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 AAMP 0 genome.wustl.edu 37 2 219131708 219131708 + Silent SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 2 219131708 219131708 G T SNP AAMP ENST00000248450 human ensembl 74_37 -1 known silent c.396 p.G132 0.995 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 AAMP HGNC ENSG00000127837 tier1 - - 39 0 0.00 43 5 10.42 ACTRT2 0 genome.wustl.edu 37 1 2938279 2938279 + Missense_Mutation SNP C C A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 1 2938279 2938279 C A SNP ACTRT2 ENST00000378404 human ensembl 74_37 +1 known missense c.29 p.P10Q 0.825 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT2 HGNC ENSG00000169717 46 0 0.00 32 2 5.88 ADAM22 0 genome.wustl.edu 37 7 87811331 87811331 + Frame_Shift_Del DEL T T - TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 7 87811331 87811331 T - DEL ADAM22 ENST00000265727 human ensembl 74_37 +1 known frame_shift_del c.2568 p.S857fs 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 tier1 28 0 0.00 29 2 6.45 ADAMTS13 0 genome.wustl.edu 37 9 136307831 136307831 + Missense_Mutation SNP C C G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 9 136307831 136307831 C G SNP ADAMTS13 ENST00000371929 human ensembl 74_37 +1 known missense c.2201 p.P734R 0.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 tier1 - - 45 0 0.00 17 18 51.43 ADAMTS19 0 genome.wustl.edu 37 5 129072769 129072769 + Missense_Mutation SNP C C G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 5 129072769 129072769 C G SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.3482 p.T1161S 1.000 pfscan_PLAC pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 tier1 - - 56 0 0.00 13 22 61.11 ADCYAP1R1 0 genome.wustl.edu 37 7 31123825 31123825 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 7 31123825 31123825 C T SNP ADCYAP1R1 ENST00000304166 human ensembl 74_37 +1 known missense c.398 p.A133V 0.940 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ENSG00000078549 tier1 - - 57 0 0.00 57 4 6.56 AKAP12 0 genome.wustl.edu 37 6 151673526 151673527 + Frame_Shift_Del DEL GA GA - TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 6 151673526 151673527 GA - DEL AKAP12 ENST00000253332 human ensembl 74_37 +1 known frame_shift_del c.4000_4001 p.E1336fs 0.002:0.006 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 tier1 42 0 0.00 27 2 6.90 AKNA 0 genome.wustl.edu 37 9 117106109 117106109 + RNA SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 9 117106109 117106109 G T SNP AKNA ENST00000492875 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AKNA HGNC ENSG00000106948 tier1 - - 52 0 0.00 61 4 6.06 ALG1L 0 genome.wustl.edu 37 3 125648300 125648300 + Silent SNP G G C TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 3 125648300 125648300 G C SNP ALG1L ENST00000340333 human ensembl 74_37 -1 known silent c.459 p.L153 0.991 NULL NULL - no_errors ALG1L HGNC ENSG00000189366 tier1 rs113713770 - 235 0 0.00 209 65 23.72 ALPK2 0 genome.wustl.edu 37 18 56149266 56149266 + Missense_Mutation SNP T T C TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 18 56149266 56149266 T C SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known missense c.6302 p.K2101R 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 tier1 - - 73 0 0.00 34 9 20.93 AMBRA1 0 genome.wustl.edu 37 11 46419421 46419421 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 46419421 46419421 C T SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known missense c.3476 p.G1159D 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 45 0 0.00 20 4 16.67 ANO1 0 genome.wustl.edu 37 11 69957845 69957845 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 69957845 69957845 G T SNP ANO1 ENST00000355303 human ensembl 74_37 +1 known missense c.832 p.A278S 0.957 NULL pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 47 0 0.00 41 3 6.82 APBB2 0 genome.wustl.edu 37 4 40895373 40895373 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 4 40895373 40895373 G A SNP APBB2 ENST00000295974 human ensembl 74_37 -1 known missense c.1307 p.P436L 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB2 HGNC ENSG00000163697 tier1 - - 92 0 0.00 63 18 22.22 APOL3 0 genome.wustl.edu 37 22 36537873 36537873 + Missense_Mutation SNP C C G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 22 36537873 36537873 C G SNP APOL3 ENST00000349314 human ensembl 74_37 -1 known missense c.584 p.G195A 0.038 pfam_ApoL pfam_ApoL - no_errors APOL3 HGNC ENSG00000128284 tier1 - - 22 0 0.00 14 9 39.13 ARHGAP24 0 genome.wustl.edu 37 4 86916404 86916404 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 4 86916404 86916404 G A SNP ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known missense c.1597 p.D533N 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 tier1 - - 65 0 0.00 35 4 10.26 ASAP1 0 genome.wustl.edu 37 8 131414169 131414169 + Missense_Mutation SNP C C G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 8 131414169 131414169 C G SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.21 p.R7S 1.000 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 tier1 - - 30 0 0.00 52 13 20.00 ATM 0 genome.wustl.edu 37 11 108137898 108137898 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 108137898 108137898 G A SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.2467 p.A823T 0.877 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 47 0 0.00 20 2 9.09 ATP10B 0 genome.wustl.edu 37 5 160067570 160067570 + Missense_Mutation SNP T T C TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 5 160067570 160067570 T C SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.898 p.S300G 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 tier1 - - 85 0 0.00 68 4 5.56 ATP2B3 0 genome.wustl.edu 37 X 152818513 152818513 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f X 152818513 152818513 G T SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.1844 p.S615I 0.349 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,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 ATP2B3 HGNC ENSG00000067842 tier1 - - 26 0 0.00 29 4 12.12 ATXN2L 0 genome.wustl.edu 37 16 28838251 28838251 + Missense_Mutation SNP C C G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 16 28838251 28838251 C G SNP ATXN2L ENST00000395547 human ensembl 74_37 +1 known missense c.685 p.Q229E 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 tier1 - - 47 0 0.00 32 26 44.83 BANK1 0 genome.wustl.edu 37 4 102984253 102984253 + Missense_Mutation SNP G G C TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 4 102984253 102984253 G C SNP BANK1 ENST00000322953 human ensembl 74_37 +1 known missense c.2170 p.D724H 0.992 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 tier1 - - 61 0 0.00 23 9 28.12 BCR 0 genome.wustl.edu 37 22 23610673 23610673 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 22 23610673 23610673 G A SNP BCR ENST00000305877 human ensembl 74_37 +1 known missense c.1831 p.A611T 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 27 0 0.00 36 2 5.26 C22orf34 0 genome.wustl.edu 37 22 50016807 50016807 + Frame_Shift_Del DEL A A - TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 22 50016807 50016807 A - DEL C22orf34 ENST00000444628 human ensembl 74_37 -1 known frame_shift_del c.1087 p.*363fs 0.014 NULL NULL - no_errors C22orf34 HGNC ENSG00000188511 tier1 43 0 0.00 30 2 6.25 C2orf76 0 genome.wustl.edu 37 2 120069281 120069282 + Splice_Site INS - - A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 2 120069281 120069282 - A INS C2orf76 ENST00000334816 human ensembl 74_37 -1 known splice_site_ins c.223-3_223-2 e4-2 0.984:0.405 - - - no_errors C2orf76 HGNC ENSG00000186132 tier1 28 0 0.00 45 6 11.76 C8orf34 0 genome.wustl.edu 37 8 69537880 69537880 + Silent SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 8 69537880 69537880 C T SNP C8orf34 ENST00000325233 human ensembl 74_37 +1 known silent c.69 p.S23 0.381 NULL NULL - no_errors C8orf34 HGNC ENSG00000165084 tier1 - - 49 0 0.00 73 7 8.75 CACNA1S 0 genome.wustl.edu 37 1 201027607 201027607 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 1 201027607 201027607 C T SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.3538 p.D1180N 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 tier1 - - 35 0 0.00 46 18 28.12 CASR 0 genome.wustl.edu 37 3 121994703 121994703 + Silent SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 3 121994703 121994703 G A SNP CASR ENST00000498619 human ensembl 74_37 +1 known silent c.1422 p.G474 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 tier1 - - 78 0 0.00 97 15 13.39 CCNC 0 genome.wustl.edu 37 6 99997423 99997423 + Missense_Mutation SNP C C G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 6 99997423 99997423 C G SNP CCNC ENST00000520429 human ensembl 74_37 -1 known missense c.559 p.D187H 1.000 superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC - no_errors CCNC HGNC ENSG00000112237 tier1 - - 40 0 0.00 14 3 17.65 CD3EAP 0 genome.wustl.edu 37 19 45912490 45912492 + In_Frame_Del DEL AAG AAG - TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 19 45912490 45912492 AAG - DEL CD3EAP ENST00000589804 human ensembl 74_37 +1 known in_frame_del c.1270_1272 p.K427in_frame_del 0.656:0.828:0.908 NULL pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 tier1 32 0 0.00 27 3 10.00 CD40LG 0 genome.wustl.edu 37 X 135738563 135738563 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f X 135738563 135738563 G A SNP CD40LG ENST00000370629 human ensembl 74_37 +1 known missense c.395 p.S132N 0.790 superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom,prints_TNF_ligand_5 - no_errors CD40LG HGNC ENSG00000102245 23 0 0.00 30 4 11.76 CDC25B 0 genome.wustl.edu 37 20 3782721 3782721 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 20 3782721 3782721 G A SNP CDC25B ENST00000245960 human ensembl 74_37 +1 known missense c.1072 p.E358K 0.426 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25B HGNC ENSG00000101224 tier1 - - 70 0 0.00 51 46 47.42 CEP350 0 genome.wustl.edu 37 1 179989590 179989590 + Missense_Mutation SNP A A G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 1 179989590 179989590 A G SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.2681 p.Q894R 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 22 0 0.00 38 2 5.00 COL18A1 0 genome.wustl.edu 37 21 46930153 46930153 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 21 46930153 46930153 C T SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.4916 p.A1639V 0.000 pfam_Collagenase_NC10/endostatin,superfamily_C-type_lectin_fold pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 tier1 - - 52 0 0.00 24 4 14.29 COL6A3 0 genome.wustl.edu 37 2 238277596 238277596 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 2 238277596 238277596 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.4510 p.R1504W 0.568 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 29 0 0.00 30 2 6.25 CTAG2 0 genome.wustl.edu 37 X 153881746 153881746 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f X 153881746 153881746 G A SNP CTAG2 ENST00000369585 human ensembl 74_37 -1 known missense c.44 p.A15V 0.000 NULL pfam_EKC/KEOPS_Pcc1 - no_errors CTAG2 HGNC ENSG00000126890 tier1 - - 25 0 0.00 13 4 23.53 DCDC1 0 genome.wustl.edu 37 11 31349672 31349672 + Silent SNP A A G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 31349672 31349672 A G SNP DCDC1 ENST00000452803 human ensembl 74_37 -1 known silent c.156 p.D52 0.064 NULL pfscan_Doublecortin_dom - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 58 0 0.00 33 9 20.93 DCTN1 0 genome.wustl.edu 37 2 74595885 74595885 + Silent SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 2 74595885 74595885 C T SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known silent c.1824 p.V608 0.996 pfam_Dynactin,superfamily_P-loop_NTPase pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 tier1 - - 48 0 0.00 59 7 10.61 DCTN4 0 genome.wustl.edu 37 5 150136010 150136010 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 5 150136010 150136010 G A SNP DCTN4 ENST00000446090 human ensembl 74_37 -1 known missense c.175 p.P59S 1.000 pfam_Dynactin_p62 pfam_Dynactin_p62 - no_errors DCTN4 HGNC ENSG00000132912 tier1 - - 111 0 0.00 49 5 9.26 DDX10 0 genome.wustl.edu 37 11 108712068 108712068 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 108712068 108712068 G T SNP DDX10 ENST00000322536 human ensembl 74_37 +1 known missense c.2112 p.Q704H 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX10 HGNC ENSG00000178105 57 0 0.00 37 2 5.13 DENND2A 0 genome.wustl.edu 37 7 140257953 140257953 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 7 140257953 140257953 C T SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known missense c.1949 p.R650Q 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 25 0 0.00 24 2 7.69 DENND4B 0 genome.wustl.edu 37 1 153910230 153910230 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 1 153910230 153910230 G T SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.2075 p.P692Q 0.018 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 27 0 0.00 27 2 6.90 DIDO1 0 genome.wustl.edu 37 20 61513659 61513659 + Nonsense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 20 61513659 61513659 G A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known nonsense c.3649 p.R1217* 0.212 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 tier1 - - 98 0 0.00 79 52 39.69 DOCK8 0 genome.wustl.edu 37 9 399160 399160 + Silent SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 9 399160 399160 G T SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known silent c.3135 p.A1045 0.002 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 45 0 0.00 75 4 5.06 DPF2 0 genome.wustl.edu 37 11 65111529 65111529 + Missense_Mutation SNP A A G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 65111529 65111529 A G SNP DPF2 ENST00000528416 human ensembl 74_37 +1 known missense c.626 p.Y209C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF2 HGNC ENSG00000133884 tier1 - - 43 0 0.00 20 12 37.50 DUSP27 0 genome.wustl.edu 37 1 167096345 167096345 + Silent SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 1 167096345 167096345 G T SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known silent c.1977 p.L659 0.989 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 tier1 - - 19 0 0.00 27 14 34.15 DYNAP 0 genome.wustl.edu 37 18 52262221 52262221 + Missense_Mutation SNP C C G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 18 52262221 52262221 C G SNP DYNAP ENST00000321600 human ensembl 74_37 +1 known missense c.187 p.L63V 0.029 NULL NULL - no_errors DYNAP HGNC ENSG00000178690 62 0 0.00 49 3 5.77 DYNC1H1 0 genome.wustl.edu 37 14 102472350 102472350 + Silent SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 14 102472350 102472350 G T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.5559 p.V1853 0.996 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 58 0 0.00 44 4 8.33 DYX1C1-CCPG1 0 genome.wustl.edu 37 15 55790554 55790554 + RNA SNP C C G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 15 55790554 55790554 C G SNP DYX1C1-CCPG1 ENST00000565113 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DYX1C1-CCPG1 HGNC ENSG00000261771 tier1 - - 66 0 0.00 49 15 23.44 EHD2 0 genome.wustl.edu 37 19 48244236 48244236 + Silent SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 19 48244236 48244236 C T SNP EHD2 ENST00000263277 human ensembl 74_37 +1 known silent c.1179 p.L393 0.958 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 tier1 rs146746938 - 25 0 0.00 21 8 27.59 EIF3A 0 genome.wustl.edu 37 10 120795774 120795774 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 10 120795774 120795774 G T SNP EIF3A ENST00000369144 human ensembl 74_37 -1 known missense c.3926 p.S1309Y 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 tier1 - - 84 0 0.00 57 12 17.39 ENSG00000227175 0 genome.wustl.edu 37 10 13570599 13570599 + RNA DEL A A - TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 10 13570599 13570599 A - DEL ENSG00000227175 ENST00000438431 human ensembl 74_37 +1 known rna NULL NULL 0.663 - - - no_errors RP11-214D15.2 Clone_based_vega_gene ENSG00000227175 tier1 11 0 0.00 6 3 33.33 ENSG00000235887 0 genome.wustl.edu 37 1 148853641 148853642 + RNA INS - - G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 1 148853641 148853642 0 G INS ENSG00000235887 ENST00000456469 human ensembl 74_37 +1 known rna NULL NULL 0.904:0.905 - - - no_errors RP11-763B22.6 Clone_based_vega_gene ENSG00000235887 15 0 0.00 4 2 33.33 ENSG00000272821 0 genome.wustl.edu 37 22 50963047 50963047 + RNA SNP T T C TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 22 50963047 50963047 T C SNP ENSG00000272821 ENST00000608319 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors CTA-384D8.36 Clone_based_vega_gene ENSG00000272821 tier1 - - 96 0 0.00 83 19 18.63 EPG5 0 genome.wustl.edu 37 18 43505795 43505795 + Missense_Mutation SNP C C A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 18 43505795 43505795 C A SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.2627 p.R876L 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 66 0 0.00 38 2 5.00 EPHB4 0 genome.wustl.edu 37 7 100417902 100417902 + Silent SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 7 100417902 100417902 G T SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known silent c.825 p.T275 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB4 HGNC ENSG00000196411 45 0 0.00 64 4 5.88 ERLIN1 0 genome.wustl.edu 37 10 101943525 101943525 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 10 101943525 101943525 G T SNP ERLIN1 ENST00000407654 human ensembl 74_37 -1 known missense c.183 p.F61L 1.000 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7 - no_errors ERLIN1 HGNC ENSG00000107566 tier1 - - 68 0 0.00 53 4 7.02 EXOC1 0 genome.wustl.edu 37 4 56734599 56734599 + Silent SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 4 56734599 56734599 C T SNP EXOC1 ENST00000346134 human ensembl 74_37 +1 known silent c.513 p.I171 1.000 NULL pfam_Exocyst_Exoc1/SEC3 - no_errors EXOC1 HGNC ENSG00000090989 tier1 - - 41 0 0.00 20 17 45.95 EXOC6B 0 genome.wustl.edu 37 2 72945395 72945395 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 2 72945395 72945395 G T SNP EXOC6B ENST00000272427 human ensembl 74_37 -1 known missense c.506 p.T169N 0.979 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6B HGNC ENSG00000144036 tier1 - - 58 0 0.00 49 4 7.55 FAHD1 0 genome.wustl.edu 37 16 1877560 1877560 + Silent SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 16 1877560 1877560 C T SNP FAHD1 ENST00000382666 human ensembl 74_37 +1 known silent c.330 p.D110 0.998 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD1 HGNC ENSG00000180185 tier1 - - 65 0 0.00 53 15 22.06 FAM135B 0 genome.wustl.edu 37 8 139164275 139164275 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 8 139164275 139164275 G T SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.2443 p.L815I 0.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 tier1 - - 47 0 0.00 60 5 7.69 FAM13A-AS1 0 genome.wustl.edu 37 4 89649410 89649411 + RNA INS - - TG TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 4 89649410 89649411 - TG INS FAM13A-AS1 ENST00000500765 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors FAM13A-AS1 HGNC ENSG00000248019 tier1 27 0 0.00 26 2 7.14 FAM184A 0 genome.wustl.edu 37 6 119345780 119345780 + Missense_Mutation SNP T T C TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 6 119345780 119345780 T C SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known missense c.358 p.K120E 0.992 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 43 0 0.00 31 2 6.06 FAM205A 0 genome.wustl.edu 37 9 34723763 34723763 + Silent SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 9 34723763 34723763 G T SNP FAM205A ENST00000378788 human ensembl 74_37 -1 novel silent c.3474 p.A1158 0.019 NULL NULL - no_errors FAM205A HGNC ENSG00000205108 88 0 0.00 84 5 5.62 FBXW11 0 genome.wustl.edu 37 5 171305017 171305017 + Silent SNP C C A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 5 171305017 171305017 C A SNP FBXW11 ENST00000265094 human ensembl 74_37 -1 known silent c.906 p.V302 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW11 HGNC ENSG00000072803 49 0 0.00 27 2 6.90 FGFR4 0 genome.wustl.edu 37 5 176518014 176518014 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 5 176518014 176518014 G A SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.512 p.R171H 1.000 pirsf_FGF_rcpt_fam,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 tier1 - - 45 0 0.00 46 6 11.54 FN1 0 genome.wustl.edu 37 2 216249666 216249666 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 2 216249666 216249666 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.4646 p.A1549V 0.802 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 tier1 - - 65 0 0.00 53 4 7.02 FTHL17 0 genome.wustl.edu 37 X 31090038 31090038 + Silent SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f X 31090038 31090038 C T SNP FTHL17 ENST00000359202 human ensembl 74_37 -1 known silent c.33 p.Q11 0.987 superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTHL17 HGNC ENSG00000132446 tier1 - - 14 0 0.00 5 6 54.55 GABRB1 0 genome.wustl.edu 37 4 47427817 47427817 + Nonsense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 4 47427817 47427817 C T SNP GABRB1 ENST00000295454 human ensembl 74_37 +1 known nonsense c.1207 p.Q403* 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 tier1 - - 60 0 0.00 42 6 12.50 GP1BA 0 genome.wustl.edu 37 17 4837184 4837184 + Frame_Shift_Del DEL G G - TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 17 4837184 4837184 G - DEL GP1BA ENST00000329125 human ensembl 74_37 +1 known frame_shift_del c.1285 p.E429fs 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP1BA HGNC ENSG00000185245 tier1 20 0 0.00 19 4 17.39 GRB14 0 genome.wustl.edu 37 2 165365287 165365288 + Frame_Shift_Ins INS - - T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 2 165365287 165365288 - T INS GRB14 ENST00000263915 human ensembl 74_37 -1 known frame_shift_ins c.892_891 p.H297fs 0.105:0.015 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC ENSG00000115290 tier1 63 0 0.00 49 5 9.26 GRHL2 0 genome.wustl.edu 37 8 102555584 102555584 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 8 102555584 102555584 G A SNP GRHL2 ENST00000251808 human ensembl 74_37 +1 known missense c.136 p.A46T 1.000 NULL pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 44 0 0.00 57 3 5.00 GRIN2D 0 genome.wustl.edu 37 19 48917261 48917261 + Missense_Mutation SNP A A G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 19 48917261 48917261 A G SNP GRIN2D ENST00000263269 human ensembl 74_37 +1 known missense c.1099 p.I367V 1.000 superfamily_Peripla_BP_I 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 GRIN2D HGNC ENSG00000105464 tier1 - - 49 0 0.00 47 4 7.84 GYG2 0 genome.wustl.edu 37 X 2777906 2777906 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f X 2777906 2777906 G A SNP GYG2 ENST00000381163 human ensembl 74_37 +1 known missense c.730 p.V244I 0.999 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYG2 HGNC ENSG00000056998 tier1 - - 72 0 0.00 44 4 8.33 HAUS7 0 genome.wustl.edu 37 X 152721028 152721028 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f X 152721028 152721028 G A SNP HAUS7 ENST00000370212 human ensembl 74_37 -1 known missense c.932 p.T311M 0.052 NULL NULL - no_errors HAUS7 HGNC ENSG00000213397 tier1 rs201262645 - 43 0 0.00 12 35 72.92 HECTD4 0 genome.wustl.edu 37 12 112641530 112641530 + Silent SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 12 112641530 112641530 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known silent c.7800 p.S2600 0.996 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 50 0 0.00 52 4 7.14 HILS1 0 genome.wustl.edu 37 17 48249043 48249043 + RNA SNP C C A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 17 48249043 48249043 C A SNP HILS1 ENST00000504307 human ensembl 74_37 -1 known rna NULL NULL 0.887 - - - no_errors HILS1 HGNC ENSG00000188662 tier1 - - 53 0 0.00 93 25 21.19 HIST1H2BG 0 genome.wustl.edu 37 6 26216766 26216766 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 6 26216766 26216766 C T SNP HIST1H2BG ENST00000244601 human ensembl 74_37 -1 known missense c.106 p.E36K 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BG HGNC ENSG00000187990 tier1 - - 100 0 0.00 74 16 17.78 HMGXB4 0 genome.wustl.edu 37 22 35661544 35661544 + Frame_Shift_Del DEL A A - TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 22 35661544 35661544 A - DEL HMGXB4 ENST00000216106 human ensembl 74_37 +1 known frame_shift_del c.1163 p.K391fs 1.000 superfamily_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGXB4 HGNC ENSG00000100281 tier1 32 0 0.00 22 2 8.33 HSD17B14 0 genome.wustl.edu 37 19 49316483 49316483 + Silent SNP C C A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 19 49316483 49316483 C A SNP HSD17B14 ENST00000263278 human ensembl 74_37 -1 known silent c.762 p.G254 0.140 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B14 HGNC ENSG00000087076 tier1 - - 41 0 0.00 21 31 59.62 IKZF1 0 genome.wustl.edu 37 7 50467846 50467846 + Missense_Mutation SNP T T A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 7 50467846 50467846 T A SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known missense c.1081 p.S361T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 tier1 - - 30 0 0.00 21 17 44.74 INF2 0 genome.wustl.edu 37 14 105177441 105177441 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 14 105177441 105177441 G T SNP INF2 ENST00000392634 human ensembl 74_37 +1 known missense c.2336 p.G779V 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 28 0 0.00 14 2 12.50 INF2 0 genome.wustl.edu 37 14 105177442 105177442 + Silent SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 14 105177442 105177442 C T SNP INF2 ENST00000392634 human ensembl 74_37 +1 known silent c.2337 p.G779 0.997 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 28 0 0.00 13 2 12.50 INSIG2 0 genome.wustl.edu 37 2 118866114 118866114 + RNA SNP T T G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 2 118866114 118866114 T G SNP INSIG2 ENST00000471186 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors INSIG2 HGNC ENSG00000125629 tier1 - - 58 0 0.00 137 20 12.74 IREB2 0 genome.wustl.edu 37 15 78758632 78758632 + Missense_Mutation SNP A A T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 15 78758632 78758632 A T SNP IREB2 ENST00000258886 human ensembl 74_37 +1 known missense c.430 p.N144Y 0.999 superfamily_Acoase/IPM_deHydtase_lsu_aba pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 tier1 - - 48 0 0.00 33 9 21.43 ISL2 0 genome.wustl.edu 37 15 76630258 76630258 + Silent SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 15 76630258 76630258 C T SNP ISL2 ENST00000290759 human ensembl 74_37 +1 known silent c.198 p.C66 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors ISL2 HGNC ENSG00000159556 tier1 - - 187 0 0.00 106 49 31.41 KCNK13 0 genome.wustl.edu 37 14 90650686 90650686 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 14 90650686 90650686 G A SNP KCNK13 ENST00000282146 human ensembl 74_37 +1 known missense c.566 p.G189D 1.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 44 0 0.00 19 3 13.64 KIAA0895 0 genome.wustl.edu 37 7 36406352 36406352 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 7 36406352 36406352 C T SNP KIAA0895 ENST00000338533 human ensembl 74_37 -1 known missense c.100 p.E34K 0.002 NULL pfam_DUF1704 - no_errors KIAA0895 HGNC ENSG00000164542 tier1 - - 55 0 0.00 49 9 15.52 KLRC4 0 genome.wustl.edu 37 12 10562135 10562135 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 12 10562135 10562135 C T SNP KLRC4 ENST00000309384 human ensembl 74_37 -1 known missense c.40 p.A14T 0.000 NULL superfamily_C-type_lectin_fold - no_errors KLRC4 HGNC ENSG00000183542 tier1 - - 162 0 0.00 75 59 44.03 KRT1 0 genome.wustl.edu 37 12 53069050 53069050 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 12 53069050 53069050 C T SNP KRT1 ENST00000252244 human ensembl 74_37 -1 known missense c.1862 p.G621E 0.815 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 tier1 - - 30 0 0.00 7 12 63.16 LAP3 0 genome.wustl.edu 37 4 17590491 17590491 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 4 17590491 17590491 G A SNP LAP3 ENST00000226299 human ensembl 74_37 +1 known missense c.754 p.A252T 1.000 pfam_Peptidase_M17_C pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Leucine_aapep/pepB - no_errors LAP3 HGNC ENSG00000002549 tier1 - - 66 0 0.00 67 5 6.94 LEPREL2 0 genome.wustl.edu 37 12 6939135 6939135 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 12 6939135 6939135 G A SNP LEPREL2 ENST00000396725 human ensembl 74_37 +1 known missense c.608 p.R203Q 0.022 NULL smart_Pro_4_hyd_alph - no_errors LEPREL2 HGNC ENSG00000110811 tier1 - - 74 0 0.00 61 4 6.15 LIMA1 0 genome.wustl.edu 37 12 50616162 50616162 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 12 50616162 50616162 C T SNP LIMA1 ENST00000394943 human ensembl 74_37 -1 known missense c.272 p.R91Q 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC ENSG00000050405 tier1 - - 25 0 0.00 8 22 73.33 LOR 0 genome.wustl.edu 37 1 153233880 153233880 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 1 153233880 153233880 C T SNP LOR ENST00000368742 human ensembl 74_37 +1 known missense c.455 p.S152L 0.017 NULL NULL - no_errors LOR HGNC ENSG00000203782 tier1 - - 13 0 0.00 9 4 30.77 LPA 0 genome.wustl.edu 37 6 160978445 160978445 + Missense_Mutation SNP C C A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 6 160978445 160978445 C A SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.4790 p.S1597I 0.003 NULL pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 tier1 - - 96 0 0.00 64 16 20.00 LPHN3 0 genome.wustl.edu 37 4 62599041 62599041 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 4 62599041 62599041 G T SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.1168 p.V390L 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 37 0 0.00 36 2 5.26 LRRC8A 0 genome.wustl.edu 37 9 131670459 131670459 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 9 131670459 131670459 C T SNP LRRC8A ENST00000259324 human ensembl 74_37 +1 known missense c.1016 p.T339I 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 12 0 0.00 24 2 7.69 LRRIQ1 0 genome.wustl.edu 37 12 85518212 85518212 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 12 85518212 85518212 C T SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.3922 p.P1308S 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 50 0 0.00 21 5 19.23 LRRIQ1 0 genome.wustl.edu 37 12 85449564 85449564 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 12 85449564 85449564 G T SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.993 p.K331N 0.074 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 27 0 0.00 12 2 14.29 LZTR1 0 genome.wustl.edu 37 22 21346071 21346071 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 22 21346071 21346071 G A SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known missense c.946 p.V316M 0.999 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 tier1 - - 58 0 0.00 69 4 5.48 MACF1 0 genome.wustl.edu 37 1 39913530 39913530 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 1 39913530 39913530 G T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.13751 p.R4584I 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 57 0 0.00 38 2 5.00 MADD 0 genome.wustl.edu 37 11 47298299 47298299 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 47298299 47298299 G T SNP MADD ENST00000311027 human ensembl 74_37 +1 known missense c.980 p.R327L 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 52 0 0.00 52 4 7.14 MAML2 0 genome.wustl.edu 37 11 95825371 95825371 + Silent SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 95825371 95825371 C T SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known silent c.1824 p.Q608 0.002 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 48 0 0.00 48 4 7.69 MAP3K7 0 genome.wustl.edu 37 6 91246115 91246115 + Nonsense_Mutation SNP C C A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 6 91246115 91246115 C A SNP MAP3K7 ENST00000369329 human ensembl 74_37 -1 known nonsense c.1297 p.G433* 1.000 pirsf_MAPKKK7 pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K7 HGNC ENSG00000135341 49 0 0.00 31 2 6.06 MAP4K3 0 genome.wustl.edu 37 2 39553377 39553377 + Missense_Mutation SNP T T C TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 2 39553377 39553377 T C SNP MAP4K3 ENST00000263881 human ensembl 74_37 -1 known missense c.572 p.Y191C 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_Citron,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,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K3 HGNC ENSG00000011566 tier1 - - 31 0 0.00 29 9 23.68 MCEE 0 genome.wustl.edu 37 2 71337211 71337212 + Frame_Shift_Ins INS - - T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 2 71337211 71337212 - T INS MCEE ENST00000244217 human ensembl 74_37 -1 known frame_shift_ins c.420_419 p.K141fs 1.000:1.000 pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase - no_errors MCEE HGNC ENSG00000124370 tier1 47 0 0.00 41 4 8.89 MEOX2 0 genome.wustl.edu 37 7 15725593 15725593 + Silent SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 7 15725593 15725593 C T SNP MEOX2 ENST00000262041 human ensembl 74_37 -1 known silent c.435 p.A145 0.998 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MEOX2 HGNC ENSG00000106511 tier1 - - 56 0 0.00 36 26 41.27 MFN2 0 genome.wustl.edu 37 1 12056272 12056272 + Missense_Mutation SNP C C G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 1 12056272 12056272 C G SNP MFN2 ENST00000235329 human ensembl 74_37 +1 known missense c.371 p.S124C 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN2 HGNC ENSG00000116688 tier1 - - 58 0 0.00 13 22 62.86 MFSD10 0 genome.wustl.edu 37 4 2934143 2934143 + Missense_Mutation SNP A A G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 4 2934143 2934143 A G SNP MFSD10 ENST00000329687 human ensembl 74_37 -1 known missense c.628 p.F210L 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD10 HGNC ENSG00000109736 tier1 - - 46 0 0.00 23 10 30.30 MLLT3 0 genome.wustl.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 9 20414340 20414340 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.504 p.S168 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 tier1 - - 41 0 0.00 50 5 9.09 MMD2 0 genome.wustl.edu 37 7 4947197 4947197 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 7 4947197 4947197 C T SNP MMD2 ENST00000404774 human ensembl 74_37 -1 known missense c.643 p.G215R 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors MMD2 HGNC ENSG00000136297 tier1 - - 25 0 0.00 32 16 33.33 MMP1 0 genome.wustl.edu 37 11 102667452 102667452 + Missense_Mutation SNP C C A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 102667452 102667452 C A SNP MMP1 ENST00000315274 human ensembl 74_37 -1 known missense c.568 p.G190C 0.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP1 HGNC ENSG00000196611 tier1 - - 110 0 0.00 74 4 5.13 MPP3 0 genome.wustl.edu 37 17 41888280 41888280 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 17 41888280 41888280 G T SNP MPP3 ENST00000398389 human ensembl 74_37 -1 known missense c.1353 p.F451L 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP3 HGNC ENSG00000161647 29 0 0.00 38 2 5.00 MS4A1 0 genome.wustl.edu 37 11 60229937 60229937 + Silent SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 60229937 60229937 C T SNP MS4A1 ENST00000345732 human ensembl 74_37 +1 known silent c.90 p.L30 0.000 NULL pfam_CD20-like - no_errors MS4A1 HGNC ENSG00000156738 tier1 - - 38 0 0.00 52 8 13.33 MUC4 0 genome.wustl.edu 37 3 195506846 195506846 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 3 195506846 195506846 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.11605 p.H3869Y 0.574 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 127 0 0.00 124 51 29.14 MXD3 0 genome.wustl.edu 37 5 176734506 176734506 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 5 176734506 176734506 C T SNP MXD3 ENST00000423571 human ensembl 74_37 -1 putative missense c.781 p.A261T 0.004 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MXD3 HGNC ENSG00000213347 tier1 - - 62 0 0.00 57 4 6.45 NAT8 0 genome.wustl.edu 37 2 73868257 73868257 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 2 73868257 73868257 C T SNP NAT8 ENST00000272425 human ensembl 74_37 -1 known missense c.499 p.D167N 0.917 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 NAT8 HGNC ENSG00000144035 tier1 - - 63 0 0.00 55 4 6.78 NAV1 0 genome.wustl.edu 37 1 201750186 201750186 + Missense_Mutation SNP G G C TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 1 201750186 201750186 G C SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.1412 p.S471T 0.976 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 tier1 - - 49 0 0.00 66 7 9.59 NAV2 0 genome.wustl.edu 37 11 19961215 19961215 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 19961215 19961215 C T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.2111 p.T704M 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 43 0 0.00 42 4 8.70 NBEAL2 0 genome.wustl.edu 37 3 47049918 47049918 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 3 47049918 47049918 G A SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.7865 p.R2622H 0.429 superfamily_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 tier1 - - 59 0 0.00 16 19 54.29 NES 0 genome.wustl.edu 37 1 156641419 156641419 + Missense_Mutation SNP T T A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 1 156641419 156641419 T A SNP NES ENST00000368223 human ensembl 74_37 -1 known missense c.2561 p.E854V 0.196 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 28 0 0.00 26 4 13.33 NES 0 genome.wustl.edu 37 1 156641420 156641420 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 1 156641420 156641420 C T SNP NES ENST00000368223 human ensembl 74_37 -1 known missense c.2560 p.E854K 0.295 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 28 0 0.00 26 4 13.33 NFIX 0 genome.wustl.edu 37 19 13136057 13136057 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 19 13136057 13136057 C T SNP NFIX ENST00000585575 human ensembl 74_37 +1 known missense c.226 p.R76W 1.000 pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIX HGNC ENSG00000008441 tier1 - - 49 0 0.00 45 12 21.05 NPAS3 0 genome.wustl.edu 37 14 34270029 34270029 + Missense_Mutation SNP C C A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 14 34270029 34270029 C A SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.2516 p.A839D 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 tier1 - - 38 0 0.00 34 4 10.26 NR2C2 0 genome.wustl.edu 37 3 15045465 15045465 + Missense_Mutation SNP C C G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 3 15045465 15045465 C G SNP NR2C2 ENST00000323373 human ensembl 74_37 +1 known missense c.44 p.S15C 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 tier1 - - 58 0 0.00 26 9 25.71 NRP1 0 genome.wustl.edu 37 10 33619702 33619702 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 10 33619702 33619702 G T SNP NRP1 ENST00000265371 human ensembl 74_37 -1 known missense c.182 p.P61Q 1.000 pirsf_Neuropilin,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 tier1 - - 88 0 0.00 58 4 6.45 NTM 0 genome.wustl.edu 37 11 132206479 132206479 + RNA SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 132206479 132206479 G T SNP NTM ENST00000474900 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NTM HGNC ENSG00000182667 tier1 - - 60 0 0.00 40 4 9.09 NUP188 0 genome.wustl.edu 37 9 131733123 131733123 + Silent SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 9 131733123 131733123 G T SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known silent c.999 p.L333 1.000 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 tier1 - - 74 0 0.00 44 4 8.33 OR2D2 0 genome.wustl.edu 37 11 6913349 6913349 + Missense_Mutation SNP T T A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 6913349 6913349 T A SNP OR2D2 ENST00000299459 human ensembl 74_37 -1 known missense c.383 p.N128I 0.007 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2D2 HGNC ENSG00000166368 tier1 - - 46 0 0.00 15 18 54.55 OR51M1 0 genome.wustl.edu 37 11 5411427 5411427 + Missense_Mutation SNP A A T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 5411427 5411427 A T SNP OR51M1 ENST00000328611 human ensembl 74_37 +1 known missense c.799 p.M267L 0.180 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 OR51M1 HGNC ENSG00000184698 tier1 - - 61 0 0.00 46 6 11.54 OR5M3 0 genome.wustl.edu 37 11 56237898 56237898 + Missense_Mutation SNP A A G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 56237898 56237898 A G SNP OR5M3 ENST00000312240 human ensembl 74_37 -1 known missense c.76 p.F26L 0.435 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 tier1 - - 81 0 0.00 33 9 21.43 OR8S1 0 genome.wustl.edu 37 12 48919861 48919861 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 12 48919861 48919861 G T SNP OR8S1 ENST00000310194 human ensembl 74_37 +1 known missense c.447 p.W149C 0.806 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8S1 HGNC ENSG00000197376 73 0 0.00 57 3 5.00 OSR2 0 genome.wustl.edu 37 8 99961213 99961213 + Silent SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 8 99961213 99961213 G T SNP OSR2 ENST00000457907 human ensembl 74_37 +1 known silent c.396 p.P132 0.993 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR2 HGNC ENSG00000164920 44 0 0.00 49 4 7.55 OTOL1 0 genome.wustl.edu 37 3 161220969 161220969 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 3 161220969 161220969 G A SNP OTOL1 ENST00000327928 human ensembl 74_37 +1 known missense c.673 p.A225T 0.991 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors OTOL1 HGNC ENSG00000182447 tier1 - - 24 0 0.00 20 10 33.33 PARPBP 0 genome.wustl.edu 37 12 102590702 102590702 + RNA SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 12 102590702 102590702 G T SNP PARPBP ENST00000535811 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PARPBP HGNC ENSG00000185480 tier1 - - 57 0 0.00 28 3 9.38 PCLO 0 genome.wustl.edu 37 7 82544283 82544283 + Missense_Mutation SNP G G C TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 7 82544283 82544283 G C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.13019 p.T4340S 0.999 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 78 0 0.00 42 23 35.38 PDE6C 0 genome.wustl.edu 37 10 95399868 95399868 + Missense_Mutation SNP A A T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 10 95399868 95399868 A T SNP PDE6C ENST00000371447 human ensembl 74_37 +1 known missense c.1524 p.E508D 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 tier1 - - 81 0 0.00 40 23 36.51 PDZD2 0 genome.wustl.edu 37 5 32108982 32108982 + RNA SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 5 32108982 32108982 G A SNP PDZD2 ENST00000513490 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PDZD2 HGNC ENSG00000133401 tier1 - - 41 0 0.00 16 11 40.74 PELI2 0 genome.wustl.edu 37 14 56755351 56755351 + Missense_Mutation SNP G G C TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 14 56755351 56755351 G C SNP PELI2 ENST00000267460 human ensembl 74_37 +1 known missense c.506 p.G169A 1.000 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI2 HGNC ENSG00000139946 tier1 - - 51 0 0.00 41 15 26.79 PHF2 0 genome.wustl.edu 37 9 96428302 96428302 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 9 96428302 96428302 C T SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.2147 p.T716M 0.121 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 - - 62 0 0.00 52 4 7.14 PKD2 0 genome.wustl.edu 37 4 88929174 88929176 + In_Frame_Del DEL GAG GAG - TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 4 88929174 88929176 GAG - DEL PKD2 ENST00000237596 human ensembl 74_37 +1 known in_frame_del c.289_291 p.E100in_frame_del 1.000:1.000:1.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 tier1 42 0 0.00 34 3 8.11 PKHD1 0 genome.wustl.edu 37 6 51523791 51523791 + Silent SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 6 51523791 51523791 C T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.11133 p.G3711 0.437 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 - - 88 0 0.00 38 10 20.83 PKHD1L1 0 genome.wustl.edu 37 8 110442220 110442220 + Nonsense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 8 110442220 110442220 G A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known nonsense c.3183 p.W1061* 1.000 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 113 0 0.00 89 5 5.32 PLXNB2 0 genome.wustl.edu 37 22 50716282 50716282 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 22 50716282 50716282 C T SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.5048 p.S1683N 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 52 0 0.00 63 4 5.97 POLE 0 genome.wustl.edu 37 12 133209313 133209313 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 12 133209313 133209313 C T SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.6073 p.V2025M 0.351 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 11 7 38.89 POLR3B 0 genome.wustl.edu 37 12 106848301 106848301 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 12 106848301 106848301 G T SNP POLR3B ENST00000228347 human ensembl 74_37 +1 known missense c.2105 p.R702L 1.000 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 tier1 - - 42 0 0.00 27 3 10.00 PRNP 0 genome.wustl.edu 37 20 4680105 4680105 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 20 4680105 4680105 G A SNP PRNP ENST00000379440 human ensembl 74_37 +1 known missense c.239 p.G80D 0.894 smart_Prion,prints_Prion pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion - no_errors PRNP HGNC ENSG00000171867 tier1 - - 31 0 0.00 29 4 12.12 PRODH2 0 genome.wustl.edu 37 19 36303332 36303332 + Silent SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 19 36303332 36303332 G T SNP PRODH2 ENST00000301175 human ensembl 74_37 -1 known silent c.529 p.R177 0.615 NULL pfam_Proline_DH - no_errors PRODH2 HGNC ENSG00000250799 60 0 0.00 55 3 5.17 PRRC2C 0 genome.wustl.edu 37 1 171514802 171514802 + Nonsense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 1 171514802 171514802 C T SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known nonsense c.4948 p.Q1650* 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 53 0 0.00 75 4 5.06 PRRG2 0 genome.wustl.edu 37 19 50086879 50086879 + Missense_Mutation SNP G G C TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 19 50086879 50086879 G C SNP PRRG2 ENST00000246794 human ensembl 74_37 +1 known missense c.166 p.E56Q 1.000 pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG2 HGNC ENSG00000126460 tier1 - - 54 0 0.00 39 10 20.41 PWWP2A 0 genome.wustl.edu 37 5 159519671 159519671 + Silent SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 5 159519671 159519671 C T SNP PWWP2A ENST00000307063 human ensembl 74_37 -1 known silent c.1986 p.K662 1.000 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2A HGNC ENSG00000170234 39 0 0.00 40 3 6.98 QRSL1 0 genome.wustl.edu 37 6 107088318 107088318 + Missense_Mutation SNP A A T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 6 107088318 107088318 A T SNP QRSL1 ENST00000369046 human ensembl 74_37 +1 known missense c.119 p.Y40F 1.000 pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA - no_errors QRSL1 HGNC ENSG00000130348 51 0 0.00 28 2 6.67 RAP1GAP2 0 genome.wustl.edu 37 17 2930267 2930267 + Silent SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 17 2930267 2930267 C T SNP RAP1GAP2 ENST00000254695 human ensembl 74_37 +1 known silent c.2010 p.F670 1.000 NULL pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom - no_errors RAP1GAP2 HGNC ENSG00000132359 tier1 - - 65 0 0.00 25 21 45.65 RBKS 0 genome.wustl.edu 37 2 28093733 28093734 + Frame_Shift_Ins INS - - T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 2 28093733 28093734 - T INS RBKS ENST00000449378 human ensembl 74_37 -1 known frame_shift_ins c.114_113 p.Y38fs 0.639:0.672 NULL NULL - no_errors RBKS HGNC ENSG00000171174 tier1 19 0 0.00 15 6 28.57 RDX 0 genome.wustl.edu 37 11 110070369 110070369 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 110070369 110070369 G T SNP RDX ENST00000530749 human ensembl 74_37 -1 known missense c.1783 p.R595S 1.000 NULL pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC ENSG00000137710 tier1 - - 53 0 0.00 38 4 9.52 RIC8B 0 genome.wustl.edu 37 12 107208704 107208704 + Silent SNP G G C TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 12 107208704 107208704 G C SNP RIC8B ENST00000392837 human ensembl 74_37 +1 known silent c.363 p.L121 1.000 pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn - no_errors RIC8B HGNC ENSG00000111785 tier1 - - 47 0 0.00 40 7 14.89 RNF111 0 genome.wustl.edu 37 15 59323811 59323811 + Nonsense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 15 59323811 59323811 G T SNP RNF111 ENST00000434298 human ensembl 74_37 +1 known nonsense c.790 p.E264* 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 tier1 - - 48 0 0.00 21 3 12.50 RNF148 0 genome.wustl.edu 37 7 122342776 122342776 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 7 122342776 122342776 G A SNP RNF148 ENST00000434824 human ensembl 74_37 -1 known missense c.29 p.T10M 0.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF148 HGNC ENSG00000235631 tier1 - - 49 0 0.00 18 16 47.06 RNLS 0 genome.wustl.edu 37 10 90342042 90342042 + Silent SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 10 90342042 90342042 G A SNP RNLS ENST00000331772 human ensembl 74_37 -1 known silent c.141 p.C47 0.002 NULL pfam_Amino_oxidase - no_errors RNLS HGNC ENSG00000184719 tier1 - - 78 0 0.00 75 4 5.06 ROBO3 0 genome.wustl.edu 37 11 124739843 124739843 + Splice_Site SNP G G C TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 124739843 124739843 G C SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known splice_site c.646-1 e4-1 1.000 - - - no_errors ROBO3 HGNC ENSG00000154134 tier1 - - 35 0 0.00 29 11 27.50 RTN4RL1 0 genome.wustl.edu 37 17 1840984 1840984 + Silent SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 17 1840984 1840984 G A SNP RTN4RL1 ENST00000331238 human ensembl 74_37 -1 known silent c.132 p.N44 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL1 HGNC ENSG00000185924 tier1 - - 60 0 0.00 56 4 6.67 RUSC1 0 genome.wustl.edu 37 1 155295178 155295178 + Silent SNP C C G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 1 155295178 155295178 C G SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known silent c.1605 p.L535 0.501 pfam_Run,pfscan_Run pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 tier1 - - 22 0 0.00 16 6 27.27 SAP30BP 0 genome.wustl.edu 37 17 73702109 73702109 + Frame_Shift_Del DEL A A - TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 17 73702109 73702109 A - DEL SAP30BP ENST00000584667 human ensembl 74_37 +1 known frame_shift_del c.682 p.G230fs 1.000 NULL pfam_SAP30BP - no_errors SAP30BP HGNC ENSG00000161526 tier1 40 0 0.00 30 3 9.09 SCLT1 0 genome.wustl.edu 37 4 129864293 129864293 + Missense_Mutation SNP T T A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 4 129864293 129864293 T A SNP SCLT1 ENST00000281142 human ensembl 74_37 -1 known missense c.1490 p.N497I 0.035 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 tier1 - - 71 0 0.00 18 28 60.87 SEC14L1 0 genome.wustl.edu 37 17 75186978 75186978 + Missense_Mutation SNP C C A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 17 75186978 75186978 C A SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known missense c.157 p.H53N 0.039 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 tier1 - - 56 0 0.00 51 4 7.27 SEC16A 0 genome.wustl.edu 37 9 139368647 139368647 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 9 139368647 139368647 G T SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.3421 p.P1141T 0.995 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 44 0 0.00 50 4 7.41 SENP6 0 genome.wustl.edu 37 6 76407199 76407199 + Missense_Mutation SNP G G C TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 6 76407199 76407199 G C SNP SENP6 ENST00000370014 human ensembl 74_37 +1 known missense c.2254 p.E752Q 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP6 HGNC ENSG00000112701 tier1 - - 62 0 0.00 31 6 16.22 SEPT2 0 genome.wustl.edu 37 2 242287602 242287602 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 2 242287602 242287602 C T SNP SEPT2 ENST00000360051 human ensembl 74_37 +1 known missense c.980 p.A327V 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin2 - no_errors SEPT2 HGNC ENSG00000168385 tier1 - - 63 0 0.00 20 4 16.00 SEPT5 0 genome.wustl.edu 37 22 19705853 19705853 + RNA SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 22 19705853 19705853 C T SNP SEPT5 ENST00000490204 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors SEPT5 HGNC ENSG00000184702 tier1 - - 9 0 0.00 4 4 50.00 SIVA1 0 genome.wustl.edu 37 14 105223046 105223046 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 14 105223046 105223046 G A SNP SIVA1 ENST00000329967 human ensembl 74_37 +1 known missense c.419 p.R140H 0.035 pfam_Siva_cd27-bd,pirsf_Siva_cd27-bd pfam_Siva_cd27-bd,pirsf_Siva_cd27-bd - no_errors SIVA1 HGNC ENSG00000184990 tier1 - - 63 0 0.00 55 16 22.54 SLC10A4 0 genome.wustl.edu 37 4 48490487 48490487 + Missense_Mutation SNP T T C TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 4 48490487 48490487 T C SNP SLC10A4 ENST00000273861 human ensembl 74_37 +1 known missense c.845 p.I282T 0.997 pfam_BilAc/Na_symport pfam_BilAc/Na_symport - no_errors SLC10A4 HGNC ENSG00000145248 tier1 - - 58 0 0.00 24 10 29.41 SLC25A45 0 genome.wustl.edu 37 11 65144438 65144438 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 65144438 65144438 C T SNP SLC25A45 ENST00000398802 human ensembl 74_37 -1 known missense c.449 p.C150Y 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A45 HGNC ENSG00000162241 tier1 - - 63 0 0.00 28 25 47.17 SLC7A9 0 genome.wustl.edu 37 19 33355188 33355188 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 19 33355188 33355188 G T SNP SLC7A9 ENST00000023064 human ensembl 74_37 -1 known missense c.292 p.P98T 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 tier1 - - 42 0 0.00 36 10 21.74 SNAPC1 0 genome.wustl.edu 37 14 62233649 62233649 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 14 62233649 62233649 G T SNP SNAPC1 ENST00000216294 human ensembl 74_37 +1 known missense c.184 p.A62S 1.000 pfam_SNAPc_SNAP43 pfam_SNAPc_SNAP43 - no_errors SNAPC1 HGNC ENSG00000023608 93 0 0.00 57 4 6.56 SNX29 0 genome.wustl.edu 37 16 12293473 12293473 + Silent SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 16 12293473 12293473 C T SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known silent c.456 p.L152 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 tier1 - - 57 0 0.00 42 20 32.26 SON 0 genome.wustl.edu 37 21 34926719 34926719 + Missense_Mutation SNP A A G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 21 34926719 34926719 A G SNP SON ENST00000356577 human ensembl 74_37 +1 known missense c.5182 p.I1728V 0.757 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 tier1 - - 74 0 0.00 16 28 63.64 SPTBN2 0 genome.wustl.edu 37 11 66467041 66467041 + Silent SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 66467041 66467041 G T SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known silent c.3612 p.L1204 0.623 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,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 SPTBN2 HGNC ENSG00000173898 45 0 0.00 40 3 6.98 SPTBN4 0 genome.wustl.edu 37 19 41008395 41008395 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 19 41008395 41008395 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.1184 p.G395D 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat 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 - - 17 0 0.00 20 7 25.93 ST5 0 genome.wustl.edu 37 11 8732410 8732410 + Silent SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 8732410 8732410 G A SNP ST5 ENST00000313726 human ensembl 74_37 -1 known silent c.2334 p.G778 0.999 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 tier1 - - 66 0 0.00 46 4 8.00 STEAP4 0 genome.wustl.edu 37 7 87913329 87913329 + Missense_Mutation SNP A A C TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 7 87913329 87913329 A C SNP STEAP4 ENST00000380079 human ensembl 74_37 -1 known missense c.256 p.Y86D 1.000 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP4 HGNC ENSG00000127954 tier1 - - 93 0 0.00 65 33 33.67 STK17B 0 genome.wustl.edu 37 2 197021278 197021278 + Silent SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 2 197021278 197021278 G T SNP STK17B ENST00000263955 human ensembl 74_37 -1 known silent c.220 p.R74 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK17B HGNC ENSG00000081320 tier1 - - 48 0 0.00 24 4 14.29 SUGP1 0 genome.wustl.edu 37 19 19416842 19416842 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 19 19416842 19416842 G A SNP SUGP1 ENST00000587119 human ensembl 74_37 -1 known missense c.250 p.P84S 0.010 NULL NULL - no_errors SUGP1 HGNC ENSG00000105705 tier1 - - 97 0 0.00 66 56 45.90 TAB2 0 genome.wustl.edu 37 6 149730801 149730801 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 6 149730801 149730801 G T SNP TAB2 ENST00000286332 human ensembl 74_37 +1 known missense c.2028 p.L676F 1.000 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC ENSG00000055208 tier1 - - 70 0 0.00 64 4 5.88 TAPT1 0 genome.wustl.edu 37 4 16168265 16168265 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 4 16168265 16168265 G T SNP TAPT1 ENST00000405303 human ensembl 74_37 -1 known missense c.1465 p.P489T 0.162 NULL pfam_Membrane_Tatp1/CMV_rcpt - no_errors TAPT1 HGNC ENSG00000169762 105 0 0.00 79 5 5.95 TAS2R60 0 genome.wustl.edu 37 7 143141198 143141198 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 7 143141198 143141198 C T SNP TAS2R60 ENST00000332690 human ensembl 74_37 +1 known missense c.653 p.T218I 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R60 HGNC ENSG00000185899 22 0 0.00 33 3 8.33 TATDN2 0 genome.wustl.edu 37 3 10291031 10291031 + Silent SNP C C A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 3 10291031 10291031 C A SNP TATDN2 ENST00000287652 human ensembl 74_37 +1 known silent c.147 p.P49 0.491 NULL pfam_TatD_family - no_errors TATDN2 HGNC ENSG00000157014 115 0 0.00 57 3 5.00 TBX20 0 genome.wustl.edu 37 7 35242238 35242238 + Missense_Mutation SNP A A G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 7 35242238 35242238 A G SNP TBX20 ENST00000408931 human ensembl 74_37 -1 known missense c.1148 p.I383T 0.998 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC ENSG00000164532 tier1 - - 82 0 0.00 49 27 35.53 TCHH 0 genome.wustl.edu 37 1 152081784 152081784 + Missense_Mutation SNP C C A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 1 152081784 152081784 C A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.3909 p.E1303D 0.002 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 25 0 0.00 37 4 9.76 TDRD1 0 genome.wustl.edu 37 10 115961251 115961251 + Silent SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 10 115961251 115961251 C T SNP TDRD1 ENST00000251864 human ensembl 74_37 +1 known silent c.612 p.I204 0.136 pfam_Znf_MYND,pfscan_Znf_MYND pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 31 0 0.00 29 2 6.45 TET2 0 genome.wustl.edu 37 4 106190855 106190855 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 4 106190855 106190855 G A SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.4133 p.C1378Y 1.000 NULL NULL - no_errors TET2 HGNC ENSG00000168769 tier1 - - 31 0 0.00 5 13 72.22 TGM1 0 genome.wustl.edu 37 14 24724341 24724341 + Silent SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 14 24724341 24724341 C T SNP TGM1 ENST00000206765 human ensembl 74_37 -1 known silent c.1764 p.A588 0.000 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 tier1 - - 37 0 0.00 16 24 60.00 THOC2 0 genome.wustl.edu 37 X 122765573 122765573 + Frame_Shift_Del DEL A A - TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f X 122765573 122765573 A - DEL THOC2 ENST00000245838 human ensembl 74_37 -1 known frame_shift_del c.2447 p.F816fs 1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 tier1 45 0 0.00 32 2 5.88 TMEM14E 0 genome.wustl.edu 37 3 152058400 152058400 + Silent SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 3 152058400 152058400 C T SNP TMEM14E ENST00000408960 human ensembl 74_37 -1 known silent c.294 p.L98 0.011 NULL pfam_UPF0136_TM - no_errors TMEM14E HGNC ENSG00000221962 tier1 - - 55 0 0.00 70 36 33.96 TMEM180 0 genome.wustl.edu 37 10 104228949 104228949 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 10 104228949 104228949 G A SNP TMEM180 ENST00000238936 human ensembl 74_37 +1 known missense c.163 p.G55R 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors TMEM180 HGNC ENSG00000138111 tier1 - - 97 0 0.00 62 44 41.51 TOMM7 0 genome.wustl.edu 37 7 22857031 22857031 + Frame_Shift_Del DEL T T - TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 7 22857031 22857031 T - DEL TOMM7 ENST00000372879 human ensembl 74_37 -1 putative frame_shift_del c.289 p.T97fs 0.100 NULL pfam_Tom7 - no_errors TOMM7 HGNC ENSG00000196683 tier1 39 0 0.00 33 4 10.81 TP53 0 genome.wustl.edu 37 17 7577022 7577022 + Nonsense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 17 7577022 7577022 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.916 p.R306* 1.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs121913344 - 83 0 0.00 18 27 58.70 TPCN2 0 genome.wustl.edu 37 11 68825136 68825136 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 68825136 68825136 G A SNP TPCN2 ENST00000294309 human ensembl 74_37 +1 known missense c.520 p.V174M 0.932 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TPCN2 HGNC ENSG00000162341 tier1 rs150917419 - 78 0 0.00 75 4 5.06 TRMT11 0 genome.wustl.edu 37 6 126334176 126334176 + Silent SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 6 126334176 126334176 G A SNP TRMT11 ENST00000334379 human ensembl 74_37 +1 known silent c.1068 p.L356 0.903 pirsf_tRNA_mtfrase_TRM11,prints_N12N6_MeTrfase pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11,prints_N12N6_MeTrfase - no_errors TRMT11 HGNC ENSG00000066651 tier1 - - 81 0 0.00 63 4 5.97 TTN 0 genome.wustl.edu 37 2 179596473 179596473 + Missense_Mutation SNP C C G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 2 179596473 179596473 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.13397 p.R4466P 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 18 0 0.00 22 3 12.00 TTN-AS1 0 genome.wustl.edu 37 2 179543233 179543233 + RNA DEL A A - TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 2 179543233 179543233 A - DEL TTN-AS1 ENST00000589487 human ensembl 74_37 +1 known rna NULL NULL 0.434 - - - no_errors TTN-AS1 HGNC ENSG00000237298 tier1 68 0 0.00 63 29 31.52 TUBB6 0 genome.wustl.edu 37 18 12310963 12310963 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 18 12310963 12310963 C T SNP TUBB6 ENST00000317702 human ensembl 74_37 +1 known missense c.188 p.A63V 1.000 pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_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_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB6 HGNC ENSG00000176014 tier1 - - 60 0 0.00 15 30 66.67 UBQLN2 0 genome.wustl.edu 37 X 56591895 56591895 + Missense_Mutation SNP C C G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f X 56591895 56591895 C G SNP UBQLN2 ENST00000338222 human ensembl 74_37 +1 known missense c.1589 p.S530C 0.930 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN2 HGNC ENSG00000188021 tier1 - - 37 0 0.00 7 13 65.00 VCAM1 0 genome.wustl.edu 37 1 101198095 101198095 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 1 101198095 101198095 G T SNP VCAM1 ENST00000294728 human ensembl 74_37 +1 known missense c.1647 p.Q549H 0.016 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 tier1 - - 50 0 0.00 25 4 13.79 VPS13B 0 genome.wustl.edu 37 8 100523600 100523600 + Frame_Shift_Del DEL A A - TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 8 100523600 100523600 A - DEL VPS13B ENST00000358544 human ensembl 74_37 +1 known frame_shift_del c.4568 p.E1525fs 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 31 0 0.00 31 2 6.06 VPS26B 0 genome.wustl.edu 37 11 134114931 134114931 + Missense_Mutation SNP T T A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 11 134114931 134114931 T A SNP VPS26B ENST00000281187 human ensembl 74_37 +1 known missense c.821 p.L274Q 1.000 pfam_VPS26 pfam_VPS26,superfamily_Ig_E-set - no_errors VPS26B HGNC ENSG00000151502 61 0 0.00 72 4 5.26 VPS45 0 genome.wustl.edu 37 1 150082617 150082617 + Silent SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 1 150082617 150082617 G A SNP VPS45 ENST00000369130 human ensembl 74_37 +1 known silent c.1500 p.Q500 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS45 HGNC ENSG00000136631 tier1 - - 66 0 0.00 69 27 28.12 WDR52 0 genome.wustl.edu 37 3 113045421 113045421 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 3 113045421 113045421 G T SNP WDR52 ENST00000393845 human ensembl 74_37 -1 known missense c.4387 p.Q1463K 0.815 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 51 0 0.00 76 4 5.00 WWP1 0 genome.wustl.edu 37 8 87393820 87393820 + Missense_Mutation SNP T T A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 8 87393820 87393820 T A SNP WWP1 ENST00000265428 human ensembl 74_37 +1 known missense c.296 p.I99K 0.993 superfamily_C2_dom,smart_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors WWP1 HGNC ENSG00000123124 tier1 - - 53 0 0.00 42 16 27.59 XPO1 0 genome.wustl.edu 37 2 61725817 61725817 + Missense_Mutation SNP C C G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 2 61725817 61725817 C G SNP XPO1 ENST00000401558 human ensembl 74_37 -1 known missense c.750 p.L250F 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 tier1 - - 45 0 0.00 33 22 40.00 YLPM1 0 genome.wustl.edu 37 14 75266005 75266005 + Silent SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 14 75266005 75266005 G A SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known silent c.4005 p.P1335 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 tier1 - - 35 0 0.00 19 12 38.71 ZC3H12B 0 genome.wustl.edu 37 X 64709053 64709053 + Silent SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f X 64709053 64709053 G A SNP ZC3H12B ENST00000338957 human ensembl 74_37 +1 known silent c.372 p.Q124 1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 tier1 - - 16 0 0.00 2 9 81.82 ZCCHC11 0 genome.wustl.edu 37 1 52940528 52940528 + Missense_Mutation SNP A A C TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 1 52940528 52940528 A C SNP ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known missense c.2703 p.D901E 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 tier1 - - 36 0 0.00 3 12 80.00 ZFHX4 0 genome.wustl.edu 37 8 77775618 77775618 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 8 77775618 77775618 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.9668 p.S3223L 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 40 0 0.00 34 17 33.33 ZNF234 0 genome.wustl.edu 37 19 44660752 44660752 + Missense_Mutation SNP C C G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 19 44660752 44660752 C G SNP ZNF234 ENST00000426739 human ensembl 74_37 +1 known missense c.583 p.Q195E 0.991 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 ZNF234 HGNC ENSG00000263002 tier1 - - 118 0 0.00 60 46 43.40 ZNF248 0 genome.wustl.edu 37 10 38121012 38121012 + Missense_Mutation SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 10 38121012 38121012 G A SNP ZNF248 ENST00000357328 human ensembl 74_37 -1 known missense c.1271 p.T424I 0.979 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 ZNF248 HGNC ENSG00000198105 87 0 0.00 73 4 5.19 ZNF287 0 genome.wustl.edu 37 17 16456271 16456271 + Silent SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 17 16456271 16456271 C T SNP ZNF287 ENST00000395824 human ensembl 74_37 -1 known silent c.1185 p.S395 0.021 pfscan_Znf_C2H2 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 ZNF287 HGNC ENSG00000141040 tier1 rs142954560 - 60 0 0.00 25 9 26.47 ZNF331 0 genome.wustl.edu 37 19 54081018 54081018 + Nonsense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 19 54081018 54081018 G T SNP ZNF331 ENST00000253144 human ensembl 74_37 +1 known nonsense c.1204 p.E402* 0.600 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 ZNF331 HGNC ENSG00000130844 tier1 - - 40 0 0.00 31 4 11.43 ZNF410 0 genome.wustl.edu 37 14 74376101 74376101 + Missense_Mutation SNP C C A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 14 74376101 74376101 C A SNP ZNF410 ENST00000555044 human ensembl 74_37 +1 known missense c.971 p.S324Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF410 HGNC ENSG00000119725 tier1 - - 73 0 0.00 44 32 42.11 ZNF511 0 genome.wustl.edu 37 10 135125270 135125270 + Missense_Mutation SNP A A G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 10 135125270 135125270 A G SNP ZNF511 ENST00000368554 human ensembl 74_37 +1 known missense c.410 p.E137G 0.282 NULL smart_Znf_C2H2-like - no_errors ZNF511 HGNC ENSG00000198546 tier1 - - 28 0 0.00 46 4 8.00 ZNF568 0 genome.wustl.edu 37 19 37487497 37487497 + Nonsense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 19 37487497 37487497 C T SNP ZNF568 ENST00000455427 human ensembl 74_37 +1 known nonsense c.712 p.Q238* 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 tier1 - - 47 0 0.00 15 12 44.44 ZNF577 0 genome.wustl.edu 37 19 52383581 52383581 + Missense_Mutation SNP C C G TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 19 52383581 52383581 C G SNP ZNF577 ENST00000301399 human ensembl 74_37 -1 known missense c.55 p.G19R 0.000 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF577 HGNC ENSG00000161551 tier1 - - 56 0 0.00 26 5 16.13 ZNF618 0 genome.wustl.edu 37 9 116791119 116791119 + Silent SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 9 116791119 116791119 G A SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known silent c.951 p.T317 1.000 NULL superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 tier1 - - 75 0 0.00 101 13 11.40 ZNF684 0 genome.wustl.edu 37 1 41007150 41007150 + RNA SNP C C A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 1 41007150 41007150 C A SNP ZNF684 ENST00000472043 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF684 HGNC ENSG00000117010 tier1 - - 43 0 0.00 11 15 57.69 ZNF714 0 genome.wustl.edu 37 19 21300897 21300897 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 19 21300897 21300897 G T SNP ZNF714 ENST00000596143 human ensembl 74_37 +1 known missense c.1427 p.G476V 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF714 HGNC ENSG00000160352 tier1 - - 59 0 0.00 23 25 52.08 ZNF771 0 genome.wustl.edu 37 16 30429185 30429185 + Missense_Mutation SNP C C T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 16 30429185 30429185 C T SNP ZNF771 ENST00000319296 human ensembl 74_37 +1 known missense c.451 p.H151Y 0.379 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF771 HGNC ENSG00000179965 17 0 0.00 11 4 26.67 ZNF793 0 genome.wustl.edu 37 19 38023300 38023300 + Nonsense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f 19 38023300 38023300 G T SNP ZNF793 ENST00000445217 human ensembl 74_37 +1 known nonsense c.58 p.E20* 1.000 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,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF793 HGNC ENSG00000188227 tier1 - - 84 0 0.00 67 4 5.63 ZRSR2 0 genome.wustl.edu 37 X 15817995 15817995 + Missense_Mutation SNP G G T TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 68f76d9c-f426-44b4-a781-81fa01060390 cfe2b919-5fec-4566-81b7-4395c55c003f X 15817995 15817995 G T SNP ZRSR2 ENST00000307771 human ensembl 74_37 +1 known missense c.122 p.G41V 0.701 NULL pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors ZRSR2 HGNC ENSG00000169249 122 0 0.00 52 4 7.14