2 HGNC ENSG00000183134 tier1 - - 39 0 0.00 4 16 80.00 PYCRL 0 genome.wustl.edu 37 8 144688255 144688255 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 8 144688255 144688255 G A SNP PYCRL ENST00000220966 human ensembl 74_37 -1 known missense c.655 p.R219C 1.000 superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCRL HGNC ENSG00000104524 tier1 - - 92 0 0.00 43 30 41.10 RABGGTB 0 genome.wustl.edu 37 1 76253024 76253024 + RNA SNP A A G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 76253024 76253024 A G SNP RABGGTB ENST00000471759 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RABGGTB HGNC ENSG00000137955 tier1 - - 15 0 0.00 13 9 40.91 RADIL 0 genome.wustl.edu 37 7 4874577 4874577 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 7 4874577 4874577 C A SNP RADIL ENST00000445392 human ensembl 74_37 -1 known missense c.1072 p.A358S 0.001 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 tier1 - - 23 0 0.00 14 10 41.67 RAET1K 0 genome.wustl.edu 37 6 150321319 150321319 + RNA SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 150321319 150321319 G C SNP RAET1K ENST00000533735 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RAET1K HGNC ENSG00000218358 tier1 - - 90 0 0.00 82 10 10.87 RALYL 0 genome.wustl.edu 37 8 85774568 85774568 + Missense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 8 85774568 85774568 C T SNP RALYL ENST00000521268 human ensembl 74_37 +1 known missense c.451 p.R151C 0.997 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC ENSG00000184672 tier1 - - 51 0 0.00 25 19 43.18 RASGRP3 0 genome.wustl.edu 37 2 33764169 33764169 + Silent SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 33764169 33764169 C A SNP RASGRP3 ENST00000402538 human ensembl 74_37 +1 known silent c.1170 p.T390 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP3 HGNC ENSG00000152689 tier1 - - 24 0 0.00 21 21 50.00 RBMXL3 0 genome.wustl.edu 37 X 114424215 114424215 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 X 114424215 114424215 G T SNP RBMXL3 ENST00000424776 human ensembl 74_37 +1 known missense c.211 p.G71C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 tier1 - - 11 0 0.00 0 13 100.00 REXO1L1 0 genome.wustl.edu 37 8 86575214 86575214 + Silent SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 8 86575214 86575214 C A SNP REXO1L1 ENST00000379010 human ensembl 74_37 -1 putative silent c.513 p.T171 0.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1L1 HGNC ENSG00000205176 tier1 - - 97 0 0.00 57 20 25.97 RFTN1 0 genome.wustl.edu 37 3 16419499 16419499 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 3 16419499 16419499 G T SNP RFTN1 ENST00000334133 human ensembl 74_37 -1 known silent c.552 p.T184 0.000 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 tier1 - - 20 0 0.00 1 11 91.67 RFX8 0 genome.wustl.edu 37 2 102029526 102029526 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 102029526 102029526 C G SNP RFX8 ENST00000376826 human ensembl 74_37 -1 known missense c.908 p.R303P 0.658 NULL pfam_DNA-bd_RFX - no_errors RFX8 HGNC ENSG00000196460 tier1 - - 30 0 0.00 17 49 74.24 RHBDF1 0 genome.wustl.edu 37 16 109825 109825 + Splice_Site SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 109825 109825 C A SNP RHBDF1 ENST00000262316 human ensembl 74_37 -1 known splice_site c.1723-1 e13-1 1.000 - - - no_errors RHBDF1 HGNC ENSG00000007384 tier1 - - 31 0 0.00 23 18 43.90 RHBDF1 0 genome.wustl.edu 37 16 112579 112579 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 112579 112579 C G SNP RHBDF1 ENST00000262316 human ensembl 74_37 -1 known missense c.910 p.G304R 0.811 pfam_Rhomboid_SP pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC ENSG00000007384 tier1 - - 50 0 0.00 25 31 55.36 RHOJ 0 genome.wustl.edu 37 14 63757700 63757700 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 14 63757700 63757700 G T SNP RHOJ ENST00000316754 human ensembl 74_37 +1 known missense c.603 p.K201N 0.997 superfamily_P-loop_NTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOJ HGNC ENSG00000126785 29 0 0.00 33 2 5.56 RIBC2 0 genome.wustl.edu 37 22 45821879 45821879 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 22 45821879 45821879 G C SNP RIBC2 ENST00000538017 human ensembl 74_37 +1 known missense c.712 p.D238H 0.952 pfam_RIB43A pfam_RIB43A - no_errors RIBC2 HGNC ENSG00000128408 tier1 - - 29 0 0.00 10 7 41.18 RNF17 0 genome.wustl.edu 37 13 25367319 25367319 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 13 25367319 25367319 C A SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known missense c.1075 p.P359T 0.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 tier1 - - 37 0 0.00 29 19 39.58 RNF213 0 genome.wustl.edu 37 17 78261934 78261934 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 17 78261934 78261934 G T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.582 p.P194 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 8 0 0.00 42 5 10.64 RNF5 0 genome.wustl.edu 37 6 32147865 32147865 + Missense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 32147865 32147865 C T SNP RNF5 ENST00000427134 human ensembl 74_37 +1 known missense c.407 p.T136I 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF5 HGNC ENSG00000204308 22 0 0.00 27 2 6.90 RRN3P1 0 genome.wustl.edu 37 16 21817466 21817466 + RNA SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 21817466 21817466 G A SNP RRN3P1 ENST00000546471 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RRN3P1 HGNC ENSG00000248124 tier1 - - 49 0 0.00 77 9 10.47 SCARB2 0 genome.wustl.edu 37 4 77095377 77095377 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 4 77095377 77095377 G A SNP SCARB2 ENST00000264896 human ensembl 74_37 -1 known missense c.914 p.T305M 0.001 pfam_CD36,prints_LimpII pfam_CD36,superfamily_NA-bd_OB-fold,prints_LimpII,prints_CD36,prints_CD36_antigen - no_errors SCARB2 HGNC ENSG00000138760 20 0 0.00 37 2 5.13 SEL1L2 0 genome.wustl.edu 37 20 13830032 13830032 + RNA SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 20 13830032 13830032 C A SNP SEL1L2 ENST00000482196 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SEL1L2 HGNC ENSG00000101251 tier1 - - 44 0 0.00 6 28 82.35 SERPINA4 0 genome.wustl.edu 37 14 95030234 95030234 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 14 95030234 95030234 G A SNP SERPINA4 ENST00000298841 human ensembl 74_37 +1 known missense c.415 p.V139M 0.016 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA4 HGNC ENSG00000100665 tier1 - - 35 0 0.00 33 23 41.07 SETBP1 0 genome.wustl.edu 37 18 42456562 42456562 + Silent SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 18 42456562 42456562 G A SNP SETBP1 ENST00000426838 human ensembl 74_37 +1 known silent c.573 p.K191 0.000 NULL NULL - no_errors SETBP1 HGNC ENSG00000152217 tier1 - - 93 0 0.00 7 50 87.72 SEZ6L2 0 genome.wustl.edu 37 16 29909173 29909173 + Splice_Site SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 29909173 29909173 C G SNP SEZ6L2 ENST00000308713 human ensembl 74_37 -1 known splice_site c.211+1 e2+1 1.000 - - - no_errors SEZ6L2 HGNC ENSG00000174938 tier1 - - 21 0 0.00 12 11 47.83 SHANK2 0 genome.wustl.edu 37 11 70332808 70332808 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 70332808 70332808 C G SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.3593 p.G1198A 0.739 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 tier1 - - 46 0 0.00 145 17 10.49 SHROOM4 0 genome.wustl.edu 37 X 50350728 50350729 + In_Frame_Ins INS - - TCC TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 X 50350728 50350729 - TCC INS SHROOM4 ENST00000289292 human ensembl 74_37 -1 known in_frame_ins c.3414_3413 p.1142in_frame_insE 0.000:0.000 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 tier1 9 0 0.00 5 4 44.44 SLC17A4 0 genome.wustl.edu 37 6 25773853 25773853 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 25773853 25773853 C G SNP SLC17A4 ENST00000377905 human ensembl 74_37 +1 known missense c.938 p.A313G 0.001 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 tier1 - - 67 0 0.00 100 30 23.08 SLC22A1 0 genome.wustl.edu 37 6 160575942 160575942 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 160575942 160575942 G C SNP SLC22A1 ENST00000366963 human ensembl 74_37 +1 known missense c.1498 p.A500P 1.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A1 HGNC ENSG00000175003 tier1 - - 84 0 0.00 40 38 48.72 SLC6A19 0 genome.wustl.edu 37 5 1221849 1221849 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 5 1221849 1221849 C A SNP SLC6A19 ENST00000304460 human ensembl 74_37 +1 known missense c.1735 p.P579T 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A19 HGNC ENSG00000174358 tier1 - - 38 0 0.00 29 32 52.46 SLC6A9 0 genome.wustl.edu 37 1 44476525 44476525 + Silent SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 44476525 44476525 C T SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known silent c.279 p.K93 1.000 prints_Na/ntran_symport_glycine_GLY1 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 tier1 - - 62 0 0.00 62 6 8.82 SLCO1C1 0 genome.wustl.edu 37 12 20876174 20876174 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 12 20876174 20876174 C A SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.1172 p.A391D 1.000 pfam_OA_transporter,pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 tier1 - - 64 0 0.00 36 26 41.94 SMARCAL1 0 genome.wustl.edu 37 2 217280027 217280027 + Silent SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 217280027 217280027 G A SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known silent c.600 p.S200 0.000 NULL pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 tier1 - - 24 0 0.00 30 21 41.18 SMG8 0 genome.wustl.edu 37 17 57289759 57289759 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 17 57289759 57289759 G T SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known missense c.1817 p.R606L 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 tier1 - - 38 0 0.00 28 27 48.21 SMYD1 0 genome.wustl.edu 37 2 88383991 88383991 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 88383991 88383991 G T SNP SMYD1 ENST00000419482 human ensembl 74_37 +1 known missense c.294 p.K98N 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 tier1 - - 37 0 0.00 20 23 53.49 SMYD5 0 genome.wustl.edu 37 2 73441790 73441790 + RNA SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 73441790 73441790 C T SNP SMYD5 ENST00000474652 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SMYD5 HGNC ENSG00000135632 tier1 - - 40 0 0.00 20 34 62.96 SNHG14 0 genome.wustl.edu 37 15 25432588 25432588 + RNA SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 15 25432588 25432588 G A SNP SNHG14 ENST00000424208 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 42 0 0.00 36 24 40.00 SNHG14 0 genome.wustl.edu 37 15 25463800 25463800 + RNA SNP A A C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 15 25463800 25463800 A C SNP SNHG14 ENST00000365067 human ensembl 74_37 +1 known rna NULL NULL 0.406 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 86 0 0.00 44 36 45.00 SNX17 0 genome.wustl.edu 37 2 27599346 27599346 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 27599346 27599346 G C SNP SNX17 ENST00000233575 human ensembl 74_37 +1 known missense c.1258 p.E420Q 1.000 NULL pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX17 HGNC ENSG00000115234 tier1 - - 49 0 0.00 31 44 57.89 SNX20 0 genome.wustl.edu 37 16 50707505 50707505 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 50707505 50707505 G C SNP SNX20 ENST00000330943 human ensembl 74_37 -1 known missense c.763 p.Q255E 0.495 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX20 HGNC ENSG00000167208 tier1 - - 29 0 0.00 18 15 45.45 SOCS5 0 genome.wustl.edu 37 2 46986133 46986133 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 46986133 46986133 G C SNP SOCS5 ENST00000306503 human ensembl 74_37 +1 known missense c.464 p.R155P 0.999 pfam_SOCS pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS5 HGNC ENSG00000171150 tier1 - - 39 0 0.00 35 20 36.36 SOX30 0 genome.wustl.edu 37 5 157075856 157075856 + Missense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 5 157075856 157075856 C T SNP SOX30 ENST00000265007 human ensembl 74_37 -1 known missense c.1016 p.R339Q 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX30 HGNC ENSG00000039600 tier1 - - 67 0 0.00 29 33 53.23 SP140L 0 genome.wustl.edu 37 2 231249995 231249995 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 231249995 231249995 C G SNP SP140L ENST00000415673 human ensembl 74_37 +1 known missense c.760 p.L254V 0.001 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,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,pfscan_Bromodomain - no_errors SP140L HGNC ENSG00000185404 tier1 - - 25 0 0.00 28 28 50.00 SPAG17 0 genome.wustl.edu 37 1 118584486 118584486 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 118584486 118584486 G T SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known silent c.2994 p.V998 0.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 tier1 - - 88 0 0.00 58 46 44.23 SPECC1L 0 genome.wustl.edu 37 22 24718230 24718230 + Missense_Mutation SNP A A G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 22 24718230 24718230 A G SNP SPECC1L ENST00000314328 human ensembl 74_37 +1 known missense c.1282 p.T428A 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 tier1 - - 26 0 0.00 14 20 58.82 SPI1 0 genome.wustl.edu 37 11 47380277 47380278 + Frame_Shift_Del DEL CA CA - TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 47380277 47380278 CA - DEL SPI1 ENST00000533968 human ensembl 74_37 -1 putative frame_shift_del c.611_610 p.C204fs 0.001:0.001 NULL NULL - no_errors SPI1 HGNC ENSG00000066336 tier1 25 0 0.00 20 2 9.09 SPTBN4 0 genome.wustl.edu 37 19 41025381 41025381 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 41025381 41025381 G T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.2977 p.V993L 0.999 pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 tier1 - - 62 0 0.00 23 28 54.90 STON1-GTF2A1L 0 genome.wustl.edu 37 2 49003595 49003595 + RNA SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 49003595 49003595 G T SNP STON1-GTF2A1L ENST00000463040 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors STON1-GTF2A1L HGNC ENSG00000068781 tier1 - - 10 0 0.00 11 15 57.69 SUV420H2 0 genome.wustl.edu 37 19 55858816 55858816 + Nonstop_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 55858816 55858816 G T SNP SUV420H2 ENST00000255613 human ensembl 74_37 +1 known nonstop c.1388 p.*463L 0.019 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H2 HGNC ENSG00000133247 tier1 - - 17 0 0.00 4 8 66.67 SYCN 0 genome.wustl.edu 37 19 39694850 39694850 + Silent SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 39694850 39694850 G A SNP SYCN ENST00000318438 human ensembl 74_37 -1 known silent c.45 p.S15 0.003 NULL NULL - no_errors SYCN HGNC ENSG00000179751 tier1 - - 15 0 0.00 12 8 40.00 SYNE2 0 genome.wustl.edu 37 14 64421498 64421498 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 14 64421498 64421498 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.652 p.A218T 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 18 0 0.00 7 12 63.16 SYT3 0 genome.wustl.edu 37 19 51133168 51133168 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 51133168 51133168 C G SNP SYT3 ENST00000338916 human ensembl 74_37 -1 known missense c.935 p.G312A 1.000 superfamily_C2_dom,prints_Synaptotagmin pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT3 HGNC ENSG00000213023 tier1 - - 69 0 0.00 36 27 42.86 TANGO6 0 genome.wustl.edu 37 16 69007950 69007950 + Silent SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 69007950 69007950 C T SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known silent c.2721 p.D907 0.566 superfamily_ARM-type_fold pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 tier1 - - 38 0 0.00 42 28 40.00 TASP1 0 genome.wustl.edu 37 20 13539707 13539707 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 20 13539707 13539707 C A SNP TASP1 ENST00000337743 human ensembl 74_37 -1 known missense c.623 p.R208M 1.000 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors TASP1 HGNC ENSG00000089123 tier1 - - 38 0 0.00 4 25 86.21 TASP1 0 genome.wustl.edu 37 20 13539717 13539717 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 20 13539717 13539717 G C SNP TASP1 ENST00000337743 human ensembl 74_37 -1 known missense c.613 p.L205V 1.000 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors TASP1 HGNC ENSG00000089123 tier1 - - 39 0 0.00 5 24 82.76 TBC1D16 0 genome.wustl.edu 37 17 77916004 77916004 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 17 77916004 77916004 G T SNP TBC1D16 ENST00000310924 human ensembl 74_37 -1 known missense c.1910 p.T637K 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D16 HGNC ENSG00000167291 tier1 - - 12 0 0.00 13 39 75.00 TBC1D26 0 genome.wustl.edu 37 17 15641610 15641610 + Missense_Mutation SNP A A G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 17 15641610 15641610 A G SNP TBC1D26 ENST00000437605 human ensembl 74_37 +1 known missense c.296 p.Y99C 0.413 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D26 HGNC ENSG00000214946 65 0 0.00 63 4 5.97 TBX22 0 genome.wustl.edu 37 X 79282340 79282340 + Silent SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 X 79282340 79282340 C A SNP TBX22 ENST00000373294 human ensembl 74_37 +1 known silent c.771 p.T257 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 tier1 - - 26 0 0.00 1 17 94.44 TENM4 0 genome.wustl.edu 37 11 78383285 78383285 + Silent SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 78383285 78383285 C A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known silent c.5586 p.R1862 0.996 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 38 0 0.00 94 31 24.60 TENM4 0 genome.wustl.edu 37 11 78383286 78383286 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 78383286 78383286 C A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.5585 p.R1862L 0.999 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 38 0 0.00 99 31 23.85 TFAM 0 genome.wustl.edu 37 10 60148569 60148570 + Frame_Shift_Ins INS - - A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 10 60148569 60148570 - A INS TFAM ENST00000487519 human ensembl 74_37 +1 known frame_shift_ins c.431_432 p.E148fs 0.006:0.006 superfamily_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TFAM HGNC ENSG00000108064 tier1 31 0 0.00 23 3 11.54 TFF3 0 genome.wustl.edu 37 21 43735501 43735501 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 21 43735501 43735501 G C SNP TFF3 ENST00000291525 human ensembl 74_37 -1 known missense c.134 p.P45R 0.000 NULL pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,prints_P_trefoil_chordata - no_errors TFF3 HGNC ENSG00000160180 tier1 - - 88 0 0.00 34 41 54.67 TMEM39A 0 genome.wustl.edu 37 3 119156763 119156763 + Missense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 3 119156763 119156763 C T SNP TMEM39A ENST00000319172 human ensembl 74_37 -1 known missense c.763 p.A255T 0.988 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39A HGNC ENSG00000176142 tier1 - - 46 0 0.00 1 27 96.43 TMPRSS5 0 genome.wustl.edu 37 11 113569745 113569745 + Silent SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 113569745 113569745 C A SNP TMPRSS5 ENST00000299882 human ensembl 74_37 -1 known silent c.210 p.L70 0.998 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS5 HGNC ENSG00000166682 tier1 - - 38 0 0.00 13 29 69.05 TMPRSS6 0 genome.wustl.edu 37 22 37485698 37485698 + Silent SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 22 37485698 37485698 C A SNP TMPRSS6 ENST00000381792 human ensembl 74_37 -1 known silent c.756 p.L252 0.869 pirsf_Pept_S1A_matriptase-2,superfamily_CUB_dom pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS6 HGNC ENSG00000187045 tier1 - - 97 0 0.00 37 36 49.32 TP53 0 genome.wustl.edu 37 17 7577114 7577114 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 17 7577114 7577114 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.824 p.C275F 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 - - 313 0 0.00 190 172 47.38 TP53 0 genome.wustl.edu 37 17 7577547 7577547 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 17 7577547 7577547 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.734 p.G245V 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 - - 208 0 0.00 132 118 47.20 TRAPPC12 0 genome.wustl.edu 37 2 3425669 3425669 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 3425669 3425669 G T SNP TRAPPC12 ENST00000324266 human ensembl 74_37 +1 known missense c.1182 p.R394S 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TRAPPC12 HGNC ENSG00000171853 tier1 - - 24 0 0.00 21 13 38.24 TRIM67 0 genome.wustl.edu 37 1 231349582 231349582 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 231349582 231349582 G T SNP TRIM67 ENST00000366652 human ensembl 74_37 +1 known missense c.2145 p.K715N 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,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 - no_errors TRIM67 HGNC ENSG00000119283 tier1 - - 44 0 0.00 7 3 30.00 TRIML2 0 genome.wustl.edu 37 4 189026335 189026335 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 4 189026335 189026335 C A SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.38 p.R13M 0.978 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 tier1 - - 49 0 0.00 36 29 44.62 TSPEAR 0 genome.wustl.edu 37 21 45950950 45950950 + Silent SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 21 45950950 45950950 C A SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known silent c.609 p.R203 0.995 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 tier1 - - 44 0 0.00 38 19 33.33 TTN 0 genome.wustl.edu 37 2 179540441 179540441 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 179540441 179540441 G T SNP TTN ENST00000589042 human ensembl 74_37 -1 putative silent c.34494 p.V11498 0.847 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,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,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,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 - - 19 0 0.00 2 6 75.00 TTN 0 genome.wustl.edu 37 2 179579779 179579779 + Nonsense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 179579779 179579779 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.22402 p.E7468* 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 - - 27 0 0.00 2 22 91.67 TTN 0 genome.wustl.edu 37 2 179631333 179631333 + Missense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 179631333 179631333 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.9478 p.E3160K 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub 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 - - 19 0 0.00 4 12 75.00 TTN-AS1 0 genome.wustl.edu 37 2 179470053 179470053 + RNA SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 179470053 179470053 C A SNP TTN-AS1 ENST00000419746 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTN-AS1 HGNC ENSG00000237298 tier1 - - 35 0 0.00 3 22 88.00 TUBB8 0 genome.wustl.edu 37 10 93704 93704 + Missense_Mutation SNP T T C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 10 93704 93704 T C SNP TUBB8 ENST00000309812 human ensembl 74_37 -1 known missense c.628 p.I210V 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB8 HGNC ENSG00000173876 tier1 - - 102 0 0.00 54 53 49.53 TULP1 0 genome.wustl.edu 37 6 35471401 35471401 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 35471401 35471401 G C SNP TULP1 ENST00000229771 human ensembl 74_37 -1 known missense c.1258 p.R420G 1.000 pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C - no_errors TULP1 HGNC ENSG00000112041 tier1 - - 29 0 0.00 16 17 51.52 TULP4 0 genome.wustl.edu 37 6 158922786 158922786 + Silent SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 6 158922786 158922786 G A SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known silent c.2091 p.S697 1.000 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 tier1 - - 47 0 0.00 21 22 51.16 UGGT1 0 genome.wustl.edu 37 2 128877948 128877948 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 128877948 128877948 G T SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known silent c.891 p.L297 0.943 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 tier1 - - 49 0 0.00 3 18 85.71 UGGT1 0 genome.wustl.edu 37 2 128914889 128914889 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 2 128914889 128914889 G T SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known missense c.2324 p.R775L 1.000 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 tier1 - - 107 0 0.00 12 52 81.25 UGT2B15 0 genome.wustl.edu 37 4 69535727 69535727 + Missense_Mutation SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 4 69535727 69535727 C T SNP UGT2B15 ENST00000338206 human ensembl 74_37 -1 known missense c.610 p.D204N 0.998 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ENSG00000196620 tier1 - - 72 0 0.00 61 31 33.70 UGT8 0 genome.wustl.edu 37 4 115585172 115585172 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 4 115585172 115585172 G T SNP UGT8 ENST00000310836 human ensembl 74_37 +1 known missense c.844 p.G282C 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT8 HGNC ENSG00000174607 tier1 - - 32 0 0.00 27 18 40.00 UNC13B 0 genome.wustl.edu 37 9 35398978 35398978 + Silent SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 9 35398978 35398978 G T SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known silent c.3774 p.A1258 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 tier1 - - 48 0 0.00 4 17 80.95 UQCRC2 0 genome.wustl.edu 37 16 21964769 21964769 + Missense_Mutation SNP T T A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 21964769 21964769 T A SNP UQCRC2 ENST00000268379 human ensembl 74_37 +1 known missense c.25 p.S9T 0.622 NULL pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors UQCRC2 HGNC ENSG00000140740 tier1 - - 29 0 0.00 12 22 64.71 USP2 0 genome.wustl.edu 37 11 119243625 119243625 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 11 119243625 119243625 G A SNP USP2 ENST00000260187 human ensembl 74_37 -1 known missense c.566 p.A189V 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP2 HGNC ENSG00000036672 26 0 0.00 44 4 8.33 VN1R4 0 genome.wustl.edu 37 19 53770337 53770337 + Silent SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 53770337 53770337 G C SNP VN1R4 ENST00000311170 human ensembl 74_37 -1 known silent c.582 p.L194 0.962 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R4 HGNC ENSG00000228567 55 0 0.00 87 5 5.43 WASH6P 0 genome.wustl.edu 37 X 155252325 155252325 + RNA SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 X 155252325 155252325 C T SNP WASH6P ENST00000340131 human ensembl 74_37 +1 known rna NULL NULL 0.078 - - - no_errors WASH6P HGNC ENSG00000182484 tier1 - - 58 0 0.00 32 12 27.27 WDR66 0 genome.wustl.edu 37 12 122437781 122437781 + Missense_Mutation SNP G G C TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 12 122437781 122437781 G C SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known missense c.3166 p.G1056R 0.897 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 tier1 - - 24 0 0.00 15 17 53.12 WWC1 0 genome.wustl.edu 37 5 167881043 167881043 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 5 167881043 167881043 G A SNP WWC1 ENST00000265293 human ensembl 74_37 +1 known missense c.2596 p.G866R 0.441 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC1 HGNC ENSG00000113645 32 0 0.00 27 2 6.90 XKR4 0 genome.wustl.edu 37 8 56436366 56436366 + Silent SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 8 56436366 56436366 C G SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known silent c.1533 p.A511 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 tier1 - - 26 0 0.00 18 17 48.57 ZNF137P 0 genome.wustl.edu 37 19 53091854 53091854 + RNA SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 53091854 53091854 G T SNP ZNF137P ENST00000597158 human ensembl 74_37 +1 known rna NULL NULL 0.158 - - - no_errors ZNF137P HGNC ENSG00000123870 tier1 - - 16 0 0.00 16 5 23.81 ZNF200 0 genome.wustl.edu 37 16 3283513 3283513 + Silent SNP C C T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 3283513 3283513 C T SNP ZNF200 ENST00000414144 human ensembl 74_37 -1 known silent c.243 p.Q81 0.962 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF200 HGNC ENSG00000010539 46 0 0.00 47 3 6.00 ZNF415 0 genome.wustl.edu 37 19 53619674 53619674 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 53619674 53619674 C A SNP ZNF415 ENST00000243643 human ensembl 74_37 -1 known missense c.28 p.D10Y 0.132 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF415 HGNC ENSG00000170954 tier1 - - 31 0 0.00 27 32 54.24 ZNF425 0 genome.wustl.edu 37 7 148800755 148800755 + Silent SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 7 148800755 148800755 C A SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known silent c.2208 p.A736 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 tier1 - - 31 0 0.00 5 17 77.27 ZNF445 0 genome.wustl.edu 37 3 44491967 44491967 + Silent SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 3 44491967 44491967 C A SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known silent c.792 p.L264 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 tier1 - - 62 0 0.00 10 36 78.26 ZNF500 0 genome.wustl.edu 37 16 4803036 4803036 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 16 4803036 4803036 C A SNP ZNF500 ENST00000219478 human ensembl 74_37 -1 known missense c.784 p.G262C 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF500 HGNC ENSG00000103199 tier1 - - 37 0 0.00 19 26 57.78 ZNF528 0 genome.wustl.edu 37 19 52919741 52919741 + Missense_Mutation SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 52919741 52919741 G A SNP ZNF528 ENST00000360465 human ensembl 74_37 +1 known missense c.1636 p.E546K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF528 HGNC ENSG00000167555 tier1 - - 35 0 0.00 22 29 56.86 ZNF534 0 genome.wustl.edu 37 19 52954467 52954467 + Missense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 52954467 52954467 G T SNP ZNF534 ENST00000301085 human ensembl 74_37 +1 putative missense c.299 p.R100L 0.028 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF534 HGNC ENSG00000198633 tier1 - - 24 0 0.00 18 33 64.71 ZNF551 0 genome.wustl.edu 37 19 58198238 58198238 + Missense_Mutation SNP A A G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 58198238 58198238 A G SNP ZNF551 ENST00000282296 human ensembl 74_37 +1 known missense c.595 p.T199A 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF551 HGNC ENSG00000204519 tier1 - - 18 0 0.00 8 16 66.67 ZNF595 0 genome.wustl.edu 37 4 53332 53332 + RNA SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 4 53332 53332 G A SNP ZNF595 ENST00000339368 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF595 HGNC ENSG00000197701 tier1 - - 345 0 0.00 180 34 15.89 ZNF599 0 genome.wustl.edu 37 19 35258224 35258224 + Missense_Mutation SNP C C G TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 35258224 35258224 C G SNP ZNF599 ENST00000329285 human ensembl 74_37 -1 known missense c.238 p.A80P 0.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF599 HGNC ENSG00000153896 tier1 - - 39 0 0.00 15 22 59.46 ZNF729 0 genome.wustl.edu 37 19 22499579 22499579 + Silent SNP G G A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 22499579 22499579 G A SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel silent c.3360 p.T1120 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF729 HGNC ENSG00000196350 tier1 - - 34 0 0.00 18 21 53.85 ZNF750 0 genome.wustl.edu 37 17 80789738 80789738 + Nonsense_Mutation SNP G G T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 17 80789738 80789738 G T SNP ZNF750 ENST00000269394 human ensembl 74_37 -1 known nonsense c.593 p.S198* 0.998 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 tier1 - - 24 0 0.00 4 13 76.47 ZNF780A 0 genome.wustl.edu 37 19 40581754 40581754 + Missense_Mutation SNP C C A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 19 40581754 40581754 C A SNP ZNF780A ENST00000455521 human ensembl 74_37 -1 known missense c.598 p.G200W 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 ZNF780A HGNC ENSG00000197782 tier1 - - 57 0 0.00 42 32 43.24 ZRANB2 0 genome.wustl.edu 37 1 71535064 71535065 + RNA INS - - T TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 554d5940-81b2-4d30-8f95-ca4680d23b18 78f201b5-47a9-4fcc-bff1-a93fa936ed65 1 71535064 71535065 - T INS ZRANB2 ENST00000487510 human ensembl 74_37 -1 known rna NULL NULL 0.991:1.000 - - - no_errors ZRANB2 HGNC ENSG00000132485 tier1 43 0 0.00 43 4 8.51