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 ACSS2 55902 genome.wustl.edu 37 20 33513535 33513535 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 20 33513535 33513535 C T SNP ACSS2 ENST00000480978 human ensembl 70_37 +1 known missense c.518 p.S173L 1.000 NULL pfam_Acyl-CoA_synth_DUF3448 - no_errors ACSS2 HGNC ADRA1B 147 genome.wustl.edu 37 5 159344627 159344627 + Missense_Mutation SNP G G T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 5 159344627 159344627 G T SNP ADRA1B ENST00000306675 human ensembl 70_37 +1 known missense c.715 p.A239S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1B,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1B HGNC AMZ1 155185 genome.wustl.edu 37 7 2740305 2740305 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 7 2740305 2740305 C T SNP AMZ1 ENST00000312371 human ensembl 70_37 +1 known missense c.220 p.P74S 0.998 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ1 HGNC ARNT2 9915 genome.wustl.edu 37 15 80762742 80762742 + Silent SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 15 80762742 80762742 C T SNP ARNT2 ENST00000303329 human ensembl 70_37 +1 known silent c.378 p.G126 0.998 superfamily_HLH_dom 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 ARNT2 HGNC ATG2B 55102 genome.wustl.edu 37 14 96811053 96811053 + Missense_Mutation SNP C C G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 14 96811053 96811053 C G SNP ATG2B ENST00000359933 human ensembl 70_37 -1 known missense c.519 p.L173F 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC BACH1 571 genome.wustl.edu 37 21 30698588 30698588 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 21 30698588 30698588 C T SNP BACH1 ENST00000286800 human ensembl 70_37 +1 known missense c.443 p.S148L 0.042 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC C1orf21 81563 genome.wustl.edu 37 1 184446657 184446657 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 1 184446657 184446657 C T SNP C1orf21 ENST00000235307 human ensembl 70_37 +1 known missense c.14 p.S5F 1.000 NULL NULL - no_errors C1orf21 HGNC C1orf85 112770 genome.wustl.edu 37 1 156263856 156263856 + Nonsense_Mutation SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 1 156263856 156263856 G A SNP C1orf85 ENST00000362007 human ensembl 70_37 -1 known nonsense c.751 p.Q251* 0.475 NULL NULL - no_errors C1orf85 HGNC SMIM14 201895 genome.wustl.edu 37 4 39606751 39606751 + Silent SNP T T C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 4 39606751 39606751 T C SNP C4orf34 ENST00000295958 human ensembl 70_37 -1 known silent c.15 p.G5 1.000 pfam_Uncharacterised_CD034/YQF4 pfam_Uncharacterised_CD034/YQF4 - no_errors C4orf34 HGNC CDC27 996 genome.wustl.edu 37 17 45234397 45234397 + Missense_Mutation SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 17 45234397 45234397 G A SNP CDC27 ENST00000531206 human ensembl 70_37 -1 known missense c.724 p.P242S 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC CDH4 1002 genome.wustl.edu 37 20 60498574 60498574 + Silent SNP G G C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 20 60498574 60498574 G C SNP CDH4 ENST00000360469 human ensembl 70_37 +1 known silent c.1440 p.L480 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH4 HGNC CELP 1057 genome.wustl.edu 37 9 135962599 135962600 + RNA INS - - G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 9 135962599 135962600 - G INS CELP ENST00000411440 human ensembl 70_37 +1 known rna NULL NULL 0.184:0.043 - - - no_errors CELP HGNC CELP 1057 genome.wustl.edu 37 9 135962600 135962601 + RNA INS - - T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 9 135962600 135962601 - T INS CELP ENST00000411440 human ensembl 70_37 +1 known rna NULL NULL 0.043:0.023 - - - no_errors CELP HGNC CHD7 55636 genome.wustl.edu 37 8 61778087 61778087 + Silent SNP T T C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 8 61778087 61778087 T C SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known silent c.8589 p.A2863 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC CSE1L 1434 genome.wustl.edu 37 20 47691934 47691934 + Silent SNP C C A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 20 47691934 47691934 C A SNP CSE1L ENST00000262982 human ensembl 70_37 +1 known silent c.1212 p.I404 1.000 pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC DNAI2 64446 genome.wustl.edu 37 17 72285876 72285876 + Splice_Site SNP G G T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 17 72285876 72285876 G T SNP DNAI2 ENST00000311014 human ensembl 70_37 +1 known splice_site c.610+1 e4+1 1.000 - - - no_errors DNAI2 HGNC DOT1L 84444 genome.wustl.edu 37 19 2210818 2210818 + Nonsense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 19 2210818 2210818 C T SNP DOT1L ENST00000398665 human ensembl 70_37 +1 known nonsense c.1315 p.Q439* 0.999 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC DZIP1L 199221 genome.wustl.edu 37 3 137816688 137816688 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 3 137816688 137816688 C T SNP DZIP1L ENST00000327532 human ensembl 70_37 -1 known missense c.503 p.C168Y 1.000 pfscan_Znf_C2H2 pfscan_Znf_C2H2 - no_errors DZIP1L HGNC EGFL8 80864 genome.wustl.edu 37 6 32134696 32134696 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 6 32134696 32134696 C T SNP EGFL8 ENST00000333845 human ensembl 70_37 +1 known missense c.344 p.A115V 0.977 pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EMI_domain,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors EGFL8 HGNC ENSG00000169203 0 genome.wustl.edu 37 16 29496834 29496834 + Silent SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 16 29496834 29496834 C T SNP ENSG00000169203 ENST00000354563 human ensembl 70_37 -1 known silent c.441 p.K147 0.001 pfam_NPIP pfam_NPIP - no_errors 61E3.4 Uniprot_genename ENSG00000205664 0 genome.wustl.edu 37 X 3761463 3761463 + Missense_Mutation SNP C C G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 X 3761463 3761463 C G SNP ENSG00000205664 ENST00000425492 human ensembl 70_37 -1 known missense c.61 p.E21Q 0.007 NULL NULL - no_errors RP11-706O15.1 Clone_based_vega_gene EYA1 2138 genome.wustl.edu 37 8 72129214 72129214 + Silent SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 8 72129214 72129214 G A SNP EYA1 ENST00000340726 human ensembl 70_37 -1 known silent c.1185 p.N395 0.832 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC FERD3L 222894 genome.wustl.edu 37 7 19184752 19184752 + Silent SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 7 19184752 19184752 C T SNP FERD3L ENST00000275461 human ensembl 70_37 -1 known silent c.234 p.E78 0.998 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors FERD3L HGNC FLG2 388698 genome.wustl.edu 37 1 152324211 152324211 + Missense_Mutation SNP C C G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 1 152324211 152324211 C G SNP FLG2 ENST00000388718 human ensembl 70_37 -1 known missense c.6051 p.Q2017H 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC FOXN1 8456 genome.wustl.edu 37 17 26851603 26851603 + Missense_Mutation SNP G G T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 17 26851603 26851603 G T SNP FOXN1 ENST00000226247 human ensembl 70_37 +1 known missense c.206 p.R69L 0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN1 HGNC FRY 10129 genome.wustl.edu 37 13 32691498 32691498 + Missense_Mutation SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 13 32691498 32691498 G A SNP FRY ENST00000380250 human ensembl 70_37 +1 known missense c.352 p.E118K 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC GATSL3 652968 genome.wustl.edu 37 22 30682031 30682031 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 22 30682031 30682031 C T SNP GATSL3 ENST00000407689 human ensembl 70_37 -1 known missense c.800 p.R267H 1.000 NULL NULL - no_errors GATSL3 HGNC HIST1H4C 8364 genome.wustl.edu 37 6 26104310 26104310 + Missense_Mutation SNP G G C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 6 26104310 26104310 G C SNP HIST1H4C ENST00000377803 human ensembl 70_37 +1 known missense c.135 p.K45N 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4C HGNC HTR4 3360 genome.wustl.edu 37 5 147889077 147889077 + Missense_Mutation SNP G G C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 5 147889077 147889077 G C SNP HTR4 ENST00000360693 human ensembl 70_37 -1 known missense c.1018 p.L340V 1.000 prints_5HT4_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn - no_errors HTR4 HGNC HTR4 3360 genome.wustl.edu 37 5 147889204 147889204 + Silent SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 5 147889204 147889204 G A SNP HTR4 ENST00000360693 human ensembl 70_37 -1 known silent c.891 p.F297 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn - no_errors HTR4 HGNC INPP5K 51763 genome.wustl.edu 37 17 1416809 1416809 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 17 1416809 1416809 C T SNP INPP5K ENST00000421807 human ensembl 70_37 -1 known missense c.199 p.A67T 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5K HGNC ITIH1 3697 genome.wustl.edu 37 3 52816048 52816048 + Silent SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 3 52816048 52816048 C T SNP ITIH1 ENST00000273283 human ensembl 70_37 +1 known silent c.780 p.Y260 0.141 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC KIAA2022 340533 genome.wustl.edu 37 X 73962042 73962042 + Missense_Mutation SNP T T G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 X 73962042 73962042 T G SNP KIAA2022 ENST00000055682 human ensembl 70_37 -1 known missense c.2350 p.S784R 1.000 NULL NULL - no_errors KIAA2022 HGNC KRT10 3858 genome.wustl.edu 37 17 38975036 38975037 + Splice_Site INS - - ACCT TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 17 38975036 38975037 - ACCT INS KRT10 ENST00000269576 human ensembl 70_37 -1 known splice_site_ins c.1748+2_1748+1 e7+2 1.000:1.000 - - - no_errors KRT10 HGNC LRFN1 57622 genome.wustl.edu 37 19 39805372 39805372 + Missense_Mutation SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 19 39805372 39805372 G A SNP LRFN1 ENST00000248668 human ensembl 70_37 -1 known missense c.605 p.A202V 0.987 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN1 HGNC LRRC63 220416 genome.wustl.edu 37 13 46802139 46802139 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 13 46802139 46802139 C T SNP LRRC63 ENST00000446175 human ensembl 70_37 +1 known missense c.578 p.S193L 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC63 HGNC MT-ND5 4540 genome.wustl.edu 37 MT 13361 13361 + Missense_Mutation SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 MT 13361 13361 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.1025 p.C342Y NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MYH10 4628 genome.wustl.edu 37 17 8381716 8381716 + Silent SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 17 8381716 8381716 C T SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known silent c.5616 p.L1872 1.000 pfam_Myosin_tail,superfamily_HR1_rho-bd pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC MYO5C 55930 genome.wustl.edu 37 15 52513369 52513369 + Missense_Mutation SNP C C G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 15 52513369 52513369 C G SNP MYO5C ENST00000261839 human ensembl 70_37 -1 known missense c.3711 p.E1237D 0.930 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC MYT1L 23040 genome.wustl.edu 37 2 1921047 1921047 + Silent SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 2 1921047 1921047 G A SNP MYT1L ENST00000399161 human ensembl 70_37 -1 known silent c.1548 p.H516 0.996 pfam_Znf_C2HC pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC NET1 10276 genome.wustl.edu 37 10 5493809 5493809 + Missense_Mutation SNP G G C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 10 5493809 5493809 G C SNP NET1 ENST00000355029 human ensembl 70_37 +1 known missense c.272 p.R91T 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors NET1 HGNC NLN 57486 genome.wustl.edu 37 5 65058893 65058893 + Missense_Mutation SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 5 65058893 65058893 G A SNP NLN ENST00000380985 human ensembl 70_37 +1 known missense c.408 p.M136I 1.000 NULL pfam_Pept_M3A_M3B - no_errors NLN HGNC OR2T35 403244 genome.wustl.edu 37 1 248801602 248801603 + Frame_Shift_Ins INS - - CA TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 1 248801602 248801603 - CA INS OR2T35 ENST00000317450 human ensembl 70_37 -1 known frame_shift_ins c.958_957 p.I319fs 0.000:0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T35 HGNC PCDHB6 56130 genome.wustl.edu 37 5 140531440 140531440 + Silent SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 5 140531440 140531440 C T SNP PCDHB6 ENST00000231136 human ensembl 70_37 +1 known silent c.1602 p.R534 0.006 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 PCDHB6 HGNC PDS5A 23244 genome.wustl.edu 37 4 39868556 39868556 + Missense_Mutation SNP G G C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 4 39868556 39868556 G C SNP PDS5A ENST00000303538 human ensembl 70_37 -1 known missense c.2567 p.S856C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC PKHD1L1 93035 genome.wustl.edu 37 8 110476533 110476533 + Missense_Mutation SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 8 110476533 110476533 G A SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.7472 p.R2491K 1.000 superfamily_Pectin_lyase_fold/virulence pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC PRSS1 5644 genome.wustl.edu 37 7 142458938 142458938 + Missense_Mutation SNP T T A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 7 142458938 142458938 T A SNP PRSS1 ENST00000486171 human ensembl 70_37 +1 novel missense c.219 p.F73L 0.043 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS1 HGNC PSMD12 5718 genome.wustl.edu 37 17 65337163 65337163 + Silent SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 17 65337163 65337163 G A SNP PSMD12 ENST00000356126 human ensembl 70_37 -1 known silent c.1167 p.S389 0.976 pfam_PCI_dom,smart_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors PSMD12 HGNC PTCHD1 139411 genome.wustl.edu 37 X 23397865 23397865 + Missense_Mutation SNP A A G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 X 23397865 23397865 A G SNP PTCHD1 ENST00000379361 human ensembl 70_37 +1 known missense c.509 p.N170S 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC PTK2B 2185 genome.wustl.edu 37 8 27294966 27294966 + Missense_Mutation SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 8 27294966 27294966 G A SNP PTK2B ENST00000346049 human ensembl 70_37 +1 known missense c.1480 p.E494K 0.983 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC PTPRC 5788 genome.wustl.edu 37 1 198721825 198721825 + Nonsense_Mutation SNP A A T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 1 198721825 198721825 A T SNP PTPRC ENST00000442510 human ensembl 70_37 +1 known nonsense c.3433 p.K1145* 0.879 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC RAD21 5885 genome.wustl.edu 37 8 117868503 117868503 + Missense_Mutation SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 8 117868503 117868503 G A SNP RAD21 ENST00000297338 human ensembl 70_37 -1 known missense c.839 p.S280L 1.000 NULL pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA - no_errors RAD21 HGNC RHD 6007 genome.wustl.edu 37 1 25634201 25634201 + Missense_Mutation SNP G G C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 1 25634201 25634201 G C SNP RHD ENST00000342055 human ensembl 70_37 +1 putative missense c.1137 p.L379F 0.005 NULL pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHD HGNC RUNX1T1 862 genome.wustl.edu 37 8 92982945 92982945 + Nonsense_Mutation SNP T T A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 8 92982945 92982945 T A SNP RUNX1T1 ENST00000436581 human ensembl 70_37 -1 known nonsense c.1513 p.K505* 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC SLC4A1AP 22950 genome.wustl.edu 37 2 27905202 27905202 + Missense_Mutation SNP C C A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 2 27905202 27905202 C A SNP SLC4A1AP ENST00000326019 human ensembl 70_37 +1 known missense c.1851 p.F617L 1.000 NULL pfam_FHA_dom,pfam_Ds-RNA-bd,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC SPTLC2 9517 genome.wustl.edu 37 14 78045425 78045425 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 14 78045425 78045425 C T SNP SPTLC2 ENST00000216484 human ensembl 70_37 -1 known missense c.355 p.E119K 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC2 HGNC SRSF3 6428 genome.wustl.edu 37 6 36564728 36564728 + Silent SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 6 36564728 36564728 C T SNP SRSF3 ENST00000373715 human ensembl 70_37 +1 known silent c.189 p.V63 0.986 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF3 HGNC SSPO 23145 genome.wustl.edu 37 7 149508049 149508049 + RNA SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 7 149508049 149508049 G A SNP SSPO ENST00000378016 human ensembl 70_37 +1 known rna NULL NULL 0.862 - - - no_errors SSPO HGNC ST3GAL2 6483 genome.wustl.edu 37 16 70416789 70416789 + Missense_Mutation SNP G G C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 16 70416789 70416789 G C SNP ST3GAL2 ENST00000342907 human ensembl 70_37 -1 known missense c.798 p.H266Q 0.337 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL2 HGNC STXBP6 29091 genome.wustl.edu 37 14 25288491 25288491 + Missense_Mutation SNP G G T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 14 25288491 25288491 G T SNP STXBP6 ENST00000548369 human ensembl 70_37 -1 known missense c.55 p.P19T 0.001 NULL pfam_Synaptobrevin,pfscan_Synaptobrevin - no_errors STXBP6 HGNC SYNE1 23345 genome.wustl.edu 37 6 152555007 152555007 + Missense_Mutation SNP G G C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 6 152555007 152555007 G C SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.20621 p.T6874R 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC TAB2 23118 genome.wustl.edu 37 6 149719189 149719189 + Missense_Mutation SNP C C G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 6 149719189 149719189 C G SNP TAB2 ENST00000286332 human ensembl 70_37 +1 known missense c.1849 p.Q617E 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC TEFM 79736 genome.wustl.edu 37 17 29227461 29227461 + Silent SNP T T G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 17 29227461 29227461 T G SNP TEFM ENST00000581216 human ensembl 70_37 -1 known silent c.615 p.G205 0.988 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors TEFM HGNC TFCP2L1 29842 genome.wustl.edu 37 2 121989525 121989525 + Silent SNP C C G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 2 121989525 121989525 C G SNP TFCP2L1 ENST00000263707 human ensembl 70_37 -1 known silent c.1218 p.L406 1.000 NULL pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2L1 HGNC TOP2A 7153 genome.wustl.edu 37 17 38562885 38562885 + Missense_Mutation SNP C C A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 17 38562885 38562885 C A SNP TOP2A ENST00000423485 human ensembl 70_37 -1 known missense c.1794 p.W598C 1.000 superfamily_Topo_IIA_cen,smart_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors TOP2A HGNC TTC8 123016 genome.wustl.edu 37 14 89300049 89300049 + Missense_Mutation SNP G G A TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 14 89300049 89300049 G A SNP TTC8 ENST00000380656 human ensembl 70_37 +1 known missense c.127 p.E43K 0.916 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC8 HGNC TTN 7273 genome.wustl.edu 37 2 179611840 179611840 + Missense_Mutation SNP G G C TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 2 179611840 179611840 G C SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.15287 p.S5096C 0.446 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC UBE2T 29089 genome.wustl.edu 37 1 202302388 202302388 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 1 202302388 202302388 C T SNP UBE2T ENST00000367274 human ensembl 70_37 -1 known missense c.361 p.D121N 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2T HGNC XRRA1 143570 genome.wustl.edu 37 11 74554326 74554326 + Missense_Mutation SNP C C G TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 11 74554326 74554326 C G SNP XRRA1 ENST00000340360 human ensembl 70_37 -1 known missense c.2298 p.E766D 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ZFHX4 79776 genome.wustl.edu 37 8 77763451 77763451 + Missense_Mutation SNP C C T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 8 77763451 77763451 C T SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known missense c.4294 p.R1432C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ZFP69B 65243 genome.wustl.edu 37 1 40928938 40928938 + Frame_Shift_Del DEL T T - TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c2dd5816-3dfb-4ad9-b3ca-a619cf70fb23 c4d565a5-8321-4cf0-899d-cb5beb75f2b9 1 40928938 40928938 T - DEL ZNF643 ENST00000411995 human ensembl 70_37 +1 known frame_shift_del c.1282 p.F428fs 0.770 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF643 HGNC