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 ADPGK 83440 genome.wustl.edu 37 15 73044861 73044861 + Nonsense_Mutation SNP C C A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 15 73044861 73044861 C A SNP ADPGK ENST00000311669 human ensembl 70_37 -1 known nonsense c.1312 p.E438* 0.954 pfam_ADP_PFK/GK pfam_ADP_PFK/GK - no_errors ADPGK HGNC ANKS1B 56899 genome.wustl.edu 37 12 100048924 100048924 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 12 100048924 100048924 G A SNP ANKS1B ENST00000329257 human ensembl 70_37 -1 known missense c.1193 p.T398M 0.717 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC AP3B1 8546 genome.wustl.edu 37 5 77330203 77330203 + Missense_Mutation SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 5 77330203 77330203 G T SNP AP3B1 ENST00000255194 human ensembl 70_37 -1 known missense c.2876 p.T959N 1.000 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ARF4 378 genome.wustl.edu 37 3 57557237 57557238 + RNA INS - - A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 3 57557237 57557238 - A INS ARF4 ENST00000489843 human ensembl 70_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors ARF4 HGNC ARMC4 55130 genome.wustl.edu 37 10 28250610 28250610 + Missense_Mutation SNP C C A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 10 28250610 28250610 C A SNP ARMC4 ENST00000305242 human ensembl 70_37 -1 known missense c.1273 p.D425Y 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ARNT 405 genome.wustl.edu 37 1 150785761 150785761 + Missense_Mutation SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 1 150785761 150785761 C T SNP ARNT ENST00000358595 human ensembl 70_37 -1 known missense c.2167 p.V723M 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT HGNC ASTN2 23245 genome.wustl.edu 37 9 119495716 119495716 + Missense_Mutation SNP A A T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 9 119495716 119495716 A T SNP ASTN2 ENST00000313400 human ensembl 70_37 -1 known missense c.2483 p.V828D 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ATP11B 23200 genome.wustl.edu 37 3 182566281 182566281 + Nonsense_Mutation SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 3 182566281 182566281 G T SNP ATP11B ENST00000323116 human ensembl 70_37 +1 known nonsense c.787 p.G263* 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11B HGNC C17orf58 284018 genome.wustl.edu 37 17 65989227 65989227 + Silent SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 17 65989227 65989227 G A SNP C17orf58 ENST00000449250 human ensembl 70_37 -1 known silent c.36 p.F12 1.000 superfamily_TIMP-like_OB-fold superfamily_TIMP-like_OB-fold - no_errors C17orf58 HGNC CALB1 793 genome.wustl.edu 37 8 91094283 91094283 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 8 91094283 91094283 G A SNP CALB1 ENST00000265431 human ensembl 70_37 -1 known missense c.127 p.L43F 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALB1 HGNC CAPN12 147968 genome.wustl.edu 37 19 39224992 39224992 + Silent SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 19 39224992 39224992 G A SNP CAPN12 ENST00000328867 human ensembl 70_37 -1 known silent c.1782 p.L594 1.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC CD47 961 genome.wustl.edu 37 3 107764455 107764455 + RNA SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 3 107764455 107764455 G A SNP CD47 ENST00000471694 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CD47 HGNC CEP19 84984 genome.wustl.edu 37 3 196434423 196434423 + Silent SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 3 196434423 196434423 C T SNP CEP19 ENST00000409690 human ensembl 70_37 -1 known silent c.503 p.*168 1.000 NULL NULL - no_errors CEP19 HGNC CHD5 26038 genome.wustl.edu 37 1 6228322 6228323 + Frame_Shift_Ins INS - - CA TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 1 6228322 6228323 - CA INS CHD5 ENST00000262450 human ensembl 70_37 -1 known frame_shift_ins c.95_94 p.G32fs 1.000:1.000 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC CPSF4 10898 genome.wustl.edu 37 7 99036745 99036745 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 7 99036745 99036745 G A SNP CPSF4 ENST00000292476 human ensembl 70_37 +1 known missense c.40 p.D14N 1.000 NULL pfam_Znf_CCCH,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors CPSF4 HGNC CROCC 9696 genome.wustl.edu 37 1 17277294 17277294 + RNA SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 1 17277294 17277294 G A SNP CROCC ENST00000488646 human ensembl 70_37 +1 known rna NULL NULL 0.839 - - - no_errors CROCC HGNC CROCCP2 84809 genome.wustl.edu 37 1 16945227 16945227 + RNA SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 1 16945227 16945227 G T SNP CROCCP2 ENST00000412962 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors CROCCP2 HGNC CYP4F29P 54055 genome.wustl.edu 37 21 15219144 15219145 + RNA INS - - T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 21 15219144 15219145 - T INS CYP4F29P ENST00000428301 human ensembl 70_37 -1 known rna NULL NULL 0.322:0.327 - - - no_errors CYP4F29P HGNC DNAI2 64446 genome.wustl.edu 37 17 72308204 72308204 + Silent SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 17 72308204 72308204 G A SNP DNAI2 ENST00000311014 human ensembl 70_37 +1 known silent c.1557 p.L519 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC DOLK 22845 genome.wustl.edu 37 9 131708526 131708526 + Missense_Mutation SNP T T C TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 9 131708526 131708526 T C SNP DOLK ENST00000372586 human ensembl 70_37 -1 known missense c.1057 p.I353V 0.938 NULL NULL - no_errors DOLK HGNC EHBP1L1 254102 genome.wustl.edu 37 11 65349326 65349326 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 11 65349326 65349326 G A SNP EHBP1L1 ENST00000309295 human ensembl 70_37 +1 known missense c.1183 p.E395K 0.219 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC EHBP1L1 254102 genome.wustl.edu 37 11 65349660 65349660 + Missense_Mutation SNP G G C TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 11 65349660 65349660 G C SNP EHBP1L1 ENST00000309295 human ensembl 70_37 +1 known missense c.1517 p.R506T 0.006 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC EHD1 10938 genome.wustl.edu 37 11 64627702 64627702 + Silent SNP C C G TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 11 64627702 64627702 C G SNP EHD1 ENST00000320631 human ensembl 70_37 -1 known silent c.609 p.V203 1.000 pfam_Dynamin_GTPase pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000269208 0 genome.wustl.edu 37 5 68930125 68930125 + Missense_Mutation SNP T T A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 5 68930125 68930125 T A SNP ENSG00000269208 ENST00000596065 human ensembl 70_37 -1 novel missense c.490 p.M164L 0.038 NULL NULL - no_errors AC139495.1 Clone_based_ensembl_gene ENTPD4 9583 genome.wustl.edu 37 8 23292045 23292046 + RNA DEL CA CA - TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 8 23292045 23292046 CA - DEL ENTPD4 ENST00000522913 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ENTPD4 HGNC EXTL1 2134 genome.wustl.edu 37 1 26355692 26355692 + Missense_Mutation SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 1 26355692 26355692 G T SNP EXTL1 ENST00000374280 human ensembl 70_37 +1 known missense c.788 p.R263L 0.043 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL1 HGNC FAT4 79633 genome.wustl.edu 37 4 126369744 126369744 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 4 126369744 126369744 G A SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known missense c.7573 p.A2525T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC FEM1B 10116 genome.wustl.edu 37 15 68582295 68582295 + Missense_Mutation SNP T T G TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 15 68582295 68582295 T G SNP FEM1B ENST00000306917 human ensembl 70_37 +1 known missense c.599 p.I200R 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1B HGNC FEZF2 55079 genome.wustl.edu 37 3 62357289 62357289 + Silent SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 3 62357289 62357289 G T SNP FEZF2 ENST00000283268 human ensembl 70_37 -1 known silent c.906 p.A302 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC FMN2 56776 genome.wustl.edu 37 1 240255569 240255571 + In_Frame_Del DEL GGC GGC - TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 1 240255569 240255571 GGC - DEL FMN2 ENST00000319653 human ensembl 70_37 +1 known in_frame_del c.160_162 p.G57in_frame_del 0.957:0.122:0.017 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC GAB3 139716 genome.wustl.edu 37 X 153944425 153944425 + Silent SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe X 153944425 153944425 G A SNP GAB3 ENST00000424127 human ensembl 70_37 -1 known silent c.252 p.F84 0.403 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC GDF6 392255 genome.wustl.edu 37 8 97156955 97156955 + Missense_Mutation SNP T T G TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 8 97156955 97156955 T G SNP GDF6 ENST00000287020 human ensembl 70_37 -1 known missense c.1204 p.I402L 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC GPR110 266977 genome.wustl.edu 37 6 46967927 46967927 + RNA SNP G G C TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 6 46967927 46967927 G C SNP GPR110 ENST00000449332 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GPR110 HGNC GPR110 266977 genome.wustl.edu 37 6 46967979 46967979 + Missense_Mutation SNP G G C TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 6 46967979 46967979 G C SNP GPR110 ENST00000371253 human ensembl 70_37 -1 known missense c.2713 p.Q905E 0.974 NULL pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC GPT2 84706 genome.wustl.edu 37 16 46943752 46943752 + Missense_Mutation SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 16 46943752 46943752 G T SNP GPT2 ENST00000340124 human ensembl 70_37 +1 known missense c.733 p.V245L 0.905 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors GPT2 HGNC GSG2 83903 genome.wustl.edu 37 17 3627380 3627380 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 17 3627380 3627380 G A SNP GSG2 ENST00000325418 human ensembl 70_37 +1 known missense c.151 p.D51N 0.903 NULL pfam_DUF3635,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors GSG2 HGNC JMY 133746 genome.wustl.edu 37 5 78596013 78596013 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 5 78596013 78596013 G A SNP JMY ENST00000396137 human ensembl 70_37 +1 known missense c.1565 p.R522Q 0.002 NULL pfscan_WH2_dom - no_errors JMY HGNC KAZN 23254 genome.wustl.edu 37 1 14925500 14925500 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 1 14925500 14925500 G A SNP KAZN ENST00000376030 human ensembl 70_37 +1 known missense c.7 p.E3K 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC KDM4C 23081 genome.wustl.edu 37 9 6893237 6893237 + RNA SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 9 6893237 6893237 G T SNP KDM4C ENST00000476075 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors KDM4C HGNC KIF5B 3799 genome.wustl.edu 37 10 32311953 32311953 + Silent SNP T T A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 10 32311953 32311953 T A SNP KIF5B ENST00000302418 human ensembl 70_37 -1 known silent c.1737 p.G579 0.998 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC LRPPRC 10128 genome.wustl.edu 37 2 44175557 44175557 + Silent SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 2 44175557 44175557 C T SNP LRPPRC ENST00000260665 human ensembl 70_37 -1 known silent c.1836 p.E612 1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC LRPPRC 10128 genome.wustl.edu 37 2 44175581 44175581 + Missense_Mutation SNP C C G TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 2 44175581 44175581 C G SNP LRPPRC ENST00000260665 human ensembl 70_37 -1 known missense c.1812 p.L604F 1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC MANEAL 149175 genome.wustl.edu 37 1 38265771 38265771 + Missense_Mutation SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 1 38265771 38265771 C T SNP MANEAL ENST00000373045 human ensembl 70_37 +1 known missense c.1270 p.R424C 1.000 NULL NULL - no_errors MANEAL HGNC MIR3142 100422938 genome.wustl.edu 37 5 159901450 159901450 + RNA SNP C C A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 5 159901450 159901450 C A SNP MIR3142 ENST00000582487 human ensembl 70_37 +1 known rna NULL NULL 0.566 - - - no_errors MIR3142 HGNC KMT2D 8085 genome.wustl.edu 37 12 49447821 49447821 + Missense_Mutation SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 12 49447821 49447821 G T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known missense c.613 p.L205I 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC MMP12 4321 genome.wustl.edu 37 11 102733875 102733875 + RNA SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 11 102733875 102733875 G T SNP MMP12 ENST00000326227 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors MMP12 HGNC MYO15A 51168 genome.wustl.edu 37 17 18055214 18055214 + Silent SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 17 18055214 18055214 G T SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known silent c.7842 p.L2614 0.987 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC MYO15B 80022 genome.wustl.edu 37 17 73621254 73621254 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 17 73621254 73621254 G A SNP MYO15B ENST00000293201 human ensembl 70_37 +1 known missense c.913 p.A305T 0.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom - no_errors MYO15B HGNC NFXL1 152518 genome.wustl.edu 37 4 47850303 47850303 + Missense_Mutation SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 4 47850303 47850303 G T SNP NFXL1 ENST00000381538 human ensembl 70_37 -1 known missense c.2613 p.N871K 1.000 NULL pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING - no_errors NFXL1 HGNC OGFRL1 79627 genome.wustl.edu 37 6 72011666 72011666 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 6 72011666 72011666 G A SNP OGFRL1 ENST00000370435 human ensembl 70_37 +1 known missense c.1270 p.E424K 0.275 NULL pfam_OGF_rcpt - no_errors OGFRL1 HGNC OTOG 340990 genome.wustl.edu 37 11 17596370 17596370 + Silent SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 11 17596370 17596370 C T SNP OTOG ENST00000399391 human ensembl 70_37 +1 known silent c.2433 p.G811 0.000 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC PCDHGA11 56105 genome.wustl.edu 37 5 140802665 140802665 + Missense_Mutation SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 5 140802665 140802665 C T SNP PCDHGA11 ENST00000398587 human ensembl 70_37 +1 known missense c.1871 p.T624M 0.950 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC PDIA6 10130 genome.wustl.edu 37 2 10925075 10925075 + Missense_Mutation SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 2 10925075 10925075 G T SNP PDIA6 ENST00000381611 human ensembl 70_37 -1 known missense c.1254 p.D418E 0.757 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors PDIA6 HGNC PDZD2 23037 genome.wustl.edu 37 5 31799444 31799444 + Missense_Mutation SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 5 31799444 31799444 C T SNP PDZD2 ENST00000282493 human ensembl 70_37 +1 known missense c.89 p.P30L 0.996 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC PHLPP1 23239 genome.wustl.edu 37 18 60645815 60645815 + Silent SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 18 60645815 60645815 C T SNP PHLPP1 ENST00000262719 human ensembl 70_37 +1 known silent c.4305 p.S1435 0.068 NULL pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC PNKP 11284 genome.wustl.edu 37 19 50364613 50364613 + Nonsense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 19 50364613 50364613 G A SNP PNKP ENST00000600910 human ensembl 70_37 -1 novel nonsense c.1348 p.R450* 0.993 NULL pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA - no_errors PNKP HGNC PNLDC1 154197 genome.wustl.edu 37 6 160240108 160240108 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 6 160240108 160240108 G A SNP PNLDC1 ENST00000275275 human ensembl 70_37 +1 known missense c.1355 p.R452Q 0.010 NULL pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC POTEE 445582 genome.wustl.edu 37 2 131976013 131976013 + Missense_Mutation SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 2 131976013 131976013 C T SNP POTEE ENST00000356920 human ensembl 70_37 +1 known missense c.38 p.S13F 0.054 NULL pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEE Uniprot_genename RNF219 79596 genome.wustl.edu 37 13 79190472 79190472 + Missense_Mutation SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 13 79190472 79190472 G T SNP RNF219 ENST00000282003 human ensembl 70_37 -1 known missense c.1424 p.A475D 0.999 NULL pfscan_Znf_RING - no_errors RNF219 HGNC RYR2 6262 genome.wustl.edu 37 1 237811805 237811805 + Missense_Mutation SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 1 237811805 237811805 G T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.7398 p.M2466I 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC SCUBE2 57758 genome.wustl.edu 37 11 9088340 9088340 + Missense_Mutation SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 11 9088340 9088340 C T SNP SCUBE2 ENST00000457346 human ensembl 70_37 -1 known missense c.664 p.G222S 1.000 smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE2 HGNC SLC22A12 116085 genome.wustl.edu 37 11 64367308 64367308 + Missense_Mutation SNP G G C TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 11 64367308 64367308 G C SNP SLC22A12 ENST00000377574 human ensembl 70_37 +1 known missense c.1231 p.A411P 0.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC SLC35G2 80723 genome.wustl.edu 37 3 136573486 136573486 + Frame_Shift_Del DEL A A - TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 3 136573486 136573486 A - DEL SLC35G2 ENST00000393079 human ensembl 70_37 +1 known frame_shift_del c.184 p.66fs 1.000 NULL pfam_DMT - no_errors SLC35G2 HGNC SNTG2 54221 genome.wustl.edu 37 2 1271336 1271336 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 2 1271336 1271336 G A SNP SNTG2 ENST00000308624 human ensembl 70_37 +1 known missense c.1277 p.R426K 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC SSH2 85464 genome.wustl.edu 37 17 27977704 27977704 + Nonsense_Mutation SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 17 27977704 27977704 C T SNP SSH2 ENST00000269033 human ensembl 70_37 -1 known nonsense c.1113 p.W371* 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC SVEP1 79987 genome.wustl.edu 37 9 113170065 113170065 + Silent SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 9 113170065 113170065 G A SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known silent c.7815 p.I2605 0.198 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC TARS 6897 genome.wustl.edu 37 5 33467719 33467719 + Missense_Mutation SNP A A G TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 5 33467719 33467719 A G SNP TARS ENST00000265112 human ensembl 70_37 +1 known missense c.2078 p.N693S 1.000 pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC TBX20 57057 genome.wustl.edu 37 7 35288353 35288353 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 7 35288353 35288353 G A SNP TBX20 ENST00000408931 human ensembl 70_37 -1 known missense c.481 p.R161C 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC TCTEX1D2 255758 genome.wustl.edu 37 3 196042995 196042995 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 3 196042995 196042995 G A SNP TCTEX1D2 ENST00000325318 human ensembl 70_37 -1 known missense c.221 p.S74L 1.000 pfam_Tctex pfam_Tctex - no_errors TCTEX1D2 HGNC TP53BP1 7158 genome.wustl.edu 37 15 43700219 43700219 + Frame_Shift_Del DEL G G - TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 15 43700219 43700219 G - DEL TP53BP1 ENST00000382044 human ensembl 70_37 -1 known frame_shift_del c.5668 p.L1890fs 1.000 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC VAC14 55697 genome.wustl.edu 37 16 70726824 70726824 + Missense_Mutation SNP C C G TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 16 70726824 70726824 C G SNP VAC14 ENST00000261776 human ensembl 70_37 -1 known missense c.2086 p.A696P 1.000 pfam_VAC14_Fig4p-bd,superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ZBTB45 84878 genome.wustl.edu 37 19 59027764 59027764 + Missense_Mutation SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 19 59027764 59027764 G A SNP ZBTB45 ENST00000354590 human ensembl 70_37 -1 known missense c.1277 p.S426L 0.994 pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB45 HGNC ZDHHC7 55625 genome.wustl.edu 37 16 85011579 85011579 + Silent SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 16 85011579 85011579 C T SNP ZDHHC7 ENST00000344861 human ensembl 70_37 -1 known silent c.681 p.L227 0.002 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC7 HGNC ZNF474 133923 genome.wustl.edu 37 5 121488160 121488160 + Nonsense_Mutation SNP C C T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 5 121488160 121488160 C T SNP ZNF474 ENST00000296600 human ensembl 70_37 +1 known nonsense c.475 p.Q159* 0.845 NULL pfscan_Znf_C2H2 - no_errors ZNF474 HGNC ZNF614 80110 genome.wustl.edu 37 19 52521309 52521309 + Missense_Mutation SNP G G T TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8a67f3a7-427a-418d-b0bc-a6cdef6a5369 44a3f604-288d-419f-b3fe-cf02924d7cbe 19 52521309 52521309 G T SNP ZNF614 ENST00000270649 human ensembl 70_37 -1 known missense c.190 p.Q64K 0.018 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 ZNF614 HGNC