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 ACAD10 80724 genome.wustl.edu 37 12 112130576 112130576 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 12 112130576 112130576 G A SNP ACAD10 ENST00000455480 human ensembl 70_37 +1 known silent c.63 p.L21 0.006 NULL pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Dehalogen-like_hydro,superfamily_AcylCoA_DH/oxidase,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3 - no_errors ACAD10 HGNC ADAMTS6 11174 genome.wustl.edu 37 5 64466540 64466540 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 5 64466540 64466540 C T SNP ADAMTS6 ENST00000381055 human ensembl 70_37 -1 known missense c.3148 p.G1050R 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS6 HGNC AHNAK 79026 genome.wustl.edu 37 11 62300590 62300590 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 62300590 62300590 C T SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known silent c.1299 p.K433 0.184 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC AKAP3 10566 genome.wustl.edu 37 12 4736232 4736232 + Missense_Mutation SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 12 4736232 4736232 G T SNP AKAP3 ENST00000228850 human ensembl 70_37 -1 known missense c.1836 p.S612R 0.000 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ANKFN1 162282 genome.wustl.edu 37 17 54534305 54534305 + Missense_Mutation SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 17 54534305 54534305 G T SNP ANKFN1 ENST00000318698 human ensembl 70_37 +1 known missense c.1300 p.V434L 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ARPP21 10777 genome.wustl.edu 37 3 35763138 35763138 + Missense_Mutation SNP A A G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 3 35763138 35763138 A G SNP ARPP21 ENST00000417925 human ensembl 70_37 +1 known missense c.935 p.Q312R 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ATP2C1 27032 genome.wustl.edu 37 3 130735010 130735010 + Missense_Mutation SNP G G C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 3 130735010 130735010 G C SNP ATP2C1 ENST00000393221 human ensembl 70_37 +1 known missense c.2841 p.E947D 0.216 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2C1 HGNC ATP4A 495 genome.wustl.edu 37 19 36045926 36045926 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 19 36045926 36045926 C T SNP ATP4A ENST00000262623 human ensembl 70_37 -1 known silent c.2379 p.K793 1.000 tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP4A HGNC ATP7A 538 genome.wustl.edu 37 X 77264738 77264738 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 77264738 77264738 G A SNP ATP7A ENST00000341514 human ensembl 70_37 +1 known missense c.1847 p.R616K 1.000 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC AUTS2 26053 genome.wustl.edu 37 7 70255358 70255358 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 7 70255358 70255358 C T SNP AUTS2 ENST00000342771 human ensembl 70_37 +1 known silent c.3156 p.I1052 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC BAG3 9531 genome.wustl.edu 37 10 121429618 121429618 + Nonsense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 10 121429618 121429618 C T SNP BAG3 ENST00000369085 human ensembl 70_37 +1 known nonsense c.436 p.Q146* 1.000 NULL pfam_BAG_domain,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_BAG_domain,pfscan_BAG_domain,pfscan_WW_Rsp5_WWP - no_errors BAG3 HGNC BIVM 54841 genome.wustl.edu 37 13 103468786 103468786 + Missense_Mutation SNP A A G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 13 103468786 103468786 A G SNP BIVM ENST00000257336 human ensembl 70_37 +1 known missense c.487 p.K163E 1.000 NULL NULL - no_errors BIVM HGNC C11orf40 143501 genome.wustl.edu 37 11 4598948 4598948 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 4598948 4598948 C T SNP C11orf40 ENST00000307616 human ensembl 70_37 -1 known missense c.103 p.E35K 0.004 NULL NULL - no_errors C11orf40 HGNC C3orf27 23434 genome.wustl.edu 37 3 128292319 128292320 + Frame_Shift_Del DEL TC TC - TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 3 128292319 128292320 TC - DEL C3orf27 ENST00000356020 human ensembl 70_37 -1 known frame_shift_del c.254_253 p.D85fs 0.075:0.076 NULL NULL - no_errors C3orf27 HGNC C4orf40 401137 genome.wustl.edu 37 4 71008261 71008261 + RNA SNP C C G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 4 71008261 71008261 C G SNP C4orf40 ENST00000502441 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C4orf40 HGNC C5 727 genome.wustl.edu 37 9 123800210 123800210 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 9 123800210 123800210 C T SNP C5 ENST00000223642 human ensembl 70_37 -1 known silent c.441 p.S147 0.663 pfam_A2M_N pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C5 HGNC CADM1 23705 genome.wustl.edu 37 11 115047213 115047213 + Missense_Mutation SNP T T A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 115047213 115047213 T A SNP CADM1 ENST00000452722 human ensembl 70_37 -1 known missense c.1310 p.K437M 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM1 HGNC CALHM2 51063 genome.wustl.edu 37 10 105209516 105209516 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 10 105209516 105209516 G A SNP CALHM2 ENST00000260743 human ensembl 70_37 -1 known silent c.183 p.I61 0.736 NULL NULL - no_errors CALHM2 HGNC CCDC171 203238 genome.wustl.edu 37 9 15695319 15695319 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 9 15695319 15695319 G A SNP CCDC171 ENST00000380701 human ensembl 70_37 +1 known silent c.1302 p.S434 0.996 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC CDK2AP2 10263 genome.wustl.edu 37 11 67274909 67274909 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 67274909 67274909 G A SNP CDK2AP2 ENST00000301488 human ensembl 70_37 -1 known silent c.240 p.V80 1.000 pfam_Cyclin-dep_kinase2-assoc_pr,pirsf_CDK2-associated_2 pfam_Cyclin-dep_kinase2-assoc_pr,pirsf_CDK2-associated_2 - no_errors CDK2AP2 HGNC CELA2A 63036 genome.wustl.edu 37 1 15783232 15783232 + RNA SNP A A G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 15783232 15783232 A G SNP CELA2A ENST00000459653 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CELA2A HGNC CFHR5 81494 genome.wustl.edu 37 1 196977806 196977806 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 196977806 196977806 G A SNP CFHR5 ENST00000367414 human ensembl 70_37 +1 known missense c.1775 p.C592Y 0.415 superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC CLTCL1 8218 genome.wustl.edu 37 22 19213066 19213066 + Nonsense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 22 19213066 19213066 G A SNP CLTCL1 ENST00000263200 human ensembl 70_37 -1 known nonsense c.2038 p.Q680* 1.000 superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC COLEC11 78989 genome.wustl.edu 37 2 3691113 3691113 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 3691113 3691113 C T SNP COLEC11 ENST00000418971 human ensembl 70_37 +1 known silent c.450 p.L150 0.844 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC11 HGNC COX5A 9377 genome.wustl.edu 37 15 75219205 75219205 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 15 75219205 75219205 C T SNP COX5A ENST00000322347 human ensembl 70_37 -1 known missense c.241 p.D81N 1.000 pfam_Cyt_c_oxidase_su5A/6,superfamily_Cyt_c_oxidase_su5A/6 pfam_Cyt_c_oxidase_su5A/6,superfamily_Cyt_c_oxidase_su5A/6 - no_errors COX5A HGNC CTBP1-AS2 92070 genome.wustl.edu 37 4 1245063 1245063 + RNA SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 4 1245063 1245063 C T SNP CTBP1-AS1 ENST00000357591 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTBP1-AS1 HGNC CTSE 1510 genome.wustl.edu 37 1 206325421 206325421 + Missense_Mutation SNP T T C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 206325421 206325421 T C SNP CTSE ENST00000361052 human ensembl 70_37 +1 known missense c.661 p.S221P 1.000 pfam_Peptidase_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors CTSE HGNC CXCR4 7852 genome.wustl.edu 37 2 136873458 136873458 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 136873458 136873458 C T SNP CXCR4 ENST00000409817 human ensembl 70_37 -1 known missense c.52 p.E18K 0.936 pfam_Chemokine_CXCR4_N pfam_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CXCR4 HGNC CYP2B7P1 1556 genome.wustl.edu 37 19 41455118 41455118 + RNA SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 19 41455118 41455118 G A SNP CYP2B7P1 ENST00000599198 human ensembl 70_37 +1 known rna NULL NULL 0.753 - - - no_errors CYP2B7P1 HGNC DGCR6 8214 genome.wustl.edu 37 22 18899215 18899215 + RNA SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 22 18899215 18899215 G A SNP DGCR6 ENST00000436645 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DGCR6 HGNC DSP 1832 genome.wustl.edu 37 6 7583774 7583774 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 6 7583774 7583774 C T SNP DSP ENST00000379802 human ensembl 70_37 +1 known silent c.6279 p.I2093 0.975 smart_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC EDDM3B 64184 genome.wustl.edu 37 14 21238475 21238475 + Nonsense_Mutation SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 14 21238475 21238475 G T SNP EDDM3B ENST00000326783 human ensembl 70_37 +1 known nonsense c.166 p.E56* 0.002 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain - no_errors EDDM3B HGNC EEF2 1938 genome.wustl.edu 37 19 3978083 3978083 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 19 3978083 3978083 G A SNP EEF2 ENST00000309311 human ensembl 70_37 -1 known missense c.1801 p.R601W 1.000 superfamily_Ribosomal_S5_D2-typ_fold pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC EGR1 1958 genome.wustl.edu 37 5 137801471 137801471 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 5 137801471 137801471 G A SNP EGR1 ENST00000239938 human ensembl 70_37 +1 known silent c.21 p.E7 1.000 NULL pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC EHD1 10938 genome.wustl.edu 37 11 64622268 64622268 + Missense_Mutation SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 64622268 64622268 G T SNP EHD1 ENST00000320631 human ensembl 70_37 -1 known missense c.1142 p.T381K 0.998 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD1 HGNC EHMT2 10919 genome.wustl.edu 37 6 31855591 31855591 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 6 31855591 31855591 G A SNP EHMT2 ENST00000395728 human ensembl 70_37 -1 known silent c.2064 p.A688 0.998 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC EHMT2 10919 genome.wustl.edu 37 6 31855658 31855658 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 6 31855658 31855658 G A SNP EHMT2 ENST00000395728 human ensembl 70_37 -1 known missense c.1997 p.S666F 0.978 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000170858 0 genome.wustl.edu 37 19 55220959 55220959 + RNA SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 19 55220959 55220959 G T SNP ENSG00000170858 ENST00000413439 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC006293.3 Clone_based_vega_gene ENSG00000226668 0 genome.wustl.edu 37 9 95646227 95646227 + RNA SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 9 95646227 95646227 C T SNP ENSG00000226668 ENST00000411450 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000239395 0 genome.wustl.edu 37 1 247886380 247886380 + RNA SNP C C G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 247886380 247886380 C G SNP ENSG00000239395 ENST00000426444 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-634B7.5 Clone_based_vega_gene ENSG00000268310 0 genome.wustl.edu 37 17 76212853 76212853 + Missense_Mutation SNP G G C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 17 76212853 76212853 G C SNP ENSG00000268310 ENST00000600484 human ensembl 70_37 -1 known missense c.744 p.F248L 1.000 NULL NULL - no_errors AC087645.1 Clone_based_ensembl_gene FAM160B2 64760 genome.wustl.edu 37 8 21958969 21958969 + Silent SNP C C G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 8 21958969 21958969 C G SNP FAM160B2 ENST00000289921 human ensembl 70_37 +1 known silent c.1635 p.P545 0.032 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160B2 HGNC FAM198B 51313 genome.wustl.edu 37 4 159092077 159092077 + Nonsense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 4 159092077 159092077 G A SNP FAM198B ENST00000393807 human ensembl 70_37 -1 known nonsense c.451 p.Q151* 0.012 NULL NULL - no_errors FAM198B HGNC GDF10 2662 genome.wustl.edu 37 10 48438679 48438679 + Missense_Mutation SNP C C G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 10 48438679 48438679 C G SNP GDF10 ENST00000224605 human ensembl 70_37 -1 known missense c.32 p.G11A 0.000 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors GDF10 HGNC GOLGA5 9950 genome.wustl.edu 37 14 93264171 93264171 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 14 93264171 93264171 C T SNP GOLGA5 ENST00000163416 human ensembl 70_37 +1 known missense c.389 p.S130L 1.000 NULL pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin - no_errors GOLGA5 HGNC GRAMD1C 54762 genome.wustl.edu 37 3 113659095 113659095 + Missense_Mutation SNP C C G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 3 113659095 113659095 C G SNP GRAMD1C ENST00000358160 human ensembl 70_37 +1 known missense c.1811 p.S604C 0.966 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1C HGNC GRAMD2 196996 genome.wustl.edu 37 15 72457721 72457721 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 15 72457721 72457721 C T SNP GRAMD2 ENST00000309731 human ensembl 70_37 -1 known missense c.574 p.E192K 0.997 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD2 HGNC GRPR 2925 genome.wustl.edu 37 X 16170721 16170721 + Missense_Mutation SNP A A G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 16170721 16170721 A G SNP GRPR ENST00000380289 human ensembl 70_37 +1 known missense c.1108 p.T370A 1.000 prints_Gastrin_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC GTDC1 79712 genome.wustl.edu 37 2 144969112 144969113 + RNA INS - - G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 144969112 144969113 - G INS GTDC1 ENST00000467352 human ensembl 70_37 -1 known rna NULL NULL 0.990:0.988 - - - no_errors GTDC1 HGNC HAX1 10456 genome.wustl.edu 37 1 154245995 154245995 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 154245995 154245995 C T SNP HAX1 ENST00000483970 human ensembl 70_37 +1 known silent c.237 p.F79 0.997 pirsf_HS1--assoc_X-1 pirsf_HS1--assoc_X-1 - no_errors HAX1 HGNC HELZ2 85441 genome.wustl.edu 37 20 62191301 62191301 + Missense_Mutation SNP T T C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 20 62191301 62191301 T C SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.7805 p.Q2602R 1.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC HPCAL4 51440 genome.wustl.edu 37 1 40149741 40149741 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 40149741 40149741 G A SNP HPCAL4 ENST00000372844 human ensembl 70_37 -1 known silent c.246 p.F82 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors HPCAL4 HGNC IGSF1 3547 genome.wustl.edu 37 X 130411002 130411002 + Missense_Mutation SNP C C A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 130411002 130411002 C A SNP IGSF1 ENST00000370903 human ensembl 70_37 -1 known missense c.2534 p.G845V 0.812 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF1 HGNC ITCH 83737 genome.wustl.edu 37 20 33077688 33077688 + Missense_Mutation SNP G G C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 20 33077688 33077688 G C SNP ITCH ENST00000262650 human ensembl 70_37 +1 known missense c.2399 p.R800P 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors ITCH HGNC ITIH6 347365 genome.wustl.edu 37 X 54823504 54823504 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 54823504 54823504 C T SNP ITIH6 ENST00000218436 human ensembl 70_37 -1 known missense c.128 p.R43H 0.000 pfam_VIT,smart_VIT pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC KAT6A 7994 genome.wustl.edu 37 8 41789766 41789766 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 8 41789766 41789766 C T SNP KAT6A ENST00000265713 human ensembl 70_37 -1 known missense c.5972 p.G1991D 0.998 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC KCNH6 81033 genome.wustl.edu 37 17 61611639 61611639 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 17 61611639 61611639 C T SNP KCNH6 ENST00000583023 human ensembl 70_37 +1 known silent c.1068 p.F356 0.502 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC KCNT2 343450 genome.wustl.edu 37 1 196342292 196342292 + Missense_Mutation SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 196342292 196342292 G T SNP KCNT2 ENST00000294725 human ensembl 70_37 -1 known missense c.1381 p.L461M 0.999 pfam_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT2 HGNC KHDRBS1 10657 genome.wustl.edu 37 1 32508537 32508537 + RNA DEL A A - TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 32508537 32508537 A - DEL KHDRBS1 ENST00000307714 human ensembl 70_37 +1 known rna NULL NULL 0.903 - - - no_errors KHDRBS1 HGNC KL 9365 genome.wustl.edu 37 13 33629357 33629357 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 13 33629357 33629357 G A SNP KL ENST00000380099 human ensembl 70_37 +1 known missense c.1504 p.E502K 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC LETM1 3954 genome.wustl.edu 37 4 1824729 1824729 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 4 1824729 1824729 G A SNP LETM1 ENST00000302787 human ensembl 70_37 -1 known missense c.1462 p.R488C 0.000 NULL pfam_LETM1,pfscan_EF_HAND_2 - no_errors LETM1 HGNC LGALS12 85329 genome.wustl.edu 37 11 63277954 63277954 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 63277954 63277954 G A SNP LGALS12 ENST00000340246 human ensembl 70_37 +1 known missense c.581 p.R194K 0.005 NULL pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS12 HGNC LIN9 286826 genome.wustl.edu 37 1 226438593 226438593 + Nonsense_Mutation SNP T T A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 226438593 226438593 T A SNP LIN9 ENST00000328205 human ensembl 70_37 -1 known nonsense c.1114 p.K372* 1.000 NULL pfam_DIRP - no_errors LIN9 HGNC LOC100996870 100996870 genome.wustl.edu 37 9 66466650 66466650 + RNA SNP G G C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 9 66466650 66466650 G C SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.105 - - - no_errors RP11-262H14.1 Clone_based_vega_gene LRPPRC 10128 genome.wustl.edu 37 2 44161914 44161914 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 44161914 44161914 C T SNP LRPPRC ENST00000260665 human ensembl 70_37 -1 known missense c.2608 p.E870K 1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC MACC1 346389 genome.wustl.edu 37 7 20198840 20198840 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 7 20198840 20198840 G A SNP MACC1 ENST00000332878 human ensembl 70_37 -1 known missense c.1144 p.P382S 1.000 NULL pfam_SH3_2,superfamily_DEATH-like - no_errors MACC1 HGNC MADD 8567 genome.wustl.edu 37 11 47331143 47331143 + Missense_Mutation SNP T T A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 47331143 47331143 T A SNP MADD ENST00000311027 human ensembl 70_37 +1 known missense c.4138 p.S1380T 1.000 NULL 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 MAGEF1 64110 genome.wustl.edu 37 3 184429564 184429564 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 3 184429564 184429564 C T SNP MAGEF1 ENST00000317897 human ensembl 70_37 -1 known missense c.46 p.E16K 0.032 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEF1 HGNC MALAT1 378938 genome.wustl.edu 37 11 65266481 65266481 + RNA SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 65266481 65266481 C T SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC MALAT1 378938 genome.wustl.edu 37 11 65268480 65268480 + RNA DEL T T - TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 65268480 65268480 T - DEL MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC MAN2A1 4124 genome.wustl.edu 37 5 109117292 109117292 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 5 109117292 109117292 C T SNP MAN2A1 ENST00000261483 human ensembl 70_37 +1 known missense c.1570 p.H524Y 0.067 pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A1 HGNC MAPK1 5594 genome.wustl.edu 37 22 22160227 22160227 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 22 22160227 22160227 C T SNP MAPK1 ENST00000215832 human ensembl 70_37 -1 known missense c.404 p.R135K 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_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_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC MAST4 375449 genome.wustl.edu 37 5 66459794 66459794 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 5 66459794 66459794 C T SNP MAST4 ENST00000404260 human ensembl 70_37 +1 known missense c.4796 p.A1599V 0.001 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC MED1 5469 genome.wustl.edu 37 17 37571589 37571589 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 17 37571589 37571589 G A SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.1301 p.S434F 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC MLPH 79083 genome.wustl.edu 37 2 238427252 238427252 + Silent SNP C C A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 238427252 238427252 C A SNP MLPH ENST00000264605 human ensembl 70_37 +1 known silent c.516 p.G172 0.001 NULL pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MLPH HGNC MYEOV2 150678 genome.wustl.edu 37 2 241066089 241066089 + Nonsense_Mutation SNP G G C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 241066089 241066089 G C SNP MYEOV2 ENST00000307266 human ensembl 70_37 -1 known nonsense c.650 p.S217* 0.001 NULL NULL - no_errors MYEOV2 HGNC MYEOV2 150678 genome.wustl.edu 37 2 241066249 241066249 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 241066249 241066249 G A SNP MYEOV2 ENST00000307266 human ensembl 70_37 -1 known missense c.490 p.P164S 0.000 NULL NULL - no_errors MYEOV2 HGNC NDUFB11 54539 genome.wustl.edu 37 X 47001822 47001822 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 47001822 47001822 C T SNP NDUFB11 ENST00000276062 human ensembl 70_37 -1 known missense c.386 p.R129H 1.000 pfam_NADH_UbQ_OxRdtase_ESSS_su pfam_NADH_UbQ_OxRdtase_ESSS_su - no_errors NDUFB11 HGNC NEIL3 55247 genome.wustl.edu 37 4 178274720 178274720 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 4 178274720 178274720 C T SNP NEIL3 ENST00000264596 human ensembl 70_37 +1 known missense c.1298 p.S433F 0.899 NULL pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL3 HGNC NSDHL 50814 genome.wustl.edu 37 X 152034375 152034375 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 152034375 152034375 G A SNP NSDHL ENST00000370274 human ensembl 70_37 +1 known missense c.556 p.A186T 0.983 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA - no_errors NSDHL HGNC NXF5 55998 genome.wustl.edu 37 X 101095805 101095805 + Splice_Site SNP T T C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 101095805 101095805 T C SNP NXF5 ENST00000493509 human ensembl 70_37 -1 known splice_site c.481-2 e7-2 0.522 - - - no_errors NXF5 HGNC OR10G8 219869 genome.wustl.edu 37 11 123901075 123901075 + Missense_Mutation SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 123901075 123901075 G T SNP OR10G8 ENST00000431524 human ensembl 70_37 +1 known missense c.746 p.C249F 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC OR5M1 390168 genome.wustl.edu 37 11 56380697 56380697 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 56380697 56380697 G A SNP OR5M1 ENST00000526538 human ensembl 70_37 -1 known silent c.282 p.Y94 0.015 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M1 HGNC OR8J3 81168 genome.wustl.edu 37 11 55904545 55904545 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 55904545 55904545 G A SNP OR8J3 ENST00000301529 human ensembl 70_37 -1 known missense c.650 p.S217F 0.527 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J3 HGNC OR8K5 219453 genome.wustl.edu 37 11 55927085 55927085 + Missense_Mutation SNP C C G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 55927085 55927085 C G SNP OR8K5 ENST00000313447 human ensembl 70_37 -1 known missense c.709 p.A237P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K5 HGNC PARP4 143 genome.wustl.edu 37 13 25021323 25021323 + Missense_Mutation SNP A A G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 13 25021323 25021323 A G SNP PARP4 ENST00000381989 human ensembl 70_37 -1 known missense c.3116 p.I1039T 1.000 pfam_VWF_A,pfscan_VWF_A pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC PBX2P1 5088 genome.wustl.edu 37 3 142897268 142897269 + RNA INS - - TTGT TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 3 142897268 142897269 - TTGT INS PBX2P1 ENST00000560287 human ensembl 70_37 +1 known rna NULL NULL 0.430:0.352 - - - no_errors PBX2P1 HGNC PCDHA2 56146 genome.wustl.edu 37 5 140176967 140176967 + Silent SNP T T C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 5 140176967 140176967 T C SNP PCDHA2 ENST00000378132 human ensembl 70_37 +1 known silent c.2418 p.S806 0.029 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA2 HGNC PCDHA3 56145 genome.wustl.edu 37 5 140182480 140182480 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 5 140182480 140182480 G A SNP PCDHA3 ENST00000522353 human ensembl 70_37 +1 known silent c.1698 p.L566 0.993 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA3 HGNC PDLIM1 9124 genome.wustl.edu 37 10 97050682 97050682 + RNA SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 10 97050682 97050682 G A SNP PDLIM1 ENST00000477757 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PDLIM1 HGNC PICALM 8301 genome.wustl.edu 37 11 85779764 85779764 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 11 85779764 85779764 G A SNP PICALM ENST00000393346 human ensembl 70_37 -1 known missense c.59 p.S20F 1.000 pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors PICALM HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PLB1 151056 genome.wustl.edu 37 2 28812907 28812908 + In_Frame_Ins INS - - TTT TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 28812907 28812908 - TTT INS PLB1 ENST00000422425 human ensembl 70_37 +1 known in_frame_ins c.2019_2020 p.674in_frame_insF 0.053:0.857 NULL pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type - no_errors PLB1 HGNC POGK 57645 genome.wustl.edu 37 1 166810229 166810229 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 166810229 166810229 G A SNP POGK ENST00000367875 human ensembl 70_37 +1 known silent c.36 p.L12 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors POGK HGNC POT1 25913 genome.wustl.edu 37 7 124503594 124503594 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 7 124503594 124503594 G A SNP POT1 ENST00000357628 human ensembl 70_37 -1 known missense c.356 p.S119L 1.000 pfam_Telomer_end-bd,superfamily_NA-bd_OB-fold-like,smart_Telomer_end-bd pfam_Telomer_end-bd,superfamily_NA-bd_OB-fold-like,smart_Telomer_end-bd - no_errors POT1 HGNC POTEF 728378 genome.wustl.edu 37 2 130877823 130877823 + Missense_Mutation SNP G G C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 130877823 130877823 G C SNP POTEF ENST00000357462 human ensembl 70_37 -1 known missense c.266 p.S89C 0.005 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 POTEF HGNC PRIMA1 145270 genome.wustl.edu 37 14 94245521 94245521 + Splice_Site SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 14 94245521 94245521 C T SNP PRIMA1 ENST00000393140 human ensembl 70_37 -1 known splice_site c.229+1 e2+1 1.000 - - - no_errors PRIMA1 HGNC PWP2 5822 genome.wustl.edu 37 21 45539369 45539369 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 21 45539369 45539369 G A SNP PWP2 ENST00000291576 human ensembl 70_37 +1 known missense c.1153 p.G385R 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC RABGAP1L 9910 genome.wustl.edu 37 1 174945277 174945277 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 174945277 174945277 G A SNP RABGAP1L ENST00000347255 human ensembl 70_37 +1 known silent c.588 p.E196 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC RAP1GDS1 5910 genome.wustl.edu 37 4 99264323 99264323 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 4 99264323 99264323 G A SNP RAP1GDS1 ENST00000339360 human ensembl 70_37 +1 known missense c.149 p.G50E 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors RAP1GDS1 HGNC RBL1 5933 genome.wustl.edu 37 20 35717489 35717489 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 20 35717489 35717489 C T SNP RBL1 ENST00000373664 human ensembl 70_37 -1 known missense c.193 p.V65I 1.000 NULL pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,pfam_Rb_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC REG1A 5967 genome.wustl.edu 37 2 79348029 79348029 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 79348029 79348029 G A SNP REG1A ENST00000233735 human ensembl 70_37 +1 known silent c.42 p.L14 0.117 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors REG1A HGNC REPS1 85021 genome.wustl.edu 37 6 139229911 139229911 + Nonsense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 6 139229911 139229911 G A SNP REPS1 ENST00000450536 human ensembl 70_37 -1 known nonsense c.2110 p.R704* 0.965 NULL smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors REPS1 HGNC RNF213 57674 genome.wustl.edu 37 17 78321462 78321462 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 17 78321462 78321462 C T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known silent c.9327 p.Y3109 0.721 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC RPGR 6103 genome.wustl.edu 37 X 38146592 38146592 + Silent SNP T T G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 38146592 38146592 T G SNP RPGR ENST00000339363 human ensembl 70_37 -1 known silent c.2275 p.R759 0.069 superfamily_Reg_csome_cond/b-lactamase_inh pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC RPPH1 85495 genome.wustl.edu 37 14 20811642 20811642 + RNA SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 14 20811642 20811642 C T SNP RPPH1 ENST00000554988 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors RPPH1 Clone_based_vega_gene RRBP1 6238 genome.wustl.edu 37 20 17606199 17606199 + Silent SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 20 17606199 17606199 G T SNP RRBP1 ENST00000246043 human ensembl 70_37 -1 known silent c.3012 p.I1004 0.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC RRM2B 50484 genome.wustl.edu 37 8 103226329 103226329 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 8 103226329 103226329 C T SNP RRM2B ENST00000251810 human ensembl 70_37 -1 known missense c.742 p.E248K 1.000 pfam_RNR_small,superfamily_Ferritin/RNR-like pfam_RNR_small,superfamily_Ferritin/RNR-like - no_errors RRM2B HGNC RXRB 6257 genome.wustl.edu 37 6 33162460 33162460 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 6 33162460 33162460 C T SNP RXRB ENST00000374680 human ensembl 70_37 -1 known silent c.1601 p.*534 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_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors RXRB HGNC RXRB 6257 genome.wustl.edu 37 6 33164323 33164323 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 6 33164323 33164323 C T SNP RXRB ENST00000374680 human ensembl 70_37 -1 known missense c.881 p.G294E 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd 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_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors RXRB HGNC SGTA 6449 genome.wustl.edu 37 19 2767201 2767201 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 19 2767201 2767201 C T SNP SGTA ENST00000221566 human ensembl 70_37 -1 known silent c.225 p.L75 0.038 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SGTA HGNC SLC22A4 6583 genome.wustl.edu 37 5 131676382 131676382 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 5 131676382 131676382 G A SNP SLC22A4 ENST00000200652 human ensembl 70_37 +1 known silent c.1569 p.Q523 0.999 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A4 HGNC SLC25A12 8604 genome.wustl.edu 37 2 172690498 172690498 + Missense_Mutation SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 172690498 172690498 G T SNP SLC25A12 ENST00000422440 human ensembl 70_37 -1 known missense c.820 p.L274I 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC SLC35G5 83650 genome.wustl.edu 37 8 11189300 11189300 + Missense_Mutation SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 8 11189300 11189300 G T SNP SLC35G5 ENST00000382435 human ensembl 70_37 +1 known missense c.685 p.V229L 0.938 pfam_DMT pfam_DMT - no_errors SLC35G5 HGNC SLC7A6 9057 genome.wustl.edu 37 16 68328701 68328701 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 16 68328701 68328701 C T SNP SLC7A6 ENST00000219343 human ensembl 70_37 +1 known silent c.1116 p.F372 1.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A6 HGNC SMAD4 4089 genome.wustl.edu 37 18 48593411 48593411 + Nonsense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 18 48593411 48593411 C T SNP SMAD4 ENST00000342988 human ensembl 70_37 +1 known nonsense c.1162 p.Q388* 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC SMARCAL1 50485 genome.wustl.edu 37 2 217279674 217279674 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 217279674 217279674 G A SNP SMARCAL1 ENST00000357276 human ensembl 70_37 +1 known missense c.247 p.D83N 0.011 NULL pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC SOCS4 122809 genome.wustl.edu 37 14 55510091 55510091 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 14 55510091 55510091 G A SNP SOCS4 ENST00000339298 human ensembl 70_37 +1 known missense c.332 p.R111Q 0.994 pfam_SOCS pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC SPATA32 124783 genome.wustl.edu 37 17 43332973 43332973 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 17 43332973 43332973 G A SNP SPATA32 ENST00000331780 human ensembl 70_37 -1 known silent c.576 p.L192 0.000 NULL NULL - no_errors SPATA32 HGNC SPHKAP 80309 genome.wustl.edu 37 2 228882421 228882421 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 228882421 228882421 G A SNP SPHKAP ENST00000392056 human ensembl 70_37 -1 known missense c.3149 p.T1050M 0.101 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC SSR4 6748 genome.wustl.edu 37 X 153061914 153061914 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 153061914 153061914 C T SNP SSR4 ENST00000320857 human ensembl 70_37 +1 known silent c.93 p.I31 1.000 pfam_TRAP-delta pfam_TRAP-delta - no_errors SSR4 HGNC SYTL4 94121 genome.wustl.edu 37 X 99931137 99931137 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 99931137 99931137 G A SNP SYTL4 ENST00000454200 human ensembl 70_37 -1 known missense c.1910 p.S637L 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,prints_Synaptotagmin - no_errors SYTL4 HGNC TARBP1 6894 genome.wustl.edu 37 1 234565269 234565269 + Missense_Mutation SNP C C G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 234565269 234565269 C G SNP TARBP1 ENST00000040877 human ensembl 70_37 -1 known missense c.2764 p.V922L 0.000 NULL pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC THSD7B 80731 genome.wustl.edu 37 2 138414450 138414450 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 138414450 138414450 G A SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known missense c.4199 p.R1400H 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC TM4SF5 9032 genome.wustl.edu 37 17 4686189 4686189 + Missense_Mutation SNP G G C TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 17 4686189 4686189 G C SNP TM4SF5 ENST00000270560 human ensembl 70_37 +1 known missense c.436 p.E146Q 0.000 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF5 HGNC TMCO4 255104 genome.wustl.edu 37 1 20009173 20009173 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 20009173 20009173 C T SNP TMCO4 ENST00000375127 human ensembl 70_37 -1 known silent c.1692 p.E564 0.000 NULL pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC TREX2 11219 genome.wustl.edu 37 X 152710753 152710753 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 X 152710753 152710753 C T SNP TREX2 ENST00000334497 human ensembl 70_37 -1 known missense c.265 p.D89N 0.008 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors TREX2 HGNC TRIM46 80128 genome.wustl.edu 37 1 155148617 155148617 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 1 155148617 155148617 C T SNP TRIM46 ENST00000334634 human ensembl 70_37 +1 known silent c.579 p.F193 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC TUBGCP5 114791 genome.wustl.edu 37 15 22867488 22867488 + Missense_Mutation SNP T T G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 15 22867488 22867488 T G SNP TUBGCP5 ENST00000283645 human ensembl 70_37 +1 known missense c.2564 p.L855R 0.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP5 HGNC UBE2E1 7324 genome.wustl.edu 37 3 23852950 23852950 + Splice_Site SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 3 23852950 23852950 G A SNP UBE2E1 ENST00000306627 human ensembl 70_37 +1 known splice_site c.153-1 e2-1 1.000 - - - no_errors UBE2E1 HGNC UGT2B15 7366 genome.wustl.edu 37 4 69519864 69519864 + Missense_Mutation SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 4 69519864 69519864 C T SNP UGT2B15 ENST00000338206 human ensembl 70_37 -1 known missense c.1204 p.D402N 1.000 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC USP43 124739 genome.wustl.edu 37 17 9632113 9632113 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 17 9632113 9632113 G A SNP USP43 ENST00000285199 human ensembl 70_37 +1 known missense c.3178 p.E1060K 0.440 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC VLDLR 7436 genome.wustl.edu 37 9 2643293 2643293 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 9 2643293 2643293 C T SNP VLDLR ENST00000382100 human ensembl 70_37 +1 known silent c.582 p.G194 0.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors VLDLR HGNC WASF3 10810 genome.wustl.edu 37 13 27250824 27250824 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 13 27250824 27250824 G A SNP WASF3 ENST00000335327 human ensembl 70_37 +1 known missense c.679 p.G227R 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC WNK1 65125 genome.wustl.edu 37 12 970314 970314 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 12 970314 970314 G A SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known missense c.1756 p.E586K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC ZEB2 9839 genome.wustl.edu 37 2 145157705 145157705 + Missense_Mutation SNP G G T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 2 145157705 145157705 G T SNP ZEB2 ENST00000303660 human ensembl 70_37 -1 known missense c.1049 p.T350K 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ZNF112 7771 genome.wustl.edu 37 19 44832470 44832470 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 19 44832470 44832470 G A SNP ZFP112 ENST00000536500 human ensembl 70_37 -1 known missense c.1909 p.R637W 0.999 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 ZFP112 HGNC ZMIZ1 57178 genome.wustl.edu 37 10 81070929 81070929 + Silent SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 10 81070929 81070929 G A SNP ZMIZ1 ENST00000334512 human ensembl 70_37 +1 known silent c.3084 p.E1028 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ZNF236 7776 genome.wustl.edu 37 18 74637258 74637258 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 18 74637258 74637258 G A SNP ZNF236 ENST00000253159 human ensembl 70_37 +1 known missense c.3769 p.E1257K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ZNF462 58499 genome.wustl.edu 37 9 109691647 109691647 + Silent SNP C C T TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 9 109691647 109691647 C T SNP ZNF462 ENST00000457913 human ensembl 70_37 +1 known silent c.5454 p.P1818 0.014 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ZNF791 163049 genome.wustl.edu 37 19 12739121 12739121 + Missense_Mutation SNP C C G TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8d78b37c-09aa-4aad-be4f-d6c128242f4f 434e2876-17fb-431e-b7c8-265f9d172e31 19 12739121 12739121 C G SNP ZNF791 ENST00000343325 human ensembl 70_37 +1 known missense c.778 p.L260V 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 ZNF791 HGNC